A rare presentation of bilateral, synchronous male breast cancer

Abstract

Male breast cancer makes up only 1% of total breast cancer cases in the United States, and less than 0.5% of all cancer diagnoses in men. 1 And, within the category of male breast cancer, the incidence of synchronous bilateral breast lesions is extremely rare, accounting for only 0.5%-2.5% of male breast cancers. [2][3][4] Unfortunately, because of the rarity of male breast cancer, population size serves as limiting factor toward clinical research for identifying major genetic risk factors associated with the development of male breast cancer; accordingly, there are no screening guidelines and treatment modalities for patients even with known genetic mutations. 5The etiology of male breast cancer remains elusive; however, altered estrogen levels-resulting from chromosomal disorders, diet, drug use, and/or one of several possible genetic mutationshave been implicated. 6 Abnormal estrogen-to-androgen ratios are observed in conditions such as Klinefelter syndrome, exogenous testosterone use, obesity, cirrhosis, alcohol consumption, and testicular disease (eg, undescended testis, orchitis, and orchiectomy). 5,7 Alternatively, gene mutations associated with increased risk of development of male breast cancer include germline mutations (BRCA1, BRCA2, CHEK2, PALB2, AR, and PTEN) and somatic mutations (PIK3CA, TP53, and mismatch repair mutations). [5][6][7][8][9] Here, we present a clinical case report of synchronous bilateral breast cancer in a male patient with mutations in both the Neurofibromin 1 (NF1) and checkpoint kinase 2 (CHEK2) genes.CHEK2 mutations have been shown to exert a substantial, 10-fold increase in the risk of males developing breast cancer; however, there have been no reports analyzing its role in the risk of bilateral breast cancer in males to date. 10 Moreover, only five case reports have investigated male breast cancer associated with a known NF1 mutation, none of which dealt with synchronous bilateral breast lesions. 9 | C A S EA 52-year-old man with clinical diagnosis of neurofibromatosis type 1 (NF-1), asthma, renal stones and hyperlipidemia presented with a palpable hard mass in the left nipple area. The patient had a significant family history of cancer, including lung and prostate cancer in his father, a paternal aunt who died from breast cancer around age 60, mesothelioma in his mother, and a maternal first cousin with renal cancer. The patient's father was also diagnosed with NF-1. No other cancers were reported in the family, and no history of supplemental hormonal therapy. The patient claimed to never have used tobacco, but uses alcohol socially. Patient's body mass index (BMI) was at 29.On physical examination, patient was noted to have a left retroareolar mass at the 6 o'clock position, without lymphadenopathy.Physical examination of the right breast was normal. The patient was also noted to have multiple skin neuromas on the arms, chest, and back.A diagnostic mammogram and ultrasound with bilateral breast findings were performed, revealing a left breast mass (2.4 × 2.2 cm) and right b...

Male breast cancer: Report of 2 cases

“…The risk of developing breast cancer in men within a population is about 125 lower when compared to breast cancer in women [4]. The male breast cancer may also appear bilaterally, although it is extremely rare (0,5-2,5% of all MBC) [5].There is a lack of research based on large groups of patients of prospective studies due to the rare occurrence of male breast cancer, hence each study seems to increase the knowledge on this subject matter. The two cases of patients described by us are part of the discussion.…”

“…The risk of developing breast cancer in men within a population is about 125 lower when compared to breast cancer in women [4]. The male breast cancer may also appear bilaterally, although it is extremely rare (0,5-2,5% of all MBC) [5].…”