Next Generation Sequencing in Vitellointestinal Duct Adenoma: Existence of Adenoma-Carcinoma Sequence or too Early to Predict?
Int J Surg Pathol
; 31(7): 1403-1408, 2023 Oct.
Article
in En
| MEDLINE
| ID: mdl-36803135
ABSTRACT
Patent vitello-intestinal duct with adenoma is rare presentation. We report a case of a 1-month-old boy presenting with intermittent passage of stool and blood from the umbilicus since birth. On local examination polypoidal mass measuring 1×1â
cm was seen protruding from umbilicus with faecal discharge. Ultrasound was performed which revealed a tubular hyperechoic structure, extending from umbilicus to part of small intestine measuring 30 ×30â
mm and clinical diagnosis of patent vitello-intestinal duct was given, exploratory laparotomy, excision with umbilicoplasty done, and send for histopathological examination. On histopathological examination, patent vitello-intestinal duct adenoma was rendered and next generation sequencing (NGS) was performed revealing somatic mutation of KRAS (NM_033360.4; c.38G>A; p.Gly12Asp). To our knowledge, this is the first report of the adenoma in patent vitello-intestinal duct with NGS analysis. This case emphasizes the importance of thorough microscopic examination of resected patent vitello-intestinal duct and mutational analysis of the early lesions.
Key words
Full text:
1
Collection:
01-internacional
Database:
MEDLINE
Main subject:
Vitelline Duct
/
Breast Neoplasms
/
Carcinoma
/
Adenoma
/
Papilloma, Intraductal
Type of study:
Prognostic_studies
/
Risk_factors_studies
Limits:
Humans
/
Infant
/
Male
Language:
En
Journal:
Int J Surg Pathol
Journal subject:
PATOLOGIA
Year:
2023
Document type:
Article
Affiliation country:
India