Clinical correlation and prognostic impact of cytogenetic clone size for myelodysplastic syndromes/neoplasm

Blood Neoplasia Pub Date : 2024-12-13 DOI:10.1016/j.bneo.2024.100062

Zhuoer Xie , Najla Al Ali , Ling Zhang , Peter Papenhausen , Virginia Olivia Volpe , Onyee Chan , Andrew Kuykendall , Seongseok Yun , Alison Walker , Kendra Sweet , Jeffrey E. Lancet , Eric Padron , David A. Sallman ∗ , Rami S. Komrokji ∗

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Abstract

Most myelodysplastic syndromes/neoplasms (MDS) risk stratification models dichotomize conventional cytogenetic abnormalities into present or absent, neglecting the prognostic impact of clone size (percentage of the total cells/metaphases harboring the chromosome abnormality). We investigated the prognostic value of clone size in 1001 patients with MDS using G-banding and fluorescence in situ hybridization. Clone size correlated with anemia severity and thrombocytosis in del(5q) cases, and with anemia and blast percentage in complex karyotypes. TP53 mutation prevalence was significantly elevated in patients with clone size of ≥25% compared with those with <25% (34.2% vs 3%; P = .07). Complex karyotypes with clone size of ≥75% demonstrated superior response to hypomethylating agents (20.8% vs 10%; P = .03). Crucially, clone size of ≥25% independently predicted overall survival and leukemia-free survival, regardless of revised International Prognostic Scoring System (IPSS) or molecular IPSS. Our findings establish clone size as a robust prognostic factor in MDS, warranting its integration into clinical practice and potential incorporation into risk stratification models.

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骨髓增生异常综合征/肿瘤细胞遗传学克隆大小的临床相关性和预后影响

摘要大多数骨髓增生异常综合征/肿瘤（MDS）风险分层模型将常规的细胞遗传学异常分为存在或不存在，而忽略了克隆大小（包含染色体异常的总细胞/中期的百分比）对预后的影响。我们利用g带和荧光原位杂交技术研究了克隆大小对1001例MDS患者的预后价值。克隆大小与del（5q）病例的贫血严重程度和血小板增多有关，在复杂核型中与贫血和胚率有关。TP53突变发生率在克隆大小≥25%的患者中显著高于克隆大小≥25%的患者(34.2% vs 3%；P = .07)。克隆大小≥75%的复杂核型对低甲基化药物有更好的反应(20.8% vs 10%；P = .03)。至关重要的是，无论采用修订后的国际预后评分系统（IPSS）或分子IPSS，克隆大小≥25%独立预测总生存期和无白血病生存期。我们的研究结果表明，克隆大小是MDS的一个可靠的预后因素，有必要将其纳入临床实践，并有可能纳入风险分层模型。

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Blood Neoplasia

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