Kumamoto Tadashi, Aoki Yuki, Sonoda Tomoko, Yamanishi Miho, Arakawa Ayumu, Sugiyama Masanaka, Shirakawa Nami, Ishimaru Sae, Saito Yoshimasa, Maeshima Akiko, Maeda Miho, Ogawa Chitose
Department of Pediatric Oncology, National Cancer Center Hospital, 5-1-1 Tsukiji, Chuo-ki, Tokyo, 104-0045, Japan.
Department of Pediatrics, Nippon Medical School, Tokyo, Japan.
Int J Hematol. 2019 Feb;109(2):228-232. doi: 10.1007/s12185-018-2553-9. Epub 2018 Oct 25.
Histiocytic sarcoma in advanced clinical stages is typically an aggressive neoplasm, with poor response to conventional chemotherapy. An 18-year-old male with refractory histiocytic sarcoma that had transformed from Rosai-Dorfman disease was admitted to our hospital. A pathogenic variant of MAP2K1 was detected by next-generation sequencing of tumor specimens. Affected regions showed excellent responses to the MEK inhibitor trametinib. It has been reported that RAS/MEK/ERK pathway is activated in many cases of histiocytic sarcoma. MEK inhibition may represent a useful treatment option in histiocytic sarcoma.
晚期临床阶段的组织细胞肉瘤通常是一种侵袭性肿瘤，对传统化疗反应不佳。一名18岁男性因从罗萨伊-多夫曼病转变而来的难治性组织细胞肉瘤入住我院。通过肿瘤标本的二代测序检测到MAP2K1的一个致病变体。受影响区域对MEK抑制剂曲美替尼表现出良好反应。据报道，RAS/MEK/ERK通路在许多组织细胞肉瘤病例中被激活。MEK抑制可能是组织细胞肉瘤的一种有效治疗选择。
