Persistent clonal cytogenetic abnormality with del(20q) from an initial diagnosis of acute promyelocytic leukemia.
Persistent clonal cytogenetic abnormality with del(20q) from an initial diagnosis of acute promyelocytic leukemia.
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急性早幼粒细胞白血病初步诊断显示持续性克隆细胞遗传学异常，伴有 del(20q)。
DOI：
10.1007/s12185-019-02731-w
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发表时间：
2020
影响因子：
2.1
通讯作者：
Miyazaki Y.
中科院分区：
文献类型：
--
作者：
Fujioka M;Itonaga H;Kato T;Nannya Y;Hashimoto M;Kasai S;Toriyama E;Kamijo R;Taguchi M;Taniguchi H;Sato S;Atogami S;Imaizumi Y;Hata T;Moriuchi Y;Ogawa S;Miyazaki Y.
一名68岁男性被诊断为急性早幼粒细胞白血病（APL）。染色体G带分析显示两个克隆共存：一个带有del（20 q）和t（15;17）（q22;q12），另一个只带有del（20 q）。在全反式维甲酸治疗后APL缓解期间，del（20 q）被持续鉴定，表明诊断为具有孤立del（20 q）的意义不明的细胞遗传学异常（CCAUS）。在APL缓解后48个月发生二细胞减少症。在G显带分析中检测到孤立的del（20 q）的存在，而造血细胞的形态发育不良未得到证实。该病例在APL缓解后从CCAUS缓慢进展为意义不明的克隆性血细胞减少症（CCUS）。CCUS伴孤立del（20 q）持续24个月，未发现任何血液学恶性肿瘤。在最近的随访中，靶向捕获测序显示U2 AF 1 S34 F突变。白血病治疗后CCAUS伴del（20 q）的随访应引起重视。
A 68-year-old male was diagnosed with acute promyelocytic leukemia (APL). A G-banding chromosomal analysis revealed the co-existence of two clones: one with del(20q) and t(15;17)(q22;q12) and another with del(20q) alone. During the remission of APL following treatment with all-trans-retinoic acid, del(20q) was persistently identified, indicating a diagnosis of cytogenetic abnormalities of undetermined significance (CCAUS) with isolated del(20q). Bicytopenia developed 48 months after the remission of APL. The presence of isolated del(20q) was detected in the G-banding analysis, whereas morphological dysplasia of hematopoietic cells was not confirmed. This case showed indolent progression from CCAUS after the remission of APL to clonal cytopenia of undetermined significance (CCUS). CCUS with isolated del(20q) persisted for 24 months without any finding of hematological malignancies. At the most recent follow-up, targeted capture sequencing showed theU2AF1S34F mutation. Considerable attention needs to be paid in follow-ups for CCAUS with del(20q) after the treatment of leukemia.