6,930 results match your criteria Cancer genetics and cytogenetics[Journal]


A pericentric inv(9)(p22q34) of the der(9)t(9;22)(q34;q11.2) is a recurrent secondary anomaly in Ph-positive leukemia.

Cancer Genet Cytogenet 2010 Dec;203(2):333-40

The First Affiliated Hospital of Soochow University, Jiangsu Institute of Hematology, Key Laboratory of Thrombosis and Hemostasis, 188 Shizi Street, Suzhou 215006, PR China.

A pericentric inv(9)(p22q34) of the derivative chromosome 9 that resulted from a standard t(9;22)(q34;q11.2) was identified by R-banding karyotypic analysis and fluorescence in situ hybridization (FISH) assays in 4 (0.18%) of 2,200 Philadelphia chromosome (Ph)-positive leukemia patients, including 3 with chronic myeloid leukemia (CML) in chronic phase and 1 with acute myeloid leukemia (AML) in our hospital since 2004. Read More

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http://dx.doi.org/10.1016/j.cancergencyto.2010.05.009DOI Listing
December 2010
44 Reads

Translocation (3;8)(q27;q24) in two cases of triple hit lymphoma.

Cancer Genet Cytogenet 2010 Dec;203(2):328-32

Hematology Service, Hospital Universitari Germans Trias i Pujol, Badalona, Spain.

Unclassifiable lymphoma with features intermediate between diffuse large B-cell lymphoma and Burkitt lymphoma is a new category of B-cell lymphoma appearing in the new World Health Organization Classification of Tumours of Haematopoietic and Lymphoid Tissues. This lymphoma usually shows MYC rearrangements with non-IGH genes in the setting of a complex karyotype possibly involving BCL2 and, less frequently, BCL6 rearrangements. According to the presence of two or three rearrangements, these lymphomas are called double-hit lymphomas or triple-hit lymphomas (THL), respectively. Read More

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http://dx.doi.org/10.1016/j.cancergencyto.2010.08.018DOI Listing
December 2010
21 Reads

Screening for DNA copy number aberrations in mucinous adenocarcinoma arising from the minor salivary gland: two case reports.

Cancer Genet Cytogenet 2010 Dec;203(2):324-7

Department of Oral and Maxillofacial Surgery, Yamaguchi University School of Medicine, 1-1-1 Minami-Kogushi, Ube, Yamaguchi 755-8505, Japan.

Mucinous adenocarcinoma (MAC) is a rare malignancy in the minor salivary gland. To our knowledge, genomic alterations in this tumor have not been reported previously. To identify DNA copy number aberrations, we applied comparative genomic hybridization (CGH) to four samples of MAC in minor salivary gland derived from two patients: a primary tumor and two cervical metastatic lymph nodes from one patient, and a primary tumor from the other patient. Read More

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http://dx.doi.org/10.1016/j.cancergencyto.2010.08.027DOI Listing
December 2010
21 Reads

Screening for common copy-number variants in cancer genes.

Cancer Genet Cytogenet 2010 Dec;203(2):316-23

Institute of Genetics, School of Biology, University of Nottingham, Queen's Medical Centre, Nottingham NG7 2UH, United Kingdom.

For most cases of colorectal cancer that arise without a family history of the disease, it is proposed that an appreciable heritable component of predisposition is the result of contributions from many loci. Although progress has been made in identifying single nucleotide variants associated with colorectal cancer risk, the involvement of low-penetrance copy number variants is relatively unexplored. We have used multiplex amplifiable probe hybridization (MAPH) in a fourfold multiplex (QuadMAPH), positioned at an average resolution of one probe per 2 kb, to screen a total of 1. Read More

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http://dx.doi.org/10.1016/j.cancergencyto.2010.08.008DOI Listing
December 2010
8 Reads

Trisomy 17 in congenital plexiform (multinodular) cellular schwannoma.

Cancer Genet Cytogenet 2010 Dec;203(2):313-5

Department of Pediatric Hematology/Oncology, Giannina Gaslini Institute, Genova, Italy.

Plexiform (multinodular) cellular schwannomas are rare tumors, not associated with neurofibromatosis type 1, that occur more often in children and can be congenital. Their biology is benign and is characterized by the tendency to recur locally without being metastatic. Cytogenetic studies in adult cases of schwannoma indicate a complete or partial loss of chromosome 22 as the most common abnormality. Read More

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http://dx.doi.org/10.1016/j.cancergencyto.2010.08.003DOI Listing
December 2010
28 Reads
1 Citation

Chromosomal alterations in Malaysian patients with nasopharyngeal carcinoma analyzed by comparative genomic hybridization.

Cancer Genet Cytogenet 2010 Dec;203(2):309-12

Human Genome Center, Universiti Sains Malaysia, Jalan Raja Perempuan Zainab I, 16150 Kubang Kerian, Kelantan, Malaysia.

Nasopharyngeal carcinoma (NPC) is one of the most common cancers in Malaysia, mainly occurring among the Chinese population. To detect common genetic alterations in NPC, we screened seven cases of NPC using the comparative genomic hybridization (CGH) technique. Before proceeding to the CGH technique, the tumors were first confirmed to consist of 75% tumor cells or more. Read More

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http://dx.doi.org/10.1016/j.cancergencyto.2010.07.136DOI Listing
December 2010
2 Reads

Three rearrangements of chromosome 5 in a patient with myelodysplastic syndrome: an atypical deletion 5q, a complex intrachromosomal rearrangement of chromosome 5, and a paracentric inversion of chromosome 5.

Cancer Genet Cytogenet 2010 Dec;203(2):303-8

Laboratoire d'Histologie, Embryologie et Cytogénétique, Faculté de Médecine et des Sciences de la Santé, Université de Bretagne Occidentale, Brest, France.

We report the case of a 74-year-old man who sought care for de novo myelodysplastic syndrome (RAEB-1). Conventional cytogenetic techniques showed a karyotype with two different deletions of the long arm of chromosome 5 distributed in three clones: 46,XY,del(1)(p34),del(5)(q14q23)[2]/46,XY,del(1)(p34),del(5)(q14q34)[10]/46,idem,inv(5)(q?11q?34)[7]. Precise characterization of the breakpoints, delineation of the deleted regions, identification of the complex intrachromosomal rearrangement of chromosome 5, and sequential accumulation of chromosomal abnormalities were elucidated by several fluorescence in situ hybridization analyses. Read More

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http://dx.doi.org/10.1016/j.cancergencyto.2010.07.129DOI Listing
December 2010
8 Reads

The t(6;9)(p22;q34) in myeloid neoplasms: a retrospective study of 16 cases.

Cancer Genet Cytogenet 2010 Dec;203(2):297-302

Cytogenetics Unit, Christian Medical College, Ida Scudder Road, Vellore 632004, India.

Among patients with acute myeloid leukemia (AML), the t(6;9) (p22;q34) is a rare but defined subset with a poor prognosis. We report 16 patients with the t(6;9), of whom 13 had AML, 2 had myelodysplastic syndrome (MDS), and 1 had chronic myeloid leukemia in myeloid blast crisis (CML-BC). All except for one were evaluated at diagnosis. Read More

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http://dx.doi.org/10.1016/j.cancergencyto.2010.08.012DOI Listing
December 2010
23 Reads

FLT3-internal tandem duplication in a pediatric patient with t(8;21) acute myeloid leukemia.

Cancer Genet Cytogenet 2010 Dec;203(2):292-6

Department of Pediatrics, Tokyo Metropolitan Cancer and Infectious Disease Center Komagome Hospital, 3-18-22 Honkomagome, Bunkyo-ku, Tokyo 113-8677, Japan.

Patients diagnosed with t(8;21)-acute myeloid leukemia (AML) are currently considered to have good prognoses, but about half of these patients relapse. FLT3-internal tandem duplication (ITD) is generally thought to be strongly associated with poor prognosis in AML, but is rarely reported in patients with t(8;21)-AML. Expression of the neural cell-adhesion molecule (CD56) is also associated with a significantly shorter complete remission duration and survival in patients with t(8;21)-AML. Read More

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http://dx.doi.org/10.1016/j.cancergencyto.2010.07.130DOI Listing
December 2010
3 Reads

Therapy-related acute myeloid leukemia with t(2;11)(q37;q23) after treatment for osteosarcoma.

Cancer Genet Cytogenet 2010 Dec;203(2):288-91

Department of Pediatric Hematology-Oncology, Safra Children's Hospital, Tel-Hashomer, Israel.

The survival rate for children with osteosarcoma (OS) has improved dramatically with the introduction of multiagent chemotherapy. As the number of pediatric cancer survivors increases, there is a concern about the development of secondary malignant neoplasms. Secondary acute myeloid leukemia (AML) has been rarely reported after treatment for OS. Read More

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http://dx.doi.org/10.1016/j.cancergencyto.2010.08.002DOI Listing
December 2010
19 Reads

B lymphoblastic leukemia with ETV6 amplification.

Cancer Genet Cytogenet 2010 Dec;203(2):284-7

Department of Laboratory Medicine, College of Medicine, The Catholic University of Korea, 505 Banpo-dong, Seocho-gu, Seoul 137-701, Korea.

We present a case of acute lymphoblastic leukemia caused by ETV6 amplification. Although the cytogenetic result revealed complex karyotype, multicolor fluorescence in situ hybridization and high-resolution multicolor banding supported amplification of a gene on 12p13. Fluorescence in situ hybridization with ETV6 probe confirmed the amplification. Read More

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http://dx.doi.org/10.1016/j.cancergencyto.2010.08.004DOI Listing
December 2010
28 Reads

FISH-negative cryptic PML-RARA rearrangement detected by long-distance polymerase chain reaction and sequencing analyses: a case study and review of the literature.

Cancer Genet Cytogenet 2010 Dec;203(2):278-83

Department of Laboratory Medicine, School of Medicine, Kyung Hee University, 1 Hoegi-dong, Dongdaemun-gu, Seoul 130-702, Korea.

Although a normal karyotype according to conventional cytogenetic analysis in association with cryptic t(15;17) has been infrequently reported in cases of acute promyelocytic leukemia (APL), a fluorescence in situ hybridization (FISH)-negative cryptic PML-RARA rearrangement is even more rare, with only 12 such APL cases of FISH-negative cryptic PML-RARA rearrangements in the literature. Reported here is an additional clinical APL case with a FISH-negative cryptic PML-RARA rearrangement, confirmed by long-distance DNA polymerase chain reaction method. Discussion includes a relevant literature review of similar cases. Read More

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http://linkinghub.elsevier.com/retrieve/pii/S016546081000489
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http://dx.doi.org/10.1016/j.cancergencyto.2010.08.026DOI Listing
December 2010
23 Reads

Correlation between clinical characteristics, survival and genetic alterations in patients with hepatocellular carcinoma from Saudi Arabia.

Cancer Genet Cytogenet 2010 Dec;203(2):269-77

Biological and Medical Research MBC 03, King Faisal Specialist Hospital and Research Centre, Box 3344 MBC-03, Riyadh 11211, Saudi Arabia.

Amplification of the two oncogenes ERBB2 and MYC and deletion of the tumor suppressor gene TP53 are frequently encountered in cancerous tissues. The purpose of this study was to use the fluorescence in situ hybridization (FISH) technique for the assessment of ERBB2 and MYC amplification and TP53 deletion, and to relate these molecular markers to clinical and pathologic factors in Saudi patients with hepatocellular carcinoma. The study was conducted on 40 paraffin-embedded tissue samples originally taken from either hepatitis C virus (HCV)- or HBV-infected patients using the FISH technique. Read More

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http://dx.doi.org/10.1016/j.cancergencyto.2010.08.011DOI Listing
December 2010
6 Reads

Role of TP53 Arg72Pro polymorphism in urinary bladder cancer predisposition and predictive impact of proline related genotype in advanced tumors in an ethnic Kashmiri population.

Cancer Genet Cytogenet 2010 Dec;203(2):263-8

Department of Immunology and Molecular Medicine, Sher-I-Kashmir Institute of Medical Sciences, Soura, Srinagar, Kashmir, India.

Among various polymorphic variants of TP53 gene, codon 72 polymorphism (Arg72Pro) has been found to be associated with cancer susceptibility, but only few studies have investigated their effect on bladder cancer risk. A case-control study was conducted and we observed the genotype distribution of TP53 Arg72Pro SNP, to elucidate the possible role of this SNP as risk factor in urinary bladder cancer (UBC) development and to examine its correlation with the clinicopathologic variables of UBC cases. Using the polymerase chain reaction-restriction fragment length polymorphism approach, we tested the genotype distribution of 108 bladder cancer patients in comparison with 138 cancer-free controls from the same geographical region. Read More

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http://dx.doi.org/10.1016/j.cancergencyto.2010.08.010DOI Listing
December 2010
10 Reads
2 Citations

Urine from current smokers induces centrosome aberrations and spindle defects in vitro in nonmalignant human cell lines.

Cancer Genet Cytogenet 2010 Dec;203(2):253-62

Abteilung für Urologie, Medizinische Fakultät Mannheim der Universität Heidelberg, Theodor-Kutzer-Ufer 1-3, 68167 Mannheim, Germany.

Tobacco smoke containing numerous derived chemical carcinogens is the main risk factor for urothelial carcinoma. These carcinogens can induce DNA damage leading to chromosomal instability, which plays a fundamental role in urothelial carcinogenesis. Possible mechanisms could be centrosomal aberrations, which cause defective spindles and may be responsible for genetic instability. Read More

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http://dx.doi.org/10.1016/j.cancergencyto.2010.07.135DOI Listing
December 2010
24 Reads
3 Citations

6p21 rearrangements in uterine leiomyomas targeting HMGA1.

Cancer Genet Cytogenet 2010 Dec;203(2):247-52

Center for Human Genetics, University of Bremen, Leobener Str. ZHG, D-28359 Bremen, Germany.

To quantify the expression of HMGA1 mRNA in uterine leiomyomas, the expression of HMGA1 was analyzed in a series including tumors with aberrations of chromosome 6 (n = 7) and cytogenetically normal tumors (n = 8) as a control group by quantitative reverse transcriptase-polymerase chain reaction. The average expression level in the 6p21 group was found to be 5.6 times higher than that in the control group, and with one exception, all cases with 6p21 alteration revealed a high expression of HMGA1 mRNA than cytogenetically normal tumors. Read More

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http://dx.doi.org/10.1016/j.cancergencyto.2010.08.005DOI Listing
December 2010
29 Reads

Evaluation of upper urinary tract tumors by FISH in Chinese patients.

Cancer Genet Cytogenet 2010 Dec;203(2):238-46

Department of Urology, Nan fang Hospital, Southern Medical University, No. 1838 North Guangzhou avenue, Guangzhou 510515, People's Republic of China.

Upper urinary tract tumor (UUTT) usually presents a high grade and stage, and recurs frequently. The aim of this study was to evaluate the utility of a fluorescence in situ hybridization (FISH) assay on chromosomes 3, 7, 9, and 17 as a reliable and noninvasive method for the diagnosis of Chinese patients with UUTT. Urine specimens from 50 patients with UUTT and 25 donors without evidence of urothelial tumors were analyzed by cytology and FISH. Read More

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http://dx.doi.org/10.1016/j.cancergencyto.2010.07.133DOI Listing
December 2010
6 Reads

Germline mutations of BRCA1 and BRCA2 genes in Turkish breast, ovarian, and prostate cancer patients.

Cancer Genet Cytogenet 2010 Dec;203(2):230-7

Faculty of Medicine, Department of Medical Biology and Genetics, Akdeniz University, Antalya 07070, Turkey.

Distribution and prevalence of germline mutations in BRCA1 and BRCA2 differ among different populations. For the Turkish population, several studies have addressed high-risk breast cancer and ovarian cancer (BC-OC) patients. In most studies, both genes were analyzed in part, and a quite heterogeneous mutation spectrum was observed. Read More

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http://dx.doi.org/10.1016/j.cancergencyto.2010.07.125DOI Listing
December 2010
166 Reads

EGFR expression and gene copy number in triple-negative breast carcinoma.

Cancer Genet Cytogenet 2010 Dec;203(2):222-9

2nd Pathology Department, Ankara Diskapi Yildirim Beyazit Education and Research Hospital, Irfan Bastug cad. Diskapi, Ankara 06110, Turkey.

Most basal-like breast carcinomas are estrogen receptor negative, progesterone receptor negative, and cerb-B2/HER-2/neu negative--the so-called triple-negative breast carcinomas--with high epidermal growth factor receptor (EGFR) expression, which makes EGFR a target of treatment. We evaluated EGFR expression by immunohistochemistry (IHC) with two different clones (EGFR.31G7 and EGFR. Read More

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http://dx.doi.org/10.1016/j.cancergencyto.2010.07.118DOI Listing
December 2010
4 Reads

GSTT1 copy number gain is a poor predictive marker for escalated-dose imatinib treatment in chronic myeloid leukemia: genetic predictive marker found using array comparative genomic hybridization.

Cancer Genet Cytogenet 2010 Dec;203(2):215-21

Department of Internal Medicine, Seoul National University Hospital, Seoul National University, 101 Daehagro, Jongno-Ku, Seoul 110-744, Korea.

In a study population of 45 patients who were previously enrolled in an imatinib dose escalation trial, genome-wide screening for regions of genetic gains and losses was performed using array comparative genomic hybridization (aCGH). Early molecular response (EMR), defined as >50% reduction in the ratio of BCR-ABL1 to ABL1 within 6 months after dose escalation, was a major endpoint for analysis. After aCGH analysis, copy number change of four genes was investigated in 52 patients as a validation. Read More

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http://linkinghub.elsevier.com/retrieve/pii/S016546081000485
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http://dx.doi.org/10.1016/j.cancergencyto.2010.08.022DOI Listing
December 2010
20 Reads

Clonal heterogeneity and chromosomal instability at disease presentation in high hyperdiploid acute lymphoblastic leukemia.

Cancer Genet Cytogenet 2010 Dec;203(2):209-14

Cancer Cytogenetics Unit, Medical Genetics Service, University Hospital and University of Lausanne, Lausanne, Switzerland.

Although aneuploidy has many possible causes, it often results from underlying chromosomal instability (CIN) leading to an unstable karyotype with cell-to-cell variation and multiple subclones. To test for the presence of CIN in high hyperdiploid acute lymphoblastic leukemia (HeH ALL) at diagnosis, we investigated 20 patients (10 HeH ALL and 10 non-HeH ALL), using automated four-color interphase fluorescence in situ hybridization (I-FISH) with centromeric probes for chromosomes 4, 6, 10, and 17. In HeH ALL, the proportion of abnormal cells ranged from 36. Read More

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http://dx.doi.org/10.1016/j.cancergencyto.2010.09.005DOI Listing
December 2010
2 Reads

Human fetal/tumor metakaryotic stem cells: pangenomic homologous pairing and telomeric end-joining of chromatids.

Cancer Genet Cytogenet 2010 Dec;203(2):203-8

Department of Biological Engineering, Massachusetts Institute of Technology, 77 Massachusetts Ave, Cambridge, MA 02139, USA.

Metakaryotic cells and syncytia with large, hollow, bell-shaped nuclei demonstrate symmetrical and asymmetrical amitotic nuclear fissions in microanatomical positions and numbers expected of stem cell lineages in tissues of all three primordial germ layers and their derived tumors. Using fluorescence in situ hybridization, mononuclear metakaryotic interphase cells have been found with only 23 centromeric and 23 telomeric staining regions. Syncytial bell-shaped nuclei found approximately during weeks 5-12 of human gestation display 23 centromeric and either 23 or 46 telomeric staining regions. Read More

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http://dx.doi.org/10.1016/j.cancergencyto.2010.08.015DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4044826PMC
December 2010
9 Reads

Cytogenetic features of 5q deletion and 5q- syndrome in myelodysplastic syndrome in Korea; marker chromosomes proved to be chromosome 5 with interstitial deletion by fluorescence in situ hybridization.

Cancer Genet Cytogenet 2010 Dec;203(2):193-202

Department of Laboratory Medicine, Seoul National University College of Medicine, 101 Daehakro, Jongno-gu, Seoul 110-744, Korea.

We characterized the cytogenetic changes and prognostic characteristics of 133 Korean patients with myelodysplastic syndrome (MDS), focusing on 5q- syndrome and MDS with chromosome abnormalities involving 5q deletion according to World Health Organization 2008 classification. In all patients, G banding and fluorescence in situ hybridization for 5q were performed, and in MDS patients with 5q deletion, the deleted region on chromosome 5 was mapped with fluorescence in situ hybridization for EGR1, CSF1R, and PDGFRB. The frequency of isolated del(5q) syndrome and 5q deletion was 2. Read More

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http://dx.doi.org/10.1016/j.cancergencyto.2010.08.007DOI Listing
December 2010
54 Reads
2 Citations

Acute myeloid leukemia associated with t(1;3)(p36;q21) and extreme thrombocytosis: a clinical study with literature review.

Cancer Genet Cytogenet 2010 Dec;203(2):187-92

Department of Laboratory Medicine, School of Medicine, Kyung Hee University, 1 Hoegi-dong, Dongdaemun-gu, Seoul 130-702, Korea.

We present an unusual case study on acute myeloid leukemia associated with t(1;3) and extreme thrombocytosis, along with a thorough review on relevant literature of t(1;3) cases (58 patients). On the basis of this study and literature review, thrombocytosis (>400,000/μL) is a relatively common finding in one third of patients with t(1;3), whereas increase of platelet count by more than 1,000,000/μL is an extremely rare phenomenon, even among patients with t(1;3). To our knowledge, this study is the only documented case that recorded more than 2,000,000/μL of extreme thrombocytosis in a de novo acute myeloid leukemia patient with t(1;3) at initial diagnosis. Read More

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http://dx.doi.org/10.1016/j.cancergencyto.2010.08.001DOI Listing
December 2010
29 Reads

Numerical chromosomal changes and risk of development of myelodysplastic syndrome--acute myeloid leukemia in patients with Fanconi anemia.

Cancer Genet Cytogenet 2010 Dec;203(2):180-6

Division of Bone Marrow Transplantation and Immune Deficiency, Cancer and Blood Diseases Institute, Cincinnati Children's Hospital Medical Center, Cincinnati, OH 45229, USA.

Fanconi Anemia (FA) is an inherited bone marrow failure syndrome characterized by congenital abnormalities, progressive marrow failure and predisposition to myelodysplastic syndrome (MDS), acute myeloid leukemia (AML), and solid tumors. The most common acquired chromosomal aberrations in FA patients are trisomy of 1q and monosomy of chromosome 7; the latter is known to be associated with poor prognosis. A few reports also suggest that gains of 3q are associated with progression to MDS-AML and overall poor prognosis. Read More

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http://dx.doi.org/10.1016/j.cancergencyto.2010.07.127DOI Listing
December 2010
35 Reads

Examination of copy number variations of CHST9 in multiple types of hematologic malignancies.

Cancer Genet Cytogenet 2010 Dec;203(2):176-9

Department of Hematology, Peking University People's Hospital, Peking University Institute of Hematology, #11, South Street of Xi-Zhi-Men, 100044 Beijing, China.

Carbohydrate N-acetylgalactosamine 4-0 sulfotransferase 9 (CHST9) belongs to the N-acetylgalactosamine 4-sulfotransferase (GalNAc4ST) family. A recent array-based study implicated the presence of copy-number variations (CNV) of the region encompassing CHST9 in the genomes of acute myelogenous leukemia. Most of the current studies, however, focused on the genome-wide screening of CNV, and the functional impact of such regions needs to be extensively investigated in large amounts of clinical samples. Read More

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http://dx.doi.org/10.1016/j.cancergencyto.2010.07.132DOI Listing
December 2010
10 Reads

Correlation of cytomorphology, immunophenotyping, and interphase fluorescence in situ hybridization in 381 patients with monoclonal gammopathy of undetermined significance and 301 patients with plasma cell myeloma.

Cancer Genet Cytogenet 2010 Dec;203(2):169-75

Clinic for Stem Cell Transplantation, University Cancer Center Hamburg, Martinistr 52, 20246 Hamburg, Germany.

To further clarify the transformation from monoclonal gammopathy of undetermined significance (MGUS) to plasma cell myeloma (PCM), we compared interphase fluorescence in situ hybridization (FISH) patterns in 381 MGUS and 301 PCM patients. According to the World Health Organization and the International Myeloma Working Group, a threshold of 10% of bone marrow plasma cells separated MGUS from PCM. After magnetic activated cell sorting for CD138(+) cells, FISH succeeded in 272 of 301 (90. Read More

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http://dx.doi.org/10.1016/j.cancergencyto.2010.08.006DOI Listing
December 2010
10 Reads

Progressive but previously untreated CLL patients with greater array CGH complexity exhibit a less durable response to chemoimmunotherapy.

Cancer Genet Cytogenet 2010 Dec;203(2):161-8

Mayo Clinic, 200 First Street SW, Rochester, MN 55905, USA.

To better understand the implications of genomic instability and outcome in B-cell chronic lymphocytic leukemia (CLL), we sought to address genomic complexity as a predictor of chemosensitivity and ultimately clinical outcome in this disease. We used array-based comparative genomic hybridization (aCGH) with a one-million probe array and identified gains and losses of genetic material in 48 patients treated on a chemoimmunotherapy clinical trial. We identified chromosomal gain or loss in ≥6% of the patients on chromosomes 3, 8, 9, 10, 11, 12, 13, 14, and 17. Read More

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http://linkinghub.elsevier.com/retrieve/pii/S016546081000492
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http://dx.doi.org/10.1016/j.cancergencyto.2010.09.003DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3026606PMC
December 2010
6 Reads

Gene dosage effects in chronic lymphocytic leukemia.

Cancer Genet Cytogenet 2010 Dec;203(2):149-60

Department of Hematology, Medical Faculty, University of Duisburg-Essen, Hufelandstraße 55, 45122 Essen, Germany.

To understand the influence of chromosomal alterations on gene expression in a genome-wide view, chromosomal imbalances detected by single nucleotide polymorphism (SNP) chips were compared with global gene expression in 16 cases of chronic lymphocytic leukemia (CLL). A strong concordance between chromosomal gain or loss and increased or reduced expression of genes in the affected regions was found, respectively. Regions of uniparental disomy (UPD) were rare and had usually no consistent influence on gene expression, but in one instance, a large UPD was associated with a downregulation of most genes in the affected chromosome. Read More

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http://dx.doi.org/10.1016/j.cancergencyto.2010.09.002DOI Listing
December 2010
93 Reads

Standardization of fluorescence in situ hybridization studies on chronic lymphocytic leukemia (CLL) blood and marrow cells by the CLL Research Consortium.

Cancer Genet Cytogenet 2010 Dec;203(2):141-8

Cytogenetics, Division of Laboratory Genetics, Department of Laboratory Medicine, 200 First Street SW, Rochester, MN 55905, USA.

Five laboratories in the Chronic Lymphocytic Leukemia (CLL) Research Consortium (CRC) investigated standardizing and pooling of fluorescence in situ hybridization (FISH) results as a collaborative research project. This investigation used fixed bone marrow and blood cells available from previous conventional cytogenetic or FISH studies in two pilot studies, a one-day workshop, and proficiency test. Multiple FISH probe strategies were used to detect 6q-, 11q-, +12, 13q-, 17p-, and IGH rearrangements. Read More

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https://linkinghub.elsevier.com/retrieve/pii/S01654608100045
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http://dx.doi.org/10.1016/j.cancergencyto.2010.08.009DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3763815PMC
December 2010
9 Reads

Stimulation of chronic lymphocytic leukemia cells with CpG oligodeoxynucleotide gives consistent karyotypic results among laboratories: a CLL Research Consortium (CRC) Study.

Cancer Genet Cytogenet 2010 Dec;203(2):134-40

The Ohio State University, 1645 Neil Ave, 129 Hamilton Hall, Columbus, OH 43210, USA.

Cytogenetic abnormalities are important prognostic indicators in CLL. Historically, only interphase cytogenetics was clinically useful in CLL, because traditional mitogens are not effective mitotic stimulants. Recently, CpG-oligodeoxynucleotide (ODN) stimulation has shown effectiveness in CLL cells. Read More

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http://dx.doi.org/10.1016/j.cancergencyto.2010.07.128DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3018693PMC
December 2010
29 Reads

MicroRNA in chronic lymphocytic leukemia: transitioning from laboratory-based investigation to clinical application.

Cancer Genet Cytogenet 2010 Dec;203(2):127-33

Division of Pulmonary, Allergy, Critical Care and Sleep Medicine, James Comprehensive Cancer Center, The Ohio State University, 473 West 12th Avenue, Columbus, Ohio 43210, USA.

Chronic lymphocytic leukemia (CLL) is the most common form of leukemia among adults in the Western world, with an incidence of approximately 1 out of 100,000 patients per year. CLL is characterized by the clonal expansion of immature CD5(+) B cells. Although cytotoxic agents remain the mainstay of therapy, the disease of up to 20% of patients is not controlled with standard therapies. Read More

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http://dx.doi.org/10.1016/j.cancergencyto.2010.09.007DOI Listing
December 2010
12 Reads

Cytogenetics and genetics of human cancer: methods and accomplishments.

Cancer Genet Cytogenet 2010 Dec;203(2):102-26

Cytogenetic and related changes in human cancer constitute part of a constantly developing and enlarging continuum of known genetic alterations associated with cancer development and biology. The cytogenetic component of this continuum has fulfilled much of its pioneering role and now constitutes a small but dynamic segment of the vast literature on cancer genetics, in which it has played an important if not initiating role. The goals of this article are (a) to address historical and methodological aspects of cancer cytogenetics; (b) to present information on diagnostic translocations in leukemias, lymphomas, bone and soft tissue tumors, and carcinomas; (c) to connect some of these chromosomal aberrations with their molecular equivalents; and (d) to describe anomalies in some solid tumors indicative of the complexity of the genomic alterations in cancer. Read More

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http://dx.doi.org/10.1016/j.cancergencyto.2010.10.004DOI Listing
December 2010
4 Reads

The 'omics' of cancer.

Cancer Genet Cytogenet 2010 Nov;203(1):37-42

Department of Human Genetics, Radboud University Nijmegen Medical Center, Nijmegen Center for Molecular Life Sciences, Radboud University Center for Oncology, P.O. Box 9101, 6500 HB Nijmegen, The Netherlands.

After the first draft sequence of the human genome was announced by the International Human Genome Sequencing Consortium and Celera Genomics in February 2001, this and subsequent sequences have been instrumental for the systematic analysis of various human genomes, including the cancer genome. Now we are moving into an era in which comprehensive sequence-based information on vast numbers of tumors can be obtained. Such information can provide novel and detailed perspectives on how individual tumors develop. Read More

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http://dx.doi.org/10.1016/j.cancergencyto.2010.08.023DOI Listing
November 2010
5 Reads

Solid tumors associated with multiple endocrine neoplasias.

Cancer Genet Cytogenet 2010 Nov;203(1):30-6

Section on Endocrinology and Genetics, Program on Developmental Endocrinology and Genetics, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Building 10, CRC, Room I-3330, 10 Center Dr., MSC 1103, Bethesda, MD 20892, USA.

We present an update on molecular and clinical genetics of solid tumors associated with the various multiple endocrine neoplasias (MEN) syndromes. MEN type 1 (MEN1) describes the association of pituitary, parathyroid, and pancreatic islet cell tumors with a variety of many other lesions. MEN type 2 (MEN2) conditions represent at least four different syndromes that associate pheochromocytoma with medullary thyroid carcinoma, hyperparathyroidism, and a number of other manifestations. Read More

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http://dx.doi.org/10.1016/j.cancergencyto.2010.09.006DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2957471PMC
November 2010
1 Read

Cytogenetic and molecular events in adenoma and well-differentiated thyroid follicular-cell neoplasia.

Cancer Genet Cytogenet 2010 Nov;203(1):21-9

Dipartimento di Scienze e Tecnologie Biomediche, Università di Cagliari, Cittadella Universitaria, SS554, 09042 Monserrato (CA), Italy.

In spite of its simple organization, the thyroid gland can give rise to a wide spectrum of neoplasms, ranging from innocuous to highly malignant lesions. Approximately 94% of the malignancies is represented by well-differentiated thyroid carcinoma originating from follicular cells. These neoplasms are divided into two main categories, papillary thyroid carcinoma and follicular thyroid carcinoma. Read More

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http://dx.doi.org/10.1016/j.cancergencyto.2010.08.025DOI Listing
November 2010
3 Reads

NUT midline carcinoma.

Cancer Genet Cytogenet 2010 Nov;203(1):16-20

Department of Pathology, Brigham and Women's Hospital, 75 Francis Street, Boston, MA 02115, USA.

NUT midline carcinoma (NMC) is a rare, aggressive human cancer, genetically defined by rearrangements of the gene NUT (HUGO symbol: C15orf55). In the majority (∼75%) of NMCs, most of the coding sequence of NUT on chromosome 15q14 is fused with BRD4 creating chimeric genes that encode BRD-NUT fusion proteins. In the remaining cases, NUT is fused to BRD3 or an unknown partner gene; these tumors are termed NUT-variant. Read More

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http://dx.doi.org/10.1016/j.cancergencyto.2010.06.007DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3000636PMC
November 2010
12 Reads

Somatic mutations of signaling genes in non-small-cell lung cancer.

Cancer Genet Cytogenet 2010 Nov;203(1):7-15

Quest Diagnostics Nichols Institute, 33608 Ortega Highway, San Juan Capistrano, CA 92675, USA.

Lung cancer is the leading cause of cancer-related deaths, with non-small-cell lung cancer (NSCLC) accounting for approximately 85% of cases. A significant proportion of NSCLC cases are not diagnosed until a late stage, when aggressive treatments are required but often prolong survival only modestly. Recent advances in molecular characterization of NSCLC have enabled identification of numerous cell growth and proliferation pathways that are disrupted in these tumors. Read More

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http://dx.doi.org/10.1016/j.cancergencyto.2010.07.134DOI Listing
November 2010
5 Reads

The epigenetics of (hereditary) colorectal cancer.

Cancer Genet Cytogenet 2010 Nov;203(1):1-6

Department of Human Genetics, Radboud University Nijmegen Medical Centre, Nijmegen Centre for Molecular Life Sciences, Radboud University Nijmegen Centre for Oncology, PO Box 9101, 6500 HB Nijmegen, The Netherlands.

In the last decade, it has become apparent that not only DNA sequence variations but also epigenetic modifications may contribute to disease, including cancer. These epigenetic modifications involve histone modification including acetylation and methylation, DNA methylation, and chromatin remodeling. One of the best-characterized epigenetic changes is aberrant methylation of cytosines that occur in so-called CpG islands. Read More

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http://dx.doi.org/10.1016/j.cancergencyto.2010.08.013DOI Listing
November 2010
24 Reads

Absence of CHEK2*1100delC mutation in families with hereditary breast cancer in North America.

Cancer Genet Cytogenet 2010 Oct;202(2):136-40

Department of Internal Medicine, University of Michigan Comprehensive Cancer Center, University of Michigan, Ann Arbor, MI 48109, USA.

The CHEK2*1100delC mutation has been reported to confer a twofold increased risk of breast cancer among carriers. The frequency of the mutation varies among populations. The highest frequency has been described in Northern and Eastern European countries; the frequency may be much lower in North America. Read More

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http://dx.doi.org/10.1016/j.cancergencyto.2010.07.124DOI Listing
October 2010
13 Reads

Microdeletion of 22q11.1 is associated with two cases of familial nonsyndromic basal cell carcinoma.

Authors:
Ali Naderi

Cancer Genet Cytogenet 2010 Oct;202(2):133-5

Bedford Hospital NHS Trust, Bedford, United Kingdom.

Multiple basal cell carcinomas (BCCs) are a hallmark of Gorlin syndrome (nevoid basal cell carcinoma syndrome), which is caused by mutation in the PTCH1 gene on 9q22.3. However, there are several reports of familial cases with multiple BCCs without the associated defects of Gorlin syndrome. Read More

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http://dx.doi.org/10.1016/j.cancergencyto.2010.07.123DOI Listing
October 2010
2 Reads

Acute leukemia with PICALM-MLLT10 fusion gene: diagnostic and treatment struggle.

Cancer Genet Cytogenet 2010 Oct;202(2):129-32

Department of Pathology, Medical College of Georgia, Augusta, GA 30912, USA.

Patients with various hematologic malignancies, including acute lymphoblastic leukemia (ALL), acute myeloblastic leukemia (AML), diffuse histiocytic lymphoma, and granulocytic sarcoma, have sometimes been shown to carry the PICALM-MLLT10 fusion gene (alias CALM-AF10) by various cytogenetic methodologies. Cases with the PICALM-MLLT10 fusion gene can involve a diagnostic dilemma for the following reasons: (1) the fusion gene occurs very rarely, (2) the cases do not have a distinct myeloid or lymphoid morphology and cells often appear immature, (3) cases usually have a mixed T-cell and myeloid phenotype, and (4) cases often have a mixed clinical presentation (e.g. Read More

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http://dx.doi.org/10.1016/j.cancergencyto.2010.07.126DOI Listing
October 2010
40 Reads