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Letters to the Editor

Pigmented ‘black’ cardiac paraganglioma in a patient with a novel germ-line SDHD mutation

^a Day Hospital of Internal Medicine and Hypertension, Department of Clinical Science, University ‘Sapienza’, Rome, Italy
^b Internal Medicine, University of Rome ‘Sapienza’, Rome, Italy

Received 6 August 2008; accepted 14 October 2008.

^_* Corresponding author. Address: Department of Clinical Sciences, University of Rome ‘La Sapienza’, Policlinico ‘Umberto I’, Viale del Policlinico, 155, 00165 Rome, Italy. (Email: claudio.letizia{at}uniroma1.it).

Key Words: Pigmented black cardiac paraganglioma • Succinate dehydrogenase type D • Germ-line mutation

Recently in this journal, Miraldi et al. [1] described a rare case of a 69-year-old woman with a ‘pigmented’ cardiac paraganglioma in a multiple paraganglioma syndrome.

Overall 10–50% of paragangliomas are hereditary and catecholamine-secreting paragangliomas may be associated with different syndromes, such as von Hippel-Lindau disease (VHL), neurofibromatosis type 1 (NF-1), multiple endocrine neoplasia (MEN type 2) and familial paragangliomas (PGL), that are a rare disorder characterized by slow-growing tumors derived from paraganglia tissue and caused by the germ-line mutations of genes encoding subunits of succinate dehydrogenase (SDH) of mitochondrial complex II [2]. In particular, the SDH subunit proteins, succinate dehydrogenase subunit D (SDHD) and SDHB have been associated with the development of familial pheochromocytomas and paragangliomas, and SDHC mutations have been linked to familial head and neck paragangliomas. Virtually all patients with a SDHD gene mutation eventually develop multifocal and extra-adrenal tumors.

The SDH genes are tumor-suppressors and heterozygous germ-line SDH mutation is generally associated with somatic loss of the wild-type allele in the tumor tissue [3]. This SDH gene inactivation induces the selective and complete loss of succinate dehydrogenase activity regardless of the gene mutation whether that gene encodes on anchorage subunit (SDHD) or catalytic subunit (SDHC).

In this patient, we later had the opportunity to perform a genetic evaluation from peripheral blood leukocytes, and we revealed a novel germ-line mutation, as 444–445 ins ATCT codon of gene on heterozygosis of exon 4 of gene for succinate dehydrogenase subunit D.

Thus, we can conclude that this case report represents an unusual cardiac paraganglioma with peculiar features, due to clinical (catecholamine-secreting tumor), histopathological (‘black’) and genetic features (SDHD syndrome), the latter never having been described before.

Footnotes

The authors of the original paper [1] were invited to reply to this Letter to the Editor but they did not respond.

References

1. Miraldi F, Taffon C, Toscano M, Barretta A. Black cardiac paraganglioma in a multiple paraganglioma syndrome. Eur J Cardiothorac Surg 2007;32(6):940-942.[Abstract/Free Full Text]
2. Amar L, Bertherat J, Baudin E, Ajzenberg C, Bressac-de Paillerets B, Chabre O, Chamontin B, Delemer B, Giraud S, Murat A, Niccoli-Sire P, Richard S, Rohmer V, Sadoul JL, Strompf L, Schlumberger M, Bertagna X, Plouin PF, Jeunemaitre X, Gimenez-Roqueplo AP. Genetic testing in pheochromocytoma or functional paraganglioma. J Clin Oncol 2005;23(34):8812-8818.[Abstract/Free Full Text]
3. Manger WM. An overview of pheochromocytoma: history, current concepts, vagaries, and diagnostic challenges. Ann N Y Acad Sci 2006;1073:1-20.[CrossRef][Medline]

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