D7S486 loss, del(7q31) Loss of a whole chromosome 7(-7) or a deletion of the long arm of chromosome 7, del(7q), occurs frequently in many types of primary cancers including cases of acute myelogenous leukemia (AML). Loss of the D7S486 locus is detected in ~5% of adults with de novo myelodysplastic syndrome (MDS) and in ~50% […]
Gain of chromosome 8, 8p11 The gain of chromosome 8 is found in 15-20% of myelodysplastic syndromes (MDS). The progression of MDS to AML occurs in about half of these cases, while mean survival is about 1.5 to 2 years. Leukemias +8 appear to be a heterogeneous group with different clinical and cytological presentations, and different expression
D20S108 deletion, del(20q12) A large number of hematologic malignancies such as myelodysplastic syndromes (MDS), acute lymphocytic leukemia (ALL), polycythemia vera, chronic neutrophilic leukemia, etc. show this anomaly. Deletion of 20q12 affects a small fragment (about 8 Mb) flanked by D20S206 and D20S119 regions, and appears as a primary karyotype abnormality occurs in a pluripotent hematopoietic
Y chromosome loss It is not known whether the loss of the Y chromosome is the critical mutational event is a secondary genetic change, or if the critical genetic change occurs just by chance in a –Y cell. It is thought that the loss of the Y chromosome could provide a proliferative advantage by shortening the cell
FIP1L1/PDGFRA fusion gene, del(4q12) The FIP1L1/PDGFRA fusion gene is the result of an interstitial deletion of about 800 kb in 4q12, including CHIC2 locus, del(4)(q12q12). This translocation is not detected with classical cytogenetic techniques and has been identified in 50 – 60% of patients with hypereosinophilic syndrome (HES). Deletion of CHIC2 in patients with idiopathic hypereosinophilic
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ETV6/PDGFRß fusion gene, t(5;12)(q33;p13) Since the identification of fusion gene PDGFRß-ETV6 in Chronic myeloid leukemia with prominent eosinophilia or chronic eosinophilic leukemia (CEL) patients with t(5;12)(q33;p13), 17 additional patterns for PDGFRß fusion gene have been identified. In spite of the molecular diversity, most of these patients are characterized by the presence of eosinophilia. Many cases in
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FGFR1 rearrangements (8p11) Myeloproliferative disorder in association with an aggressive lymphoproliferative disorder is a rather unusual phenomenon. Translocations affecting FGFR1 gene (8p11) are rare events that have been reported in acute myeloid leukemia and myeloproliferative neoplasms that suggest a bilinear differentiation from a pluripotent stem cell. The 8p11 myeloproliferative syndrome (EMS), also known as ‘stem
