Case Report: Primary Acute Mast Cell Leukemia with FGFR1 Rearrangement

A clinical case report details the experience of a patient with a rare and aggressive form of mast cell leukemia. The report, authored by Yalu Liu and last updated in May 2026, describes a case negative for common KIT mutations but positive for an FGFR1 gene rearrangement. It documents the patient's presentation with intractable shock and bone destruction, and the treatment response to initial and targeted therapies.

Use Cases

• Studying clinical presentation and prognosis of rare mast cell leukemia subtypes based on the detailed case description.
• Investigating molecular targets beyond KIT mutations in aggressive mastocytosis based on the reported FGFR1 rearrangement.
• Analyzing treatment response patterns in refractory leukemia based on the documented use of venetoclax, azacitidine, and an FGFR1 inhibitor.

Strengths

• The report is the first to document an FGFR1 gene rearrangement in a mast cell leukemia patient, providing a novel molecular insight.
• It includes specific clinical details such as presentation with intractable shock and extensive bone destruction.
• The document is shared under a permissive CC-BY-4.0 license, allowing for reuse and redistribution.

Limitations

• The dataset is a single case report (16.9 KB), representing a sample size of one, which limits generalizability.
• Column-level documentation and structured data are absent; all information is contained within narrative text.
• Row count is unknown, which may limit suitability assessment for quantitative analysis.

Provenance

Source

figshare

Collection Method

Clinical case documentation.

Freshness

Last updated 2026-05-07 04:46:22