Overview

NCI Definition: An insidious, locally aggressive, poorly circumscribed neoplasm arising from the deep soft tissues. It is characterized by the presence of elongated spindle-shaped fibroblasts, collagenous stroma formation, and an infiltrative growth pattern. It lacks metastatic potential. [1]

Desmoid-type fibromatosiss most frequently harbor alterations in CTNNB1 and APC [2].

Most Commonly Altered Genes in Desmoid-Type Fibromatosis

CTNNB1 Mutation, CTNNB1 T41A, CTNNB1 S45P, CTNNB1 S45F, and APC Mutation are the most common alterations in desmoid-type fibromatosis [2].

Top Alterations in Desmoid-Type Fibromatosis

Significant Genes in Desmoid-Type Fibromatosis

AKT1 +

AKT2 +

AKT3 +

CRKL +

EGFR +

ERBB2 +

IRS2 +

KIT +

MET +

MLH1 +

MLH3 +

MSH2 +

MSH3 +

MSH6 +

MTOR +

PDGFRA +

PIK3CA +

PIK3CG +

PIK3R1 +

PIK3R2 +

PMS1 +

PMS2 +

PTEN +

RICTOR +

RNF43 +

RPTOR +

TSC1 +

TSC2 +

Disease Details

Synonyms
Aggressive Fibromatosis, Deep Fibromatosis/Desmoid Tumor, Desmoid Tumor, Deep Fibromatosis, desmoid tumor, Desmoid Fibromatosis
Parent(s)
Intermediate Soft Tissue Tumor
OncoTree Name
Desmoid/Aggressive Fibromatosis
OncoTree Code
DES

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.