Overview

NCI Definition: A disorder characterized by systemic infiltration of internal organs by aggregates of neoplastic mast cells and the presence of a clonal non-mast cell hematologic neoplasm (e.g., myelodysplastic syndrome, chronic myeloproliferative disorder, acute myeloid leukemia, and lymphoma). [1]

Significant Genes in Systemic Mastocytosis with an Associated Hematological Neoplasm (SM-AHN)

AKT1 +

AKT2 +

AKT3 +

CRKL +

EGFR +

ERBB2 +

IRS2 +

KIT +

MET +

MTOR +

PDGFRA +

PIK3CA +

PIK3CG +

PIK3R1 +

PIK3R2 +

PTEN +

RICTOR +

RNF43 +

RPTOR +

TSC1 +

TSC2 +

Disease Details

Synonyms
SM-AHN, SM-AHNMD, Systemic Mastocytosis with Associated Clonal Hematological non-Mast-Cell Lineage Disease, Systemic Mastocytosis with an Associated Hematological Neoplasm
Parent(s)
Malignant Mastocytosis
OncoTree Name
Systemic Mastocytosis with an Associated Hematological Neoplasm
OncoTree Code
SMAHN

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.