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Bronchial Paraganglioma with SDHB Deficiency

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Abstract

Though most paragangliomas arise as sporadic tumors, the recent advantages in the genetic screening revealed that about 30 % of paragangliomas are linked to hereditary mutations, such as those involving SDH genes. A 22-year-old woman carrying a left main bronchus tumor underwent surgery in our institution. Her past medical history included a GIST without KIT or PDGFRA mutation. The histological examination revealed a nested proliferation of medium-sized cells expressing neuroendocrine markers (chromogranin A and synaptophysin). The neoplastic cells failed to express SDHB gene product. These findings led us to the final diagnosis of bronchial paraganglioma in the setting of Carney-Stratakis syndrome. Bronchial paragangliomas are exceedingly rare tumors with polymorphous clinical presentation, and usually benign clinical course. Though most paragangliomas are sporadic, some tumors are associated with specific hereditary disease, especially those occurring in young patients or in combination with other neoplasms.

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Abbreviations

SDH:

Succinate dehydrogenase

GIST:

Gastrointestinal stromal tumor

CXR:

Chest X-ray

CT:

Computer tomography

PET:

Positron emission tomography

PHEO:

Pheochromocytoma

PGL:

Paraganglioma

CSS:

Carney-Stratakis syndrome

CTr:

Carney triad

HNPGL:

Head and neck paraganglioma

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Authors and Affiliations

  1. Pathology Department, Marie Lannelongue Hospital, 133 Avenue de la Resistance, Le Plessis Robinson, 92350, France

    M. R. Ghigna, P. Dorfmuller & V. Thomas de Montpréville

  2. Thoracic and Vascular Surgery Department, Marie Lannelongue Hospital, 92350, Le Plessis Robinson, France

    A. Crutu & E. Fadel

Authors
  1. M. R. Ghigna
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  2. P. Dorfmuller
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  3. A. Crutu
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  4. E. Fadel
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  5. V. Thomas de Montpréville
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Correspondence to M. R. Ghigna.

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Ghigna, M.R., Dorfmuller, P., Crutu, A. et al. Bronchial Paraganglioma with SDHB Deficiency. Endocr Pathol 27, 332–337 (2016). https://doi.org/10.1007/s12022-016-9422-y

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  • DOI: https://doi.org/10.1007/s12022-016-9422-y

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