Journal List > J Korean Surg Soc > v.76(6) > 1010974

TOOLS
Kim, Son, Sin, and Chang: Bilateral Metachronous Breast Cancer in Neurofibromatosis Type 1
Case Report
Journal of the Korean Surgical Society

Journal of the Korean Surgical Society 2009; 76(6): 388-391.

Published online: 2 June 2009

DOI: https://doi.org/10.4174/jkss.2009.76.6.388

Bilateral Metachronous Breast Cancer in Neurofibromatosis Type 1

Sun Ho Kim, M.D., Won Jun Son, M.D., Dong Jun Sin, M.D., Myung-Chul Chang, M.D.

Department of Surgery, Dankook University College of Medicine, Cheonan, Korea.

Corresponding author (changmc@dankook.ac.kr)

Received 7 October 2008       Accepted 24 November 2008

Copyright © 2009 The Korean Surgical Society

Abstract

Neurofibromatosis type 1 (NF1) is an autosomal dominant disease, characterized by café-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.

Keywords: Neurofibromatosis, Breast cancer

Figures and Tables

jkss-76-388-g001
Fig. 1
Pedigree of neurofibromatosis type 1. The older sister, father and grandmother are neurofibromatosis type 1. The arrow indicates the patient.

Download Figure

jkss-76-388-g002
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.

Download Figure

jkss-76-388-g003
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).

Download Figure

References

1. Kim BG, Kim JJ, Cho JS, Park UC. Malignant metachronous cancers (breast cancer, small bowel leiomyosarcoma) associated with von Recklinghausen disease (NF 1). J Korean Surg Soc. 1999. 56:300–305.
2. Lee HJ, Chun YS, Lee NJ, Lee HS, Kim TH, Yoon HK, et al. Breast cancer in three women associated with von Recklinghausen's disease. J Korean Surg Soc. 2008. 74:217–221.
3. Sorensen SA, Mulvihill JJ, Nielsen A. Long-term follow-up of von Recklinghausen neurofibromatosis. Survival and malignant neoplasms. N Engl J Med. 1986. 314:1010–1015.
4. Brasfield RD, Das Gupta TK. Von Recklinghausen's disease: a clinicopathological study. Ann Surg. 1972. 175:86–104.
5. Rasmussen SA, Yang Q, Friedman JM. Mortality in neurofibromatosis 1: an analysis using U.S. death certificates. Am J Hum Genet. 2001. 68:1110–1118.
6. Nakamura M, Tangoku A, Kusanagi H, Oka M, Suzuki T. Breast cancer associated with Recklinghausen's disease: report of a case. Nippon Geka Hokan. 1998. 67:3–9.
7. Yaegashi S, Sachse R, Ohuchi N, Mori S, Sekiya T. Low incidence of a nucleotide sequence alteration of the neurofibromatosis 2 gene in human breast cancers. Jpn J Cancer Res. 1995. 86:929–933.
8. Ogata H, Sato H, Takatsuka J, De Luca LM. Human breast cancer MDA-MB-231 cells fail to express the neurofibromin protein, lack its type I mRNA isoform and show accumulation of P-MAPK and activated Ras. Cancer Lett. 2001. 172:159–164.
9. Guran S, Safali M. A case of neurofibromatosis and breast cancer: loss of heterozygosity of NF1 in breast cancer. Cancer Genet Cytogenet. 2005. 156:86–88.
10. Ceccaroni M, Genuardi M, Legge F, Lucci-Cordisco E, Carrara S, D'Amico F, et al. BRCA1-related malignancies in a family presenting with von Recklinghausen's disease. Gynecol Oncol. 2002. 86:375–378.
TOOLS
Similar articles