Ep 40 Multiple Endocrine Neoplasia (M.E.N.) Pathology | Genetic Puzzles

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Multiple Endocrine Neoplasia is a difficult diagnosis for patients, families, and clinicians.

The vast array of symptoms, affected organs, and complex genetics often mean that it can take years (if not longer) for it to be diagnosed. In addition, the impact for the patient is significant as it is a familial disease that is autosomal dominant with very high penetrance.

These syndromes were only identified around the 1960s. However, clinical suspicions were unable to be confirmed as the molecular/genetic techniques only in its infancy. It is a rare condition but one that is critical to recognise early to ensure we provide the best care and management for patients and their families.

Special Guest
Mark A. Lewis, MD, is director of gastrointestinal oncology at Intermountain Healthcare in Utah.

Specializing in cancers of the gastrointestinal tract and accessory organs, his interests focus on hereditary cancer syndromes and young-onset cancers, shared decision-making, and patient-physician communication.

The death of his father not only took a huge emotional toll on Lewis, but also piqued his intellectual curiosity. Lewis’ paternal uncle and grandfather both died of rare cancer types and then Lewis was diagnosed with a suspicious symptom himself – hypercalcemia, or high levels of calcium – something his father had also experienced.

As Lewis completed his medical training and established his current position as a haematologist/oncologist at Intermountain Healthcare in Utah, his PNETs were serially monitored. After the dominant PNET changed, crossing a threshold of concern, he had surgery and has documented the experience. Lewis had another special person in mind though and says, “I wanted my son, who has inherited MEN1 from me and may one day require pancreatic surgery himself, to have a record of my own operation.”

Quote: “Pancreatic cancer need not be viewed as a death sentence.”

REFERENCE
pancan.org/news/quest-understand-fathers-illness-young-doctor-discovers/

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