对一名接受非亲缘脐血移植治疗的青少年粒单核细胞白血病患者非造血组织中PTPN11突变的系列研究。
Serial investigation of PTPN11 mutation in nonhematopoietic tissues in a patient with juvenile myelomonocytic leukemia who was treated with unrelated cord blood transplantation.
作者信息
Hiramoto Rika, Imamura Toshihiko, Muramatsu Hideki, Wang Xinan, Kanayama Takuyo, Zuiki Masashi, Yoshida Hideki, Moroto Masaharu, Fujiki Atsushi, Chiyonobu Tomohiro, Osone Shinya, Ishida Hiroyuki, Kojima Seiji, Hosoi Hajime
机构信息
Department of Pediatrics, Kyoto Prefectural University of Medicine, Graduate School of Medical Science, 465 Kajii-cho, Hirokoji, Kamigyo-ku, Kyoto, 602-8566, Japan.
Department of Pediatrics, Nagoya University Graduate School of Medicine, Nagoya, Japan.
出版信息
Int J Hematol. 2015 Dec;102(6):719-22. doi: 10.1007/s12185-015-1877-y. Epub 2015 Oct 6.
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.
异基因干细胞移植后，非造血组织中含有供体来源的细胞；然而，非造血组织中是否也能发现来自恶性血液病的细胞尚不清楚。本报告描述了1例青少年骨髓单核细胞白血病（JMML）病例，该病例在诊断时骨髓单个核细胞、颊黏膜涂片细胞和指甲中存在典型的PTPN11突变（p.E76K），且等位基因频率不同，提示存在PTPN11体细胞镶嵌现象；然而，无关脐血移植后，颊黏膜涂片细胞和指甲中的PTPN11突变消失。这些结果表明，JMML来源的细胞可能迁移至并存在于非造血组织中，而且这些细胞可通过脐血移植被清除。
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