Serial investigation of PTPN11 mutation in nonhematopoietic tissues in a patient with juvenile myelomonocytic leukemia who was treated with unrelated cord blood transplantation

被引：0
作者：
Rika Hiramoto
Toshihiko Imamura
Hideki Muramatsu
Xinan Wang
Takuyo Kanayama
Masashi Zuiki
Hideki Yoshida
Masaharu Moroto
Atsushi Fujiki
Tomohiro Chiyonobu
Shinya Osone
Hiroyuki Ishida
Seiji Kojima
Hajime Hosoi
机构：
[1] Kyoto Prefectural University of Medicine,Department of Pediatrics
[2] Graduate School of Medical Science,Department of Pediatrics
[3] Nagoya University Graduate School of Medicine,Department of Pediatrics
[4] Matsushita Memorial Hospital,undefined
来源：
International Journal of Hematology | 2015年 / 102卷
关键词：
Juvenile myelomonocytic leukemia; Nonhematological tissue; Somatic mosaicism; Cord blood transplantation;
D O I：
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学科分类号：
摘要：
After allogeneic stem-cell transplantation, nonhematopoietic tissues contain donor-derived cells; however, whether cells from malignant hematological disease can also be found in nonhematopoietic tissues is unclear. This report describes a juvenile myelomonocytic leukemia (JMML) case with a typical PTPN11 mutation (p.E76K) at different allele frequencies in the bone marrow mononuclear cells, buccal smear cells, and fingernails at diagnosis, which was suggestive of PTPN11 somatic mosaicism; however, the PTPN11 mutation in the buccal smear cells and fingernails was lost after unrelated cord blood transplantation. These results suggest that JMML-derived cells may migrate into and reside in nonhematopoietic tissues and furthermore that these cells can be eradicated by cord blood transplantation.
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页码：719 / 722
页数：3
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