Open AccessIntestinal Behçet disease associated with myelodysplastic syndrome accompanying trisomy 8 successfully treated with abdominal surgery followed by hematopoietic stem cell transplantation
Author(s) -
Tomohiko Asano,
Shuzo Sato,
Makiko Yashiro Furuya,
Hiroshi Takahashi,
Akiko Shichishima-Nakamura,
Hiroshi Ohkawara,
Tatsuo Fujiwara,
Naohiko Gunji,
Choichiro Hashimoto,
Tomoyuki Momma,
Motonobu Saito,
Hiroshi Nakano,
Guy Watanabe,
Jumpei Temmoku,
Yuya Fujita,
Naoki Matsuoka,
Hiroko Kobayashi,
Hiroshi Watanabe,
Mariko Mouri,
Fumi Mashiyama,
Hitoshi Sakuma,
Hiromasa Ohira,
Masaaki Mori,
Takayuki Ikezoe,
Kiyoshi Migita
Publication year - 2019
Publication title -
medicine
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.59
H-Index - 148
eISSN - 1536-5964
pISSN - 0025-7974
DOI - 10.1097/md.0000000000017979
Subject(s) - medicine , trisomy 8 , transplantation , hematopoietic stem cell transplantation , trisomy , gastroenterology , surgery , myelodysplastic syndromes , bone marrow , karyotype , biochemistry , chemistry , genetics , biology , chromosome , gene
Rationale: Intestinal Behçet disease (BD) with myelodysplastic syndrome (MDS) is a rare condition that is resistant to various immunosuppressive therapies. Several cases in which hematopoietic stem cell transplantation (HSCT) was effective for intestinal BD with MDS accompanying trisomy 8 have been reported. Patient concerns: We report an 18-year-old female with a 7-year history of BD. Colonoscopy demonstrated a huge ulcer in the cecum. Chromosomal examination revealed a karyotype of trisomy 8 in 87% of cells. Bone marrow examination revealed dysplastic cells in multilineages. Diagnoses: A diagnosis of intestinal BD associated with MDS accompanying trisomy 8 was made. Interventions: The patient underwent ileocecal resection due to microperforations of ileocecal ulcers; she then underwent allogeneic peripheral blood stem cell transplantation (PBSCT) with her mother as a donor. Outcomes: After the PBSCT, the patient's symptoms due to BD (fever, oral aphthae, abdominal pain, and genital ulcers) completely disappeared, with no severe adverse events. Lessons: The present case demonstrates that HSCT including PBSCT might be an effective new therapeutic option for refractory intestinal BD with MDS when immunosuppressive therapy has achieved insufficient efficacy.