Case Of Spontaneous Regression Of Carotid Body Tumor In A Sdhd Mutant: A Discussion On Potential Mechanisms Based On A Review Of The Literature.
Hammer, S., Jansen, J. C., van der Kleij-Corssmit, E. P., Hes, F. J., & Kruit, M. C. (2012). Case of spontaneous regression of carotid body tumor in a SDHD mutant: a discussion on potential mechanisms based on a review of the literature. World journal of surgical oncology, 10, 218. https://doi.org/10.1186/1477-7819-10-218
View Original Source →Abstract
BACKGROUND: Head 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 RESULTS: We 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. CONCLUSIONS: The 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.
Case Details
Disease Location
Bilateral carotid body tumors
Personal Characteristics
32 year-old, obese, family history of paragangliomas in father and uncle.
Clinical Characteristics
S/s- right side neck swelling and pulsatile tinnitus. The lower cranial nerves were intact and the hearing was normal. Pe: small reddish tumor in the right middle ear, with positive brown’s sign and a tumor in the right neck at the level of the hyoid bone;the patient was all-over obese, cranial nerves normal, germline mutation analysis in DNA from a blood sample demonstrated a mutation in sdhd (p-asp92tyears).MRI including a gadolinium-enhanced 3d time-of-flight mr angiography sequence consistent with carotid body tumors. The right carotid body tumor was surgically resected in 2004, followed by extirpation of the tympanic tumor in 2005. No radiotherapy. Postop:dx of osa, for which she started (cpap) . In 2005 she started thyroid hormones suppletion for hashimoto disease. Between 2005 and 2008, the patient intentionally lost weight from 136 kg to 93 kg, during follow-up the patient regained bodyweight in 2010 to 129 kg. In 2011 she suffered from a transient ischemic attack after which she started statin treatment and therapy with carbaselate calcium and dipyearsidamole.
Remission Characteristics
Follow-up MRI was with 2-year intervals, and showed no evidence of recurrence on the operated sites. Between 2004 and 2008 there were no changes in size and enhancement pattern of the left carotid body tumor and therefore surgical resection was considered unnecessary. Unexpectedly, in 2010, the tumor was significantly smaller, and showed reduced enhancement in the center of the lesion, consistent with necrosis. Follow-up examinations in june 2011 and september 2011 showed nearly complete regression, leaving only minimal rest-abnormalities at the site of the previous tumor.
Treatment & Mechanisms
Proposed Remission Mechanisms
Vascular mechanism could have explained the re- gression in the present case, although we have no sup- porightive biomarkers for this hypothesis.
Clinical Treatment
The right carotid body tumor was surgically resected in 2004, followed by extirpation of the tympanic tumor in 2005. No radiotherapy.
Non-Clinical Treatment
None reported for tumor.
Additional Notes
take a look at column K