Familial thrombocytosis may be driven by altered regulation of the TPO gene leading to increased serum TPO levels, even in the absence of TPO or c-MPL mutations.
May implicate TPO regulatory defects in familial thrombocytosis; hypothesis-generating and should not yet change practice.
Familial thrombocytosis (FT) is an inherited disorder with clinical presentations similar to essential thrombocytosis (ET). In several pedigrees, overproduction of thrombopoietin (TPO) has been shown to be responsible for the disease. We report herein three cases of thrombocytosis in three successive generations. All cases had increased serum TPO levels. Sequence analysis of TPO gene and transmembrane domain of c-MPL, known as the TPO receptor, revealed no mutations. Platelet c-MPL expression was similar or slightly increased as compared to normal volunteers. These data suggest that altered regulation of the TPO gene might be involved in the pathogenesis of FT.
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Fujiwara et al. (2004) studied this question.
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