International Journal of Hematology

DOI: 10.1007/s12185-015-1877-y Pages: 719-722

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

1. Kyoto Prefectural University of Medicine, Graduate School of Medical Science, Department of Pediatrics

2. Nagoya University Graduate School of Medicine, Department of Pediatrics

3. Matsushita Memorial Hospital, Department of Pediatrics

Correspondence to:
Toshihiko Imamura
Tel: 81-75-251-5571



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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