Virchows Archiv : an international journal of pathology · 2021
Transdifferentiation of mantle cell lymphoma into sarcoma with limited neuromuscular differentiation after conventional chemotherapy.
Клинический случайСтатьяНазвание и аннотация: Перевод пока не подготовлен
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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
Аннотация
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.