The Society of Surgical Oncology, inc.
The American Society of Breast Surgeons.
Annals of Surgical Oncology

Log in | Register

Molecular and Genetic Markers in Appendiceal Mucinous Tumors: A Systematic Review

Andrew Stein BS, Erin Strong MD, T. Clark Gamblin MD, MS, MBA, Callisia Clarke MD, Susan Tsai MD, MPH, James Thomas MD, PhD, Ben George MD, Harveshp Mogal MD, MS
Gastrointestinal Oncology
Online First ™ - October , 2019

Abstract

Introduction

The role of somatic mutation profiling in the management of appendiceal mucinous tumors (AMTs) is evolving. Using a systematic review, we identified somatic alterations (SAs) that comprise histopathologic types of AMTs and those associated with aggressive clinical phenotypes.

Methods

MEDLINE/PubMed was searched for studies on AMTs including molecular markers or genomic alterations, published between 1990 and 2018. Studies were grouped under low- and high-grade histological type for primary and metastatic tumors.

Results

Twenty-one studies involving 1099 tumors (primary/metastatic) were identified. Seven studies involving 101 primary low-grade AMTs identified KRAS (76.5%) as the predominant SA. Four studies noted GNAS in 45.2% of 42 low-grade appendiceal mucinous neoplasms, and KRAS was identified in 74.4% of 14 studies with 238 low-grade pseudomyxoma peritonei (PMP). GNAS was noted in 56% of 101 tumors and TP53 was noted in only 9.7% of 31 tumors. Primary high-grade tumors demonstrated lower SAs in KRAS (50.4% of 369 tumors) and GNAS (27.8% of 97 tumors), and higher SAs in TP53 (26.0% of 123 tumors). In high-grade PMP, SAs were noted in KRAS (55.0% of 200 tumors), GNAS (35.0% of 60 tumors), and TP53 (26.3% of 19 tumors). No clear association was noted between SAs and survival.

Conclusions

KRAS and GNAS are frequently altered in low-grade AMTs, while TP53 is frequently altered in high-grade AMTs, with no apparent change in expression between primary and metastatic tumors. Although SAs may provide valuable insights into variability in tumor biology, larger studies utilizing clinically annotated genomic databases from multi-institutional consortiums are needed to improve their identification and clinical applicability.

Add a comment



0 comment(s)

ANNALS ON SOCIAL MEDIA

@AnnSurgOncol 

Join the conversation!

Follow the journal on Twitter and Facebook

Help to expand the reach of the journal to support the research and practice needs of surgical oncologists and their patients.