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ALK阴性间变性大细胞淋巴瘤的小细胞模式，伴有 和 的双重打击重排。

Small cell pattern of ALK-negative anaplastic large cell lymphoma with double-hit rearrangements of and .

作者信息

Niiyama-Uchibori Yui, Mizutani Shinsuke, Tsukamoto Taku, Okamoto Haruya, Ide Daisuke, Onishi Akio, Kato Daishi, Fujino Takahiro, Shimira Yuji, Miyagawa-Hayashino Aya, Konishi Eiichi, Karube Kennosuke, Nannya Yasuhito, Kuroda Junya

机构信息

Division of Hematology and Oncology Department of Medicine Kyoto Prefectural University of Medicine Kyoto Japan.

Department of Hematology Japanese Red Cross Kyoto Daiichi Hospital Kyoto Japan.

出版信息

EJHaem. 2024 Jun 17;5(4):798-801. doi: 10.1002/jha2.960. eCollection 2024 Aug.

DOI:10.1002/jha2.960
PMID:39157603
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC11327721/
Abstract

In ALK-negative anaplastic large cell lymphoma (ALCL), gene rearrangements of and 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 gene by inv(6)(p25q21) and 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.

摘要

在ALK阴性间变性大细胞淋巴瘤（ALCL）中， 和 的基因重排被认为是相互排斥的。前者预示着良好的预后，而后者通常预后不佳。我们报告了首例处于白血病期且伴有小细胞模式转化的ALK阴性ALCL病例，该病例存在因inv(6)(p25q21)导致的 基因和因TBL1XR1 - TP63倒位导致的 基因的双打击重排。尽管对化疗耐药，但该患者通过异基因干细胞移植在20多个月的时间里一直处于缓解状态。对于ALK阴性ALCL的快速诊断和治疗决策而言，认识到这种病理和基因罕见的情况是必要的。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/56c8/11327721/2aee5fee8df8/JHA2-5-798-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/56c8/11327721/6ce1f97ef05e/JHA2-5-798-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/56c8/11327721/2aee5fee8df8/JHA2-5-798-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/56c8/11327721/6ce1f97ef05e/JHA2-5-798-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/56c8/11327721/2aee5fee8df8/JHA2-5-798-g001.jpg

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本文引用的文献

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ALK-negative anaplastic large cell lymphoma with rearrangement has distinctive disease characteristics with better progression-free survival: a LYSA study.ALK 阴性间变大细胞淋巴瘤伴基因重排具有独特的疾病特征，无进展生存更好：LYSA 研究。
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2
rearrangement is associated with a distinctive immunophenotype but not outcome in patients with systemic ALK-negative anaplastic large cell lymphoma.在系统性 ALK 阴性间变大细胞淋巴瘤患者中，重排与独特的免疫表型相关，但与预后无关。
Haematologica. 2023 Jun 1;108(6):1604-1615. doi: 10.3324/haematol.2022.281222.
3
Small-cell pattern of DUSP22 rearranged ALK-negative anaplastic large-cell lymphoma with leukemic phase.
伴有白血病期的DUSP22重排ALK阴性间变性大细胞淋巴瘤的小细胞模式
Blood. 2022 Jan 20;139(3):465. doi: 10.1182/blood.2021013693.
4
The Leukemic Phase of ALK-Negative Anaplastic Large Cell Lymphoma Is Associated with CD7 Positivity, Complex Karyotype, Deletion, and a Poor Prognosis.ALK阴性间变性大细胞淋巴瘤的白血病期与CD7阳性、复杂核型、缺失及预后不良相关。
Cancers (Basel). 2021 Dec 16;13(24):6316. doi: 10.3390/cancers13246316.
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Co-occurring rearrangements of and define a rare genetic subset of ALK-negative anaplastic large cell lymphoma with inferior survival outcomes.和的共现重排定义了ALK阴性间变性大细胞淋巴瘤的一个罕见遗传亚组，其生存结果较差。
Leuk Lymphoma. 2022 Feb;63(2):506-508. doi: 10.1080/10428194.2021.1984457. Epub 2021 Oct 6.
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