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Blood, Vol. 92 No. 4 (August 15), 1998:
pp. 1091-1096
RAPID COMMUNICATION
Familial Essential Thrombocythemia Associated With One-Base
Deletion in the 5 -Untranslated Region of the
Thrombopoietin Gene
Takeshi Kondo,
Mihiro Okabe,
Masayoshi Sanada,
Mitsutoshi Kurosawa,
Sachiko Suzuki,
Masanobu Kobayashi,
Masuo Hosokawa, and
Masahiro Asaka
From the Third Department of Internal Medicine and the Laboratory of
Pathology, Cancer Institute, Hokkaido University School of Medicine,
Sapporo, Hokkaido, Japan; and the Department of Hematology, Niigata
City General Hospital, Niigata-shi, Niigata Prefecture, Japan.
Familial essential thrombocythemia (ET) is inherited in an
autosomal-dominant manner. This finding implies that familial ET may
arise as a consequence of a mutation(s) that activates platelet production. In 1994, the thrombopoietin (TPO) gene was
isolated and cloned. The TPO-TPO receptor, encoded for by the
c-mpl gene, are essential regulators of thrombopoiesis.
Alterations of TPO or c-Mpl thus may constitute a pathogenic event
leading to familial ET. In a case of familial ET presented in our
institute, serum TPO levels were significantly elevated in affected
members of the family as compared with nonaffected members. Moreover,
we identified a one-base deletion in the 5 -untranslated region of the
TPO gene in affected but not in nonaffected family members. In
vitro experiments showed that the identified mutation increased TPO
production. Based on our findings, we propose that this region of the
TPO gene may play a crucial role in regulating TPO expression. Our results strongly suggest that the identified mutation leads to
familial ET.
© 1998 by The American Society of Hematology.
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