Balkan Journal of Medical Genetics

PHENOTYPIC VARIABILITY OF COWDEN SYNDROME WITHIN A SINGLE FAMILY: IMPACT ON DIAGNOSIS, MANAGEMENT AND GENETIC COUNSELLING
Ilic N1, Mitrovic N2, Radeta R3, Krasić S4,5, Vukomanović V4,5, Samardzija G2, Vasic M6, Vlahovic A5,6, Sarajlija A1,5
*Corresponding Author: *Corresponding Author: Ass. Prof. Dr. Adrijan Sarajlija MD, PhD, Clinical Genetics Outpatient Clinic, Mother and Child Health Care Institute “Dr Vukan Čupić”, Radoja Dakića 6-8, 11070 Novi Beograd, Serbia; University of Belgrade, Faculty of Medicine, Belgrade, Serbia; e-mail: adrijans2004@yahoo.com
page: 95

CONCLUSION

This familial case of CS exemplifies the complex interplay of genetic factors, phenotypic variability, and clinical vigilance required in managing PTEN hamartoma tumor syndrome (PHTS). Beyond confirming a pathogenic PTEN variant in multiple family members, it illustrates the broader implications of integrating genetic diagnostics into routine clinical practice. The diverse presentations within this family, ranging from benign soft tissue tumors to vascular anomalies, highlight the unpredictable clinical evolution of CS, necessity of personalized management strategies and flexibility needed in genetic counselling. Importantly, this case emphasizes the value of early identification and interdisciplinary collaboration in the management of a long-term risks associated with CS. As the understanding of PTEN-related pathways evolves, the potential for targeted therapies continues to grow, offering opportunities not only to address tumor progression but also to enhance the quality of life for affected individuals and their families.

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