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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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)
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Chemical References |
- PTPN1 protein, human
- Protein Tyrosine Phosphatase, Non-Receptor Type 1
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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)
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