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Molecular and Genetic Markers in Appendiceal Mucinous Tumors: A Systematic Review. Ann Surg Oncol 2020 Jan;27(1):85-97

Date

10/05/2019

Pubmed ID

31583543

DOI

10.1245/s10434-019-07879-7

Scopus ID

2-s2.0-85074461946   7 Citations

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.

Author List

Stein A, Strong E, Clark Gamblin T, Clarke C, Tsai S, Thomas J, George B, Mogal H

Authors

Callisia N. Clarke MD Assistant Professor in the Surgery department at Medical College of Wisconsin
Ben George MD Associate Professor in the Medicine department at Medical College of Wisconsin
James P. Thomas MD, PhD Professor in the Medicine department at Medical College of Wisconsin
Susan Tsai MD Associate Professor in the Surgery department at Medical College of Wisconsin




MESH terms used to index this publication - Major topics in bold

Adenocarcinoma, Mucinous
Appendiceal Neoplasms
Biomarkers, Tumor
Genetic Markers
Humans
Mutation
Phenotype
Prognosis