伴有淋巴恶性肿瘤的组织细胞肉瘤的突变特征。
The mutational landscape of histiocytic sarcoma associated with lymphoid malignancy.
机构信息
Laboratory of Pathology, National Cancer Institute, National Institutes of Health, Bethesda, MD, USA.
NIAID Collaborative Bioinformatics Resource (NCBR), National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD, USA.
出版信息
Mod Pathol. 2021 Feb;34(2):336-347. doi: 10.1038/s41379-020-00673-x. Epub 2020 Sep 14.
Histiocytic sarcoma and tumors with dendritic cell differentiation (HDT) are uncommon neoplasms often with an aggressive clinical course that may occur in association with another hematologic malignancy or mediastinal germ cell tumor (secondary HDT, sHDT). Previous studies have shown mutations in the RAS/MAPK pathway in HDT and have demonstrated a clonal relationship between HDT and associated lymphoid malignancies through common translocations or identical immunoglobulin or T-cell receptor gene rearrangements. We performed whole exome sequencing on 16 cases of sHDT to further evaluate the spectrum of mutations that occur in sHDT in the context of an associated lymphoid malignancy, including cases associated with follicular lymphoma (FL), chronic lymphocytic leukemia/small lymphocytic lymphoma, B- and T-cell acute lymphoblastic leukemia/lymphoma and peripheral T-cell lymphoma, NOS. In addition, we assessed the clonal relationship between the HDT and the associated lymphoid malignancy in three cases for which matched samples were available. We found mutations in RAS/MAPK pathway genes in 14/16 cases of sHDT associated with diverse mature and precursor B-cell and T-cell neoplasms, involving KRAS (8/16), BRAF (2/16), NRAS (2/16), MAP2K1 (1/16), and NF1 (1/16). In addition, we note that FL-associated sHDT frequently shares a similar mutational profile to the associated malignancy, identifying mutations in CREBBP or KMT2D in all cases and "aberrant" somatic hypermutation in 5/6 cases. Our study confirms the role of the RAS/MAPK pathway in the pathogenesis of sHDT, provides further evidence of a common neoplastic precursor and, in the case of FL, gives additional insight into the stage in lymphomagenesis at which transdifferentiation may occur.
组织细胞肉瘤和具有树突状细胞分化的肿瘤(HDT)是不常见的肿瘤,通常具有侵袭性的临床病程,可能与另一种血液恶性肿瘤或纵隔生殖细胞瘤(继发性 HDT,sHDT)相关。先前的研究表明 HDT 中存在 RAS/MAPK 通路的突变,并通过常见的易位或相同的免疫球蛋白或 T 细胞受体基因重排,证明了 HDT 与相关淋巴恶性肿瘤之间存在克隆关系。我们对 16 例 sHDT 进行了全外显子组测序,以进一步评估在相关淋巴恶性肿瘤背景下 sHDT 中发生的突变谱,包括与滤泡性淋巴瘤(FL)、慢性淋巴细胞白血病/小淋巴细胞淋巴瘤、B 和 T 急性淋巴细胞白血病/淋巴瘤和外周 T 细胞淋巴瘤,NOS 相关的病例。此外,我们评估了在三个具有匹配样本的病例中 HDT 与相关淋巴恶性肿瘤之间的克隆关系。我们发现 14/16 例与各种成熟和前体细胞 B 细胞和 T 细胞肿瘤相关的 sHDT 中存在 RAS/MAPK 通路基因的突变,涉及 KRAS(8/16)、BRAF(2/16)、NRAS(2/16)、MAP2K1(1/16)和 NF1(1/16)。此外,我们注意到,与 FL 相关的 sHDT 经常与相关恶性肿瘤具有相似的突变谱,在所有病例中发现 CREBBP 或 KMT2D 突变,并且在 5/6 例中存在“异常”体细胞超突变。我们的研究证实了 RAS/MAPK 通路在 sHDT 发病机制中的作用,提供了共同肿瘤前体的进一步证据,并且在 FL 的情况下,深入了解了可能发生转分化的淋巴发生阶段。
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