INTRODUCTION: Malignant neoplasia may be sporadic or familial in diverse organs. Pathologists play an important role in the diagnosis of familial cancer syndromes. The aim of this study was to review diagnostic tools available to surgical pathologists as well as to discuss surgical prophylactic procedures. METHODS: Medline search for articles related to hereditary or familial cancer or neoplasia and prophylactic surgery. RESULTS: The most frequent clinical clues for familial syndrome diagnosis are: early age of onset, multiple primary cancers, multiple family members affected by the same or related cancers and multiple affected generations. Histologic types most frequently associated with familial cancers are: ductal carcinoma with high nuclear grade and medullary carcinoma of the breast, high grade serous carcinoma of the ovary, medullary carcinoma of the thyroid and diffuse gastric carcinoma. Prophylactic surgery in asymptomatic individuals from syndromic families include bilateral mastectomy, bilateral oophorectomy, total gastrectomy and total thyroidectomy. CONCLUSION: Surgical pathologists may contribute to the diagnosis of familial cancer syndrome on daily practice improving patients and relatives prognosis through appropriate surveillance and follow-up. Prophylactic surgery indication criteria remain controversial specially for oophorectomy and bilateral mastectomy.
Hereditary cancer; Familial cancer; Pathology; Neoplasia; Prophylactic surgery
