A surveillance conundrum: a case of 4 distinct primary malignancies in a BRCA-1 mutation carrier.
Women with HBOC syndrome present a unique challenge to the oncology community, as will many genetic cancer syndromes yet to be discovered as genetic testing increases in availability. Issues of management and, most importantly, implication are yet to be elucidated. After a diagnosis of epithelial ovarian carcinoma lifelong follow-up is recommended. Given the high recurrence rate and dismal long term prognosis of advanced epithelial ovarian carcinoma this recommendation is more often than not moot. There are no clear guidelines or recommendations for surveillance designed for women with disease free survival greater than five years. This case presents a unique scenario of a woman with predictable disease that remains unpreventable.
University of Connecticut, Hartford, CT, USA. sricci@resident.uchc.edu
Stephanie
S
Ricci
Aaron
A
Shafer
Stacy
S
Nerenstone
Srini
S
Mandavilli
Joel
J
Sorosky
D000231:Adenocarcinoma, Papillary / Q000235:genetics / Q000473:pathology / Q000601:surgery; D000368:Aged; D001943:Breast Neoplasms / Q000235:genetics / Q000473:pathology / Q000601:surgery; D003110:Colonic Neoplasms / Q000235:genetics / Q000473:pathology / Q000601:surgery; D018284:Cystadenocarcinoma, Serous / Q000235:genetics / Q000473:pathology / Q000601:surgery; D055088:Early Detection of Cancer; D005260:Female; D019398:Genes, BRCA1; D061325:Hereditary Breast and Ovarian Cancer Syndrome / Q000235:genetics / Q000473:pathology*; D006579:Heterozygote; D006801:Humans; D008408:Mastectomy; D009154:Mutation; D010051:Ovarian Neoplasms / Q000235:genetics / Q000473:pathology / Q000601:surgery; D010534:Peritoneal Neoplasms / Q000235:genetics / Q000473:pathology / Q000601:surgery