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

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.

• 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
• Journal: International journal of hematology (Int J Hematol) Vol. 102 Issue 6 Pg. 719-22 (Dec 2015) ISSN: 1865-3774 [Electronic] Japan
• PMID: 26440969 (Publication Type: Case Reports, Journal Article)

Chemical References

• PTPN1 protein, human
• Protein Tyrosine Phosphatase, Non-Receptor Type 1

Topics

• Bone Marrow Cells
• Cord Blood Stem Cell Transplantation
• Gene Frequency
• Humans
• Infant
• Leukemia, Myelomonocytic, Juvenile (genetics, pathology, surgery)
• Male
• Mosaicism
• Mouth Mucosa (cytology)
• Mutation
• Nails
• Protein Tyrosine Phosphatase, Non-Receptor Type 1 (genetics)