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Frequency and clinical features of the JAK2 V617F mutation in pediatric patients with sporadic essential thrombocythemia
Author(s) -
Nakatani Takuya,
Imamura Toshihiko,
Ishida Hiroyuki,
Wakaizumi Katsuji,
Yamamoto Tohru,
Otabe Osamu,
Ishigami Tsuyoshi,
Adachi Souichi,
Morimoto Akira
Publication year - 2008
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.21730
Subject(s) - essential thrombocythemia , medicine , mutation , jak2 v617f , exon , polycythemia rubra vera , genotyping , polycythemia vera , pathology , genetics , gastroenterology , myelofibrosis , genotype , gene , biology , bone marrow
Background Pediatric essential thrombocythemia (ET) is a rare and heterogenous disease entity. While several recent studies have focused on the role of the JAK2 V617F mutation in pediatric ET, the frequency of pediatric ET cases with this mutation and the associated clinical features remain unclear. Procedure We examined six childhood cases who had been diagnosed with ET according to WHO criteria (onset age: 0.2–14 years) for the presence of the JAK2 V617F mutation, MPL W515L mutation and JAK2 exon 12 mutations. Two sensitive PCR‐based methods were used for the JAK2 V617F genotyping. We also examined the expression of polycythemia rubra vera‐1 ( PRV‐1 ), which is a diagnostic marker for clonal ET. Results We found that three of the six cases had the JAK2 V617F mutation and that all six cases expressed PRV‐1 in their peripheral granulocytes. Neither MPL W515L mutation nor JAK2 exon 12 mutations was detected in the patients without JAK2 V617F mutation. The two patients who developed thrombocythemia during infancy were JAK2 V617F‐negative. Conclusions These findings suggest that the JAK2 V617F mutation is not rare in childhood sporadic ET cases, and that these cases might be older and myeloproliferative features. Pediatr Blood Cancer 2008;51:802–805. © 2008 Wiley‐Liss, Inc.