Acute Myeloid Leukemia with Concurrent Inversion 16 and Trisomy 9: A Case Report.

IF 0.9 Q3 MEDICINE, GENERAL & INTERNAL Journal of Laboratory Physicians Pub Date : 2023-03-01 DOI:10.1055/s-0042-1750070
Ambreen Aman, Kavitha B Lingappa, Deepika G Sujatha, Subhan Ali Rajasab, Siddapa Shantala
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Abstract

Abstract Acute myeloid leukemia (AML) are a diverse group of hematological malignancies, each with a distinct clinical, morphological, immunophenotypic, and molecular profile. The World Health Organization (WHO) classifies AML into various subtypes based on recurrent genetic abnormalities, each of which has clinico-pathological and prognostic significance. Inversion(16)(p13q22) or t(16;16)(p13q22) is a balanced structural chromosomal abnormality associated with complete remission and a favorable response to treatment. Trisomy 9 is a numerical chromosomal abnormality with an intermediate risk and is often seen in association with other cytogenetic abnormalities. We describe a case of a 36-year-old female patient who was diagnosed as AML-M4 on peripheral smear and bone marrow evaluation. Cytogenetic studies revealed concurrent presence of inv(16) and trisomy 9. To the best of our knowledge, this is the first case in published literature with simultaneous presence of inv(16)(p13q22) and trisomy 9 in de novo AML.

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急性髓系白血病并发16型反转和9型三体1例报告。
急性髓性白血病(AML)是一种不同的血液系统恶性肿瘤,每一种都有不同的临床、形态、免疫表型和分子特征。世界卫生组织(WHO)根据复发性遗传异常将AML分为各种亚型,每种亚型都具有临床病理和预后意义。倒位(16)(p13q22)或t(16;16)(p13q22)是一种平衡的结构性染色体异常,与完全缓解和对治疗的良好反应相关。9三体是一种具有中等风险的数字染色体异常,通常与其他细胞遗传学异常相关。我们报告一例36岁女性患者,外周涂片和骨髓评估诊断为AML-M4。细胞遗传学研究显示inv(16)和9三体同时存在。据我们所知,这是首次在新发AML中同时存在inv(16)(p13q22)和9三体。
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来源期刊
Journal of Laboratory Physicians
Journal of Laboratory Physicians MEDICINE, GENERAL & INTERNAL-
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审稿时长
31 weeks
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