NOVA MUTAÇÃO DO GENE SDHD EM PACIENTES COM PARAGANGLIOMAS DO CORPO CAROTÍDEO
DOI:
https://doi.org/10.48750/acv.38Keywords:
Paraganglioma, Carotid body tumour, Familial paraganglioma, Mutation, SDHD, Succinate dehydrogenase, SurgeryAbstract
Paragangliomas (PGLs) are neuroendocrine neoplasms that can occur throughout the body wherever there is paraganglia. Representing 0.03% of all tumours, PGLs are extremely rare. Although predominantly benign and amenable to cure by surgical ressection, up to 6% can be malignant. To date, three genes have been identified that are associated with Familial PGLs. All three encode subunits (D, B and C) of the enzyme succinate dehydrogenase complex (SDH), which is part of the Kreb's cycle and the electron transport chain. We report a novel causative frameshift mutation in the subunit D of SDH (SDHD) in a family with Carotid Body Paragangliomas. This finding contributes for extending the known mutational spectrum of SDHD, and to help the genetic counseling of this family. Noteworthy, is now possible to offer to other relatives, still sub-clinical, a predictive test that would eventually aid an early surveillance/intervention for a better prognosis.
Downloads
References
paraganglia". Endocrine Pathology: Differential Diagnosis and
Molecular Advance (Springer ed.). p. 281.
2. Kruger AJ, Walker PJ, Foster WJ, et al. Important observations
made managing carotid body tumours during a 25 year experience.
J Vasc Surg 2010;52:1518e23.
3. Rao AB, Koeller KK, Adair CF. From the archives of the AFIP. Paragangliomas
of the head and neck: radiologic-pathologic correlation.
Radiographics 1999;19:1605e32.
4. Georgiadis GS, Lazarides MK, Tsalkidis A, et al. Carotid body tumor
in a 13-year-old child: Case report and review of the literature. J
Vasc Surg. 2008 Apr. 47(4):874-880. [Medline].
5. Fakhry N, Niccoli-Sire P, Barlier-Seti A, et al. Cervical paragangliomas:
is SDH genetic analysis systematically required? Eur Arch
Otorhinolaryngol 2008;265:557–63.
6. Sajid MS, Hamilton G, Baker DM. A multicenter review of carotid
body tumour management. Eur J Vasc Endovasc Surg. Aug/2007.
34:127-30. [Medline]. [Full Text].
7. Sevilla Garcia MA, Llorente Pendas JL, Rodrigo Tapia JP, et al. [Head
and neck paragangliomas: revision of 89 cases in 73 patients].
Acta Otorrinolaringol Esp. 2007 Mar. 58(3):94-100. [Medline].
8. Baysal BE. Genomic imprinting and environment in hereditary
paraganglioma. Am J Med Genet C Semin Med Genet
2004;129C:85–90.
9. Fruhmann J, Geigl JB, Konstantiniuk P, et al. Paraganglioma of the
Carotid Body: Treatment Strategy and SDH-gene Mutations. Eur J
Vasc Endovasc Surg. May/2013. 45:431-36.
10. Boedeker CC. Paragangliome und Paragangliomsyndrome. Laryngo-
Rhino-Otol 2011;90:S56e82.
11. De Toma G, Nicolanti V, Plocco M, et al. Baroreflex failure syndrome
after bilateral excision of carotid body tumors: an underestimated
problem. J Vasc Surg 2000;31:806e10.
12. Boedeker CC, Neumann HP, Offergeld C, et al. Clinical features of
paraganglioma syndromes. Skull Base 2009;19:17e25.
13. Myssiorek D, Ferlito A, Silver CE, et al. Screening for familial paragangliomas.
Oral Oncol 2008;44:532–7.
