Browsing by Subject "Paraganglioma"

Now showing 1 - 4 of 4
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    Head and neck paraganglioma in Pacak-Zhuang syndrome
    (Oxford University Press, 2025) Rosenblum, Jared S.; Cole, Yasemin; Dang, Danielle; Lookian, Pashayar P.; Alkaissi, Hussam; Patel, Mayank; Cappadona, Anthony J.; Jha, Abhishek; Edwards, Nancy; Donahue, Danielle R.; Munasinghe, Jeeva; Wang, Herui; Knutsen, Russell H.; Pappo, Alberto S.; Lechan, Ronald M.; Kozel, Beth A.; Smirniotopoulos, James G.; Kim, H. Jeffrey; Vortmeyer, Alexander; Miettinen, Markku; Heiss, John D.; Zhuang, Zhengping; Pacak, Karel; Pathology and Laboratory Medicine, School of Medicine
    Background: Head and neck paragangliomas (HNPGLs) are typically slow-growing, hormonally inactive tumors of parasympathetic paraganglia. Inactivation of prolyl-hydroxylase domain-containing 2 protein causing indirect gain-of-function of hypoxia-inducible factor-2α (HIF-2α), encoded by EPAS1, was recently shown to cause carotid body hyperplasia. We previously described a syndrome with multiple sympathetic paragangliomas caused by direct gain-of-function variants in EPAS1 (Pacak-Zhuang syndrome, PZS) and developed a corresponding mouse model. Methods: We evaluated a cohort of patients with PZS (n = 9) for HNPGL by positron emission tomography, magnetic resonance imaging, and computed tomography and measured carotid body size compared to literature reference values. Resected tumors were evaluated by histologic sectioning and staining. We evaluated the corresponding mouse model at multiple developmental stages (P8 and adult) for lesions of the head and neck by high resolution ex vivo imaging and performed immunohistochemical staining on histologic sections of the identified lesions. Results: hree patients had imaging consistent with HNPGL, one of which warranted resection and was confirmed on histology. Three additional patients had carotid body enlargement (Z-score > 2.0), and 3 had carotid artery malformations. We found that 9 of 10 adult variant mice had carotid body tumors and 6 of 8 had a paraganglioma on the cranio-caval vein, the murine homologue of the superior vena cava; these were also found in 4 of 5 variant mice at post-natal day 8. These tumors and the one resected from a patient were positive for tyrosine hydroxylase, synaptophysin, and chromogranin A. Brown fat in a resected patient tumor carried the EPAS1 pathogenic variant. Conclusions: These findings (1) suggest HNPGL as a feature of PZS and (2) show that these pathogenic variants are sufficient to cause the development of these tumors, which we believe represents a continuous spectrum of disease starting from hyperplasia.
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    Managing the Unmanageable: A Two-Staged Palliative Resection to Control Life-Threatening Duodenal Bleeding Due to Recurrent Paraganglioma
    (International Scientific Information, 2018-04-02) Smucker, Levi Y.; Hardy, Ashley N.; O’Neil, Peter J.; Schwarz, Roderich E.; Surgery, School of Medicine
    BACKGROUND This report presents therapeutic decision-making and management of refractory, life-threatening duodenal bleeding in a young man with recurrent metastatic retroperitoneal paraganglioma. CASE REPORT The patient had been symptom free for 8 years after radioactive MIBG (metaiodobenzylguanidine) therapy. Failure of endoscopic or angiographic bleeding control led to urgent need to evaluate possible endocrine functional status, tumor curability, safety of incomplete resection, intra- and postoperative support needs, and anticipated recovery potential and postoperative function. Aside from these considerations, impact of tumor biology, alternative therapeutic options, current management guidelines, and ethical challenges of resource utilization for such complex palliative operative intervention were reviewed. CONCLUSIONS Based on the observed outcomes after an urgent presentation of an unusual tumor-related complication, palliation-intent therapy was justifiable even if significant treatment-related risks were expected and complex resources were required.
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    Metastatic paraganglioma presenting as ajunctional scotoma
    (Elsevier, 2021-12-31) Khodeiry, Mohamed M.; Lind, John T.; Pasol, Joshua; Lam, Byron L.; Lee, Richard K.; Ophthalmology, School of Medicine
    Purpose: To report a unique case of metastatic paraganglioma presenting as a junctional scotoma. Observations: A 38-year-old Caucasian man with a history of abdominal paraganglioma presented with minimally blurred vision 20/25 visual acuity in the left eye. The patient was found to have a junctional scotoma upon visual field testing. Cranial MRI revealed a large peri-clival mass compressing the pre-chiasmal optic nerves and other loci of metastatic disease. Intracranial masses, including metastases, can present with a relatively intact central acuity and nonspecific visual symptoms. Conclusions and importance: To the best of our knowledge, this is the first report of metastatic paraganglioma causing a junctional scotoma. In cases with junctional scotoma, careful neuro-ophthalmic assessment and imaging are of paramount importance, even in patients with excellent visual acuity.
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    Resection of a Catecholamine-Elaborating Retroperitoneal Paraganglioma Invading the Inferior Vena Cava
    (Hindawi Publishing Corporation, 2014-12-28) Mannina, E. M.; Xiong, Z.; Self, R.; Kandil, E.; Department of Radiation Oncology, IU School of Medicine
    Paragangliomas are rare tumors originating outside of the adrenal medulla which can be associated with catecholamine secretion or mass effect, one of which typically leads to their discovery. The differences between these tumors and traditional intra-adrenal pheochromocytomas are a subject of recent investigations. Standard of care therapy is medical management and surgical resection of the tumor. When tumors are biochemically active, medical optimization of the autonomic nervous system is a critical component to a safe, definitive resection. Tumors arising in the retroperitoneum present technical challenges for the surgeon as they are often large and difficult to access, making an oncologic resection much more difficult. Lastly, these tumors are mostly benign and rarely invade adjacent structures—an operative finding not always predicted by preoperative imaging—which, if present, adds significant complexity and risk to the resection. A case illustrating these challenges in the management of a biochemically active retroperitoneal paraganglioma invading the inferior vena cava follows.