50-year-old Shilpa struggled with persistent orthopedic issues for quite some time, that caused her considerable discomfort and distress. Despite seeking various treatments, her symptoms continued unabated. In a bid to find relief, Shilpa consulted an orthopedic specialist at Star Hospitals, Financial District. What unfolded next was beyond her expectations.
Concerned by the persistence of her symptoms, Shilpa's orthopedic doctor sought the opinion of cancer specialists to explore potential underlying causes, including the possibility of cancer. To her alarm, the diagnosis revealed a very rare form of cancer known as Multiple Endocrine Neoplasia Type 2 (MEN 2) Syndrome.
MEN 2 Syndrome is a rare genetic disorder characterized by the development of tumors in certain endocrine glands, caused by mutations in the RET gene, which plays a crucial role in cell growth and division. This syndrome involves cancer affecting multiple organs, sending ripples of concern through Shilpa and her family. MEN 2 Syndrome is exceedingly uncommon, affecting an estimated 1 in 2.1 million people, and oncologists seldom encounter such cases in their careers. Due to its hereditary nature, families with a history of MEN 2 are at higher risk.
"In oncology, the hereditary aspect of MEN 2 Syndrome is particularly alarming. A positive RET gene test confirmed hereditary cancer in Shilpa’s case, urging her entire family to undergo genetic testing. Vigilant genetic screening is crucial to assess the risk of this formidable disease," stated Dr. Vipin Goel, Director of Surgical Oncology at Star Cancer Centre, Star Hospitals, Financial District.
The implications are clear: MEN 2 Syndrome can affect multiple family members. It is imperative for families with a history of this syndrome to prioritize genetic testing and screenings to detect any potential risks early. MEN 2 Syndrome is complex, with specific traits and consequences. Understanding its foundation, diverse clinical manifestations, and effects on those it impacts is vital for prompt diagnosis, appropriate care, and effective genetic counseling.
By sharing Shilpa’s story, we aim to raise awareness of this uncommon cancer and emphasize the importance of proactive measures such as genetic testing. Through knowledge and vigilance, we can empower individuals and families to confront MEN 2 Syndrome head-on, ensuring timely intervention and support for those affected