Work

MPIG6B-related thrombocytopenia and myelofibrosis: A case report

Year: 2026

Type: article

Abstract: 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.

Source: Annals of Hematology

DOI: 10.1007/s00277-026-06933-1

Authors: Xin Wang, Feng Xue, Lei Zhang, Renchi Yang

Institutions: Chinese Academy of Medical Sciences & Peking Union Medical College, Institute of Hematology & Blood Diseases Hospital, State Key Laboratory of Experimental Hematology

Language: English

Topic: Myeloproliferative Neoplasms: Diagnosis and Treatment

Subfield: Genetics

Field: Medicine

Domain: Health Sciences

SDG: Good health and well-being

Open Access status: gold

Estimated APC paid: $4,590