Case Report: Primary Acute Mast Cell Leukemia with FGFR1 Gene Rearrangement

Yalu Liu published a case report on figshare in May 2026 detailing a rare instance of primary acute mast cell leukemia. The report describes a patient presenting with intractable shock and extensive bone destruction, who tested negative for common KIT gene mutations but positive for an FGFR1 gene rearrangement. The 95.9 KB PDF document covers the patient's treatment journey, including initial ineffectiveness of venetoclax and azacitidine and a subsequent shift to an FGFR1 inhibitor.

Use Cases

• Studying clinical presentation and prognosis of rare mast cell leukemia subtypes based on the detailed case description.
• Investigating the role of FGFR1 gene rearrangements in hematologic cancers based on the molecular finding reported.
• Analyzing treatment response patterns in aggressive leukemia based on the documented shift from venetoclax/azacitidine to an FGFR1 inhibitor.

Strengths

• The report documents the first known case of FGFR1 gene rearrangement in a mast cell leukemia patient, providing a novel molecular insight.
• The case description includes specific clinical details such as intractable shock, extensive bone destruction, and a sequenced treatment regimen.

Limitations

• The dataset is a single case report (95.9 KB), representing a limited sample size of one patient.
• Column-level documentation for any underlying data is absent; field semantics must be inferred from the narrative text.
• Description metadata is limited; actual data quality and structure require manual inspection after download.

Provenance

Source

Yalu Liu via figshare

Collection Method

Clinical case documentation and analysis.

Freshness

Last updated 2026-05-07 04:46:21; freshness should be verified.