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

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.

Molecular Pathology of Well-Differentiated Pulmonary and Thymic Neuroendocrine Tumors: What Do Pathologists Need to Know?

“…While germline variants in patients with DIPNECH require further studies, the documentation of a common breast carcinoma history and associated germline defects in patients with pulmonary neuroendocrine disease is an interesting pathogenetic association as seen in other neuroendocrine neoplasms [90,94]. More importantly, these findings suggest that the spectrum of germline disease in thoracic neuroendocrine neoplasia is likely underestimated.…”

“…Interestingly, an adult Japanese patient with Notch3-related cerebral autosomal dominant arteriopathy with subcortical infarcts and leucoencephalopathy developed DIPNECH as well as other non-neuroendocrine neoplasms including prostatic adenocarcinoma, renal cell carcinoma, and adenomatoid tumor (epididymis) [93]. In addition, the occurrence of DIPNECH in the setting of multiple epithelial neoplasms of various organs including papillary thyroid carcinoma, breast carcinoma, and carotid body paraganglioma in a patient with pathogenic PALB2 is also of great interest [94].…”