Coexistence of DIPNECH and carotid body paraganglioma: is it just a coincidence?
Endocrinol Diabetes Metab Case Rep
; 20202020 May 13.
Article
in En
| MEDLINE
| ID: mdl-32408270
ABSTRACT
SUMMARY:
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. LEARNING POINTS The presence of two rare neoplasms in a single person should raise the suspicion of a common etiology. To the best of our knowledge, this is the first case that shows the coexistence of DIPNECH and paraganglioma. The contribution of the PALB2 gene in the etiology of these rare neoplasms is a possibility.
2020; Adrenal; Adult; Biopsy; Breast cancer*; CT scan; Chromogranin A; Cytokeratins*; DIPNECH*; Dyspnoea; Female; Haematoxylin and eosin staining; Histopathology; Immunohistochemistry; Levothyroxine; May; Molecular genetic analysis; Neuroendocrine tumour; New disease or syndrome: presentations/diagnosis/management; Oncology; PET scan; Papillary thyroid cancer; Paraganglioma; Portugal; Pulmonary biopsy*; Resection of tumour; S-100 protein*; Synaptophysin; Thyroxine (T4); Wheezing; White
Full text:
1
Collection:
01-internacional
Database:
MEDLINE
Language:
En
Journal:
Endocrinol Diabetes Metab Case Rep
Year:
2020
Document type:
Article
Affiliation country:
Portugal