作为8号染色体四体的急性单核细胞白血病病例中的一种继发性染色体异常：易位(15;17)(q22;q21)

Translocation (15;17)(q22;q21) as a secondary chromosomal abnormality in a case of acute monoblastic leukemia with tetrasomy 8.

作者信息

Zhang X X, Robinson L J, Stenzel T T, Qumsiyeh M B

机构信息

Department of Pathology, Duke University Medical Center, Durham, NC 27710, USA.

出版信息

Cancer Genet Cytogenet. 1999 Aug;113(1):9-13. doi: 10.1016/s0165-4608(98)00278-7.

DOI:10.1016/s0165-4608(98)00278-7

PMID:10459339

Abstract

We describe a case of acute monoblastic leukemia (AML M5a), originally presenting as granulocytic sarcoma of the testis, showing unusual cytogenetic abnormalities. Tetrasomy 8 (primary) and t(15;17)(q22;q21) (secondary) were detected in bone marrow cells 6 months post-diagnosis, both by routine karyotype analysis and by fluorescence in situ hybridization (FISH) studies on metaphases and interphase nuclei. Retrospectively, the same abnormalities were identified in the primary testicular lesion using interphase FISH. However, reverse transcriptase polymerase chain reaction (RT-PCR) did not reveal the presence of a classic PML/RAR alpha fusion transcript. To the best of our knowledge, this is the first case to be reported in the literature of AML showing tetrasomy 8 in combination with secondary t(15;17).

摘要

我们描述了一例急性单核细胞白血病（AML M5a）病例，最初表现为睾丸粒细胞肉瘤，伴有不寻常的细胞遗传学异常。诊断后6个月，通过常规核型分析以及对中期和间期细胞核进行荧光原位杂交（FISH）研究，在骨髓细胞中检测到8号染色体四体（原发性）和t(15;17)(q22;q21)（继发性）。回顾性分析发现，使用间期FISH在原发性睾丸病变中也存在相同的异常。然而，逆转录聚合酶链反应（RT-PCR）未显示经典的PML/RARα融合转录本的存在。据我们所知，这是文献中报道的首例急性髓系白血病同时出现8号染色体四体与继发性t(15;17)的病例。