Kawashima Ichiro, Oishi Naoki, Kasai Kazunari, Inoue Tomohiro, Hosokawa Eriko, Nakadate Ayato, Matsuura Minori, Kumagai Takuma, Koshiishi Megumi, Yamamoto Takeo, Nakajima Kei, Tanaka Masaru, Kondo Tetsuo, Kirito Keita
Department of Hematology and Oncology, University of Yamanashi, 1110 Shimokato, Chuo, Yamanashi, 409-3898, Japan.
Department of Pathology, University of Yamanashi, Chuo, Yamanashi, Japan.
Virchows Arch. 2022 May;480(5):1101-1105. doi: 10.1007/s00428-021-03148-9. Epub 2021 Jul 6.
We report an exceptionally rare case of mantle cell lymphoma (MCL) that transdifferentiated into sarcoma with limited neuromuscular differentiation. An 81-year-old man with t(11;14)-positive MCL was treated with rituximab and bendamustine and achieved complete remission; however, just 2 months later, the patient developed multiple systemic tumors. Pathologic studies revealed round cell sarcoma expressing synaptophysin, CD56, and myogenin without any B-cell markers. The CCND1 translocation and an identical IGL gene rearrangement were shared by both the MCL and sarcoma. Whole-exome sequencing detected 189 single nucleotide variants (SNVs) in the MCL and 205 SNVs in the sarcoma; 160 SNVs including NSD2, ATM, RB1, and TP53 mutations were shared between MCL and sarcoma cells. An additional PTPN11 mutation was specifically found in the sarcoma. These findings confirmed the shared clonal origin of MCL and sarcoma in this patient and indicated that MCL can transdifferentiate into sarcoma in rare cases.
我们报告了一例极为罕见的套细胞淋巴瘤（MCL）病例，该病例转分化为具有有限神经肌肉分化的肉瘤。一名81岁的男性，患有t(11;14)阳性MCL，接受了利妥昔单抗和苯达莫司汀治疗并实现了完全缓解；然而，仅2个月后，患者出现了多个系统性肿瘤。病理研究显示，圆形细胞肉瘤表达突触素、CD56和肌细胞生成素，而无任何B细胞标志物。MCL和肉瘤均存在CCND1易位以及相同的IGL基因重排。全外显子测序在MCL中检测到189个单核苷酸变异（SNV），在肉瘤中检测到205个SNV；MCL和肉瘤细胞共有160个SNV，包括NSD2、ATM、RB1和TP53突变。在肉瘤中还特别发现了一个额外的PTPN11突变。这些发现证实了该患者的MCL和肉瘤具有共同的克隆起源，并表明在罕见情况下MCL可转分化为肉瘤。
