Diffuse bone and soft tissue angiomatosis with GNAQ mutation.
GNAQ
angiomatosis
bone
soft tissues
Journal
Pathology international
ISSN: 1440-1827
Titre abrégé: Pathol Int
Pays: Australia
ID NLM: 9431380
Informations de publication
Date de publication:
Jul 2020
Jul 2020
Historique:
received:
06
02
2020
revised:
18
03
2020
accepted:
25
03
2020
pubmed:
22
4
2020
medline:
1
5
2021
entrez:
22
4
2020
Statut:
ppublish
Résumé
We describe a unique case of skeletal and extraskeletal angiomatosis complicated by Kasabach-Merritt syndrome. The patient was a 3-year-old boy, who presented with involvement of both femurs and left tibia, as well as with soft tissue lesions of the left thigh. At birth, multiple hemangiomas of the soft tissues of the frontal and parietal scalp had been identified, together with a space-occupying lesion of the lung. Histologically, the skeletal and soft tissue lesions consisted of a proliferation of thin-walled, dilated blood vessels, with an endothelial lining devoid of atypia and exhibiting immunoreactivity for CD31 and CD34, while podoplanin and GLUT1 were negative. Whole exome sequencing performed on samples from the lesion of the femur, the tibia and the skin of the thigh, showed a GNAQ (c.286A>T:p.T96S) variant in all specimens, that was confirmed with digital droplet PCR. This case expands the clinical and pathologic spectrum of vascular proliferations showing similar molecular biology, characterized by GNAQ, GNA11 or GNA14 mutations.
Substances chimiques
GNAQ protein, human
0
GTP-Binding Protein alpha Subunits, Gq-G11
EC 3.6.5.1
Types de publication
Case Reports
Langues
eng
Sous-ensembles de citation
IM
Pagination
452-457Informations de copyright
© 2020 Japanese Society of Pathology and John Wiley & Sons Australia, Ltd.
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