Incidental finding of MEN-1 syndrome during staging and follow-up of breast carcinoma

Autor: Natália Alves, João Coutinho, Ana Catarina Quadros, Bernardo Conde Maria
Rok vydání: 2020
Předmět:
0301 basic medicine
Oncology
Lung Neoplasms
medicine.medical_treatment
Case Report
medicine.disease_cause
0302 clinical medicine
Antineoplastic Combined Chemotherapy Protocols
Medicine
Breast
Pneumonectomy
skin and connective tissue diseases
Multiple endocrine neoplasia
Incidental Findings
Carcinoma
Ductal
Breast

Autosomal dominant trait
General Medicine
Middle Aged
Magnetic Resonance Imaging
Neoadjuvant Therapy
Parathyroid Neoplasms
Parathyroid Hormone
030220 oncology & carcinogenesis
Female
Ultrasonography
Mammary

Breast carcinoma
Mammography
medicine.medical_specialty
Breast surgery
Breast Neoplasms
Genetic Counseling
Carcinoid Tumor
Parathyroid Glands
03 medical and health sciences
breast cancer
Germline mutation
Breast cancer
Proto-Oncogene Proteins
Internal medicine
Multiple Endocrine Neoplasia Type 1
Humans
Tumour suppressor gene
Germ-Line Mutation
Neoplasm Staging
cancer intervention
Parathyroidectomy
business.industry
breast surgery
medicine.disease
030104 developmental biology
Mutation
Radiotherapy
Adjuvant

Tomography
X-Ray Computed

business
Carcinogenesis
Zdroj: BMJ Case Reports
ISSN: 1757-790X
DOI: 10.1136/bcr-2020-238784
Popis: Type 1 multiple endocrine neoplasia (MEN-1) syndrome is an autosomal dominant disease, associated with germline mutations in the MEN-1 tumour suppressor gene (encoding the menin protein). Recent studies, through a better characterisation of the functions of the menin protein, have started to demonstrate how changes in this protein may be related to breast cancer. We present the case of a patient whose diagnosis of MEN-1 syndrome was made during treatment for a breast tumour—this diagnosis was obtained after finding multiple neoplastic lesions that fitted the MEN-1 syndrome spectrum, during the initial staging and subsequent follow-up of a breast tumour. In line with the growing evidence that links MEN-1 syndrome to breast cancer tumorigenesis, this case report highlights the following question: should we start screening this subset of patients earlier for breast cancer?
Databáze: OpenAIRE