open access

Vol 12, No 1 (2016)
Case report
Published online: 2016-05-02
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Breast cancer in a patient with neurofibromatosis type 1 — analysis of the clinical case

Katarzyna Mączka-Piekarz, Joanna Mykała-Cieśla
Oncol Clin Pract 2016;12(1):33-36.

open access

Vol 12, No 1 (2016)
CASE REPORT
Published online: 2016-05-02

Abstract

Neurofibromatosis type 1 (NF1), also called von Recklinghausen’s disease, is an autosomal dominant disorder, which is present in the population with a frequency of approx. 1:3000. One of the problems of medical care for patients with NF1 is a significantly increased risk of developing cancer (including breast cancer) compared to the general population. The NF1 gene product is a negative regulator of the RAS-MAPK pathway. Mutations in this gene may also be associated with some mutations in the BRCA1 gene. The aim of this study is to pay attention to the increased incidence of breast cancer in patients with NF1 and attempt to show the importance of constant oncological supervision in women with neurofibromatosis. The material for the analysis is the medical history of 41-year-old woman with NF1 and breast cancer diagnosed in 2012. In the control mammography performed in January 2012 the presence of atypical structure in the right breast, suspected of being malignant, was revealed. Needle aspiration biopsy indicated the presence of atypical cells. The tumour was removed. Pathological examination confirmed the malignant nature of the structure, and so the breast conserving therapy was extended and the right axillary lymph system was removed. The patient was qualified for adjuvant chemotherapy based on anthracyclines and radiotherapy.
Detection of breast cancer in patients with NF1 can be difficult because skin changes can mask symptoms of the tumour and the patient can treat new changes in the breast as a manifestation of NF1. Therefore, it is recommended to pay constant, increased oncological attention to patients with NF1.

Abstract

Neurofibromatosis type 1 (NF1), also called von Recklinghausen’s disease, is an autosomal dominant disorder, which is present in the population with a frequency of approx. 1:3000. One of the problems of medical care for patients with NF1 is a significantly increased risk of developing cancer (including breast cancer) compared to the general population. The NF1 gene product is a negative regulator of the RAS-MAPK pathway. Mutations in this gene may also be associated with some mutations in the BRCA1 gene. The aim of this study is to pay attention to the increased incidence of breast cancer in patients with NF1 and attempt to show the importance of constant oncological supervision in women with neurofibromatosis. The material for the analysis is the medical history of 41-year-old woman with NF1 and breast cancer diagnosed in 2012. In the control mammography performed in January 2012 the presence of atypical structure in the right breast, suspected of being malignant, was revealed. Needle aspiration biopsy indicated the presence of atypical cells. The tumour was removed. Pathological examination confirmed the malignant nature of the structure, and so the breast conserving therapy was extended and the right axillary lymph system was removed. The patient was qualified for adjuvant chemotherapy based on anthracyclines and radiotherapy.
Detection of breast cancer in patients with NF1 can be difficult because skin changes can mask symptoms of the tumour and the patient can treat new changes in the breast as a manifestation of NF1. Therefore, it is recommended to pay constant, increased oncological attention to patients with NF1.

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Keywords

NF1 gene; neurofibromatosis type 1; von Recklinghausen’s disease; breast cancer; phakomatoses

About this article
Title

Breast cancer in a patient with neurofibromatosis type 1 — analysis of the clinical case

Journal

Oncology in Clinical Practice

Issue

Vol 12, No 1 (2016)

Article type

Case report

Pages

33-36

Published online

2016-05-02

Bibliographic record

Oncol Clin Pract 2016;12(1):33-36.

Keywords

NF1 gene
neurofibromatosis type 1
von Recklinghausen’s disease
breast cancer
phakomatoses

Authors

Katarzyna Mączka-Piekarz
Joanna Mykała-Cieśla

References (15)
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