Thrombopoietin Measurement as a Key Component in the Evaluation of Pediatric Thrombocytosis.
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ABSTRACT:
SUBMITTER: Nelson ND
PROVIDER: S-EPMC4916014 | biostudies-literature | 2016 Aug
REPOSITORIES: biostudies-literature
Publications
Thrombopoietin Measurement as a Key Component in the Evaluation of Pediatric Thrombocytosis.
Nelson Nya D ND Marcogliese Andrea A Bergstrom Katie K Scheurer Michael M Mahoney Donald D Bertuch Alison A AA
Pediatric blood & cancer 20160421 8
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 normal JAK2, MPL, and CALR analyses. Serum thrombopoietin (TPO) was markedly elevated, leading to analysis of the TPO gene, TPHO, which contains an upstream open reading frame (uORF) known to repress THPO translation. Sequencing revealed a de novo, germline stop ...[more]
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