ABSTRACT
Clinical phenotypes and gene characteristics of a patient diagnosed with Mowat-Wilson syndrome (MWS) with Hirschsprung′s disease (HSCR) and vaginal atresia in the Department of Neonatal Surgery, Beijing Children′s Hospital, Capital Medical University in March 2021 were analyzed retrospectively.The eight-month-old girl was admitted to the hospital with symptoms of constipation for nine days and abdominal distension for two days.Lower digestive tract radiography and rectal mucosa biopsy results suggested HSCR.The child also had specific facial features and motor development delay.Whole exome test showed a de novo heterozygous mutation, ZEB2 gene c. 2761C>T (p.R921*). After laparoscopic-assisted Soave procedure, the child had normal bowel movements, and no surgery-related compli-cations occurred during the follow-up period.The child′s motor development improved after rehabilitation treatment.According to literature review, 2 female cases show similar clinical manifestations to this girl, but the genotypes were different.This patient expands the clinical phenotype of ZEB2 gene pathogenicity.
ABSTRACT
Cholangiocarcinoma is a rarely malignant tumor with poor overall prognosis. Radical surgery is the only strategy to improve the long-term survival of patients with cholangio-carcinoma of early-stage. For most patients with advanced cholangiocarcinoma, systematic treatment has become the main strategy. But the available first-line drugs for the treatment of cholangiocarcinoma are limited and the curative effect is limited. In recent years, immunotherapy strategies such as immune checkpoint inhibitors have achieved encouraging results in a variety of solid tumors by using the host immune system to carry out effective anti-tumor responses. The authors summarize the research advances of immune checkpoint inhibitors in the treatment of cholangiocarcinoma.