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Diffuse bone and soft tissue angiomatosis with GNAQ mutation
Author(s) -
Gaeta Raffaele,
Lessi Francesca,
Mazzanti Chiara,
Modena Martina,
Garaventa Alberto,
Boero Silvio,
Michelis Maria Beatrice,
Capanna Rodolfo,
Aretini Paolo,
Franchi Alessandro
Publication year - 2020
Publication title -
pathology international
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.73
H-Index - 74
eISSN - 1440-1827
pISSN - 1320-5463
DOI - 10.1111/pin.12933
Subject(s) - gnaq , pathology , soft tissue , angiomatosis , medicine , cd31 , anatomy , lesion , cd34 , biology , immunohistochemistry , mutation , biochemistry , genetics , stem cell , gene
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.