Follow-up of tissue genomics in BRCA1/2 carriers who underwent prophylactic surgeries.

PURPOSE: The genomic status of non-malignant tissues from carriers of pathogenic germline BRCA1/2 (gBRCA1/2) variants may reveal information towards individualized prophylaxis. We performed spatiotemporal tissue genotype comparisons in a real-life cohort of gBRCA1/2 carriers of Greek origin, who underwent multiple risk-reducing/prophylactic surgeries at various time points. METHODS: Fifty-three women (median age 36 years) within cancer families were observed for up to 37.5 years; 43 were cancer carriers and 10 were healthy carriers. Histology review and genotyping were performed for 187 paraffin tissues (average: 3.5 per carrier) including 46 carcinomas (40 breast) and 141 non-malignant breast and gynecological samples. RESULTS: High allelic imbalance (AI) and somatic pathogenic TP53 variants were present in cancer carriers only (p values < 0.0001). High AI was associated with gBRCA1/2 indels (p < 0.0001) and gBRCA2 alterations (p = 0.0109). Somatic (pathogenic) variants were infrequently shared between non-malignant tissues and matched carcinomas. Aberrations of gBRCA1 variant heterozygosity were noticed in tissues from cancer carriers only (13/43, 30.2%). These pertained to classic LOH (neoplastic lesions in 9/43 carriers, 20.9%) and under-representation of the germline variants (5 samples, 4 non-malignant, all in the breast). Both aberrations coexisted in matched samples in one case. Over time, germline variant heterozygosity prevailed in non-malignant tissues; intra-carrier genomic alterations were aggravated (21.1%), ameliorated (26.3%) or remained stable. CONCLUSION: This real-life case study supports the need to address tissue genotypes from prophylactic surgeries in combination with polygenic scores towards personalized prophylaxis. To this end, knowing the traditionally classified pathogenic potential of a gBRCA1/2 variant may not be enough.

Giant GIST of the small intestine in a young man.

Gastrointestinal stromal tumors (GISTs) represent a rare group of neoplasms of the digestive tract deriving from the mesenchyme. Giant GISTs (over 10 cm in diameter) represent only 20 % of all cases and are associated with a high risk of malignancy. We present the case of a giant GIST of the jejunum successfully treated by surgical resection and adjuvant therapy with imatinib.

Primary retroperitoneal echinococcal cyst.

A 74-year-old man was admitted with right flank pain and discomfort lasting for 2 months. CT scanning revealed a large retroperitoneal cystic mass. There were no cysts elsewhere. Serological testing revealed hydatid disease. Preoperatively he was treated by Albendazole 400 mg for 1 month and then underwent laparotomy. The entire mass was excised en bloc and intact and right hemicolectomy was simultaneously performed for excision of the adhered ascending colon. He recovered uneventfully and was discharged on the eighth day, Albendazole was given and follow-up visits were arranged for every 6 months. Total cystectomy in case of active echinococcal cysts remains the treatment of choice.

Pedunculated cecal lipoma causing colo-colonic intussusception: a rare case report.

Colonic lipomas are uncommon nonepithelial neoplasms that are typically sessile, asymptomatic and incidentally found during endoscopy, surgery, or autopsy. We present a very rare case of a 34-year-old female patient with symptomatic pedunculated cecal lipoma causing intermittent colo-colonic intussusception. Despite adequate imaging studies, definite preoperative diagnosis was not established and the patient underwent exploratory laparotomy. Intraoperatively, intussusception of the cecum into the ascending colon was found and right hemicolectomy was performed. Macroscopic assessment of the resected specimen showed the presence of a giant cecal pedunculated polypoid tumor with features of lipoma, causing intussusception. Histopathological examination confirmed the diagnosis of pedunculated cecal lipoma.