J Korean Surg Soc.  2009 Jun;76(6):388-391. 10.4174/jkss.2009.76.6.388.

Bilateral Metachronous Breast Cancer in Neurofibromatosis Type 1

• Kim SH
• Son WJ
• Sin DJ
• Chang MC

• KMID: 1464956
• DOI: http://doi.org/10.4174/jkss.2009.76.6.388

Abstract

Neurofibromatosis type 1 (NF1) is an autosomal dominant disease, characterized by cafe-au-lait spot, axillary and inguinal freckle, peripheral neurofibroma and pigmented iris hamartoma. The various cancer incidences are increased in the NF1. But NF1 with breast cancer is rare. In this report we present a case of a 46-year-old NF1 female with a bilateral metachronous breast cancer. The patient has no BRCA2 mutation, but there are two unclassified variants in the exon 11 of BRCA1. The possibility of LOH of BRCA1 gene in the cancer tissue cannot be excluded.

Keyword

Neurofibromatosis; Breast cancer

MeSH Terms

Breast
Breast Neoplasms
Cafe-au-Lait Spots
Exons
Female
Genes, BRCA1
Hamartoma
Humans
Incidence
Iris
Melanosis
Middle Aged
Neurofibroma
Neurofibromatoses
Neurofibromatosis 1

Figure

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  Fig. 1 Pedigree of neurofibromatosis type 1. The older sister, father and grandmother are neurofibromatosis type 1. The arrow indicates the patient.

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  Fig. 2 The chest and abdomen of patient. Small nodules less than 1 cm are scattered across the entire skin surface. Café-au-lait spots are shown in the right lower and left lower abdomen.

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  Fig. 3 The direct sequencing result of exon 11 of BRCA1. The left graph was an unclassified variant of 3232A>G, resulted in Glutamic acid to Glycine change at codon 1,038 (E1038G). The right graph was an unclassified variant of 3667A>G, resulted in Lysine to Arginine change at codon 1,183 (K1183R).

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