Duplication of subtelomeric regions in an adult with acute monocytic leukemia with an acquired jumping translocation involving 3q13.31-qter
نویسنده
چکیده
A jumping translocation (JT) involves a single donor chromosome and two or more recipient chromosomes in which a similar chromosomal region is translocated to various recipient chromosomes in different cell lines of a single individual. JTs are often associated with telomeric regions. Only 21 acquired JTs have previously been described in myeloid malignancies. Three of these cases involved the 3q13.31-qter region of which all were associated with a dismal outcome. In our recent publication, "Characterization of an acquired jumping translocation involving 3q13.31-qter in a patient with de novo acute monocytic leukemia" [1], we characterized the breakpoint region 3q13.31 by oligo-based array comparative genomic hybridization analysis. The present article provides data on copy number aberrations observed in the subtelomeric regions of this patient. Copy number alterations in the subtelomeric region have not been addressed previously in patients with JT.
منابع مشابه
Cryptic subtelomeric translocations in the 22q13 deletion syndrome.
Cryptic subtelomeric rearrangements are suspected to underlie a substantial portion of terminal chromosomal deletions. We have previously described two children, one with an unbalanced subtelomeric rearrangement resulting in deletion of 22q13-->qter and duplication of 1qter, and a second with an apparently simple 22q13-->qter deletion. We have examined two additional patients with deletions of ...
متن کاملSubacute dermal monocytic sarcoma: report of a case of monocytic leukemia with initial dermal presentation
Monocytic sarcoma is a neoplasm of immature monocytes involving any extramedullary site such as skin. The definite diagnosis is important for adequate therapy, which is often delayed becauseof misdiagnosis. We report a 51-Year-old diabetic woman who presented with several erythematous itchy papules and plaques on her s...
متن کاملMultiplex ligation-dependent probe amplification to detect subtelomeric rearrangements in routine diagnostics.
Subtelomeric rearrangements are believed to be responsible for 5-7% of idiopathic mental retardation cases. Due to the relative complexity and high cost of the screening methods used till now, only preselected patient populations including mostly the more severely affected cases have been screened. Recently, multiplex ligation-dependent probe amplification (MLPA) has been adapted for use in sub...
متن کاملA Rare Case of Acute Myeloid Leukemia with Translocation (3:3) Presenting with Features of Chronic Myelomonocytic Leukemia
Background: Acute Myeloid Leukemia (AML) with translocation (3,3) is a form of AML that may present de novo or may arise from a previous myelodysplastic syndrome. It is often associated with normal or elevated peripheral blood platelet count and increased bone marrow megakaryocytes with associated multi lineage dysplasia. A subset of patients present with hepatosplenomegaly while a few cases h...
متن کاملFLT3 and MLL intragenic abnormalities in AML reflect a common category of genotoxic stress.
MLL rearrangements in acute myeloid leukemia (AML) include translocations and intragenic abnormalities such as internal duplication and breakage induced by topoisomerase II inhibitors. In adult AML, FLT3 internal tandem duplications (ITDs) are more common in cases with MLL intragenic abnormalities (33%) than those with MLL translocation (8%). Mutation/deletion involving FLT3 D835 are found in m...
متن کامل