Preliminary study on potential association between MEN1 syndrome and breast cancer.

Congress:

ECR 2019

Poster Number:

C-0838

Type:

Scientific Exhibit

Keywords:

Breast, Oncology, MR, Ultrasound, Mammography, Screening, Experimental investigations, Multidisciplinary cancer care, Genetic defects, Endocrine disorders

Authors:

S. Paolicelli¹, R. Virelli², V. Alberotanza¹, L. Coi¹, P. M. N. Montemurro¹, M. Telegrafo³, A. A. Stabile Ianora¹, M. Moschetta¹; ¹Bari/IT, ²matera/IT, ³TRIGGIANO/IT

DOI:

10.26044/ecr2019/C-0838

DOI-Link:

https://dx.doi.org/10.26044/ecr2019/C-0838

Fig. 1: Main features of MEN Syndrome.

Fig. 2: Telematic questionnaire administered to italian patients affected by MEN 1...

Fig. 3: Telematic questionnaire administered to italian patients affected by MEN 1...

Aims and objectives

Multiple endocrine neoplasia type 1 (MEN1) is caused by germline mutations in the MEN1 tumor-suppressor gene and is typically characterized by parathyroid adenomas, duodenopancreatic neuroendocrine tumors, and pituitary adenomas. Different studies showed the MEN1 gene product, menin, may be a driver of proliferation in sporadic breast tumors through its association with the estrogen receptor alpha. The aim of our study is to research a possible association between the MEN1 syndrome and the onset of breast cancer.

Methods and materials

45 female patients with an established genetic diagnosis of MEN1 syndrome were evaluated. A telematic questionnaire was administered with questions related to the personal and family history of both malignant and benign breast lesions as well as general and specific risk factors for breast cancer. Data were collected and recorded in an electronic database considering the prevalence of breast lesions in this group.

Results

80% (36/45) of the patients had a breast check; 6 patients (mean age 52,6 years) were diagnosed with breast cancer, one of whom was excluded because had also a BRCA1 mutation. Therefore, 5 MEN1 patients with a diagnosis of breast cancer were found (incidence=11%) with a mean age of 55±8 years. No significant statistically difference was found for general and specific risk factors.

Conclusion

Patients with MEN1 syndrome may have a higher relative risk for breast cancer. The increased risk seems to be not related to other known breast cancer risk factors. An intensified breast cancer screening at a relatively young age should be considered in female patients with MEN1.

Personal information

Dr Simona Paolicelli Breast Care Unit Department of Radiology University of Bari Medical School Italy [email protected]

References

1.Menin Links Estrogen Receptor Activation to Histone H3K4 Trimethylation Koen M.A. Dreijerink,1,2 Klaas W. Mulder,1 G. Sebastiaan Winkler,1 Jo W.M. Ho¨ppener,3 Cornelis J.M. Lips,2 and H.Th. Marc Timmers. 2.MEN1-Dependent Breast Cancer: Indication for Early Screening? Results From the Dutch MEN1 Study Group Rachel S. van Leeuwaarde,1 Koen M. Dreijerink,1 Margreet G. Ausems,2 Hanneke J. Beijers,3 Olaf M. Dekkers,4,5 Wouter W. de Herder,6 Anouk N. van der Horst-Schrivers,7 Madeleine L. Drent,8 Peter H. Bisschop,9 Bas Havekes,10 Petra H. M. Peeters,11 Ruud M. Pijnappel,12 Menno R. Vriens,13...