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]

Systemic mastocytosis with an associated hematological neoplasm (SM-AHN)s most frequently harbor alterations in TET2, KIT, JAK2, U2AF1, and SH2B3 [2].

Most Commonly Altered Genes in Systemic Mastocytosis with an Associated Hematological Neoplasm (SM-AHN)

TET2 Nonsense, TET2 Mutation, KIT Mutation, KIT Exon 17 Mutation, and KIT D816V are the most common alterations in systemic mastocytosis with an associated hematological neoplasm (SM-AHN) [2].

Top Alterations in Systemic Mastocytosis with an Associated Hematological Neoplasm (SM-AHN)

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

AKT1 +

AKT2 +

AKT3 +

CRKL +

KIT +

MTOR +

PDGFRA +

PIK3CA +

PIK3CG +

PIK3R1 +

PIK3R2 +

PTEN +

RICTOR +

RPTOR +

TSC1 +

TSC2 +

Disease Details

Synonyms
SM-AHNMD, Systemic Mastocytosis with Associated Clonal Hematological non-Mast-Cell Lineage Disease, SM-AHN, 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 8. 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.