Peutz-Jeghers Syndrome and Breast Cancer Risk

  • Peutz-Jeghers syndrome is a clinical diagnosis and most patients with the syndrome rarely undergo genetic testing:
    • Instead they are managed clinically
  • Affected individuals are recognized by:
    • Pigmented mucocutaneous lesions
1.6.1.item
Clinical diagnosis of Peutz-Jeghers syndrome based on mucocutaneous pigmentation (freckles) apparent on lips.
    • Hamartomatous gastrointestinal polyps
  • STK11 mutations are very rare in hereditary breast cancer families:
    • But de novo mutations can occur:
      • So some patients with Peutz-Jeghers syndrome will have no family history of breast cancer
      • Lifetime cancer risk is estimated at 67% to 85%:
        • With the greatest risk attributable to:
          • Gastrointestinal cancer
          • Pancreatic cancer
      • Lifetime breast cancer risk is estimated at 24% to 32%:
        • Which meets enhanced surveillance guidelines:
          • Breast self-examination:
            • Begin at 18 years of age:
              • Once a month
          • Clinical breast exam:
            • Begin at 18 years of age:
              • Every six months once the diagnosis is made
          • Breast MRI of digital mammography:
            • Begin at 25 years of age:
              • Once a year
    • STK11 is part of a protein complex that senses energy levels in the cell:
      • Enforcing quiescence when energy is scarce:
        • It is not involved in DNA double strand break repair

👉Rodrigo Arrangoiz MS, MD, FACS cirujano oncology y cirujano de mamá de Sociedad Quirúrgica S.C en el America British Cowdray Medical Center en la ciudad de Mexico:

  • Es experto en el manejo del cáncer de mama.

👉Es miembro de la American Society of Breast Surgeons:

Training:

• General surgery:

• Michigan State University:

• 2004 al 2010

• Surgical Oncology / Head and Neck Surgery / Endocrine Surgery:

• Fox Chase Cancer Center (Filadelfia):

• 2010 al 2012

• Masters in Science (Clinical research for health professionals):

• Drexel University (Filadelfia):

• 2010 al 2012

• Surgical Oncology / Head and Neck Surgery / Endocrine Surgery:

• IFHNOS / Memorial Sloan Kettering Cancer Center:

• 2014 al 2016

#Arrangoiz

#Surgeon

#Cirujano

#SurgicalOncologist

#CirujanoOncologo

#BreastSurgeon

#CirujanodeMama

#CancerSurgeon

#CirujanodeCancer

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