Appraising Treatment for Gastrointestinal Stromal Tumors of the Wild-Type Mutation in the Setting of NF1: A Case Report

Darshan Gundala; Rachel Hae-Soo Joung; Amy Wells; Ashley Hardy; John Abad; Akhil  Chawla

doi:10.18502/ijhoscr.v19i3.19292

Darshan Gundala Division of Surgical Oncology, Department of Surgery, Northwestern University Feinberg School of Medicine, Chicago, IL, United States
Rachel Hae-Soo Joung Division of Surgical Oncology, Department of Surgery, Northwestern University Feinberg School of Medicine, Chicago, IL, United States
Amy Wells Northwestern Medicine Cancer Centers, Northwestern Medicine Regional Medical Group, Winfield, IL, United States
Ashley Hardy Northwestern Medicine Cancer Centers, Northwestern Medicine Regional Medical Group, Winfield, IL, United States
John Abad Division of Surgical Oncology, Department of Surgery, Northwestern University Feinberg School of Medicine, Chicago, IL, United States
Akhil Chawla Division of Surgical Oncology, Department of Surgery, Northwestern University Feinberg School of Medicine, Chicago, IL, United States

DOI: https://doi.org/10.18502/ijhoscr.v19i3.19292

Keywords: Gastrointestinal stromal tumor; Chemotherapy; Neurofibromatosis (NF1); Next generation sequencing; Pathogenesis

Abstract

Gastrointestinal stromal tumors (GISTs) are rare mesenchymal neoplasms that can occur anywhere in the GI tract, but commonly present in the stomach and small bowel. Here we present a 39-year-old male with a suspected GIST in the setting of type I neurofibromatosis (NF1). Given the history of NF1 and presumable insensitivity to Imatinib, surgical oncology opted for resection of the mass after discussion with the multidisciplinary sarcoma tumor board. Instead of neoadjuvant therapeutic options for wild-type (WT) NF1-related GIST, surgical resection remains the most advantageous treatment. The efficacy of tyrosine kinase inhibition and other chemotherapies tailored for WT GIST is currently untenable and warrants increased clinical trials and exploration of WT pathogenesis concerning NF1 to support Imatinib-sensitive patients.