NCI Definition: A variant of mastocytosis characterized by multifocal, dense infiltrates of mast cells (15 or more mast cells in aggregates) detected in the bone marrow and/or other extracutaneous sites. (WHO, 2001) -- 2003 [1]

Systemic mastocytosiss most frequently harbor alterations in KIT, ASXL1, TET2, ETV6, and CDKN2A [2].

Most Commonly Altered Genes in Systemic Mastocytosis

KIT Mutation (somatic), KIT Mutation, KIT D816V, KIT Codon 816 Missense, and ASXL1 Mutation are the most common alterations in systemic mastocytosis [2].

Top Alterations in Systemic Mastocytosis

Significant Genes in Systemic Mastocytosis


Disease Details

Systemic mastocytosis, NOS, Systemic Tissue Mast Cell Disease, systemic mastocytosis
Indolent Systemic Mastocytosis, Malignant Mastocytosis, and Smoldering Systemic Mastocytosis
OncoTree Name
Systemic Mastocytosis
OncoTree Code


1. National Cancer Institute. NCI Thesaurus Version 18.11d. https://ncit.nci.nih.gov/ncitbrowser/ [2018-08-28]. [2018-09-21].

2. The AACR Project GENIE Consortium. AACR Project GENIE: powering precision medicine through an international consortium. Cancer Discovery. 2017;7(8):818-831. Dataset Version 4. This dataset does not represent the totality of the genetic landscape; see paper for more information.

3. All assertions and clinical trial landscape data are curated from primary sources. You can read more about the curation process here.