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Dicentric chromosomes can occur in myelodysplastic syndromes and acute myeloid leukemia. As these unbalanced rearrangements often combine two recurrent deletions, they could be an efficient mechanism for the loss of two tumor suppressor genes in a single step. We report here that dicentric chromosomes involving chromosome 20 with loss of the 20q12 putative tumor suppressor gene are often the result of more complex rearrangements, with the 20q12 region being lost by an interstitial deletion independent of the site of translocation. We found interstitial deletions of 20q in two thirds of the two-way translocations tested. This points to a more complex mechanism of translocation involving at least three breakpoints and two separate events, and raises questions about the order of these events and the significance of these abnormalities.
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http://dx.doi.org/10.1016/j.cancergen.2010.12.001 | DOI Listing |
Clin Exp Med
June 2025
Department of Hematology, Shanghai Sixth People's Hospital Affiliated to Shanghai Jiao Tong University School of Medicine, Shanghai, 200233, China.
The 20q deletion (del(20q)) is a recurrent chromosomal abnormality in individuals with myelodysplastic syndrome (MDS) and is associated with favourable outcomes when isolated. This study aims to analyse the clinical features and prognostic impact of del(20q) based on cytogenetic and molecular alterations. Among 1,527 patients with MDS, 101 (6.
View Article and Find Full Text PDFSci Rep
April 2025
Department of Pathology, Sir Run Run Shaw Hospital, Zhejiang University School of Medicine, Hangzhou, 310016, Zhejiang, China.
Colorectal cancer (CRC) is a leading cause of cancer-related deaths globally. Adenomas, precursors to CRC, can be diagnosed early, but the genetic events leading to adenoma-adenocarcinoma conversion remain unclear. This study explored the role of chromosomal instabilities (CINs) in this conversion.
View Article and Find Full Text PDFMod Pathol
August 2025
Department of Pathology and Laboratory Medicine, Memorial Sloan Kettering Cancer Center, New York, New York. Electronic address:
Undifferentiated pleomorphic sarcoma (UPS) occurs primarily in older adults and remains a diagnosis of exclusion due to its lack of differentiation and specific molecular alterations. Its occurrence in children is rare and controversial, with an unclear relationship to its adult counterpart. In this study, we aimed to investigate a cohort of 6 pediatric undifferentiated pleomorphic sarcoma (P-UPS, mean 10 years old) and 19 young-adult undifferentiated pleomorphic sarcoma (YA-UPS, mean 30 years old) cases by conducting a comprehensive comparative analysis of their clinicopathologic, genomic, and epigenetic features relative to their adult undifferentiated pleomorphic sarcoma counterparts (A-UPS, n = 100).
View Article and Find Full Text PDFCancer Med
March 2025
Hematologic Pathology Center, Institute of Hematology and Blood Diseases Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, Tianjin, China.
Background: Isolated 20q deletion [del(20q)] is a recurrent favorable abnormality in myelodysplastic syndrome (MDS) and may cause deletion of the ASXL1 gene. Meanwhile, ASXL1 mutations are also common in individuals with MDS. This study aimed to describe the biological and clinical implications of ASXL1 mutations and deletion in newly diagnosed MDS patients with isolated del(20q).
View Article and Find Full Text PDFJ Assoc Genet Technol
January 2024
The International Circle of Genetics Studies, Stony Brook Chapter, NY.
We report a 76-year-old male patient with myelodysplastic syndrome (MDS) with a t(9;22) and deletion 20q only by FISH. Past medical history is significant for prostate cancer status post radiation therapy and a 28-pack-year smoking history. In 2016, the patient developed a DVT and incidentally was found to have a BCR::ABL1 (p210) by PCR analysis (level of 0.
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