Targeted Sequencing of Mixed Neuroendocrine- Non-neuroendocrine Neoplasm of the Gallbladder Suggests a Monoclonal Origin: A Case Report

  • Flora Mae Sta. Ines St. Luke's Medical Center, Global City
  • Anna Louise Anceno St. Luke's Medical Center, Global City
  • Rachelle Arah Salamat St. Luke's Medical Center, Global City
  • Narciso Navarro Jr. St. Luke's Medical Center, Global City
  • Glenda Lyn Pua St. Luke's Medical Center, Global City
  • Jose Jasper Andal St. Luke's Medical Center, Global City
  • Daphne Ang St. Luke's Medical Center, Global City
Keywords: gallbladder, MiNEN, molecular analysis

Abstract

Mixed neuroendocrine-non-neuroendocrine neoplasm (MiNEN) of the gallbladder is a rare tumor that is defined in the World Health Organization (WHO) 2019 digestive system tumor classification as the presence of a neuroendocrine neoplasm admixed with a non-neuroendocrine carcinoma, each component constituting at least 30% of the neoplasm. The exact pathogenesis of MiNENs remains unclear. We present a case of a 74-year-old Filipino woman who presented with nonspecific clinical and radiologic findings and subsequently underwent cholecystectomy. Histopathologic and immunohistochemical evaluation of the gallbladder confirmed the diagnosis of a mixed well-differentiated adenocarcinoma (30%) and large cell neuroendocrine carcinoma (70%). The adenocarcinoma and neuroendocrine carcinoma components were separately microdissected and submitted for targeted 15-gene sequencing using the Illumina Trusight Tumor 15 (TST15) panel. NGS identified a TP53 missense mutation leading to a stop codon in both components. The finding of similar molecular signatures in the two morphologically distinct components supports the hypothesis that MiNEN arises from a common precursor stem cell capable of divergent phenotypic differentiation.

Author Biographies

Flora Mae Sta. Ines, St. Luke's Medical Center, Global City
Institute of Pathology
Anna Louise Anceno, St. Luke's Medical Center, Global City
Institute of Radiology
Rachelle Arah Salamat, St. Luke's Medical Center, Global City
Institute of Pathology
Narciso Navarro Jr., St. Luke's Medical Center, Global City
Institute of Surgery
Glenda Lyn Pua, St. Luke's Medical Center, Global City
Institute of Pathology
Jose Jasper Andal, St. Luke's Medical Center, Global City
Institute of  Pathology
Daphne Ang, St. Luke's Medical Center, Global City
Institute of Pathology

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Published
2019-09-29
How to Cite
Sta. Ines, F. M., Anceno, A. L., Salamat, R. A., Navarro Jr., N., Pua, G. L., Andal, J. J., & Ang, D. (2019). Targeted Sequencing of Mixed Neuroendocrine- Non-neuroendocrine Neoplasm of the Gallbladder Suggests a Monoclonal Origin: A Case Report. Philippine Journal of Pathology, 4(2), 48. Retrieved from https://philippinejournalofpathology.org/index.php/PJP/article/view/149