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