Common acute lymphoblastic leukemia in a girl with genetically confirmed LEOPARD syndrome
Common acute lymphoblastic leukemia in a girl with genetically confirmed LEOPARD syndrome
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DOI：
10.1097/mph.0b013e31817588fb
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发表时间：
2008-08-01
影响因子：
1.2
通讯作者：
Sauerbrey, Axel
中科院分区：
文献类型：
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作者：
Laux, Daniela;Kratz, Christian;Sauerbrey, Axel
PTPN11基因的种系突变导致努南综合征和临床上类似的LEOPARD综合征（LS）。LS是一种罕见的先天性发育障碍，其特征是多发性雀斑、心脏异常、面部畸形、生长迟缓和耳聋。PTPN11基因外显子7和12的突变可以在近90%的LS患者中鉴定。PTPN 11基因编码一种广泛表达的蛋白酪氨酸磷酸酶SHP-2，参与发育和造血过程中的多种细胞内信号传导过程。体细胞PTPN11突变有助于血液恶性肿瘤儿童的白血病发生，包括青少年骨髓单核细胞白血病，急性淋巴细胞白血病，急性髓性白血病和骨髓增生异常。在LS儿童中报告了2例白血病（急性髓性白血病）。作者首次描述了一个女孩与基因确诊的豹综合征表现为常见的急性淋巴细胞白血病。
Germline mutations in PTPN11 gene cause Noonan syndrome and the clinically similar LEOPARD syndrome (LS). LS is a rare congenital developmental disorder characterized by multiple lentigines, cardiac abnormalities, facial dysmorphism, retardation of growth, and deafness. Mutations in exons 7 and 12 of the PTPN11 gene can be identified in nearly 90% of patients with LS. PTPN11 gene encodes for an ubiquitously expressed protein tyrosine phosphatase SHP-2 involved in a variety of intracellular signaling processes in development and hematopoiesis. Somatic PTPN11 mutations contribute to leukemogenesis in children with hematologic malignancies including juvenile myelomonocytic leukemia, acute lymphoblastic leukemia, acute myeloid leukemia, and myelodysplasia. Two cases of leukemia (acute myeloid leukemia) have been reported in children with LS. The authors describe for the first time a girl with genetically confirmed LEOPARD syndrome presenting with common acute lymphoblastic leukemia.