SDHA Germline Variants in Adult Patients With SDHA-Mutant Gastrointestinal Stromal Tumor

BackgroundSDH-deficient gastrointestinal stromal tumors (GIST) account for 20–40% of all KIT/PDGFRA-negative GIST and are due to mutations in one of the four SDH-complex subunits, with SDHA mutations as the most frequent. Here we sought to evaluate the presence and prevalence of SDHA variants in the germline lineage in a population of SDHA-deficient GIST.MethodsGermline SDHA status was assessed by Sanger sequencing on a series of 14 patients with gastric SDHA-deficient GIST.ResultsAll patients carried a germline SDHA pathogenic variant, ranging from truncating, missense, or splicing variants. The second hit was the loss of the wild-type allele or an additional somatic mutation. One-third of the patients were over 50 years old. GIST was the only disease presentation in all cases except one, with no personal or familial cancer history. Seven metastatic cases received a multimodal treatment integrating surgery, loco-regional and medical therapy. The mean follow-up time was of 10 years, confirming the indolent clinical course of the disease.ConclusionSDHA germline variants are highly frequent in SDHA-deficient GIST, and the disease may occur also in older adulthood. Genetic testing and surveillance of SDHA-mutation carriers and relatives should be performed.

Giant Fibrothecoma of the Ovary in a Young Patient a Case Report

Fibrothecomas are benign ovarian stromal tumors, they are rare tumors of gonadal stromal cell origin that represent 3-4% of all ovarian tumors. It commonly occurs in post-menopausal women. The clinical presentation is often nonspecific, whereas patients more frequently present with a pelvic mass, metrorrhagia, and pelvic pain. We present a 35-year-old patient, nulli-pregnant, with no personal or family pathological history, who attended a medical consultation for presenting progressive abdominal distention of 6 months of evolution in addition to abdominal pain in the last 2 months type colic which increased during her menstrual periods concomitantly alteration in your defecatory habits. Abdominal ultrasound was performed, finding a solid intrapelvic mass of approximately 14x10x10 cm in diameter of probable left ovarian origin, free fluid in the Douglas space, compression and displacement of intestinal loops and bladder. The patient underwent surgery and an exploratory laparotomy was performed, finding a pelvic tumor adhered to the tube and left ovary, in addition to ascites fluid in the abdominal cavity, complete resection of the tumor, ovary and left salpingue was performed.