PMID: 28526814May 21, 2017Paper

KRAS and GNAS Co-Mutation in Metastatic Low-Grade Appendiceal Mucinous Neoplasm (LAMN) to the Ovaries: A Practical Role for Next-Generation Sequencing

The American Journal of Case Reports
Daniel R MatsonPaul Weisman

Abstract

BACKGROUND Low-grade appendiceal mucinous neoplasms (LAMNs) are cytologically low-grade tumors of the appendix and are a frequent cause of pseudomyxoma peritonei. They can become a diagnostic challenge when they metastasize to the ovaries, where they may mimic primary ovarian mucinous tumors. CASE REPORT We report the case of a patient with very large bilateral ovarian mucinous tumors and a concurrent minute LAMN incidentally discovered in a grossly normal appendix. A primary ovarian tumor was suspected, but histological analysis of the ovaries suggested an appendiceal origin. Immunohistochemical studies were not informative and a consensus regarding the source of the ovarian tumors could not be reached within our department. Subsequent next-generation sequencing of tumors from the right ovary, left ovary, appendix, and matched normal tissue demonstrated identical somatic point mutations in KRAS and GNAS present in all tumors. The patient was diagnosed with metastatic LAMN and did not receive further treatment. She remains disease-free after 15 months of close observation. CONCLUSIONS Determining the tissue of origin in low-grade mucinous tumors of the ovaries can be challenging when a concurrent LAMN is identified in the appen...Continue Reading

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Citations

Mar 22, 2018·International Journal of Gynecological Cancer : Official Journal of the International Gynecological Cancer Society·Jennifer J MuellerNadeem R Abu-Rustum
Sep 7, 2019·Histopathology·Xiaoyan LiaoNoam Harpaz
Jul 15, 2020·Journal of Gastrointestinal Cancer·Tarun KumarNimisha Agrawal
Jul 8, 2021·Journal of Pathology and Translational Medicine·Dong-Wook KangUNKNOWN Gastrointestinal Pathology Study Group of the Korean Society of Pathologists

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