Case of spontaneous regression of carotid body tumor in a SDHD mutant: a discussion on potential mechanisms based on a review of the literature

Abstract

BackgroundHead and neck paragangliomas are tumors associated with the parasympathetic nerve system and typically show an indolent growth pattern. Therefore a conservative management strategy is considered in selected cases.Methods and resultsWe present a case of a female patient who presented in 2003 with bilateral carotid body tumors and a tympanic tumor, associated with a mutation in the succinate dehydrogenase -sub-unit-D (SDHD). She was operated on the right carotid body tumor and the tympanic tumor. Thereafter the follow-up was performed with MR examinations at 2-year intervals. After an initial stable phase, over the last 3 years a spontaneous near-total regression of the contralateral carotid body tumor was observed, with only subtle rest-abnormalities visible in 2011.ConclusionsThe present case underlines the indolent growth pattern of head and neck paragangliomas and for the first time describes a rare manifestation of spontaneous regression of a carotid body tumor. The literature was reviewed to discuss this phenomenon.

Late Local and Distant Recurrence of Apparently Benign Paraganglioma

“…Few reports highlight the spontaneous regression of PPGL. Hammer et al reported the spontaneous disappearance of the left carotid body tumor eight years after the excision of contralateral PGL [ 14 ]. Chang et al and Nakajima et al described spontaneous regression followed by recurrence of retroperitoneal PGL [ 15 , 16 ].…”

“…Chang et al and Nakajima et al described spontaneous regression followed by recurrence of retroperitoneal PGL [ 15 , 16 ]. The possible mechanisms leading to spontaneous regression in these cases include genetic instability (telomerase inhibition), apoptosis, changes in tumor blood supply, loss of growth-promoting factors after excision of large lesions, and hemorrhage followed by resorption [ 14 ].…”

Excision of A Rare Bilateral Malignant Carotid Paraganglioma: What We Have Done and What’s to Do

“…Imaging often reports the presence of lymphadenopathy in those patients and this can be misdiagnosed on imaging as lymphoma or metastatic carcinoma in lymph nodes. In addition, according to some authors paragangliomas should no longer classified as benign [6], since even without metastatic spread, multifocality or progressive disease they can have significant morbidity and mortality, especially in familial forms, due to the presence of a specific gene mutation [7,8]. More important, so is to document the size, location and mutation status of a lesion in fact awareness of the existence of PGLs in unusual locations and the likelihood of multifocal primary neoplasms in patients with germline genetic predisposition to this disease will reduce errors in diagnosis and provide more accurate data collection to allow progress in the understanding of these neoplasms [9,10].…”

Imaging findings of malignant bilateral carotid body tumors: A case report and review of the literature

“…In familial cases, hereditary CBT genes code for subunits B, C or D of succinate dehydrogenase, a mitochondrial enzyme (11). Certain genetic mutations are transmittable to offspring in the familial form of CBT (4,5), and patients with the SDHD gene mutation are more likely to develop head and neck paragangliomas and multifocal tumors, such as bilateral CBTs (18). Among the 31 family members of the present patient, 13 expressed the SDHD gene mutation; however, 9 had developed bilateral CBTs, accounting for 29.0% (9/31) of all family members.…”

“…Familial forms are rarely reported in the literature, and there have been few reports of cases worldwide since the 1930s (4)(5)(6)(7)(8)(9)(10)(11)(12). Due to the presence of a specific gene mutation in familial forms of CBT, multifocal lesions and distant metastases are more likely to occur in familial forms compared with non-familial cases.…”