INTRODUCTION: Gastrointestinal stromal tumors (GIST) have been associated with synchronous or metachronous secondary malignancies in up to 43% cases. The occurrence between GIST and hematological malignancies is approximately 7%. Here, we present a case of a GIST mimicking Small Lymphocytic Lymphoma (SLL). CASE DESCRIPTION/METHODS: A 70-year-old male presented with a one-month history of bilateral axillary lymphadenopathy. Physical exam revealed a conglomerate of lymph nodes of both axillary regions. CT of the chest-abdomen-pelvis showed diffuse axillary, mesenteric, retroperitoneal and inguinal lymphadenopathy. In addition, it showed a 40 mm mass in the lesser curvature of the stomach (Figure 1). FNA of the axillary region showed findings consistent with SLL. Upper endoscopy showed a large subepithelial mass in the stomach (Figure 2). Biopsies were taken with cold forceps showing reactive white blood cells, this was suspected to be lymphoma. The patient was diagnosed with Stage IV SLL and started on Ibrutinib. Three months after therapy was started, CT revealed significantly improved on adenopathy but an increase in the size of the gastric mass. A repeat upper endoscopy with endoscopic ultrasound (EUS) showed a hypoechoic, heterogeneous round mass with well-defined borders, originating from muscularis propria layer (Figure 3). Fine needle biopsy (FNB) was performed and showed clusters of neoplastic cells, positive for CD117 and DOG1, negative for CK7, CK20, and CDX2, consistent with a GIST. DISCUSSION: Little is known about the coexistence of GIST and other metachronous tumors of different anatomic location. Several theories have been proposed to explain this link. These theories include pro-oncogenic changes in the tissue microenvironment, carcinogenic effect by chemotherapy and desmoid-type fibromatosis after trauma or surgery. When located in the stomach, GISTs most commonly present as subepithelial lesions. Since mucosal biopsies have a false negative rate of almost 50%, additional evaluation with EUS and EUS guided tissue acquisition is of essential importance. Obtaining core samples by FNB is useful for tissue architecture evaluation and immunohistochemistry assessment of the sample. In this particular case, EUS was not performed initially; instead, mucosal biopsies were obtained leading to a false negative result. This case highlights the rare association between GISTs and other malignancies, as well as, the importance of EUS for the evaluation and accurate diagnosis of different subepithelial lesions.
Read full abstract