631 results match your criteria Cancer Genetics [Journal]


Corrigendum to "The cancer COMPASS: Navigating the functions of MLL complexes in cancer" [Cancer Genetics 208 (2015) pp. 178-191].

Cancer Genet 2019 Mar 20. Epub 2019 Mar 20.

Molecular Biology and Biochemistry Graduate Program, Loyola University Chicago, Stritch School of Medicine, Maywood, IL, USA; Oncology Research Institute and Department of Pathology, Loyola University Chicago, Stritch School of Medicine, Maywood, IL, USA. Electronic address:

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http://dx.doi.org/10.1016/j.cancergen.2019.03.003DOI Listing

Untouchable genes in the human genome: Identifying ideal targets for cancer treatment.

Cancer Genet 2019 Feb 24;231-232:67-79. Epub 2019 Jan 24.

Department of Medicine, Baylor College of Medicine, One Baylor Plaza, Houston, TX 77030, United States.

Background: Usually, genes with a higher-than-expected number of somatic mutations in tumor samples are assumed to be cancer related. We identified genes with a fewer-than-expected number of somatic mutations - "untouchable genes".

Methods: To predict the expected number of somatic mutations, we used a linear regression model with the number of mutations in the gene as an outcome, and gene characteristics, including gene size, nucleotide composition, level of evolutionary conservation, expression level and others, as predictors. Read More

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http://dx.doi.org/10.1016/j.cancergen.2019.01.005DOI Listing
February 2019
1 Read

Embryonal rhabdomyosarcoma in a patient with a germline CBL pathogenic variant.

Cancer Genet 2019 Feb 30;231-232:62-66. Epub 2018 Dec 30.

Department of Pathology & Laboratory Medicine, Children's Hospital Los Angeles, Los Angeles, CA, USA; Department of Pathology, Keck School of Medicine, University of Southern California, Los Angeles, CA, USA.

Germline pathogenic variants in CBL are associated with an autosomal dominant RASopathy and an increased risk for malignancies, particularly juvenile myelomonocytic leukemia. Herein, we describe a patient with clinical features of a Noonan-spectrum disorder who developed embryonal rhabdomyosarcoma of the bladder at age two years. Tumor analysis using the OncoKids cancer panel revealed a CBL pathogenic variant: NM_005188. Read More

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http://dx.doi.org/10.1016/j.cancergen.2018.12.006DOI Listing
February 2019
3 Reads

Genomic landscape of synchronous tubulovillous adenoma and multiple non-familial colon cancers from a single patient.

Cancer Genet 2019 Feb 11;231-232:54-61. Epub 2019 Jan 11.

Department of Surgery, Gil Medical Center, Gachon University, Incheon, Republic of Korea. Electronic address:

Colorectal cancer (CRC) is one of the leading causes of cancer-related death. We analyzed genomic of non-familial tubulovillous adenoma (TVA) and two synchronous malignant colorectal adenocarcinomas from a single patient. The number of somatic mutations was higher in the tumor sample (especially, AV 50 cm adenocarcinoma sample) than TVA sample, and also the allele frequency of mutation was higher on colon adenocarcinoma samples than TVA. Read More

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http://dx.doi.org/10.1016/j.cancergen.2019.01.004DOI Listing
February 2019
2 Reads

Molecular evaluation of BRAF V600 mutation and its association with clinicopathological characteristics: First findings from Indian malignant melanoma patients.

Cancer Genet 2019 Feb 9;231-232:46-53. Epub 2019 Jan 9.

Research and Development, Division, SRL Ltd, Plot no.1, Prime Square building, S.V.Road, Goregaon (W), Mumbai, India. Electronic address:

Mutations in the BRAF gene have been described to occur in two-third of melanomas. The objective of the study was to establish the frequency of BRAF V600E/K/R mutation in a series of melanomas from Indian origin and to correlate mutation status with clinicopathological features. Seventy melanoma cases were evaluated for BRAF V600 mutation by pyrosequencing. Read More

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http://dx.doi.org/10.1016/j.cancergen.2019.01.003DOI Listing
February 2019
2 Reads
2.417 Impact Factor

RBM10 truncation in astroblastoma in a patient with history of mandibular ameloblastoma: A case report.

Cancer Genet 2019 Feb 9;231-232:41-45. Epub 2019 Jan 9.

Neuro-Oncology Branch, National Cancer Institute, National Institutes of Health, Bethesda, MD, United States. Electronic address:

Astroblastoma is a rare glial neoplasm composed of cells that have broad processes oriented perpendicular to central vessels and often demonstrate vascular sclerosis. The WHO 2016 classification does not specify a grading system for astroblastoma, and categorizes them as well-differentiated or malignant. These broad classification rubrics, however, do not accurately predict clinical outcome. Read More

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http://dx.doi.org/10.1016/j.cancergen.2019.01.001DOI Listing
February 2019
1 Read

A diagnosis of discernment: Identifying a novel ATRX mutation in myelodysplastic syndrome with acquired α-thalassemia.

Cancer Genet 2019 Feb 9;231-232:36-40. Epub 2019 Jan 9.

Department of Internal Medicine, University of Michigan, 1524 Basic Science Research Building, Ann Arbor, MI 48109, USA; Program in Cellular and Molecular Biology, University of Michigan, Ann Arbor, MI, USA. Electronic address:

Myelodysplastic syndromes (MDS) are a heterogeneous category of myeloid neoplasms that represent the most common class of acquired bone marrow failure syndromes in adults. MDS is typically associated with a hypoproliferative macrocytic anemia, but atypical findings on initial diagnostic evaluations can raise concern for a distinct pathophysiological process and lead to the investigation of alternative etiologies. Here, we report a case of MDS with a concomitant hypoproliferative microcytic and hypochromic anemia that led to the identification of acquired hemoglobin H due to a novel somatic ATRX mutation. Read More

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http://dx.doi.org/10.1016/j.cancergen.2019.01.002DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6391734PMC
February 2019
3 Reads

Novel pleiotropic BRCA2 pathogenic variants in Lebanese families.

Cancer Genet 2019 Feb 30;231-232:32-35. Epub 2018 Dec 30.

Medical Genetics Unit, Department of Pathology & Laboratory Medicine, American University of Beirut Medical Center, Beirut, Lebanon. Electronic address:

BRCA1 and BRCA2 associated pathogenic variants are the major cause of familial cases of early onset breast and ovarian cancers. Here we report two novel heterozygous pathogenic variants in exons 18 and 11 of the BRCA2 gene in two Lebanese families. The double nucleotide insertion c. Read More

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http://dx.doi.org/10.1016/j.cancergen.2018.12.005DOI Listing
February 2019
1 Read

Down-regulation of miR-9 promotes epithelial mesenchymal transition via regulating anoctamin-1 (ANO1) in CRC cells.

Cancer Genet 2019 Feb 27;231-232:22-31. Epub 2018 Dec 27.

Department of Internal Medicine, Chonbuk National University Hospital, Chonbuk National University Medical School, 20 Geonji-ro, Deokjin-gu, Jeonju, Jeonbuk 54907, Republic of Korea; Research Institute of Clinical Medicine of Chonbuk National University-Biomedical Research Institute of Chonbuk National University Hospital, Jeonju, Republic of Korea. Electronic address:

MicroRNA-9 (miR-9) has been reported to play a suppressive or promoting role according to cancer type. In this study, we investigated the effects of anoctamin-1 (ANO1) and miR-9 on colorectal cancer (CRC) cell proliferation, migration, and invasion and determined the underlying molecular mechanisms. Thirty-two paired CRC tissues and adjacent normal tissues were analyzed for ANO1 expression using quantitative real-time PCR (qRT-PCR). Read More

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http://dx.doi.org/10.1016/j.cancergen.2018.12.004DOI Listing
February 2019
2 Reads

Influence of bcr-3 PML-RARα transcript on outcome in Acute Promyelocytic Leukemia patients of Kashmir treated with all-trans retinoic acid and/or arsenic tri-oxide.

Cancer Genet 2019 Feb 29;231-232:14-21. Epub 2018 Dec 29.

Department of Education, Srinagar, J&K India.

Aims: Distinct types of PML-RARα hybrid transcripts viz bcr-1, bcr-2 and bcr-3 result from translocation between chromosomes 15 and 17 t(15;17) in Acute Promyelocytic Leukemia patients. We aimed to determine the frequencies of the PML-RARα transcripts and FLT3-ITD mutations in APL patients to evaluate their prognostic implications and also to analyze their impact on disease outcome.

Main Method: RT-PCR and Rq-PCR were adopted for transcript typing and quantitation of PML-RARα transcripts while FLT3-ITD was detected by PCR in APL patients. Read More

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http://dx.doi.org/10.1016/j.cancergen.2018.12.003DOI Listing
February 2019
1 Read

Multidisciplinary analysis of pediatric T-ALL: 9q34 gene fusions.

Cancer Genet 2019 Feb 12;231-232:1-13. Epub 2018 Dec 12.

Laboratory Corporation of America, 1904 TW Alexander Drive, Research Triangle Park, NC 27709, United States. Electronic address:

T-cell acute lymphoblastic leukemia (T-ALL) is not as frequently reported as the B-cell counterpart (B-ALL), only occurring in about 15% of pediatric cases with a typically heterogeneous etiology. Approximately 8% of childhood T-ALL cases have rearrangements involving the ABL1 tyrosine kinase gene at 9q34.12; although a t(9;22), resulting in a fusion of ABL1 with the BCR gene at 22q11. Read More

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http://dx.doi.org/10.1016/j.cancergen.2018.12.002DOI Listing
February 2019

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
1 Read

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
3 Reads

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
14 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 12 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 12 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
2 Reads

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

Cancer Genet 2018 12 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 12 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
9 Reads

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

Cancer Genet 2018 12 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
2 Reads

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 12 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
3 Reads

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

Cancer Genet 2018 12 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
2 Reads

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

Cancer Genet 2018 12 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
5 Reads

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

Cancer Genet 2018 12 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
8 Reads

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

Cancer Genet 2018 12 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
4 Reads
2.417 Impact Factor

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

Cancer Genet 2018 12 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
12 Reads

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

Cancer Genet 2018 12 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
4 Reads

Evaluation of commercial kits for purification of circulating free DNA.

Cancer Genet 2018 12 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
16 Reads

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

Authors:
Schwartz Stuart

Cancer Genet 2018 12;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
2 Reads

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

Cancer Genet 2018 12 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
7 Reads

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

Cancer Genet 2018 12 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
3 Reads

Clinical impact of MYC abnormalities in plasma cell myeloma.

Cancer Genet 2018 12 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 12 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
11 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 12 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
3 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
16 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
2 Reads
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
15 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
11 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 12 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
43 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 12 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
9 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 12 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
24 Reads

SH2B3 aberrations enriched in iAMP21 B lymphoblastic leukemia.

Cancer Genet 2018 10 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
18 Reads

Differentially expressed LncRNAs as potential prognostic biomarkers for glioblastoma.

Cancer Genet 2018 10 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 10 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 10 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
30 Reads
2.420 Impact Factor

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

Cancer Genet 2018 10 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