Thrombopoietin Measurement as a Key Component in the Evaluation of Pediatric Thrombocytosis.
Pediatr Blood Cancer
; 63(8): 1484-7, 2016 08.
Article
em En
| MEDLINE
| ID: mdl-27100794
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.
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Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Trombopoetina
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Calreticulina
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Janus Quinase 2
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Receptores de Trombopoetina
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Trombocitemia Essencial
Limite:
Humans
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Infant
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Male
Idioma:
En
Revista:
Pediatr Blood Cancer
Assunto da revista:
HEMATOLOGIA
/
NEOPLASIAS
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PEDIATRIA
Ano de publicação:
2016
Tipo de documento:
Article