Coexistence of DIPNECH and carotid body paraganglioma: is it just a coincidence?

• Type: Article in International Scientific Journal
• Date: 2020

Authors

Pedro, J (Author) Other; Cunha, FM (Author) Other; Neto, V (Author) Other; Hespanhol, V (Author) Other; Martins, DF (Author) Other; Guimaraes, S (Author) Other; Varela, A (Author) Other; Carvalho, Davide (Author) FMUP

Journal

Title: Endocrinology, Diabetes and Metabolism Case Reports

Vol. 2020

Pages: 1-5

Publisher: BioScientifica Ltd.

Indexing

ISI Web of Knowledge - 1 Citation

Scopus - 1 Citation

Other information

Authenticus ID: P-00S-5G5

DOI: 10.1530/edm-19-0141

Abstract (EN): We describe the case of a 56 year-old woman with the almost simultaneous appearance of diffuse idiopathic pulmonary neuroendocrine cell hyperplasia (DIPNECH) and a carotid body paraganglioma. Of interest, 6 years earlier, the patient underwent total thyroidectomy due to papillary thyroid carcinoma and, in the meantime, she was submitted to mastectomy to treat an invasive ductal carcinoma of the breast. In order to explain these lesions, an extensive genetic study was performed. Results showed positivity for the presence of the tumor suppressor gene PALB2, whose presence had already been detected in a niece with breast cancer. The patient underwent different procedures to treat the lesions and currently she is symptom-free over 2 years of follow-up.

Language: English

Type (Professor's evaluation): Scientific

No. of pages: 5