Succinate Dehydrogenase Deficient Gastrointestinal Stromal Tumor in a Three Month Old Boy With a Fatal Clinical Course: A Case Report and Review of Literature

Abstract

Background: Succinate dehydrogenase deficient gastrointestinal stromal tumors (SDH-deficient GISTs) which lack KIT or PDGFRA mutations demonstrate unique clinical and pathological features, and respond poorly to standard targeted therapy. We herein present a novel case of SDH-deficient GIST in a three-month-old boy in colon mesentery which is the youngest patient until now. Case presentation: The baby presented with complaints of blood in the stool. CT showed a 6.3×4.6 cm mass in the left lower retroperitoneal. Complete resection of tumor and segmental bowel resection was performed without regional lymphadenectomy. Histologically, tumors are distinctive in their multinodular colon wall involvement with interspersed tracts of colon wall smooth muscle. The tumor was composed mainly of epithelioid cells. Immunohistochemically, the tumor cells were positive for Vim, CD117, PDGFR, while negative for SDHB. Mutational analysis showed a synonymous mutation for SDHB and wild-type for KIT and PDGFRA. Two months after surgery, metastases were found and Imatinib was administered. Unfortunately, the disease continued to progress, the baby died 5 months after surgery. Conclusions: SDH-deficient GISTs comprise a subgroup of a relatively rare tumor type and show a number of clinically and biologically unique features, especially for infants. It is of great importance to developing new therapeutic targets and novel specific drugs.