Overview

NCI Definition: An aggressive and progressive mast cell neoplasm characterized by systemic infiltration of internal organs by aggregates of neoplastic mast cells. There is no evidence of mast cell leukemia or clonal hematologic malignancy. Clinical symptoms include hepatomegaly, splenomegaly, portal hypertension, malabsorption syndrome, and pathologic fractures. [1]

Significant Genes in Aggressive Systemic Mastocytosis

AKT1 +

AKT2 +

AKT3 +

CRKL +

EGFR +

ERBB2 +

FLT3 +

IRS2 +

KIT +

MET +

MTOR +

PDGFRA +

PIK3CA +

PIK3CG +

PIK3R1 +

PIK3R2 +

PTEN +

RICTOR +

RNF43 +

RPTOR +

TSC1 +

TSC2 +

Disease Details

Synonyms
ASM
Parent(s)
Malignant Mastocytosis
OncoTree Name
Aggressive Systemic Mastocytosis
OncoTree Code
ASM

References

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 6. 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.