Intestinal and extraintestinal neoplasms in patients with NTHL1 tumor syndrome: a systematic review.

Germline biallelic pathogenic variants (PVs) in NTHL1 have since 2015 been associated with the autosomal recessive tumor predisposition syndrome: NTHL1 tumor syndrome or NTHL1-associated polyposis. In this systematic review, we aim to systematically investigate the phenotypic and genotypic spectrum of the condition including occurrence of both benign and malignant tumors. The databases PubMed, EMBASE, and Scopus were searched. The search was conducted the 25th of august 2021. We included patients with germline PVs, both heterozygous and homo-/compound heterozygous carriers. Twenty-one papers were selected including 47 patients with biallelic PVs in NTHL1 in 32 families. Twenty-three out of 47 patients (49%) were diagnosed with colorectal cancer (CRC) (mean age: 55, range: 31-73) and 12 out of 22 female patients (55%) were diagnosed with breast cancer (mean age: 49, range: 36-63). Apart from three, all patients who underwent a colonoscopy, had colonic adenomas (93%), and three patients (6%) had duodenal adenomatosis. We also identified 158 heterozygous carriers of germline PVs in NTHL1. Twenty-six out of 68 (38%) heterozygous carriers, who underwent colonoscopy, had colonic polyps or adenomas. Twenty-nine heterozygous carriers (18%) were diagnosed with CRC and 59 (49%) with breast cancer. We observed a high frequency of early onset CRC and breast cancer in patients with NTHL1 tumor syndrome. Subsequently, colorectal, breast, and endometrial cancer screening programs are recommended for NTHL1 biallelic carriers. Trial registry PROSPERO: CRD42021275159.

EUS-guided gastroenterostomy with a lumen apposing self-expandable metallic stent relieves gastric outlet obstruction - a Scandinavian case series.

BACKGROUND: EUS-guided gastroenterostomy (EUS-GE) with lumen-apposing metallic stents (LAMS) in patients with gastric outlet obstruction (GOO) has proven to be an alternative to luminal stenting in the duodenum and surgical gastroenterostomy. In severely ill patients, the method can provide improved quality of life (QoL) and symptom relief by restoration of the luminal passage of fluid and nutrients to the small intestine. AIM: To assess the technical and clinical success and safety of EUS-GE. MATERIAL AND METHODS: A dual center retrospective case series of 33 consecutive patients with GOO due to malignant (n = 28) or non-malignant conditions (n = 5). The patients were treated with EUS-GE using cautery enhanced LAMS. Procedures were performed guided by EUS and fluoroscopy in general anesthesia or conscious sedation. RESULTS: Technical success was achieved in all patients. The median procedure time was 71 min and the median hospital stay was three days. Thirty (91%) patients were able to resume oral nutrition after the procedure. Ten patients (30%) experienced adverse events (AEs), including migration of the stent, bleeding, and infection. Four patients had fatal AEs (12%). All stent-related AEs were handled endoscopically. Five patients (15%) needed re-intervention. The median survival time for patients with malignant obstruction was 8.5 weeks (0.5-76), and 13 patients with obstructing malignancies lived 12 weeks or longer. CONCLUSION: EUS-GE is a minimally invasive and efficient method for restoration of the gastrointestinal passage and may improve palliative care for patients with GOO. The method has potential hazards and should only be offered in expert centers that regularly perform the procedure.