Objective: To describe the histological and immunohistochemical findings observed when studying a dysplastic cerebellar gangliocytoma observed in a 33-year-old man with a history of Thyroid Cancer. Material and Methods: Radiological images (MRI) and histological and immunohistochemical preparations obtained from the cerebellar tissue were received in our laboratory. Results: A neoplasm constituted by aberrant-looking mature neurons was observed that showed negativity for the immunohistochemical markers of the PTEN protein, expression of the activity of the PTEN gene. Conclusions: Verify the diagnosis of a rare entity, clearly related in scientific publications with Cowden’s Syndrome.
References
[1]
Nosé, V. (2016) Genodermatosis Affecting the Skin and Mucosa of the Head and Neck: Clinicopathologic, Genetic, and Molecular Aspect—PTEN-Hamartoma Tumor Syndrome/Cowden Syndrome. Head and Neck Pathology, 10, 131-138. https://doi.org/10.1007/s12105-016-0708-7
[2]
Monga, E., Gupta, P.K., Munshi, A. and Agarwal, S. (2014) Multiple Hamartoma Syndrome: Clinicoradiological Evaluation and Histopathological Correlation with Brief Review of Literature. Indian Journal of Dermatology, 59, 598-601. https://doi.org/10.4103/0019-5154.143535
[3]
Porto, A.C.S., Roider, E. and Ruzicka, T. (2013) Cowden Syndrome: Report of a Case and Brief Review of Literature. The Journal Brazilian Annals of Dermatology, 88, 52-55. https://doi.org/10.1590/abd1806-4841.20132578
[4]
Wang, W.-C., Hou, T.-C., Kuo, C.-Y. and Lai, Y.-C. (2020) Hints from a Female Patient with Breast Cancer Who Later Presented with Cowden Syndrome. Journal of Breast Cancer, 23, 430-437. https://doi.org/10.4048/jbc.2020.23.e25
[5]
Shuch, B., Ricketts, C.J., Vocke, C.D., Komiya, T., Middelton, L.A., et al. (2013) Germline PTEN Mutation Cowden Syndrome: An Under-Appreciated Form of Hereditary Kidney Cancer, Journal of Urology, 190, 1990-1998. https://doi.org/10.1016/j.juro.2013.06.012
[6]
Brownstein, M.H., Mehregan, A.H., Bikowski, J.B., Lupulescu, A. and Patterson, J.C. (1979) Patterson The dermatopathology of Cowden’s Syndrome. British Journal of Dermatology, 100, 667-673. https://doi.org/10.1111/j.1365-2133.1979.tb08070.x
[7]
Gosein, M.A., Narinesingh, D., Nixon, C.A.C., Goli, S.R., Maharaj, P. and Sinanan, A. (2016) Multi-Organ Benign and Malignant Tumors: Recognizing Cowden Syndrome: A Case Report and Review of the Literature. BMC Research Notes, 9, Article No. 388. https://doi.org/10.1186/s13104-016-2195-z
[8]
Lhermitte, J. and Duclos, P. (1920) Sur un ganglioneurome diffuse du cortex du cervelet. Bulletin de l’Association Francaise pour l’etude du Cancer (Paris), 9, 99-107.
[9]
Cheng, C.-S., Ou, C.-H., Chen, J.-S., Lui, C.-C. and Yeh, L.-R. (2019) Lhermitte-Duclos Disease: A Case Report with Radiologic-Pathologic Correlation. Radiology Case Reports, 14, 734-739. https://doi.org/10.1016/j.radcr.2019.03.020
[10]
Biswas, S.N., Chakraborty, P.P. and Patra, S. (2016) Lhermitte-Duclos Disease. BMJ Case Reports, 2016, bcr2015214235. https://doi.org/10.1136/bcr-2015-214235
[11]
Nowak, D.A. and Trost, H.A. (2002) Lhermitte-Duclos Disease (Dysplastic Cerebellar Gangliocytoma): A Malformation, Hamartoma or Neoplasm? Acta Neurologica Scandinavica, 105, 137-145. https://doi.org/10.1034/j.1600-0404.2002.1r127.x
[12]
Eberhart, C.G., Wiestler, O.D. and Eng, C. (2016) Dysplastic Cerebellar Gangliocytoma (Lhermitte-Duclos Disease). In: Louis, D.N., Otmar, H., Wiesler, O.D. and Cavenee, W.K., Ed., Who Classification of Tumors of the Central Nervous System, International Agence for Research on Cancer Lyon, Lyon, 142-146.
[13]
Ajithkumar, T., Imbulgoda, N., Rees, E., Harris, F., Horan, G., Burke, A., et al. (2019) Uncommon Low-Grade Brain Tumors. Neuro-Oncology, 21, 151-166. https://doi.org/10.1093/neuonc/noy151