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

• Published in: Endocrinology, diabetes & metabolism case reports Vol. 2020; no. 1; pp. 1 - 5
• Main Authors: Pedro, J, Cunha, F M, Neto, V, Hespanhol, V, Martins, D F, Guimarães, S, Varela, A, Carvalho, D
• Format: Journal Article
• Language: English
• Published: England Bioscientifica Ltd 13-05-2020; Bioscientifica
• Subjects: Adrenal; Adult; Biopsy; Breast cancer; Chromogranin A; CT scan; Cytokeratins; DIPNECH; Dyspnoea; Female; Haematoxylin and eosin staining; Histopathology; Immunohistochemistry; Levothyroxine; Molecular genetic analysis; Neuroendocrine tumour; New Disease or Syndrome: Presentations/Diagnosis/Management; Oncology; Papillary thyroid cancer; Paraganglioma; PET scan; Portugal; Pulmonary biopsy; Resection of tumour; S-100 protein; Synaptophysin; Thyroxine (T4); Wheezing; White; Immunohistochemistry; DIPNECH; Thyroxine (T4); Papillary thyroid cancer; May; PET scan; Cytokeratins; Wheezing; Oncology; Portugal; Dyspnoea; Histopathology; S-100 protein; Adult; Female; CT scan; Synaptophysin; Neuroendocrine tumour; Chromogranin A; Haematoxylin and eosin staining; Paraganglioma; Breast cancer; 2020; Adrenal; Levothyroxine; White; Molecular genetic analysis; Resection of tumour; Biopsy; New disease or syndrome: presentations/diagnosis/management; Pulmonary biopsy
• ISSN: 2052-0573; 2052-0573
• DOI: 10.1530/EDM-19-0141

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.