Juvenile polyposis syndrome might be misdiagnosed as familial adenomatous polyposis: a case report and literature review

Autor: Chen Guang Bai, Hong Li Yan, Xian Hua Gao, Yi Qi Du, Xiao Dong Xu, Juan Li, Wei Zhang, Lian Jie Liu, Zi Ye Zhao
Jazyk: angličtina
Rok vydání: 2020
Předmět:
Adult
Male
Adenoma
medicine.medical_specialty
Dysplasia
Colorectal cancer
Misdiagnosis
Colonoscopy
Case Report
Gastroenterology
digestive system
Familial adenomatous polyposis
03 medical and health sciences
Young Adult
0302 clinical medicine
Neoplastic Syndromes
Hereditary
Internal medicine
otorhinolaryngologic diseases
Medicine
Humans
Juvenile polyposis syndrome
Diagnostic Errors
lcsh:RC799-869
neoplasms
Bone Morphogenetic Protein Receptors
Type I
Germ-Line Mutation
Moderate Dysplasia
Smad4 Protein
medicine.diagnostic_test
business.industry
Juvenile Polyp
Intestinal Polyposis
General Medicine
medicine.disease
digestive system diseases
surgical procedures
operative
Adenomatous Polyposis Coli
030220 oncology & carcinogenesis
030211 gastroenterology & hepatology
lcsh:Diseases of the digestive system. Gastroenterology
business
Zdroj: BMC Gastroenterology, Vol 20, Iss 1, Pp 1-9 (2020)
BMC Gastroenterology
Popis: BackgroundJuvenile polyposis syndrome (JPS) is a rare disorder characterized by the presence of multiple juvenile polyps in the gastrointestinal tract, and germline mutations in SMAD4 or BMPR1A. Due to its rarity and complex clinical manifestation, misdiagnosis often occurs in clinical practice.Case presentationA 42-year-old man with multiple pedunculated colorectal polyps and concomitant rectal adenocarcinoma was admitted to our hospital. His mother had died of colon cancer. He was diagnosed with familial adenomatous polyposis (FAP) and underwent total proctocolectomy and ileal pouch anal anastomosis. Two polyps were selected for pathological examination. One polyp had cystically dilated glands with slight dysplasia. The other polyp displayed severe dysplasia and was diagnosed as adenoma. Three years later, his 21-year-old son underwent a colonoscopy that revealed more than 50 pedunculated colorectal juvenile polyps. Both patients harbored a germline pathogenic mutation inBMPR1A. Endoscopic resection of all polyps was attempted but failed. Finally, the son received endoscopic resection of polyps in the rectum and sigmoid colon, and laparoscopic subtotal colectomy. Ten polyps were selected for pathological examination. All were revealed to be typical juvenile polyps, with cystically dilated glands filled with mucus. Thus, the diagnosis of JPS was confirmed in the son. A review of the literatures revealed that patients with JPS can sometimes have adenomatous change. Most polyps in patients with JPS are benign hamartomatous polyps with no dysplasia. A review of 767 colorectal JPS polyps demonstrated that 8.5% of the polyps contained mild to moderate dysplasia, and only 0.3% had severe dysplasia or cancer. It is difficult to differentiate juvenile polyps with dysplasia from adenoma, which could explain why juvenile polyps have been reported to have adenomatous changes in patients with JPS. Therefore, patients with JPS, especially those with concomitant dysplasia and adenocarcinoma, might be easily diagnosed as FAP in clinical practice.ConclusionsJuvenile polyp with dysplasia is often diagnosed as adenoma, which might lead to the misdiagnosis of JPS as FAP. The differential diagnosis of JPS versus FAP, should be based on comprehensive evaluation of clinical presentation, endoscopic appearance and genetic investigations; not on the presence or absence of adenoma.
Databáze: OpenAIRE
Externí odkaz:
Nepřihlášeným uživatelům se plný text nezobrazuje