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
Systemic Mastocytosis with an Associated Hematological Neoplasm, SM-AHNMD, Systemic Mastocytosis with Associated Clonal Hematological non-Mast-Cell Lineage Disease, SM-AHN
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.