Nonrandom extra copies of 1q and 11q in the karyotypes of three new cases of acute myeloid leukemia associated with Down syndrome

Гиндина, Т. Л.; Baykov, Vadim; Kozhokar, P.V.; Ryabenko, Sabina; Gusak, Artem; Riumin, Sergey; Грачева, Т. Ю.; Barkhatov, Ildar; Babenko, Elena V.; Paina, Olesya V.; Семенова, Е. В.; Zubarovskaya, Ludmila; Mamaev, Nikolay

doi:10.18620/ctt-1866-8836-2023-12-1-32-40

Cited by 1 publication

(1 citation statement)

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“…Gain of chromosome 1q is considered an early and nonrandom prognostic feature in solid tumors [1], oncohematological disorders [2][3][4][5][6] and Fanconi anemia (FA) progression [7][8][9][10][11][12]. The 1q gain has been lately shown to associate with overexpression of MDM4 oncogene located at 1q32 which is responsible for the downregulation of the TP53 gene.…”

Section: Introductionmentioning

confidence: 99%

Сhromosome 1q and 3q gains in bone marrow of a patient with Fanconi anemia: their clinical and pathogenetic significance

Gindina,

Baykov,

Kuznetsov

et al. 2023

CTT

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Chromosome copy number changes, also known as aneuploidy, is a ubiquitous feature of cancer cell genome. DNA sequencing studies of the tumor cells have shown that the aneuploidy patterns are nonrandom, and specific chromosome gains occur quite frequently, thus, probably, playing an oncogene-like role in tumor development.It is well known that certain copy number changes, such as 1q gain, are of predictive value in many tumor types. It has been recently shown that the 1q gain is associated with increased expression of the MDM4 oncogene located at 1q32 which is responsible for the downregulation of TP53 gene in Fanconi anemia and clonal hematopoiesis development. Case presentationHere we present a rare case of Fanconi anemia in a 31-year-old Syrian male patient at the early stage of MDS/AML transformation. His bone marrow cells showed 1q and 3q gains combined with severely suppressed TP53 gene expression, along with low WT1 and BAALC gene expression. ConclusionSince acquisition of additional 1q/MDM4 copies is common to many solid tumors and oncohematological diseases is considered a reliable marker predictive of cancer progression, this molecular feature needs further indepth study.

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