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Diagnosis and Treatment > Signs and Symptoms

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J Pedro Department of Endocrinology, Diabetes and Metabolism, Centro Hospitalar Universitário de São João, Porto, Portugal
Faculty of Medicine of Universidade do Porto, Porto, Portugal

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F M Cunha Department of Endocrinology, Diabetes and Metabolism, Centro Hospitalar do Tâmega e Sousa, Penafiel, Portugal

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V Neto Department of Pneumology, Centro Hospitalar Universitário de São João, Porto, Portugal

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V Hespanhol Faculty of Medicine of Universidade do Porto, Porto, Portugal
Department of Pneumology, Centro Hospitalar Universitário de São João, Porto, Portugal
Instituto de Investigação e Inovação em Saúde, Universidade do Porto, Porto, Portugal

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D F Martins Faculty of Medicine of Universidade do Porto, Porto, Portugal
Department of Pathology, Centro Hospitalar Universitário de São João, Porto, Portugal

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S Guimarães Department of Pathology, Centro Hospitalar Universitário de São João, Porto, Portugal

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A Varela Department of Endocrinology, Diabetes and Metabolism, Centro Hospitalar Universitário de São João, Porto, Portugal
Faculty of Medicine of Universidade do Porto, Porto, Portugal
Instituto de Investigação e Inovação em Saúde, Universidade do Porto, Porto, Portugal

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D Carvalho Department of Endocrinology, Diabetes and Metabolism, Centro Hospitalar Universitário de São João, Porto, Portugal
Faculty of Medicine of Universidade do Porto, Porto, Portugal
Instituto de Investigação e Inovação em Saúde, Universidade do Porto, Porto, Portugal

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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.

Taxonomy:
Clinical Overview, Gland/Organ, Adrenal, Topic, Adrenal, Hormone, Thyroxine (T4), Condition/ Syndrome, Neuroendocrine tumour, Papillary thyroid cancer, Paraganglioma, Patient Demographics, Age, Adult, Gender, Female, Ethnicity, White, Country of Treatment, Portugal, Diagnosis and Treatment, Signs and Symptoms, Dyspnoea, Wheezing, Investigation, Biopsy, Chromogranin A, CT scan, Haematoxylin and eosin staining, Histopathology, Immunohistochemistry, Molecular genetic analysis, PET scan, Synaptophysin, Intervention, Resection of tumour, Medication, Levothyroxine, Related Disciplines, Oncology, Publication Details, Case Report Type, New disease or syndrome: presentations/diagnosis/management
DOI:
https://doi.org/10.1530/EDM-19-0141
Volume/Issue:
Volume 2020: Issue 1
Open access