Thrombopoietin Measurement as a Key Component in the Evaluation of Pediatric Thrombocytosis.
Thrombopoietin Measurement as a Key Component in the Evaluation of Pediatric Thrombocytosis.
复制标题
DOI：
10.1002/pbc.26032
复制
发表时间：
2016-08
影响因子：
3.2
通讯作者：
Bertuch AA
中科院分区：
文献类型：
--
作者：
Nelson ND;Marcogliese A;Bergstrom K;Scheurer M;Mahoney D;Bertuch AA
JAK2、MPL和CALR突变是大多数成人原发性血小板增多症（ET）的基础，但在儿童中并不常见。因此，需要额外的测试来确认儿科ET诊断。我们报告一个孩子怀疑ET和pJAK2，MPL和CALR分析。血清血小板生成素显著升高，导致分析血小板生成素基因TPHO，其含有已知抑制THPO翻译的上游开放阅读框（uORF）。测序显示，从头，生殖细胞stopgain突变的uORF，解释升高血小板生成素和血小板增多。这表明筛选血小板生成素水平和THPO 5' UTR测序（如果升高）可能是诊断性的。
JAK2, MPL, and CALR mutations, which underlie essential thrombocythemia (ET) in most adults, are infrequent in children. Consequently, additional tests are needed to confirm pediatric ET diagnoses. We report a child with suspected ET and p JAK2, MPL, and CALR analyses. Serum thrombopoietin was markedly elevated, leading to analysis of the thrombopoietin gene, TPHO, which contains an upstream open reading frame (uORF) known to repress THPO translation. Sequencing revealed a de novo, germline stopgain mutation in the uORF, explaining the elevated thrombopoietin and thrombocytosis. This suggests that screening thrombopoietin levels and, if elevated, THPO 5’ UTR sequencing could be diagnostic.