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<p>Congenital myelofibrosis (cMF) is a rare inherited bone marrow failure disorder. We report a 26-year-old Chinese male with a 24-year history of recurrent epistaxis and thrombocytopenia. Laboratory findings revealed severe thrombocytopenia (18 × 10⁹/L) and bone marrow biopsy showed MF-3 fibrosis with impaired megakaryopoiesis. Genetic analysis identified a novel homozygous nonsense mutation in MPIG6B (c.420T &gt; A, p.Y140X), leading to a diagnosis of cMF. This case expands the clinical spectrum of MPIG6B-related disorders and illustrates the long-term natural history in a non-consanguineous population. The patient achieved clinical stability with eltrombopag and danazol.</p>

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MPIG6B-related thrombocytopenia and myelofibrosis: A case report

  • 期刊论文

  • 出版模式：

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  • 发表日期：

    2026年3月16日

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  • Xin Wang,
  • Feng Xue,
  • Lei Zhang,
  • Renchi Yang

摘要

Congenital myelofibrosis (cMF) is a rare inherited bone marrow failure disorder. We report a 26-year-old Chinese male with a 24-year history of recurrent epistaxis and thrombocytopenia. Laboratory findings revealed severe thrombocytopenia (18 × 10⁹/L) and bone marrow biopsy showed MF-3 fibrosis with impaired megakaryopoiesis. Genetic analysis identified a novel homozygous nonsense mutation in MPIG6B (c.420T > A, p.Y140X), leading to a diagnosis of cMF. This case expands the clinical spectrum of MPIG6B-related disorders and illustrates the long-term natural history in a non-consanguineous population. The patient achieved clinical stability with eltrombopag and danazol.