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|Title:||An acquired stable variant of a dicentric dic(9;20) and complex karyotype in a Syrian childhood B-acute lymphoblastic leukemia case||Authors:||Wafa, Abdulsamad
Jarjour, Rami A.
Melo, Joana B.
Carreira, Isabel M.
Othman, Moneeb A. K.
|Keywords:||Acute lymphoblastic leukemia; Complex karyotype; Dicentric dic(9;20); Array-based multicolor banding (aMCB); Array comparative genomic hybridization (aCGH; Prognostic factors||Issue Date:||2020||Publisher:||Springer Nature||Serial title, monograph or event:||Molecular Cytogenetics||Volume:||13||Issue:||1||Abstract:||Background: About 25 years ago, the acquired chromosome abnormality dicentric dic(9;20)(p11 ~ 13;q11) was seen described as a non-random aberration in B-cell precursor acute lymphoblastic leukemia (BCP-ALL). Yet, about 200 cases were reported. However, dicentric dic(9;20) is a subtle abnormality which easily may be mixed up with monosomy 20 and/or del(9p). The dicentric dic(9;20) can be found as a sole chromosomal abnormality or can be masked within complex rearrangements; also, a dicentric dic(9;20) is often associated with mono- or biallelic loss of CDKN2A gene. Case presentation: Here we report a case of 16-year-old male diagnosed with a de novo pre-B-ALL. Molecular approaches (array-based multicolor banding (aMCB) and array comparative genomic hybridization (aCGH)) were applied, and a unique complex karyotype involving six chromosomes was identified. It included three previously unreported chromosomal aberrations: dicentric dic(9;20;X), deletion del(7)(p22.2p15.2) and dicentric dic(7;13). The dicentric dic(9;20;X) also led to monoallelic loss of tumor suppressor gene CDKN2A. After successful chemotherapeutic treatment the patient experienced a relapse with a secondary ALL without complex karyotype but a deletion del(19)(p13). Unfortunately, the patient died after 17 months of the initial diagnosis. Conclusions: To the best of our knowledge, a comparable childhood ALL associated with such complex karyotype and deletion del(19)(p13) in secondary ALL was not previously reported. Thus, the complex karyotype with dicentrc dic(9;20;X) seems to indicate for a poor prognosis.||URI:||http://hdl.handle.net/10316/106456||ISSN:||1755-8166||DOI:||10.1186/s13039-020-00499-x||Rights:||openAccess|
|Appears in Collections:||FMUC Medicina - Artigos em Revistas Internacionais|
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