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Thrombopoietin Measurement as a Key Component in the Evaluation of Pediatric Thrombocytosis
Author(s) -
Nelson Nya D.,
Marcogliese Andrea,
Bergstrom Katie,
Scheurer Michael,
Mahoney Donald,
Bertuch Alison A.
Publication year - 2016
Publication title -
pediatric blood and cancer
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.116
H-Index - 105
eISSN - 1545-5017
pISSN - 1545-5009
DOI - 10.1002/pbc.26032
Subject(s) - thrombopoietin , essential thrombocythemia , upstream open reading frame , thrombocytosis , medicine , germline , calreticulin , germline mutation , mutation , gene , genetics , untranslated region , biology , platelet , messenger rna , haematopoiesis , stem cell , endoplasmic reticulum
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 stopgain mutation in the uORF, explaining the elevated TPO and thrombocytosis. This finding suggests that screening TPO levels and, if elevated, THPO 5′ UTR sequencing could be diagnostic.