Clinicopathological, immunohistochemical, molecular-genetic and risk profiles of gastrointestinal stromal tumors in a cohort of Sudanese patients

Clinicopathological, immunohistochemical, molecular-genetic and risk profiles of gastrointestinal stromal tumors in a cohort of Sudanese patients

Determining the risk of malignant behaviour and mutational status of gastrointestinal stromal tumours (GISTs) guide the management decision and allow optimal individualized patient treatment. To determine clinicopathological, immunohistochemical (IHC), risk and KIT mutational findings of GISTs in Su...

Full description

Saved in:
Bibliographic Details
Published in:African health sciences Vol. 23; no. 1; pp. 444 - 58
Main Authors: Husain, Nazik Elmalaika, Osman, Ihsan Mohamed, Khalid, Ahmed, Satir, Ali Abdel, Stoehr, Robert, Agaimy, Abbas
Format: Journal Article
Language:English
Published: Uganda Makerere Medical School 01-03-2023
Subjects:
Exons
Female
Gastrointestinal Stromal Tumors - diagnosis
Gastrointestinal Stromal Tumors - genetics
Gastrointestinal Stromal Tumors - pathology
Humans
Male
Mutation
Neoplasm Recurrence, Local
risk assessment
GIST
Imatinib
risk stratification
DOG1
metastasis
KIT
genotyping
malignant behaviour
tumour rupture
Gastrointestinal stromal tumour
Online Access:Get full text
Tags: Add Tag
No Tags, Be the first to tag this record!
Description
Summary:Determining the risk of malignant behaviour and mutational status of gastrointestinal stromal tumours (GISTs) guide the management decision and allow optimal individualized patient treatment. To determine clinicopathological, immunohistochemical (IHC), risk and KIT mutational findings of GISTs in Sudanese patients. Histological slides were reviewed, IHC for DOG-1 and CD117 performed and hotspot KIT mutations examined. The risk group was assigned using combined risk criteria. 21 of the 36 patients (58.3%) were males (mean age, 54.83 ±12.57; range, 26-71). Abdominal pain and mass were the most frequent symptoms. Mean tumor size (±SD) was 11.6(±5.82) cm. Either CD117, DOG1 or both were positive in all cases. Using risk criteria, 33.3% (n=12) were clinically malignant at presentation, 13.9% (n=5) high risk, 16.7% (n=6) intermediate, 27.8% (n=10) low risk and 2.8% (n=1) very low risk. Sixteen of 23 (70%) tested cases had KIT (14 exon 11 and two exon 9) mutations. Six tumors were wild type. Exon 11 deletions (p.I563-L576 del and p.V559-N566delinsD) significantly correlate with disease recurrence (p-value: 0.028). Sudanese patients with GIST tend to present late. Nearly half of them correspond to the malignant/high-risk category. The frequency of KIT mutations (79.31%) is in line with the literature.
Bibliography:ObjectType-Article-1
SourceType-Scholarly Journals-1
ObjectType-Feature-2
content type line 23
ISSN:1680-6905
1729-0503
DOI:10.4314/ahs.v23i1.47