Infiltrating Ductal Carcinoma of Breast with Coexistent Neurofibroma-A Rare Association

Abstract

Breast cancer accounts for approximately one-quarter of all cancers in females worldwide and 27% of all cancers in developed countries with a western lifestyle [1]. It’s by far, the most frequent cancer among women, with an estimated 1.67 million new cases of breast cancer diagnosed in 2012 [2]. In India, about 145,000 new cases were diagnosed in 2012 and 70,000 deaths were attributed to it. The WHO Working Group has agreed on a more clinical follow-ups and a need of a genetic data for a better understanding of the natural history of these lesions [3]. Neurofibromatosis 1 is one of the most common genetic diseases in humans, presenting with multiple neurofibromas and an increased risk of various benign and malignant tumors, including breast cancer [4]. Neurofibromatosis type I (NF-1) is a complex multisystem autosomal dominant human disorder caused by the mutation of a gene on chromosome 17 which is responsible for production of a protein called neurofibromin. First report of an association between NF1 and breast cancer was published in 1972 [5] and subsequently several clinical cases of NF1 patients with breast cancer have been reported in the literature. Neurofibromatosis type II is a genetic condition which may be inherited or arise spontaneously. It’s caused by mutations in chromosome 22, also called as Merlin gene. The main manifestation of the condition is the development of symmetric, benign brain tumors in the region of the cranial nerve VIII. Schroeder et al. [5] first demonstrated an association between NF-2 and breast cancer [5]. Although only a minority of patients with NF1 develops malignancy as a complication of their disorder, cancer remains an important cause of morbidity and mortality in the disorder [4]. Moreover, oncologists may encounter patients with NF1 in the course of treatment for cancer, and need to be familiar with the diagnosis of the disorder and its clinical features.