Epithelioid variant of gastrointestinal stromal tumor harboring PDGFRA mutation and MLH1 gene alteration: A case report.
Amino Acid Substitution
Anoctamin-1
/ immunology
Antineoplastic Agents
/ therapeutic use
Epithelioid Cells
/ pathology
Exons
/ genetics
Female
Gastrointestinal Neoplasms
/ diagnostic imaging
Gastrointestinal Stromal Tumors
/ diagnostic imaging
Gastrointestinal Tract
/ pathology
Humans
Imatinib Mesylate
/ therapeutic use
Middle Aged
MutL Protein Homolog 1
/ genetics
Mutation
Neoplasm Proteins
/ immunology
Proto-Oncogene Proteins c-kit
/ immunology
Receptor, Platelet-Derived Growth Factor alpha
/ genetics
GIST
MLH1
PDGFRA
epithelioid variant
stomach
Journal
Pathology international
ISSN: 1440-1827
Titre abrégé: Pathol Int
Pays: Australia
ID NLM: 9431380
Informations de publication
Date de publication:
Sep 2019
Sep 2019
Historique:
received:
29
03
2019
accepted:
28
05
2019
pubmed:
6
7
2019
medline:
16
5
2020
entrez:
6
7
2019
Statut:
ppublish
Résumé
Gastrointestinal stromal tumors (GISTs) are the most important and common mesenchymal tumors of the gastrointestinal tract, especially in the stomach. GISTs are usually driven by activating mutations in either KIT or PDGFRA genes. It is known that activating gene mutations predicts, to a certain extent, not only the morphology of the tumor cells but also a response to treatment with tyrosine kinase inhibitors. Here, we present a case of an epithelioid variant of GIST harboring PDGFRA and MLH1 gene alterations in the stomach of a 55-year-old Japanese woman. The tumor of 98 mm with multiple cysts showed exophytic growth from the gastric fundus. Histopathologically, it consisted of scattered medium-sized epithelioid tumor cells in a loose myxoid background. Based on c-kit and DOG-1 immunoreactivity and a PDGFRA mutation (p.Trp559_Arg560del), the tumor was diagnosed as an epithelioid variant GIST. Interestingly, it had a gene alteration (p.Met524Ile) in the MLH1 gene of unknown pathogenicity. It was assigned to Group 3a (low risk for malignant behavior). After surgery, the patient has been on imatinib therapy and disease-free for 10 months.
Identifiants
pubmed: 31273885
doi: 10.1111/pin.12830
pmc: PMC8194368
mid: NIHMS1703708
doi:
Substances chimiques
ANO1 protein, human
0
Anoctamin-1
0
Antineoplastic Agents
0
MLH1 protein, human
0
Neoplasm Proteins
0
Imatinib Mesylate
8A1O1M485B
KIT protein, human
EC 2.7.10.1
Proto-Oncogene Proteins c-kit
EC 2.7.10.1
Receptor, Platelet-Derived Growth Factor alpha
EC 2.7.10.1
MutL Protein Homolog 1
EC 3.6.1.3
Types de publication
Case Reports
Langues
eng
Sous-ensembles de citation
IM
Pagination
541-546Subventions
Organisme : Intramural NIH HHS
ID : ZIA BC011427
Pays : United States
Informations de copyright
© 2019 Japanese Society of Pathology and John Wiley & Sons Australia, Ltd.
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