22
7
Cancer genetics and cytogenetics Journal
Papers
Cytogenetic analyses by means of trypsin—Giemsa banding technique were performed on bone marrow cells from a total of 12 patients—nine with acute nonlymphocytic leukemia and three with myelodysplastic syndrome—and a history of rheumatoid arthritis. Clonal chromosomal abnormalitie...
9
4
A boy with Down syndrome who developed acute nonlymphocytic leukemia (ANLL/M2) at the age of 40 months is presented. Chromosomal analysis of cultured peripheral blood cells without mitogen revealed a constitutional abnormality, trisomy 21, associated with the acquired chromosome ...
4
4
Chromosomal microarray analysis (CMA) is widely used in the constitutional setting, making samples for validation studies readily available. Validation of solid tumor CMA using formalin fixed, paraffin-embedded (FFPE) tissue derived DNA presents unique challenges. Validation samp...
1
9
Molecular cytogenetic analysis frequently shows human papillomavirus (HPV) integration near translocation breakpoints in cervical cancer cells. We have recently described a cluster of HPV18 integrations in the distal end of the common fragile site FRA8C at 8q24 in primary cervica...
45
20
Endometrial carcinoma is one of the most common gynecological malignancies. Most cases are diagnosed in older patients with diabetes, hypertension, or obesity. The renin-angiotensin system (RAS) has a central role controlling blood pressure and sodium homeostasis. RAS polymorphis...
51
6
Nine cases of malignant human salivary gland tumors cultured in vitro were subjected to detailed cytogenetic analysis with G-banding. Together with observations from three earlier published cases, the results of 12 cases were surveyed: five adenoid cystic carcinomas, three acinic...
95
5
Lipofibromatosis is a relatively rare pediatric neoplasm, which usually manifests as an ill-defined soft tissue mass involving the upper and lower distal extremities, the trunk, and, less frequently, the head. To date, no cytogenetic abnormalities have been reported in this uncom...
31
10
A case of T -cell acute lymphoblastic leukemia (TALL) in a 25-year-old man cytogenetically characterized by a t(1;14)(p34;q11) and trisomy 8 is reported. These chromosome abnormalities were observed in 82% of the analyzed metaphases. Fluorescence in situ hybridization (FISH) with...
1
0
Hepatoblastoma (HB) is the most frequent malignant liver tumor in children. Cytogenetic data indicate the presence of recurring trisomies of the chromosomes 2, 8, and 20, but more work is needed to clarify their incidence and prognostic significance. Cytogenetic analysis is limit...
12
18
Malignant ovarian germ cell tumors (mOGCT) affect women in their reproductive years, making fertility-saving treatment important. A reliable prediction of the clinical behavior is essential for an optimal therapeutic approach. The genetic changes and molecular mechanisms underlyi...
15
22
Cytogenetic studies were performed in 120 patients with de novo myelodysplastic syndrome (MDS) classified according to FAB criteria. Twenty-eight patients had refractory anemia (RA), 14 had refractory anemia with ring sideroblasts (RARS), 45 had refractory anemia with blast exces...
128
10
Next generation sequencing is a powerful technology that provides a wealth of information, however, for clinical laboratories development, validation and implementation of NGS assays is challenging due to costs, data analysis pipelines, and turnaround time. Smaller academic clini...
0
6
We report further on four cases of trisomy 4 in acute leukemia. Two cases were FAB type M4, one was type M1, and one was an undifferentiated leukemia. Two of our patients were children, aged 13 months and 11 years, respectively. In one case there was evidence of trisomy 4 occurri...
14
11
Cytogenetic analysis of six non-small cell lung carcinomas (NSCLC) was carried out on overnight cultures of tumor material obtained from transthoracic fine needle aspirates to determine karyotype changes involved in the early stages of the disease. Multiple chromosome alterations...
3
2
Myelodysplastic syndromes and acute myeloid leukemias are clonal malignant neoplasms arising from myeloid progenitors that are characterized by dysplasia, ineffective hematopoiesis, and variable numbers of blasts. Cytogenetic analysis plays a fundamental role in defining the gene...
0
15
Detection of minimal residual disease is one of the major goals in bone marrow transplantation. We used a fluorescence in-situ hybridization technique to detect residual Philadelphia-chromosome positive cells in chronic myelogenous leukemia (CML) patients after sex-mismatch BMT. ...
24
5
Women with clinically node-negative breast cancer have a better prognosis than do those with axillary lymph node metastasis. Nonetheless, ∼20% of node-negative patients die within 15 years of diagnosis, and thus additional prognostic markers are greatly needed. To identify specif...
11
14