Indian Journal of Endocrine Surgery and Research

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VOLUME 17 , ISSUE 1 ( January-June, 2022 ) > List of Articles

CASE REPORT

Multiple Paragangliomas with Novel Mutation: A Rare Entity

Jnaneshwari Jayaram, Anita Dhar, Suneha Kumari, Kanika Sharma, Hemant Sachani, Shamim Ahmed Shamim, Mehar Chand Sharma, Anurag Srivastava

Keywords : Carotid body tumor, Novel mutation, Paraganglioma, Succinate dehydrogenase

Citation Information : Jayaram J, Dhar A, Kumari S, Sharma K, Sachani H, Shamim SA, Sharma MC, Srivastava A. Multiple Paragangliomas with Novel Mutation: A Rare Entity. 2022; 17 (1):17-20.

DOI: 10.5005/jp-journals-10088-11182

License: CC BY-NC 4.0

Published Online: 28-07-2022

Copyright Statement:  Copyright © 2022; The Author(s).


Abstract

Head and neck paragangliomas (HNPGLs) are rare, rarely functional tumors known to have a genetic predisposition. Carotid body tumors (CBT) are the most common HNPGLs followed by jugular bulb tumors, vagus nerve, and tympanic plexus. The prevertebral region is not the known area for these tumors as seen in our case making it a rare case. Mutations in SDH-D linked genes are commonly associated with multiple HNPGLs. SDH-D mutations with single-gene deletion are rare as seen in the present case. Bilateral carotid body tumors need to be managed in a staged manner. Patients with HNPGLs need annual clinical, hormonal, and radiological, surveillance for early diagnosis and management. First-degree relatives, especially males, need surveillance as SDH-D mutations exhibit maternal imprinting. We describe here the management of a middle-aged male who came with neck swelling on evaluation and was found to have nonfunctional bilateral carotid body tumors, mediastinal, and a rare prevertebral tiny lesion.


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  1. DeLellis RA, Lloyd RV, Heitz PU, et al. Pathology and genetics of tumours of the endocrine organs. 2004.
  2. Van Duinen N, Steenvoorden D, Kema IP, et al. Increased urinary excretion of 3-methoxytyramine in patients with head and neck paragangliomas. J Clin Endocrinol Metab 2010;95(1):209–214. DOI: 10.1210/jc.2009-1632.
  3. Fishbein L, Nathanson KL. Pheochromocytoma and paraganglioma: understanding the complexities of the genetic background. Cancer Genet 2012;205(1–2):1–11. DOI: 10.1016/j.cancergen.2012.01.009.
  4. Bayley JP, Devilee P, Taschner PE. The SDH mutation database: an online resource for succinate dehydrogenase sequence variants involved in pheochromocytoma, paraganglioma and mitochondrial complex II deficiency. BMC Med Genet 2005;6:39. DOI: 10.1186/1471-2350-6-39.
  5. Martin C, Rosenfeld L, McSwain B. Carotid body tumors: a 16-year followup of seven malignant cases. South Med J 1973;66(11):1236–1243. DOI: 10.1097/00007611-197311000-00009.
  6. Shamblin WR, Remine WH, Sheps S, et al. Carotid body tumor (Chemodectoma). Clinicopathologic analysis of ninety cases. Am J Surg 1971;122(6):732–739. DOI: 10.1016/0002-9610(71)90436-3.
  7. Arya S, Rao V, Juvekar S, et al. Carotid body tumors: objective criteria to predict the Shamblin group on MR imaging. Am J Neuroradiol 2008;29(7):1349–1354. DOI: 10.3174/ajnr.A1092.
  8. Obholzer RJ, Hornigold R, Connor S, et al. Classification and management of cervical paragangliomas. Ann R Coll Surg Engl 2011;93(8):596–602. DOI: 10.1308/147870811x13137608455172.
  9. Suárez C, Rodrigo JP, Mendenhall WM, et al. Carotid body paragangliomas: a systematic study on management with surgery and radiotherapy. Eur Arch Otorhinolaryngol 2014;271(1):23–34. DOI: 10.1007/s00405-013-2384-5.
  10. Benn DE, Gimenez-Roqueplo A-P, Reilly JR, et al.; for the International SDH Consortium. Clinical presentation and penetrance of pheochromocytoma/paraganglioma syndromes. J Clin Endocrinol Metab 2006;91(3):827–836. DOI: 10.1210/jc.2005-1862.
  11. Neumann HP, Pawlu C, Peczkowska M, et al. European-American Paraganglioma Study Group. Distinct clinical features of paraganglioma syndromes associated with SDHB and SDHD gene mutations. JAMA 2004;292(8):943–951. DOI: 10.1001/jama.292.8.943.
  12. Young WF, Abboud AL. Editorial: paraganglioma–all in the family. J Clin Endocrinol Metab 2006;91:790–792. DOI: 10.1210/jc.2005-2758.
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