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Annals of Surgical Oncology
Published in: Annals of Surgical Oncology 1/2020

01-01-2020 | Polymerase Chain Reaction | Gastrointestinal Oncology

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

Authors: 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

Published in: Annals of Surgical Oncology | Issue 1/2020

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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.
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Metadata
Title
Molecular and Genetic Markers in Appendiceal Mucinous Tumors: A Systematic Review
Authors
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
Publication date
01-01-2020
Publisher
Springer International Publishing
Published in
Annals of Surgical Oncology / Issue 1/2020
Print ISSN: 1068-9265
Electronic ISSN: 1534-4681
DOI
https://doi.org/10.1245/s10434-019-07879-7

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