Molecular Characterization of Pediatric Mastocytosis: 36 Patients with Genetic Mutations

Data Sheet 1 contains molecular data from a study of 36 pediatric mastocytosis patients diagnosed between 1997 and 2021. The dataset includes results from RT-PCR, ddPCR, and Next-Generation Sequencing (NGS) panels for rare and myeloid genes, identifying c-KIT and other mutations. It was authored by Deborah Kasmi and shared under a CC-BY-4.0 license on figshare.

Use Cases

• Correlating specific genetic mutations (e.g., c-KIT D816V, ASXL1 G1397S) with clinical subtypes (MPCM, DCM, mastocytoma) based on the description.
• Assessing the sensitivity of RT-PCR versus NGS techniques for detecting c-KIT mutations as described in the results.
• Investigating the prognostic value of novel mutations (e.g., ETV6 A215P, SH2B3 G382D) identified in the pediatric cohort.
• Analyzing the relationship between tryptase levels at onset and disease subtype or progression to indolent systemic mastocytosis (ISM).
• Studying patterns of spontaneous lesion regression in relation to the mutational burden described in the patient cohort.

Strengths

• Includes data from 36 pediatric patients with a median lesion onset age of 4.7 months.
• Reports results from multiple molecular techniques (RT-PCR, ddPCR, NGS) for cross-validation.
• Identifies 10 myeloid gene mutations, including 5 not previously described.
• Provides temporal data, including median time to spontaneous regression (25 months) and follow-up for ISM development (up to 20 years).

Limitations

• Row count and column-level documentation are unknown, requiring manual inspection after download.
• The dataset is small (156.7 KB), indicating limited scope and sample size.
• Data may reflect temporal bias inherent to the 1997-2021 diagnosis period and the single-study source.

Provenance

Source

Deborah Kasmi via figshare.

Collection Method

Peripheral blood samples from 36 patients were analyzed using RT-PCR, ddPCR, and NGS panels.

Time Range

Patients diagnosed between 1997 and 2021.

Freshness

Last updated 2026-03-18 07:41:34.

Geography

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