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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.

DOI:10.1007/s00431-005-0031-x
PMID:16369799
Abstract

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.

摘要

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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本文引用的文献

1
Noonan syndrome and related disorders: genetics and pathogenesis.努南综合征及相关疾病：遗传学与发病机制
Annu Rev Genomics Hum Genet. 2005;6:45-68. doi: 10.1146/annurev.genom.6.080604.162305.
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Functional analysis of leukemia-associated PTPN11 mutations in primary hematopoietic cells.原发性造血细胞中白血病相关PTPN11突变的功能分析
Blood. 2005 Jul 1;106(1):311-7. doi: 10.1182/blood-2004-11-4207. Epub 2005 Mar 10.
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Prognostic, therapeutic, and mechanistic implications of a mouse model of leukemia evoked by Shp2 (PTPN11) mutations.
多种综合征性耳聋基因的变异模拟非综合征性听力损失。
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由Shp2（PTPN11）突变引发的白血病小鼠模型的预后、治疗及机制研究意义
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Human somatic PTPN11 mutations induce hematopoietic-cell hypersensitivity to granulocyte-macrophage colony-stimulating factor.人类体细胞PTPN11突变导致造血细胞对粒细胞-巨噬细胞集落刺激因子超敏。
Blood. 2005 May 1;105(9):3737-42. doi: 10.1182/blood-2004-10-4002. Epub 2005 Jan 11.
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Hematopoietic stem cell transplantation (HSCT) in children with juvenile myelomonocytic leukemia (JMML): results of the EWOG-MDS/EBMT trial.青少年粒单核细胞白血病（JMML）患儿的造血干细胞移植（HSCT）：EWOG-MDS/EBMT试验结果
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6
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