Journal of Clinical & Experimental Pathology
Open Access

Abstract

Approximately 4-40% of the male breast cancers have been attributed to various genetic mutations like PTEN, BRCA, AR and CHEK2 gene. Here we present a rare association of male breast cancer with Neurofibromatosis-1 (NF-1) in a 56 year-old white male with a history of NF-1, who discovered a mass in his right breast. Breast imaging showed a right breast mass (6.9×2.0 cm) with enlarged axillary lymph nodes. Biopsy revealed invasive ductal carcinoma. He underwent neoadjuvant chemotherapy with modified radical mastectomy. Gross examination revealed two lesions, one in the center of the breast, posterior to the nipple (2.5 cm), other in the middle of the outer quadrants (1.5 cm). Microscopic examination revealed multifocal invasive ductal adenocarcinoma, Nottingham Grade 3, pathological stage IIA, pT2 (m), pN0. Immunohistochemistry for estrogen (ER) and progesterone (PR) were negative with equivocal HER2 in the smaller nodule. The larger mass in the center was ER+, PR+ with equivocal HER2. HER2 FISH studies showed amplification in both masses. Male breast cancer is rare (<1%) of all breast carcinomas with a mean age of diagnosis between 60-70 years. Literature search showed only 4 male patients who had NF-1 and subsequently developed breast cancer with average age of onset of 52 years. The NF1 mutation could have predisposed these individuals to an early development of breast cancer with high grade and advanced stages. NF-1 is associated with a negative regulation of the RAS signaling pathway, it will be intriguing to find out if novel drugs targeting the Ras pathway can be of use in treatment of this specific subset of breast cancer. There is also increasing evidence that depletion of NF1 protein makes the drug tamoxifen less sensitive and also leads to the resistance in human breast cancer cell lines.

Biography

Snehal Shankar Sonawane has completed her Medical School at Government Medical College Miraj and has done Diplomate of National Board in Pathology from RCSM Government Medical College Kolhapur. She is presently working as Pathology Resident Physician at University of Illinois at Chicago. Her research work is in area of ‘Dry eye disease’ and is published in reputed journals.

Email: snehal@uic.edu