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继发于组织细胞肉瘤和滤泡性淋巴瘤:细胞遗传学和下一代测序分析为早期共同淋巴前体细胞的转分化提供证据——病例报告及文献复习。

Subsequent development of histiocytic sarcoma and follicular lymphoma: cytogenetics and next-generation sequencing analyses provide evidence for transdifferentiation of early common lymphoid precursor-a case report and review of literature.

机构信息

Departement de Pathologie, Institut Universitaire du Cancer Oncopole, CHU Toulouse, 1 avenue Irène Joliot-Curie, 31059, Toulouse cedex 09, France.

Université Paul Sabatier, 118 route de Narbonne 31062, Toulouse cedex 09, France.

出版信息

Virchows Arch. 2020 Apr;476(4):609-614. doi: 10.1007/s00428-019-02691-w. Epub 2019 Dec 5.

DOI:10.1007/s00428-019-02691-w
PMID:31807922
Abstract

Histiocytic sarcoma (HS) is a rare aggressive hematologic neoplasm that can be associated with low-grade B cell lymphoma. The development of both neoplasms is currently being considered a transdifferentiation mechanism but remains elusive. We report the case of a 65-year-old patient with synchronous development of peritoneal/abdominal HS and grade 1-2 follicular lymphoma (FL). Cytogenetic analysis and targeted next-generation sequencing of both FL and HS tumors identified common genomic alterations such as IGH-BCL2 rearrangement, CREBBP and KMT2D, and aberrations of chromosomes 9q and 19q. However, only the HS tumor had a KRAS mutation while the lymph node involved by FL harbored a TNFAIP3 mutation and both tumors also showed distinct chromosomal alterations. This report strengthens the hypothesis of a common lymphoid progenitor which accumulates genetic alterations leading to two different hematologic malignant diseases with significantly distinct prognoses.

摘要

组织细胞肉瘤(HS)是一种罕见的侵袭性血液系统肿瘤,可与低级别 B 细胞淋巴瘤相关。两种肿瘤的发展目前被认为是一种转分化机制,但仍不清楚。我们报告了一例 65 岁患者同时发生腹膜/腹腔 HS 和 1-2 级滤泡淋巴瘤(FL)的病例。对 FL 和 HS 肿瘤的细胞遗传学分析和靶向下一代测序发现了常见的基因组改变,如 IGH-BCL2 重排、CREBBP 和 KMT2D,以及染色体 9q 和 19q 的异常。然而,只有 HS 肿瘤有 KRAS 突变,而 FL 受累的淋巴结有 TNFAIP3 突变,并且两种肿瘤也显示出明显不同的染色体改变。本报告支持了一个共同的淋巴祖细胞假说,该假说累积了遗传改变,导致两种具有显著不同预后的不同血液恶性疾病。

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