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01-12-2015 | Case Report

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

Authors: 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

Published in: International Journal of Hematology | Issue 6/2015

Abstract

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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Title: Serial investigation of PTPN11 mutation in nonhematopoietic tissues in a patient with juvenile myelomonocytic leukemia who was treated with unrelated cord blood transplantation
Authors: 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
Publication date: 01-12-2015
Publisher: Springer Japan
Published in: International Journal of Hematology / Issue 6/2015
Print ISSN: 0925-5710
Electronic ISSN: 1865-3774
DOI: https://doi.org/10.1007/s12185-015-1877-y

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