620 results match your criteria Cancer Genetics [Journal]


Maintaining a methods database to optimize solid tumor tissue culture: Review of a 15-year database from a single institution.

Cancer Genet 2019 Feb 2. Epub 2019 Feb 2.

Department of Pathology and Laboratory Medicine, Clinical Genetics and Genomics Laboratories, Children's Mercy Hospital, 2401 Gillham Rd, Kansas City, MO 64108, USA; Medical School, University of Missouri Kansas City, Kansas City, MO, USA. Electronic address:

Chromosome analysis of solid tumors provides valuable information for diagnosis and patient management, yet successfully culturing solid tumors can be challenging. The Children's Mercy (CM) Cytogenetics laboratory has compiled a database of 1371 non-lymphoma solid tumors cultured since 2002. Analysis of the tumor culture data found a culture success rate of 91. Read More

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http://dx.doi.org/10.1016/j.cancergen.2019.01.006DOI Listing
February 2019

Identification of eight meta-signature miRNAs as potential biomarkers for oropharyngeal cancers.

Cancer Genet 2018 Oct 24. Epub 2018 Oct 24.

Department of Orthodontics, Dental School, Kyungpook National University, 2177, Dalgubeoldae Ro, Jung Gu, Daegu 41940, Republic of Korea. Electronic address:

Background: Oropharyngeal Cancers (OC) is a commonly-seen disease with a high risk. The earlier studies of miRNAs on this disease were restricted by factors as sequencing platform, filtration conditions, causing the inconformity in the obtained result. We aimed to explore the miRNA biomarkers that can function as the predictive and therapeutic markers. Read More

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http://dx.doi.org/10.1016/j.cancergen.2018.10.004DOI Listing
October 2018
1 Read

The clinical and prognostic significance of FIS1, SPI1, PDCD7 and Ang2 expression levels in acute myeloid leukemia.

Cancer Genet 2018 Dec 7. Epub 2018 Dec 7.

Internal Medicine Department (Hematology Unit), Faculty of Medicine, Alexandria University, Alexandria, Egypt.

Objectives: The marked heterogeneity of acute myeloid leukemia (AML) renders precisely predicting patient prognosis extremely difficult. Genetic alterations, fusions and mutations, may result in misexpression of key genes in AML. We aimed to investigate the expression patterns of 4 novel genes; FIS1, SPI1, PDCD7 and Ang2 to determine their potential prognostic role in AML patients. Read More

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https://linkinghub.elsevier.com/retrieve/pii/S22107762183039
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http://dx.doi.org/10.1016/j.cancergen.2018.12.001DOI Listing
December 2018
7 Reads

Assessing copy number aberrations and copy-neutral loss-of-heterozygosity across the genome as best practice: An evidence-based review from the Cancer Genomics Consortium (CGC) working group for chronic lymphocytic leukemia.

Cancer Genet 2018 Dec 16;228-229:236-250. Epub 2018 Oct 16.

Department of Pathology, UMassMemorial Medical Center, Worcester, MA, USA; Quest Diagnostics, Marlborough, MA, USA. Electronic address:

The prognostic role of cytogenetic analysis is well-established in B-cell chronic lymphocytic leukemia (CLL). Approximately 80% of patients have a cytogenetic aberration. Interphase FISH panels have been the gold standard for cytogenetic evaluation, but conventional cytogenetics allows detection of additional abnormalities, including translocations, complex karyotypes and multiple clones. Read More

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http://dx.doi.org/10.1016/j.cancergen.2018.07.004DOI Listing
December 2018
2 Reads

Corrigendum to ``Survey of gynecological carcinosarcomas in families with breast and ovarian cancer predisposition'' [Cancer Genet. 221(2018) 38-45].

Cancer Genet 2018 Dec 29;228-229:128. Epub 2018 Jun 29.

Unit of Molecular Bases of Genetic Risk and Genetic Testing, Research Department, Fondazione IRCCS Istituto Nazionale dei Tumori, Via Amadeo 42, 20133, Milan, Italy.

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http://dx.doi.org/10.1016/j.cancergen.2018.06.001DOI Listing
December 2018
1 Read

Identification and characterization of a novel nuclear structure containing members of the homologous recombination and DNA damage response pathways.

Cancer Genet 2018 Dec 18;228-229:98-109. Epub 2018 Oct 18.

Division of Cancer Biology & Genetics, Cancer Research Institute, Queen's University, Kingston, ON K7L 3N6, Canada; Department of Biochemistry, Queen's University, Kingston, ON K7L 3N6, Canada; Departments of Pathology and Molecular Medicine, and Oncology, Queen's University, Kingston, ON K7L 3N6, Canada. Electronic address:

The human RAD9A protein is required for successful execution of the G2/M DNA damage checkpoint. Along with RAD1 and HUS1, RAD9A exists in a heterotrimeric ring-shaped complex which is necessary for activation of the CHK1 checkpoint kinase. RAD9A is also required for proper localization of both TopBP1 and the Claspin adaptor protein during the DNA damage response. Read More

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http://dx.doi.org/10.1016/j.cancergen.2018.10.003DOI Listing
December 2018
1 Read

Screening and characterization of BRCA2 c.156_157insAlu in Brazil: Results from 1380 individuals from the South and Southeast.

Cancer Genet 2018 Dec 6;228-229:93-97. Epub 2018 Oct 6.

Molecular Oncology Research Center, Barretos Cancer Hospital, R. Antenor Duarte Villela, 1331. Barretos 14784-400, São Paulo, Brazil; Barretos School of Health Science, Dr. Paulo Prata. Av. Loja Maçonica Renovadora, 68. Barretos 14785-002, São Paulo, Brazil. Electronic address:

Portuguese immigration to Brazil occurred in several waves and greatly contributed to the genetic composition of current Brazilian population. In this study, we evaluated the frequency of a Portuguese founder Alu insertion in BRCA2 exon 3 (c.156_157insAlu) among individuals fulfilling Hereditary Breast and Ovarian Cancer (HBOC) syndrome criteria in 1,380 unrelated families originated from three distinct Brazilian States. Read More

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http://dx.doi.org/10.1016/j.cancergen.2018.09.001DOI Listing
December 2018
4 Reads

BAP1 gene mutations in Egyptian patients with advanced sporadic malignant pleural mesothelioma (MPM): relation with clinical outcomes and survival.

Cancer Genet 2018 Dec 8;228-229:83-92. Epub 2018 Oct 8.

Medical Oncology & Hematological Malignancies, National Cancer Institute, Cairo University, Cairo, Egypt. Electronic address:

Background: Malignant Pleural Mesothelioma (MPM) is a lethal cancer with few therapeutic options. Patients with MPM have a poor prognosis, with estimated 1 year median survival and currently no treatment is curative. The BRCA associated protein 1 (BAP1) has the highest prevalence of protein-altering mutations identified in MPM. Read More

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http://dx.doi.org/10.1016/j.cancergen.2018.10.001DOI Listing
December 2018
1 Read

An expression quantitative trait locus variant for LKB1 gene predicts the clinical outcomes of chemotherapy in patients with non-small cell lung cancer.

Cancer Genet 2018 Dec 16;228-229:73-82. Epub 2018 Oct 16.

Department of Internal Medicine, School of Medicine, Kyungpook National University, Daegu, Republic of Korea; Department of Biochemistry and Cell Biology, School of Medicine, Kyungpook National University, Daegu, Republic of Korea; Cell and Matrix Research Institute, School of Medicine, Kyungpook National University, Daegu, Republic of Korea; Lung Cancer Center, Kyungpook National University Chilgok Hospital, Daegu, Republic of Korea; BK21 Plus KNU Biomedical Convergence Program, Department of Biomedical Science, Kyungpook National University, Daegu, Republic of Korea. Electronic address:

Background: We conducted this study to identify regulatory variants in cancer-related pathway genes which can predict clinical outcomes of chemotherapy in advanced NSCLC, using a comprehensive list of regulatory SNPs prioritized by RegulomeDB.

Methods: A total of 509 potentially functional SNPs in cancer-related pathway genes were evaluated. The SNPs were analyzed in a discovery set (n = 198), and an independent validation set (n = 181). Read More

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http://dx.doi.org/10.1016/j.cancergen.2018.10.002DOI Listing
December 2018
1 Read

The role of E-cadherin and Runx3 in Helicobacter Pylori - Associated gastric carcinoma is achieved through regulating P21waf and P27 expression.

Cancer Genet 2018 Dec 19;228-229:64-72. Epub 2018 Sep 19.

Molecular Virology and Immunology Unit, Cancer Biology Department, National Cancer Institute, Cairo University, Cairo, Egypt.

Background: We assessed the role of E-cadherin (CDH1), runt-related transcription factor 3, p21waf and p27 promoter methylation (PM) and protein expression in Helicobacter pylori (HP)-associated gastric carcinomas (GCs) and adjacent non-neoplastic tissues (ANNTs).

Patients And Methods: 192 cases were assessed for PM and protein expression of CDH1, RUNX3, p21waf and p27 by methylation-specific PCR (MSP) and immunohistochemistry. The CagA gene was also assessed. Read More

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http://dx.doi.org/10.1016/j.cancergen.2018.08.006DOI Listing
December 2018
1 Read

Validation of a next-generation sequencing oncology panel optimized for low input DNA.

Cancer Genet 2018 Dec 19;228-229:55-63. Epub 2018 Sep 19.

Hospital of the University of Pennsylvania, Division of Precision and Computational Diagnostics, Department of Pathology & Laboratory Medicine, 3020 Market Street, Suite 220, Philadelphia, PA 19104, United States. Electronic address:

One caveat of next-generation sequencing (NGS)-based clinical oncology testing is the high amount of input DNA required. We sought to develop a focused NGS panel that could capture hotspot regions in relevant genes requiring 0.5-10 ng input DNA. Read More

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http://dx.doi.org/10.1016/j.cancergen.2018.08.004DOI Listing
December 2018
2 Reads

Identification of gene-specific DNA methylation signature for Colorectal Cancer.

Cancer Genet 2018 Dec 26;228-229:5-11. Epub 2018 May 26.

Department of Gastroenterology, The Second People's Hospital of Shenzhen, the First Affiliated Hospital of Shenzhen University, Shenzhen 518035, China. Electronic address:

Background: Colorectal Cancer (CC), a common disease causing approximately million deaths annually, has been the third most frequent type of malignancy. We aimed to identify gene-specific DNA methylation signature to function as prognostic and predictive markers for CC patient survival.

Methods: Expression profiles of gene-specific DNA methylation and the corresponding clinical information of 201 CC patients were downloaded from The Cancer Genome Atlas (TCGA) dataset and differentially expressed gene-specific DNA methylation was identified after tumor subtype classification. Read More

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https://linkinghub.elsevier.com/retrieve/pii/S22107762183008
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http://dx.doi.org/10.1016/j.cancergen.2018.05.003DOI Listing
December 2018
5 Reads

Identification of key genes and construction of microRNA-mRNA regulatory networks in non-small cell lung cancer.

Cancer Genet 2018 Dec 27;228-229:47-54. Epub 2018 Aug 27.

School of Clinical Medicine, Dali University, Xue-ren Road, Xia guang District, Dali, Yunnan 671000, China. Electronic address:

Non-small cell lung cancer (NSCLC) is the most common type of lung tumor. Deregulation of microRNA may be involved in the occurrence of NSCLC and we aimed to find the potential prognostic biomarkers for NSCLC. The microRNA microarray expression profiles were downloaded from GEO dataset and then generated by applying robust multi-array average (RMA). Read More

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http://dx.doi.org/10.1016/j.cancergen.2018.08.003DOI Listing
December 2018
2 Reads
2.417 Impact Factor

Myeloproliferative neoplasm with ABL1/ETV6 rearrangement mimics chronic myeloid leukemia and responds to tyrosine kinase inhibitors.

Cancer Genet 2018 Dec 27;228-229:41-46. Epub 2018 Aug 27.

Department of Hematopathology, University of Texas, MD Anderson Cancer Center, 1515 Holcombe Blvd, Houston, TX 77030-4009, USA. Electronic address:

Myeloproliferative neoplasms (MPN) associated with ABL1-ETV6 fusions are rare and poorly characterized. To date, less than 20 cases of ABL1-ETV6+ MPN have been reported. We report a 47-year-old man who presented with MPN with clinicopathologic features resembling chronic myeloid leukemia, but there was no evidence of t(9;22)(p34. Read More

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https://linkinghub.elsevier.com/retrieve/pii/S22107762183028
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http://dx.doi.org/10.1016/j.cancergen.2018.08.002DOI Listing
December 2018
7 Reads

Primary extranodal diffuse large B-cell lymphomas: Many sites, many entities? Clinico-pathological, immunohistochemical and cytogenetic study of 106 cases.

Cancer Genet 2018 Dec 28;228-229:28-40. Epub 2018 Aug 28.

Department Of Medicine and Surgery, Unit of Pathology, University of Insubria, Via O. Rossi, 9, 21100 Varese, Italy. Electronic address:

We analyzed the clinicopathological, immunohistochemical and cytogenetic features of 106 extranodal (EN) diffuse large B-cell lymphomas (DLBCLs) from stomach (34 cases), intestine (10), cervico-cephalic region (11), central nervous system (13), testes (21), skin (8), and miscellaneous sites (9). Hans' algorithm and the immunohistochemical double expressor score (DES) for MYC and BCL2 were applied to all cases. A subset of fifty-eight cases were analyzed with fluorescent in situ hybridization (FISH) with specific break apart probes for BCL6, MYC, BCL2, CCND1, BCL10 and MALT1 genes. Read More

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http://dx.doi.org/10.1016/j.cancergen.2018.08.001DOI Listing
December 2018
3 Reads

Evaluation of commercial kits for purification of circulating free DNA.

Cancer Genet 2018 Dec 29;228-229:21-27. Epub 2018 Aug 29.

Department of Biomedical Sciences, Faculty of Medicine and Health Sciences, Macquarie University, Sydney, NSW 2109, Australia; The Poche Centre, Melanoma Institute Australia, NSW 2065, Australia. Electronic address:

Analysis of liquid biopsies and the identification of non-invasive biomarkers for the diagnosis and prognosis of solid tumors has grown exponentially over the last few years. This has led to an increasing number of commercial kits optimised for the purification of circulating free (cf) DNA and RNA/miRNA from biofluids such as plasma, serum and urine. To optimise and standardise current practices we sought to evaluate the performance of spin column-based and magnetic bead-based commercial kits. Read More

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https://linkinghub.elsevier.com/retrieve/pii/S22107762183025
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http://dx.doi.org/10.1016/j.cancergen.2018.08.005DOI Listing
December 2018
9 Reads

Utilization of CMA in myeloid, lymphoid and plasma cell disorders.

Authors:
Schwartz Stuart

Cancer Genet 2018 Dec;228-229:181-183

Cytogenetics Laboratory, Laboratory Corporation of America® Holdings, Research Triangle Park, NC, 27709.

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http://dx.doi.org/10.1016/j.cancergen.2018.11.007DOI Listing
December 2018
1 Read

A rare case of hepatosplenic γδ T-cell lymphoma expressing CD19 with ring chromosome 7 and trisomy 8.

Cancer Genet 2018 Dec 19;228-229:17-20. Epub 2018 Jul 19.

Hematopathology Department, Tata Memorial Centre, Advanced Centre for Treatment, Research & Education in Cancer (ACTREC), Sector-22, Kharghar, CCE building, Navi Mumbai 410210, India.

Hepatosplenic T-cell lymphoma (HSTL) is a rare subtype of peripheral T-cell lymphoma predominantly seen in young males. This disease presents with isolated hepatosplenomegaly and thrombocytopenia with sinusoidal infiltration of liver and sinusal infiltration of spleen. Immunophenotype shows positivity for CD3, CD7, TCRγδ or TCRαβ, CD38 and double negative for CD4, CD8, TdT, CD5, and CD56. Read More

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https://linkinghub.elsevier.com/retrieve/pii/S22107762183002
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http://dx.doi.org/10.1016/j.cancergen.2018.06.003DOI Listing
December 2018
6 Reads

Primary aneurysmal bone cyst with a novel SPARC-USP6 translocation identified by next-generation sequencing.

Cancer Genet 2018 Dec 20;228-229:12-16. Epub 2018 Jul 20.

Faculty of Medicine, Institute of Pathology, University of Ljubljana, Korytkova 2, 1000 Ljubljana, Slovenia.

Aneurysmal bone cyst (ABC) is a benign but locally aggressive, mostly pediatric neoplasm, with characteristic USP6 gene rearrangement that distinguishes it from a secondary ABC and other primary bone tumors. With the advent of next-generation sequencing (NGS) technology, several hitherto unknown USP6 fusion partners have been identified in ABC. Accordingly, we present a case of an 18-year-old male with a solid sub-periosteal primary ABC in the diaphysis of the left femur. Read More

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http://dx.doi.org/10.1016/j.cancergen.2018.07.001DOI Listing
December 2018
2 Reads

Clinical impact of MYC abnormalities in plasma cell myeloma.

Cancer Genet 2018 Dec 30;228-229:115-126. Epub 2018 Oct 30.

Department of Pathology, UT Southwestern Medical, 5323 Harry Hines Blvd, Dallas, TX 75390, United States of America. Electronic address:

Clinically and genomically, plasma cell myeloma (PCM) is a complex disease affecting the elderly population and has often had a poor prognosis. Karyotypic analysis of tumor cells is somewhat limited due to a low proliferative index coupled with a low frequency of tumor cells in clinical samples. Nevertheless, complex karyotypes with a multitude of numerical, balanced and unbalanced structural aberrations have been reported in these tumors. Read More

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http://dx.doi.org/10.1016/j.cancergen.2018.10.007DOI Listing
December 2018
1 Read

A new complex rearrangement in infant ALL: t(X;11;17)(p11.2;q23;q12).

Cancer Genet 2018 Dec 28;228-229:110-114. Epub 2018 Oct 28.

Department of Pediatrics, Ribeirão Preto School of Medicine, University of São Paulo, Av. Bandeirantes 3900, Bairro Monte Alegre, Ribeirão Preto, SP CEP 14040-900, Brazil.

We present a case of an infant who developed pro-B acute lymphoblastic leukemia with a rare and complex MLL-translocation. Cytogenetic analysis of bone marrow cells at diagnosis showed a 46,XY,t(X;11)(p11.2;q23)[13]/46,XY[7] karyotype. Read More

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https://linkinghub.elsevier.com/retrieve/pii/S22107762183034
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http://dx.doi.org/10.1016/j.cancergen.2018.10.006DOI Listing
December 2018
7 Reads

New insights into the performance of multigene panel testing: Two novel nonsense variants in BRIP1 and TP53 in a young woman with breast cancer.

Cancer Genet 2018 Dec 23;228-229:1-4. Epub 2018 Jun 23.

Genetic Diagnostic Laboratory, Department of Clinical Analyses, Clinical University Hospital Virgen Arrixaca, Ctra Murcia-Cartagena s/n. El Palmar, 30120 Murcia, Spain.

Li-Fraumeni syndrome is an autosomal-dominant disorder caused by germline mutations in the tumour suppressor gene TP53. Here we report the case of a family whose index case was a woman diagnosed with bilateral breast cancer at the age of 18 and who had a non-informative result after BRCA1 and BRCA2 testing. After extending the study through multigene panel testing, two clinically relevant variants in the TP53 and BRIP1 genes, respectively, were found. Read More

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http://dx.doi.org/10.1016/j.cancergen.2018.06.002DOI Listing
December 2018
2 Reads

STK11 gene analysis reveals a significant number of splice mutations in Chinese PJS patients.

Cancer Genet 2019 Jan 30;230:47-57. Epub 2018 Nov 30.

Department of Gastroenterology, Airforce Specialty Medical Center of PLA, 30 Fucheng Rd., Beijing 100142, China. Electronic address:

Background: The combination of direct sequencing and multiple ligation-dependent probe amplification (MLPA) has resulted in an 80% detection rate of serine/threonine kinase 11 (STK11) gene mutations in Peutz-Jeghers syndrome (PJS); however, this rate varies in different ethnicities.

Aims: To test the efficacy of the combination in Chinese patients with PJS.

Methods: PJS probands visiting our center during one year were enrolled. Read More

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http://dx.doi.org/10.1016/j.cancergen.2018.11.008DOI Listing
January 2019
2 Reads

Molecular and pathologic characterization of AML with double Inv(3)(q21q26.2).

Cancer Genet 2019 Jan 16;230:28-36. Epub 2018 Nov 16.

Pathology and Laboratory Medicine Institute, Cleveland Clinic, Cleveland, OH, USA; Department of Pathology, UH Cleveland Medical Center, 10524 Euclid Ave, Cleveland, OH 44106, USA. Electronic address:

The inv(3)(q21q26.2) altering a single chromosome 3 homolog is an established myeloid malignancy-associated entity. Comparatively, double inv(3) cases involving both homologs are exceedingly rare with 13 reports across AML, CML and MDS. Read More

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http://dx.doi.org/10.1016/j.cancergen.2018.08.007DOI Listing
January 2019
2 Reads

Constitutional chromosome rearrangements that mimic the 2017 world health organization "acute myeloid leukemia with recurrent genetic abnormalities": A study of three cases and review of the literature.

Cancer Genet 2019 Jan 20;230:37-46. Epub 2018 Nov 20.

Department of Laboratory Medicine and Pathology, Division of Laboratory Genetics and Genomics, Mayo Clinic, 200 First Street SW, Rochester, MN 55905, United States.

Objectives: To identify and characterize constitutional chromosomal rearrangements that mimic recurrent genetic abnormalities in acute myeloid leukemia (AML).

Methods: Bone marrow and blood chromosome studies were reviewed to identify constitutional rearrangements that resemble those designated by the 2017 revised World Health Organization (WHO) "AML with recurrent genetic abnormalities". Mate-pair sequencing (MPseq) was performed on cases with constitutional chromosome mimics of recurrent AML abnormalities to further define the rearrangement breakpoints. Read More

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http://dx.doi.org/10.1016/j.cancergen.2018.11.005DOI Listing
January 2019
11 Reads

Establishing a human adrenocortical carcinoma (ACC)-specific gene mutation signature.

Cancer Genet 2019 Jan 9;230:1-12. Epub 2018 Nov 9.

Graduate School of Biomedical Science and Engineering, Hanyang University, 222 Wangsimni-ro, Seongdong-gu, Seoul 133-791, Republic of Korea. Electronic address:

Adrenocortical carcinoma (ACC) is a rare and aggressive tumor whose molecular signaling pathways are not fully understood. Using an in-silico clinical data analysis approach we retrieved human gene mutation data from the highly reputed Cancer Genome Atlas (TCGA). ACC-specific gene mutations were correlated with proliferation marker FAM72 expression and Mutsig along with the algorithmic implementation of the 20/20 rule were used to validate their oncogenic potential. Read More

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http://dx.doi.org/10.1016/j.cancergen.2018.10.005DOI Listing
January 2019
1 Read
2.417 Impact Factor

Genome-wide isoform-level analysis reveals tumor-specific isoforms for lung adenocarcinoma diagnosis and prognosis.

Cancer Genet 2019 Jan 13;230:58-65. Epub 2018 Nov 13.

Department of Oncology, Shanghai Medical College, Fudan University, Shanghai 200032, China. Electronic address:

Last decades have witnessed the great progress in exploration of tumor transcriptome. However, most researches were restricted in gene-level expression. mRNA isoforms, especially tumor-specific isoforms have not been fully explored in tumor. Read More

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http://dx.doi.org/10.1016/j.cancergen.2018.11.004DOI Listing
January 2019
10 Reads

MiR-708-5p is inversely associated with EWS/FLI1 Ewing sarcoma but does not represent a prognostic predictor.

Cancer Genet 2019 Jan 13;230:21-27. Epub 2018 Nov 13.

Department of Biomechanics, Medicine and Rehabilitation of the Locomotor System, Ribeirão Preto School of Medicine, University of São Paulo, Av. Bandeirantes, 3,900, Bairro Monte Alegre, CEP 14040-901 Ribeirão Preto, SP, Brazil. Electronic address:

Background: Overall survival of Ewing sarcoma (EWS) remains poor and less than 30% of patients with metastatic or recurrent disease survive despite current treatments. Thus, there is a constant search for new biomarkers for diagnosis, prognosis and prediction of therapy. Numerous studies have reported the abnormal expression of miR-708-5p in tumors of different origins. Read More

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http://dx.doi.org/10.1016/j.cancergen.2018.11.003DOI Listing
January 2019
11 Reads

Novel rearrangements involving the RET gene in papillary thyroid carcinoma.

Cancer Genet 2019 Jan 13;230:13-20. Epub 2018 Nov 13.

Section of Endocrine Surgery, Department of General, Visceral and Transplantation Surgery, University Medical Center, Johannes Gutenberg University Mainz, Langenbeckstraße 1, D-55131 Mainz, Germany.

Background: In the field of gene fusions driving tumorigenesis in papillary thyroid carcinoma (PTC), rearrangement of the proto-oncogene RET is the most frequent alteration. Apart from the most common rearrangement of RET to CCDC6, more than 15 partner genes are yet reported. The landscape of RET rearrangements in PTC ("RET-PTC") can notably be enlarged by modern targeted next-generation sequencing, indicating similarities between oncogenic pathways in other cancer types with identical genetic alterations. Read More

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http://dx.doi.org/10.1016/j.cancergen.2018.11.002DOI Listing
January 2019
2 Reads

Reprint of: Circulating cell-free DNA mutation patterns in early and late stage colon and pancreatic cancer.

Cancer Genet 2018 Dec 9;228-229:131-142. Epub 2018 Nov 9.

Department of Oncology, Georgetown University, Washington, DC, USA; Otto J. Ruesch Center for the Cure of Gastrointestinal Cancer, Lombardi Comprehensive Cancer Center, Georgetown University, Washington, DC, USA. Electronic address:

Cancer is a heterogeneous disease harboring diverse subclonal populations that can be discriminated by their DNA mutations. Environmental pressure selects subclones that ultimately drive disease progression and tumor relapse. Circulating cell-free DNA (ccfDNA) can be used to approximate the mutational makeup of cancer lesions and can serve as a marker for monitoring disease progression at the molecular level without the need for invasively acquired samples from primary or metastatic lesions. Read More

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https://linkinghub.elsevier.com/retrieve/pii/S22107762183048
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http://dx.doi.org/10.1016/j.cancergen.2018.11.001DOI Listing
December 2018
9 Reads

Assessing genome-wide copy number aberrations and copy-neutral loss-of-heterozygosity as best practice: An evidence-based review from the Cancer Genomics Consortium working group for plasma cell disorders.

Cancer Genet 2018 Dec 5;228-229:184-196. Epub 2018 Oct 5.

Fred Hutchinson Cancer Research Center and University of Washington, Seattle, WA, USA. Electronic address:

Background: Plasma cell neoplasms (PCNs) encompass a spectrum of disorders including monoclonal gammopathy of undetermined significance, smoldering myeloma, plasma cell myeloma, and plasma cell leukemia. Molecular subtypes have been defined by recurrent cytogenetic abnormalities and somatic mutations that are prognostic and predictive. Karyotype and fluorescence in situ hybridization (FISH) have historically been used to guide management; however, new technologies and markers raise the need to reassess current testing algorithms. Read More

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https://linkinghub.elsevier.com/retrieve/pii/S22107762183007
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http://dx.doi.org/10.1016/j.cancergen.2018.07.002DOI Listing
December 2018
28 Reads

Assessing copy number aberrations and copy neutral loss of heterozygosity across the genome as best practice: An evidence based review of clinical utility from the cancer genomics consortium (CGC) working group for myelodysplastic syndrome, myelodysplastic/myeloproliferative and myeloproliferative neoplasms.

Cancer Genet 2018 Dec 10;228-229:197-217. Epub 2018 Oct 10.

Fred Hutchinson Cancer Research Center and University of Washington, Seattle, WA, USA. Electronic address:

Multiple studies have demonstrated the utility of chromosomal microarray (CMA) testing to identify clinically significant copy number alterations (CNAs) and copy-neutral loss-of-heterozygosity (CN-LOH) in myeloid malignancies. However, guidelines for integrating CMA as a standard practice for diagnostic evaluation, assessment of prognosis and predicting treatment response are still lacking. CMA has not been recommended for clinical work-up of myeloid malignancies by the WHO 2016 or the NCCN 2017 guidelines but is a suggested test by the European LeukaemiaNet 2013 for the diagnosis of primary myelodysplastic syndrome (MDS). Read More

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https://linkinghub.elsevier.com/retrieve/pii/S22107762183006
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http://dx.doi.org/10.1016/j.cancergen.2018.07.003DOI Listing
December 2018
5 Reads

Assessing copy number abnormalities and copy-neutral loss-of-heterozygosity across the genome as best practice in diagnostic evaluation of acute myeloid leukemia: An evidence-based review from the cancer genomics consortium (CGC) myeloid neoplasms working group.

Cancer Genet 2018 Dec 6;228-229:218-235. Epub 2018 Oct 6.

Department of Pathology and Laboratory Medicine, Children's Hospital of Los Angeles, Los Angeles, CA, USA. Electronic address:

Structural genomic abnormalities, including balanced chromosomal rearrangements, copy number gains and losses and copy-neutral loss-of-heterozygosity (CN-LOH) represent an important category of diagnostic, prognostic and therapeutic markers in acute myeloid leukemia (AML). Genome-wide evaluation for copy number abnormalities (CNAs) is at present performed by karyotype analysis which has low resolution and is unobtainable in a subset of cases. Furthermore, examination for possible CN-LOH in leukemia cells is at present not routinely performed in the clinical setting. Read More

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https://linkinghub.elsevier.com/retrieve/pii/S22107762183005
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http://dx.doi.org/10.1016/j.cancergen.2018.07.005DOI Listing
December 2018
19 Reads

SH2B3 aberrations enriched in iAMP21 B lymphoblastic leukemia.

Cancer Genet 2018 Oct 8;226-227:30-35. Epub 2018 Jun 8.

Department of Laboratory Medicine and Pathology and Masonic Cancer Center, University of Minnesota, 420 Delaware Street SE, Minneapolis, MN, United States. Electronic address:

Acute lymphoblastic leukemia (ALL) represents the most common childhood malignancy. Although survival for pediatric B-ALL has approached 90%, variability in outcome among and within cytogenetically defined subgroups persists. While G-banding and fluorescence in situ hybridization (FISH) have been used to characterize leukemic clones, there is added value of chromosomal microarray and next generation sequencing in screening genome-wide for copy number aberrations, copy neutral loss of heterozygosity and nucleotide variations. Read More

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http://dx.doi.org/10.1016/j.cancergen.2018.05.004DOI Listing
October 2018
16 Reads

Differentially expressed LncRNAs as potential prognostic biomarkers for glioblastoma.

Cancer Genet 2018 Oct 20;226-227:23-29. Epub 2018 Jun 20.

Department of Neurosurgery, Linyi People's Hospital, Linyi 276000, China. Electronic address:

Glioblastoma (GBM) is the most common and aggressive brain tumor with the poor clinical outcome. LncRNAs (Long non-coding RNAs) play an important role in the occurrence and development of glioblastoma. We aimed to explore the role that lncRNAs play in regulating glioblastoma and the pathways they are enriched in. Read More

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http://dx.doi.org/10.1016/j.cancergen.2018.05.001DOI Listing
October 2018
5 Reads

Challenges in next generation sequencing analysis of somatic mutations in transplant patients.

Cancer Genet 2018 Oct 10;226-227:17-22. Epub 2018 May 10.

Division of Pathology and Laboratory Medicine, Department of Pathology, The University of Texas MD Anderson Cancer Center, Houston, TX, United States; Department of Pathology, University of Alabama at Birmingham, NP 3538, 619 19th Street S, Birmingham, AL 35249-7331, United States . Electronic address:

Analysis of somatic mutations in solid tumors and hematologic malignancies using targeted next generation sequencing (NGS)-based assays has become part of routine oncology practice as well as clinical trials. The use of paired tumor-normal DNA samples increases confidence of somatic calls. NGS assays that utilize unique patient identifiers (SNP IDs) allow further comparison of samples within a run or paired tumor/normal samples. Read More

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https://linkinghub.elsevier.com/retrieve/pii/S22107762173039
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http://dx.doi.org/10.1016/j.cancergen.2018.04.119DOI Listing
October 2018
13 Reads
2.420 Impact Factor

Clonal neutrophil infiltrates in concurrent Sweet's syndrome and acute myeloid leukemia: A case report and literature review.

Cancer Genet 2018 Oct 10;226-227:11-16. Epub 2018 May 10.

Department of Hematology, The First Affiliated Hospital of China Medical University, No.155, Nanjing North Street, Shenyang, Liaoning 110001, PR China. Electronic address:

Sweet's syndrome (SS), also known as acute febrile neutrophilic dermatosis is often associated with a hematological malignancy, especially acute myeloid leukemia (AML) and myeloid dysplasia syndrome. Histopathologically, SS is characterized by diffuse infiltrates in the upper dermis, predominantly consisting of mature neutrophils. The origin of neutrophils invading the skin remains unknown. Read More

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http://dx.doi.org/10.1016/j.cancergen.2018.04.120DOI Listing
October 2018
21 Reads
2.420 Impact Factor

Non-invasive early detection of malignant pulmonary nodules by FISH-based sputum test.

Cancer Genet 2018 Oct 10;226-227:1-10. Epub 2018 May 10.

Department of Surgery, St. Luke's University Health Network, Bethlehem & Temple University Medical School, PA, USA.

Background: Early detection decreases lung cancer mortality. The Target-FISH Lung Cancer Detection (LCD) Test is a non-invasive test designed to detect chromosomal changes (deletion or amplification) via Fluorescence in situ Hybridization (FISH) in sputum specimens from persons suspected of having lung cancer. We evaluated the performance of the LCD test in patients with highly suspicious pulmonary nodules who were scheduled for a biopsy procedure. Read More

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http://dx.doi.org/10.1016/j.cancergen.2018.04.118DOI Listing
October 2018
11 Reads

Corrigendum to "Potential circulating miRNA signature for early detection of NSCLC" [Cancer Genetics 216-217 (2017) 150-158].

Cancer Genet 2018 Dec 15;228-229:127. Epub 2018 Jun 15.

Lung Transplantation Research Center, NRITLD, Shahid Beheshti University of Medical Sciences, Tehran, Iran.

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http://dx.doi.org/10.1016/j.cancergen.2018.05.002DOI Listing
December 2018
4 Reads
2.420 Impact Factor

EGFL7 and RASSF1 promoter hypermethylation in epithelial ovarian cancer.

Cancer Genet 2018 08 17;224-225:37-40. Epub 2018 Apr 17.

Department of Obstetrics and Gynecology, Faculty of Medicine Ramathibodi Hospital, Mahidol University, 10400, Thailand.

DNA methylation is one of the epigenetic mechanisms associated with gene expression and plays a key role as in activation and deactivation of oncogenes and tumor suppressor genes, respectively. This study employed DNA methylation array to identify methylated genes which are highly correlated with various phenotypes of epithelial ovarian cancer (EOC) in Thai patients and to quantify promoter CpG-island methylation of candidate genes. Tissues from patients with serous and non-serous EOC showed significantly higher promoter methylation of EGFL7 and RASSF1 compared to benign cases. Read More

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http://dx.doi.org/10.1016/j.cancergen.2018.04.117DOI Listing
August 2018
4 Reads

Female-specific association among I, J and K mitochondrial genetic haplogroups and cancer: A longitudinal cohort study.

Cancer Genet 2018 08 11;224-225:29-36. Epub 2018 Apr 11.

National Research Council, Neuroscience Institute, Aging Branch, Padova, Italy; Institute for clinical Research and Education in Medicine (IREM), Padova, Italy.

Recent studies highlighted the role of mitochondrial dysregulation in cancer, suggesting that the different mitochondrial haplogroups might play a role in tumorigenesis and risk of cancer development. Our aim is to investigate whether any mitochondrial haplogroups carried a significant higher risk of cancer development in a large prospective cohort of North American people. The haplogroup assignment was performed by a combination of sequencing and PCR-RFLP techniques. Read More

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http://dx.doi.org/10.1016/j.cancergen.2018.04.003DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5973548PMC
August 2018
8 Reads
2.420 Impact Factor

Nuclear BAP1 loss is common in intrahepatic cholangiocarcinoma and a subtype of hepatocellular carcinoma but rare in pancreatic ductal adenocarcinoma.

Cancer Genet 2018 08 9;224-225:21-28. Epub 2018 Apr 9.

National Liver Institute Sustainable Sciences Institute Collaborative Research Center (NLISSICRC), Menoufia University, Egypt; Department of pathology, National Liver Institute (NLI), Menoufia University, Egypt; Department of Ophthalmology, The Ohio State University, Columbus, OH, US; Division of Human Genetics, Department of Internal Medicine, The Ohio State University, Columbus, OH, US. Electronic address:

Deletion in the 3p21 region, the chromosomal location of BAP1, has been reported in a subset of hepatocellular carcinoma (HCC), biliary and pancreatic cancers. This suggests that BAP1 could play a role in the pathogenesis of these tumors. We assessed the frequency of BAP1 loss by immunohistochemistry in 103 hepatic, biliary and pancreatic cancers. Read More

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http://dx.doi.org/10.1016/j.cancergen.2018.03.002DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5996975PMC
August 2018
4 Reads

Clinical germline diagnostic exome sequencing for hereditary cancer: Findings within novel candidate genes are prevalent.

Cancer Genet 2018 08 6;224-225:12-20. Epub 2018 Apr 6.

Ambry Genetics, Department of Clinical Genomics, Aliso Viejo, CA, 92656, USA.

Clinical diagnostic exome sequencing (DES) has been effective in diagnosing individuals with suspected genetic conditions; nevertheless little has been described regarding its clinical utility in individuals with a personal and family history of cancer. This study aimed to assess diagnostic yield and clinical characteristics of pediatric and adult patients undergoing germline DES for hereditary cancer. We retrospectively reviewed 2171 patients referred for DES; cases with a personal and/or family history of cancer were further studied. Read More

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http://dx.doi.org/10.1016/j.cancergen.2018.04.002DOI Listing
August 2018
2 Reads

ETV6/RUNX1-positive childhood acute lymphoblastic leukemia (ALL): The spectrum of clonal heterogeneity and its impact on prognosis.

Cancer Genet 2018 08 27;224-225:1-11. Epub 2018 Mar 27.

Department of Pediatric Hematology-Oncology, "Aghia Sophia" Childrens' Hospital, Athens, Greece.

The prognostic significance of the ETV6/RUNX1-fusion and of the accompanying aberrations is disputable; whether co-existing sub-clones are responsible for delayed MRD-clearance and thus, moderate outcome, remains to be clarified. We studied, in a paediatric cohort of 119 B-ALLs, the relation between the ETV6/RUNX1 aberration and the co-existing subclones with (a) presenting clinical/biological features, (b) early response to treatment(MRD) and (c) long-term outcome over a 12-year period. Patients were homogeneously treated according to BFM-based-protocols. Read More

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https://linkinghub.elsevier.com/retrieve/pii/S22107762173043
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http://dx.doi.org/10.1016/j.cancergen.2018.03.001DOI Listing
August 2018
3 Reads

H2AFY is a novel fusion partner of MECOM in acute myeloid leukemia.

Cancer Genet 2018 04 17;222-223:9-12. Epub 2018 Feb 17.

Department of Haematology, Jingjiang People's Hospital, the Seventh Affiliated Hospital of Yangzhou University, Jingjiang, Jiangsu, China. Electronic address:

The MECOM gene encoding a zinc finger protein that functions as a transcription factor, was located on chromosome 3q26, and rearrangements of MECOM often cause its overexpression in acute myeloid leukemia (AML). We identified H2AFY as a novel fusion gene partner of MECOM in an elderly male AML patient with cryptic 3q26 rearrangement using the whole transcriptome sequencing, who carried out abnormal karyotype of 46,XY,t(3;5)(q27;q31),add(14)(p11). We validated the existence of the unreported H2AFY-MECOM fusion gene by RT-PCR and Sanger DNA sequencing, and detected mutations of NRAS and BCOR in this patient. Read More

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http://dx.doi.org/10.1016/j.cancergen.2018.01.004DOI Listing
April 2018
9 Reads

Mutation analysis of therapy-related myeloid neoplasms.

Cancer Genet 2018 04 8;222-223:38-45. Epub 2018 Mar 8.

Department of Hematology and Oncology, Nagoya University Graduate School of Medicine, Nagoya, Japan. Electronic address:

We analyzed the genetic mutation status of 13 patients with therapy-related myeloid neoplasms (t-MN). Consistent with previous reports, t-MN cells preferentially acquired mutations in TP53 and epigenetic modifying genes, instead of mutations in tyrosine kinase and spliceosome genes. Furthermore, we compared the mutation status of three t-MN cells with each of the initial lymphoid malignant cells, and identified common mutations among t-MN and the initial malignant cells in two patients. Read More

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http://dx.doi.org/10.1016/j.cancergen.2018.02.006DOI Listing
April 2018
5 Reads

Deletion of RUNX1 exons 1 and 2 associated with familial platelet disorder with propensity to acute myeloid leukemia.

Cancer Genet 2018 04 5;222-223:32-37. Epub 2018 Feb 5.

Departamento de Hematologia, Laboratório de Citogenética, Hospital das Clinicas HCFMUSP, Faculdade de Medicina FMUSP, Universidade de Sao Paulo, Sao Paulo, SP, BR Av. Dr. Eneas de Carvalho 255, Cerqueira César 01246-000, São Paulo, SP, Brazil; Hospital Israelita Albert Einstein. Av. Albert Einstein, 627/701 Morumbi 05652- 900 - São Paulo, SP, Brazil. Electronic address:

Familial platelet disorder with propensity to acute myeloid leukemia (FPD/AML) associated with RUNX1 mutations is an autosomal dominant disorder included in the group of the myeloid neoplasms with germ line predisposition. We describe two brothers who were diagnosed with hematological malignancies (one with AML and the other with T-cell lymphoblastic lymphoma). There was a history of leukemia in the paternal family and two of their siblings presented with low platelet counts and no history of significant bleeding. Read More

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http://dx.doi.org/10.1016/j.cancergen.2018.01.002DOI Listing
April 2018
10 Reads

Unexpected favorable outcome in a patient with high grade B-cell lymphoma with abnormalities of MYC, BCL6 and BCL2 loci.

Cancer Genet 2018 04 3;222-223:25-31. Epub 2018 Feb 3.

University of Arizona, Banner University Medical Center, United States; Cytogenetic Laboratory at Banner University Medical Center, United States; University of Arizona Genetic Core for Clinical Services Laboratory, Tucson, AZ, United States. Electronic address:

High grade B-cell lymphoma (HGBCL) by WHO 2016 classification requires rearrangements of MYC and BCL2 and/or BCL6, practically covering the so called "double-hit" or "triple hit" lymphomas. We report a case of HGBCL "triple-hit" lymphoma in a 64-year old female. Cytogenetic and fluorescence in situ hybridization (FISH) studies revealed complex karyotype including rearrangement of MYC to a novel, non-IG partner on chromosome 18, and rearrangement of BCL2, BCL6 and IGH as well as ins(3)(q21q27. Read More

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http://dx.doi.org/10.1016/j.cancergen.2018.01.003DOI Listing
April 2018
6 Reads

Biallelic TP53 gain of function mutations in rapidly progressing solid tumors.

Cancer Genet 2018 04 24;222-223:20-24. Epub 2018 Feb 24.

Department of Pathology, University of Iowa Hospitals and Clinics, Iowa City 52241, IA, USA . Electronic address:

Recent studies are discovering TP53 mutations with gain of function (GOF) properties that promote tumorigenesis via a variety of mechanisms. To our knowledge, all reported compound mutations are allelic. We identified two patients with biallelic GOF TP53 mutations in their tumors and a third with allelic compound variants. Read More

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http://dx.doi.org/10.1016/j.cancergen.2018.02.001DOI Listing
April 2018
7 Reads