Genetic Insights Into Recurrent Granular Cell Tumours in an Adolescent: The Role of Cytology and Next-Generation Sequencing in the Diagnosis of RASopathies.
Pakesh Baishya, Bifica S Lyngdoh, Thangjam Ruchika Devi, Abhilash Goyal, Sankappa P Sinhasan
Author Information
Pakesh Baishya: Department of Pathology and Laboratory Medicine, All India Institute of Medical Sciences (AIIMS), Guwahati, Assam, India. ORCID
Bifica S Lyngdoh: Department of Pathology and Laboratory Medicine, All India Institute of Medical Sciences (AIIMS), Guwahati, Assam, India.
Thangjam Ruchika Devi: Department of Pathology and Laboratory Medicine, All India Institute of Medical Sciences (AIIMS), Guwahati, Assam, India.
Abhilash Goyal: Department of General Surgery, All India Institute of Medical Sciences (AIIMS), Guwahati, Assam, India.
Sankappa P Sinhasan: Department of Pathology and Laboratory Medicine, All India Institute of Medical Sciences (AIIMS), Guwahati, Assam, India.
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.
K. A. Rauen, “Defining RASopathy,” Disease Models & Mechanisms 15, no. 2 (2022): dmm049344, https://doi.org/10.1242/dmm.049344.
A. Carcavilla, L. Suárez‐Ortega, A. R. Sánchez, et al., “Noonan Syndrome: Genetic and Clinical Update and Treatment Options,” An Pediatrics 93, no. 1 (2020): 61.
D. Neelon, F. Lannan, and J. Childs, Granular Cell Tumor (StatPearls Publishing, 2023).
F. Baldo, A. Fachin, B. Da Re, E. Rubinato, M. Bobbo, and E. Barbi, “New Insights on Noonan syndrome's Clinical Phenotype: A Single Center Retrospective Study,” BMC Pediatrics 22, no. 1 (2022): 734.
D. L. Narayanan, H. Pandey, A. Moirangthem, et al., “Hotspots in PTPN11 Gene Among Indian Children With Noonan Syndrome,” Indian Pediatrics 54, no. 8 (2017): 638–640.
M. C. Digilio, E. Conti, A. Sarkozy, et al., “Grouping of Multiple‐Lentigines/LEOPARD and Noonan Syndromes on the PTPN11 Gene,” American Journal of Human Genetics 71, no. 2 (2002): 389–394.
C. Raveendran, R. Elias, S. Parameswaran, and I. P. Yadev, “Recurrent Primary Cutaneous Granular Cell Tumor of the Neck in an Asian Woman: A Case Report,” International Journal of Surgery Case Reports 106 (2023): 108213.
