Acquired Amegakaryocytic Thrombocytopenia as a Precursor to Marrow Failure and Clonal Disease: A Scoping Review of Progression Cases

Document Type

Abstract

Publication Date

6-1-2026

Abstract

Background Acquired amegakaryocytic thrombocytopenia (AAMT) is a rare marrow disorder marked by severe thrombocytopenia with absent or markedly reduced megakaryocytes. Early presentations may resemble immune thrombocytopenia, which can delay recognition of evolving marrow failure or clonal disease. Aims To summarize published cases of acquired AAMT that subsequently progressed to aplastic anemia (AA), pure red cell aplasia (PRCA), myelodysplastic syndrome (MDS), acute myeloid leukemia (AML), or large granular lymphocytic (LGL) leukemia, and to describe diagnostic features, treatment patterns, and outcomes Methods A scoping review was conducted in accordance with PRISMA-ScR guidance. PubMed, Google Scholar, the Cochrane Library, and Qatar National Library resources were searched for English-language human reports published from 1950 through December 2025. Eligible studies were case reports or case series describing acquired AAMT followed by progression to AA, PRCA, MDS, AML, or LGL leukemia. Two reviewers independently screened records and extracted study data. Treatment responses were categorized as complete response, partial response, or no response. Results Twenty-three reports comprising 24 patients published between 1978 and 2023 met inclusion criteria. Median age was 49 years (range, 16-82), and the sex distribution was balanced. Bleeding manifestations were reported in 14/24 patients. After exclusion of extreme outliers, the median presenting platelet count was 5.0 x10^9/L. The most frequent progression phenotypes were AA (13/24) and PRCA (9/24), whereas MDS (3/24), AML (2/24), and LGL leukemia (2/24) were less common. Cytogenetic data were reported in 12/24 cases, with one abnormal result (del(5q)). Molecular testing was available in 9/24 cases and identified clonal or abnormal findings in 3. Initial management often followed immune thrombocytopenia practice, most commonly corticosteroids (15/24) and IVIG (8/24), but responses were limited (complete response, n=3; partial response, n=3; no response, n=17 among 23 evaluable patients). Cyclosporine was the most frequently used subsequent therapy, and hematopoietic stem cell transplantation was performed in 3 patients. At last follow-up, 14 patients were alive and 8 had died. Summary/Conclusion In published progression cases, acquired AAMT most often evolved into immune marrow-failure phenotypes, particularly AA and PRCA, while clonal myeloid transformation was uncommon but documented. Severe thrombocytopenia that is refractory to immune thrombocytopenia-directed therapy should prompt early bone marrow evaluation and close longitudinal surveillance for multilineage cytopenias and clonal evolution. Prospective studies with standardized cytogenetic and molecular assessment are needed to improve risk stratification and treatment selection.

Publication Title

HemaSphere

Volume

10

Issue

Supplement 1

First Page

1143

Last Page

1144

Comments

31st Congress of the European Hematology Association Congress held 2026-06-11 to 2026-06-14 in Stockholm, Sweden.

Link to Full Text

Open Access

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