一名患有种系PTPN11突变的新生儿中红系前体细胞的致死性增殖。
Lethal proliferation of erythroid precursors in a neonate with a germline PTPN11 mutation.
作者信息
Kratz Christian Peter, Nathrath Michaela, Freisinger Peter, Dressel Petra, Assmuss Hans-Peter, Klein Cornelia, Yoshimi Ayami, Burdach Stefan, Niemeyer Charlotte Marie
机构信息
Department of Pediatrics and Adolescent Medicine, University of Freiburg, Freiburg, Germany.
出版信息
Eur J Pediatr. 2006 Mar;165(3):182-5. doi: 10.1007/s00431-005-0031-x. Epub 2005 Dec 21.
We report a neonate with hypertrophic cardiomyopathy and lethal myeloproliferative disorder with excessively proliferating immature erythroid precursors infiltrating non-hematopoietic organs. Mutational analysis uncovered a germline mutation in the Noonan syndrome/LEOPARD syndrome (NS/LS) gene PTPN11. In conclusion, this case report suggests that congenital myeloproliferative disorders in association with germline PTPN11 mutations may affect the erythroid lineage.
我们报告了一名患有肥厚型心肌病和致死性骨髓增殖性疾病的新生儿，其未成熟的红系前体细胞过度增殖并浸润非造血器官。突变分析发现努南综合征/豹皮综合征（NS/LS）基因PTPN11存在种系突变。总之，本病例报告提示，与种系PTPN11突变相关的先天性骨髓增殖性疾病可能会影响红系谱系。
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