Thrombopoietin Measurement as a Key Component in the Evaluation of Pediatric Thrombocytosis. Issue 8 (21st April 2016)

• Record Type: Journal Article
• Authors: Nelson, Nya D.; Marcogliese, Andrea; Bergstrom, Katie; Scheurer, Michael; Mahoney, Donald; Bertuch, Alison A.
• Is Part Of: Pediatric blood & cancer. Volume 63:Issue 8(2016)
• Page Start: 1484
• Page End: 1487
• Publication Date: 2016-04-21
• Subjects: essential thrombocythemia -- THPO -- thrombocytosis -- thrombopoietin -- upstream open reading frame; Tumors in children -- Periodicals; Blood -- Diseases -- Periodicals; Cancer in children -- Periodicals; 618.92
• DOI: 10.1002/pbc.26032
• Languages: English
• ISSNs: 1545-5009

Abstract

Abstract : 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.