A case of recurrent histiocytic sarcoma with MAP2K1 pathogenic variant treated with the MEK inhibitor trametinib

• DOI: 10.1007/s12185-018-2553-9
• Publication Date: 2018-10-25T04:24:45Z
• Authors: Tadashi Kumamoto; Yuki Aoki; Tomoko Sonoda; Miho Yamanishi; Ayumu Arakawa; Masanaka Sugiyama; Nami Shirakawa; Sae Ishimaru; Yoshimasa Saito; Akiko Maeshima; Miho Maeda; Chitose Ogawa
• Keywords: Histiocytic sarcoma; Trametinib; Hematology

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.