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

  • Gastrointestinal Oncology
  • Published:
Annals of Surgical Oncology Aims and scope Submit manuscript

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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Acknowledgement

This work was supported by the Sebastian Raclaw Abdominal Cancer Fund at the Medical College of Wisconsin.

Disclosures

Andrew Stein, Erin Strong, T. Clark Gamblin, Callisia Clarke, Susan Tsai, James Thomas, Ben George, and Harveshp Mogal have no disclosures to declare.

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Authors and Affiliations

  1. Department of Surgery, Division of Surgical Oncology, Medical College of Wisconsin, Milwaukee, WI, USA

    Andrew Stein BS, Erin Strong MD, T. Clark Gamblin MD, MS, MBA, Callisia Clarke MD, Susan Tsai MD, MPH & Harveshp Mogal MD, MS

  2. Department of Medicine, Division of Hematology/Oncology, Medical College of Wisconsin, Milwaukee, WI, USA

    James Thomas MD, PhD & Ben George MD

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  1. Andrew Stein BS
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Correspondence to Harveshp Mogal MD, MS.

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Stein, A., Strong, E., Clark Gamblin, T. et al. Molecular and Genetic Markers in Appendiceal Mucinous Tumors: A Systematic Review. Ann Surg Oncol 27, 85–97 (2020). https://doi.org/10.1245/s10434-019-07879-7

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  • DOI: https://doi.org/10.1245/s10434-019-07879-7

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