Genetic Insights Into Recurrent Granular Cell Tumours in an Adolescent: The Role of Cytology and Next-Generation Sequencing in the Diagnosis of RASopathies.
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Case Report
Rasopathies are a group of genetic disorders that involve abnormal Ras/mitogen-activated protein kinase (RAS/MAPK) pathway signalling, which has a mechanistic approach to defining genetic syndromes and makes them unique. Noonan syndrome, a form of RASopathy, occurs with advanced paternal age and has an autosomal dominant inheritance. It has been suggested that aberrant RAS/MAPK pathway cell signalling may cause multiple benign granular cell tumours. We have described a case of a recurrent multiple benign granular cell tumour in an adolescent child with Noonan syndrome, emphasising the importance of genetic investigations in this subset of patients.
