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Comparative Lesions Analysis Through a Targeted Sequencing Approach

Comparative Lesions Analysis Through a Targeted Sequencing Approach

Published on: November 5, 2019

Diffuse bone and soft tissue angiomatosis with GNAQ mutation.

Raffaele Gaeta^1,2, Francesca Lessi², Chiara Mazzanti²

¹Department of Translational Research and of New Technologies in Medicine and Surgery, University of Pisa, Pisa, Italy.

Pathology International

|April 22, 2020

Summary

This study details a rare case of Kasabach-Merritt syndrome in a child with skeletal and soft tissue angiomatosis. Genetic analysis revealed a GNAQ mutation, expanding the understanding of vascular proliferation molecular drivers.

Keywords:

GNAQ angiomatosis bone soft tissues

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Area of Science:

Vascular Biology
Genetics
Pediatric Pathology

Background:

Kasabach-Merritt syndrome is a rare condition characterized by hemangiomas and thrombocytopenia.
Skeletal and extraskeletal angiomatosis involves abnormal proliferation of blood vessels in bones and soft tissues.

Observation:

A 3-year-old boy presented with extensive skeletal (femurs, tibia) and soft tissue hemangiomas, along with scalp and lung lesions.
Histopathology showed benign vascular proliferation with CD31 and CD34 positivity.
Genetic analysis identified a GNAQ mutation in all affected tissues.

Findings:

The case demonstrates a unique presentation of combined skeletal and extraskeletal angiomatosis.
The presence of a GNAQ mutation links this vascular proliferation to a specific molecular pathway.
Immunohistochemistry confirmed the vascular nature of the lesions, ruling out malignancy.

Implications:

This case expands the known spectrum of vascular anomalies associated with GNAQ, GNA11, and GNA14 mutations.
Understanding the molecular basis can inform future diagnostic and therapeutic strategies for similar conditions.
Highlights the importance of genetic testing in complex vascular proliferative disorders.