Next-Generation Sequencing in the Diagnosis of Metastatic Lesions: Reclassification of a Glioblastoma as an Endometrial Cancer Metastasis to the Brain

The oncologist

article

Shuk On Annie Leung¹  Olivia Foley²  David Chapel³  Annacarolina Da Silva⁴  Marisa Nucci⁴  Michael G. Muto²  Susana Campos⁵ 

[1] Division of Gynecologic Oncology, Department of Obstetrics and Gynecology, McGill University Health Center;Department of Obstetrics and Gynecology, Brigham and Women's Hospital, Harvard Medical School, Dana-Farber Cancer Institute;Department of Pathology, Michigan Medicine, University of Michigan;Women's and Perinatal Pathology, Brigham and Women's Hospital, Harvard Medical School, Dana-Farber Cancer Institute;Department of Medical Oncology, Brigham and Women's Hospital, Harvard Medical School, Dana-Farber Cancer Institute

关键词: Endometrial cancer;    Brain metastases;    KRAS;    PTEN;    PIK3CA;   

DOI  :  10.1002/onco.13927

学科分类：地质学

来源: AlphaMed Press Incorporated

【 摘 要 】

Endometrial cancer is the most common gynecologic cancer in the U.S., but metastasis to the brain is rare, and diagnosis can be challenging. Traditional tools for determining if a tumor is a primary or metastatic lesion include pan-imaging, histopathologic studies, and immunohistochemistry. Molecular testing with next-generation sequencing has been increasingly used to augment these tests. We present a case of a patient who initially presented with a brain lesion diagnosed as glioblastoma on histology and immunohistochemistry, but whose diagnosis was later changed to metastasis from an endometrial primary based on molecular findings. The two tumors shared a common microsatellite instability signature and 51 DNA variants, including oncogenic driver mutations KRAS p.G13D, PIK3CA p.E545A, and PTEN p.I135V and p.K267Rfs*9. This highlights the power of molecular analysis in making the diagnosis in cases of rare metastases. Key Points Brain metastasis from endometrial primary is rare, and histopathological features may be augmented with molecular analysis to aid in diagnosis. Comparison of the molecular makeup of the primary endometrial lesion with the metastatic lesion may reveal high-risk molecular features that may be indicative of metastatic potential.

【 授权许可】

CC BY|CC BY-NC