具有 DUSP22 和 TP63 双重打击重排的 ALK 阴性间变性大细胞淋巴瘤的小细胞模式。
Small cell pattern of ALK-negative anaplastic large cell lymphoma with double-hit rearrangements of DUSP22 and TP63.
发表日期：2024 Aug
作者：
Yui Niiyama-Uchibori, Shinsuke Mizutani, Taku Tsukamoto, Haruya Okamoto, Daisuke Ide, Akio Onishi, Daishi Kato, Takahiro Fujino, Yuji Shimira, Aya Miyagawa-Hayashino, Eiichi Konishi, Kennosuke Karube, Yasuhito Nannya, Junya Kuroda
来源：
Stem Cell Research & Therapy
摘要：
在 ALK 阴性间变性大细胞淋巴瘤 (ALCL) 中，DUSP22 和 TP63 的基因重排被认为是相互排斥的。前者预示着良好的预后，而后者通常是不利的。我们报告了第一例具有小细胞模式转化的白血病期 ALK 阴性 ALCL，其中包含通过 inv(6)(p25q21) 实现的 DUSP22 基因和通过 TBL1XR1-TP63 倒置实现的 TP63 基因的双重重排。尽管对化疗产生耐药性，但该患者在 20 个月的时间里通过同种异体干细胞移植仍保持病情缓解。认识到这种病理学和遗传上罕见的病症对于 ALK 阴性 ALCL 的及时诊断和治疗决策至关重要。© 2024 作者。 eJHaem 由英国血液学会和 John Wiley 出版
In ALK-negative anaplastic large cell lymphoma (ALCL), gene rearrangements of DUSP22 and TP63 are considered mutually exclusive. The former predicts a favorable prognosis, while the latter is generally unfavorable. We report the first case of ALK-negative ALCL in a leukemic phase with small cell pattern transformation, harboring double-hit rearrangements of the DUSP22 gene by inv(6)(p25q21) and TP63 gene by TBL1XR1-TP63 inversion. Despite the resistance to chemotherapies, the patient remained in remission with allogeneic stem cell transplantation over 20 months. Recognizing this pathologically and genetically rare condition is needed for prompt diagnosis and therapeutic decision-making in ALK-negative ALCL.© 2024 The Author(s). eJHaem published by British Society for Haematology and John Wiley & Sons Ltd.