title: 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.affiliation: Department of Pediatrics, Kyoto Prefectural University of Medicine, Graduate School of Medical Science, 465 Kajii-cho, Hirokoji, Kamigyo-ku, Kyoto, 602-8566, Japan.
authors.forename: Rika
authors.initials: R
authors.lastname: Hiramoto
authors.affiliation: Department of Pediatrics, Kyoto Prefectural University of Medicine, Graduate School of Medical Science, 465 Kajii-cho, Hirokoji, Kamigyo-ku, Kyoto, 602-8566, Japan. imamura@koto.kpu-m.ac.jp.
authors.forename: Toshihiko
authors.initials: T
authors.lastname: Imamura
authors.affiliation: Department of Pediatrics, Nagoya University Graduate School of Medicine, Nagoya, Japan.
authors.forename: Hideki
authors.initials: H
authors.lastname: Muramatsu
authors.affiliation: Department of Pediatrics, Nagoya University Graduate School of Medicine, Nagoya, Japan.
authors.forename: Xinan
authors.initials: X
authors.lastname: Wang
authors.affiliation: Department of Pediatrics, Kyoto Prefectural University of Medicine, Graduate School of Medical Science, 465 Kajii-cho, Hirokoji, Kamigyo-ku, Kyoto, 602-8566, Japan.
authors.forename: Takuyo
authors.initials: T
authors.lastname: Kanayama
authors.affiliation: Department of Pediatrics, Kyoto Prefectural University of Medicine, Graduate School of Medical Science, 465 Kajii-cho, Hirokoji, Kamigyo-ku, Kyoto, 602-8566, Japan.
authors.forename: Masashi
authors.initials: M
authors.lastname: Zuiki
authors.affiliation: Department of Pediatrics, Kyoto Prefectural University of Medicine, Graduate School of Medical Science, 465 Kajii-cho, Hirokoji, Kamigyo-ku, Kyoto, 602-8566, Japan.
authors.forename: Hideki
authors.initials: H
authors.lastname: Yoshida
authors.affiliation: Department of Pediatrics, Kyoto Prefectural University of Medicine, Graduate School of Medical Science, 465 Kajii-cho, Hirokoji, Kamigyo-ku, Kyoto, 602-8566, Japan.
authors.forename: Masaharu
authors.initials: M
authors.lastname: Moroto
authors.affiliation: Department of Pediatrics, Matsushita Memorial Hospital, Moriguchi, Japan.
authors.forename: Atsushi
authors.initials: A
authors.lastname: Fujiki
authors.affiliation: Department of Pediatrics, Kyoto Prefectural University of Medicine, Graduate School of Medical Science, 465 Kajii-cho, Hirokoji, Kamigyo-ku, Kyoto, 602-8566, Japan.
authors.forename: Tomohiro
authors.initials: T
authors.lastname: Chiyonobu
authors.affiliation: Department of Pediatrics, Kyoto Prefectural University of Medicine, Graduate School of Medical Science, 465 Kajii-cho, Hirokoji, Kamigyo-ku, Kyoto, 602-8566, Japan.
authors.forename: Shinya
authors.initials: S
authors.lastname: Osone
authors.affiliation: Department of Pediatrics, Matsushita Memorial Hospital, Moriguchi, Japan.
authors.forename: Hiroyuki
authors.initials: H
authors.lastname: Ishida
authors.affiliation: Department of Pediatrics, Nagoya University Graduate School of Medicine, Nagoya, Japan.
authors.forename: Seiji
authors.initials: S
authors.lastname: Kojima
authors.affiliation: Department of Pediatrics, Kyoto Prefectural University of Medicine, Graduate School of Medical Science, 465 Kajii-cho, Hirokoji, Kamigyo-ku, Kyoto, 602-8566, Japan.
authors.forename: Hajime
authors.initials: H
authors.lastname: Hosoi
mesh_terms: D001854:Bone Marrow Cells; D036101:Cord Blood Stem Cell Transplantation; D005787:Gene Frequency; D006801:Humans; D007223:Infant; D054429:Leukemia, Myelomonocytic, Juvenile / Q000235:genetics* / Q000473:pathology / Q000601:surgery*; D008297:Male; D009030:Mosaicism; D009061:Mouth Mucosa / Q000166:cytology; D009154:Mutation; D009262:Nails; D054562:Protein Tyrosine Phosphatase, Non-Receptor Type 1 / Q000235:genetics*
chemical_list: C516607:PTPN1 protein, human; D054562:Protein Tyrosine Phosphatase, Non-Receptor Type 1
keywords: Cord blood transplantation; Juvenile myelomonocytic leukemia; Nonhematological tissue; PTPN11; Somatic mosaicism