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At least 19 recordsLinked to original sources
PubMed2004

First reported case of esophageal paraganglioma. A review of the literature of gastrointestinal tract paraganglioma including gangliocytic paraganglioma.

Paraganglioma and the variant gangliocytic paraganglioma are rare gastrointestinal tumors. We present the first reported case of an esophageal paraganglioma and a review of the literature. From this review it seems that these tumors can occur at any age and usually present with acute or chronic bleeding with or without abdominal pain. The majority of reported cases originated in the foregut, most commonly the second part of the duodenum. Macroscopically the tumor may be pedunculated, sessile or ulcerated and have been described up to 10 cm in size. There are no reported cases of gut paragangliomas shown to be producing clinically significant amounts of catecholamines. The majority of reported tumors have been benign, only 7% malignant at presentation and all with lymph node metastases. One case developed bone metastases 3 years after excision and another recurred locally. There has been no benefit seen from radiotherapy or chemotherapy to date and it is recommended that all of these tumors are widely excised together with a lymph node resection if possible.

Abdominal Pain↗
PubMed2006

Mutation analysis of SDHB and SDHC: novel germline mutations in sporadic head and neck paraganglioma and familial paraganglioma and/or pheochromocytoma.

BACKGROUND: Germline mutations of the SDHD, SDHB and SDHC genes, encoding three of the four subunits of succinate dehydrogenase, are a major cause of hereditary paraganglioma and pheochromocytoma, and demonstrate that these genes are classic tumor suppressors. Succinate dehydrogenase is a heterotetrameric protein complex and a component of both the Krebs cycle and the mitochondrial respiratory chain (succinate:ubiquinone oxidoreductase or complex II). METHODS: Using conformation sensitive gel electrophoresis (CSGE) and direct DNA sequencing to analyse genomic DNA from peripheral blood lymphocytes, here we describe the mutation analysis of the SDHB and SDHC genes in 37 patients with sporadic (i.e. no known family history) head and neck paraganglioma and five pheochromocytoma and/or paraganglioma families. RESULTS: Two sporadic patients were found to have a SDHB splice site mutation in intron 4, c.423+1G>A, which produces a mis-spliced transcript with a 54 nucleotide deletion, resulting in an 18 amino acid in-frame deletion. A third patient was found to carry the c.214C>T (p.Arg72Cys) missense mutation in exon 4 of SDHC, which is situated in a highly conserved protein motif that constitutes the quinone-binding site of the succinate: ubiquinone oxidoreductase (SQR) complex in E. coli. Together with our previous results, we found 27 germline mutations of SDH genes in 95 cases (28%) of sporadic head and neck paraganglioma. In addition all index patients of five families showing hereditary pheochromocytoma-paraganglioma were found to carry germline mutations of SDHB: four of which were novel, c.343C>T (p.Arg115X), c.141G>A (p.Trp47X), c.281G>A (p.Arg94Lys), and c.653G>C (p.Trp218Ser), and one reported previously, c.136C>T, p.Arg46X. CONCLUSION: In conclusion, these data indicate that germline mutations of SDHB and SDHC play a minor role in sporadic head and neck paraganglioma and further underline the importance of germline SDHB mutations in cases of familial pheochromocytoma-paraganglioma.

Adolescent↗
PubMed2006

Paraganglioma syndrome: SDHB, SDHC, and SDHD mutations in head and neck paragangliomas.

Paraganglioma syndrome includes head and neck paraganglioma and pheochromocytoma, and is classified according to the three susceptibility genes involved, SDHB, SDHC, and SDHD. This study assessed the prevalence of germline mutations in SDHB, SDHC, and SDHD genes in a consecutive population admitted to Padova Hospital consisting of 20 patients with head and neck paraganglioma (HNP). Mutations were identified in the three genes in four affected individuals, three sporadic cases and one with family history of HNP. The novel SDHB p.R242C mutation was identified in a sporadic monolateral carotid body tumor. The SDHC p.Q147X mutation, the first to be described in Italy, was detected in a sporadic monolateral jugulotympanic paraganglioma. The SDHD p.Y114C mutation was identified in two unrelated patients, one familial case of bilateral carotid body tumor and one multiple paraganglioma. SDHB, SDHC, and SDHD molecular screening is important in all HNPs, with or without primary indicators of paraganglioma syndrome, to orient mutation-driven clinical screening for additional HNPs and pheochromocytoma.

Adolescent↗
PubMed2001

A case of primitive floor of the mouth paraganglioma in a child: an embryological theory unifying viscerocranium appended paragangliomas.

BACKGROUND: Paragangliomas are unusual tumors in the head and neck originating from the paraganglia or glomus cells of neural crest origin. METHODS: We describe the first case of a primitive paraganglioma of the floor of the mouth presenting in childhood. RESULTS: Complete surgical removal was performed after embolization of the left lingual artery. There was no evidence of either persistent or recurrent disease 5 years after surgery. The embryologic and anatomic origins of head and neck paragangliomas are reviewed. CONCLUSIONS: An embryologic theory based on the common neural crest origin and migration pathways of both autonomic viscerocranium appended ganglias and paragangliomas is proposed that unifies the topographically heterogeneous group of viscerocranium-appended paragangliomas.

Child↗
PubMed2005

Laryngeal paraganglioma in a patient with multiple head and neck paragangliomas.

Paragangliomas of the larynx are rare neuroendocrine tumors, with fewer than 70 cases reported in the literature. 1 Typically, laryngeal paragangliomas are not found in patients with multicentric or familial paragangliomas. Only 1 case of laryngeal paraganglioma has been reported in a patient with a synchronous lesion elsewhere (carotid body tumor). 2 We report an additional case of a patient with a laryngeal and multiple other paragangliomas.

Head and Neck Neoplasms↗
PubMed2000

[Non-functional renal paraganglioma associated with carotid paraganglioma and appendicular mucocele].

OBJECTIVE: A case of nonfunctional renal paraganglioma associated with appendicular mucocele and metachronic carotid paraganglioma is presented. METHODS/RESULTS: A 68-year-old patient consulted for abdominal pain. Patient evaluation with US, CT and opague enema showed an elongated mass that compromised the cecum and a solid mass in the right kidney. The patient underwent appendectomy and radical right nephrectomy. The anatomopathological findings showed an appendicular mucocele and renal paraganglioma. The postoperative hormone analyses were normal. A carotid paraganglioma was removed 8 months later. CONCLUSIONS: Renal tumors arising from neural crest cells are uncommon. To our knowledge, this is the third case of nonfunctional renal paraganglioma reported in the literature. The associated appendicular mucocele was an incidental finding.

Appendix↗
PubMed1993

Metachronous bilateral nonfunctional intercarotid paraganglioma (carotid body tumor) and functional retroperitoneal paraganglioma: report of a case and review of the literature.

BACKGROUND: The occurrence of an intercarotid paraganglioma and a paraganglioma in an anatomic distribution away from the head and neck in the same patient is rare. We have treated a patient with this combination of tumors and report this unusual case with the purpose of reviewing the paraganglion system. We endeavor to clarify the confusion that exists by use of the terms chemodectoma, glomus tumors, nonchromaffin paragangliomas, and pheochromocytoma and to present a rational nomenclature based on their ontogeny. METHODS: A computer-generated list of articles on this subject was obtained, and all articles relative to this rare combination of tumors were reviewed. RESULTS: We found 31 other cases. Functional intercarotid paragangliomas are extremely rare, with only five cases having been reported. CONCLUSIONS: All hypertensive patients who are found to have an intercarotid paraganglioma should be investigated for a functional tumor. Family members should also be made aware of their probabilities of having these tumors because a familial trend has been documented in certain cases.

Adult↗
PubMedDate not supplied

Giant mitochondria with paracrystalline inclusions in paraganglioma of the urinary bladder: correlation with mitochondrial abnormalities in paragangliomas of other sites.

Mitochondrial abnormalities have received relatively little attention in the ultrastructural evaluation of paragangliomas. Review of the few literature references dealing with this issue, however, reveals that quantitative and qualitative changes of these organelles occur in that context. A bladder paraganglioma is described that was characterized by numerous mitochondria, which in addition displayed giant forms along with matrical paracrystalline inclusions. Upon retrospective review of 12 archival cases of paragangliomas, enlarged and structurally abnormal mitochondria were found in all of them. Although various speculations can be made, the mechanism of formation and the pathophysiologic significance of these abnormal mitochondria remain unknown. From a morphologic diagnostic point of view, however, these abnormalities, which in this case of bladder paraganglioma were also light microscopically evident, can be of significant help in establishing the correct diagnosis.

Aged↗
PubMed1986

Functioning middle mediastinal paraganglioma (phaeochromocytoma) associated with intercarotid paragangliomas.

In three patients with phaeochromocytomas, computed tomography or iodobenzylguanidine scanning gave misleading or negative results. These patients were found to have a functioning middle mediastinal paraganglioma in association with one or two intercarotid paragangliomas. The possibility of this association should be considered in patients with functioning extra-adrenal paragangliomas.

3-Iodobenzylguanidine↗
PubMed1996

[Branchial paraganglioma. A case of carotid paraganglioma and review of the literature].

We report the case of a 58-year-old man hospitalized for generalized seizures. A grade II glioma of the left frontotemporal region was diagnosed on brain CT scan and stereotaxic biopsy results. Radiotherapy was successful in treating this glioma. A glomus tumor of the left carotid was discovered by duplex Doppler examination of the carotid and confirmed on arteriography. Resection was performed to the adventitia. Branchial glomus tumors are rare, often benign tumors. The carotid is a common localization. Surgery is often indicated due to the risk of local invasion. Surgical procedure varies according to the size and localization of the tumor. This case demonstrates that glomus tumor of the carotid can coexist with a frontotemporal glioma.

Biopsy↗
PubMed1993

Octreotide scintigraphy for the detection of paragangliomas.

Paragangliomas have neuroendocrine characteristics. We previously described successful in vivo visualization of various tumors of neuroendocrine origin after injection of the radiolabeled somatostatin analogue octreotide. In this study, we report the results of 111In-octreotide scintigraphy in 34 patients referred because of known paragangliomas or in whom a paraganglioma was suspected and compared the results of octreotide scintigraphy with the outcomes of other imaging techniques used in the diagnosis or follow-up of these patients. Fifty of 53 (94%) known localizations in 25 patients with paragangliomas were visualized. In two patients, three localizations were missed during octreotide scintigraphy. Unexpected additional paraganglioma sites, not detected or not investigated with conventional imaging techniques, were found in 9 of 25 patients (36%) with known paragangliomas. In four of them, the supposed tumor localizations were thereafter also demonstrated with other imaging modalities. In eight of nine patients who were referred because of symptoms consistent with paraganglioma or follow-up after surgical removal of a paraganglioma, neither routine imaging nor octreotide scintigraphy revealed any abnormalities indicative of paraganglioma. We conclude that: (1) virtually all paragangliomas can be visualized using in vivo 111In-octreotide scintigraphy and (2) because conventional imaging is usually limited to the site where a paraganglioma is clinically suspected, octreotide scintigraphy, because of the information it provides on potential tumor sites in the whole body, may be useful in detecting multicentricity or metastases in patients with paraganglioma.

Abdominal Neoplasms↗
PubMed2005

Familial paraganglioma.

Paragangliomas are unusual tumors that are sometimes familial. We treated a family who exhibited multiple head and neck paragangliomas (HNPGs) and pheochromocytomas. The purpose was to determine the clinical characteristics of paragangliomas with familial history and to define a better standardized proceeding in the management of these tumors. Patients diagnosed with head and neck paragangliomas and identified retrospectively through clinical otolaryngology practices were given a medical and family history questionnaire. We studied a family who exhibited familial paragangliomas. This relationship was examined by reviewing the medical records of family members with verified tumors, carrying out neck computed tomography or magnetic resonance imaging on their relatives to look for tumors that had been unrecognized in the past. All patients underwent a complete head and neck examination. The initial evaluation usually included CT and/or MRI. Computed tomography and magnetic resonance imaging contributed additional information about tumor extension. Angiography was performed in every patient with carotid body tumor, with one undergoing therapeutic embolization to reduce the tumor size. Eleven tumors were identified in four patients with a familial history. Familial disease was initially determined by pedigree analysis. Four patients with a median age of 31 years (range: 25-42) underwent surgery. Median follow-up was 5 years (range 2-14); carotid angiography provided essential mainstays for the definite diagnosis. All patients underwent successful surgical resection of the tumor after the appropriate preoperative preparation. There were no perioperative deaths or hemiplegia. Three patients had bilaterality carotid body paragangliomas. One patient had three paragangliomas, and two patients had bilateral carotid body paragangliomas associated with pheochromocytoma. Clinically functioning tumors and malignant tumors were not identified, and none of the patients died after surgery. During follow-up, none of the patients developed recurrence or metastatic disease. The carotid body paraganglioma (CBPG) and glomus vagale manifested as asymptomatic neck masses. The clinical pheochromocytomas typically present with uncontrolled hypertension. In conclusion, paragangliomas are rare, with multicentricity being more common in patients with a familial history. In patients with familial paragangliomas, high-resolution computed tomography and magnetic resonance imaging are recommended for early screening and contributed additional information about the tumor extension and definitive treatment. Early surgery is recommended to minimize major risks.

Adrenal Gland Neoplasms↗
PubMed2004

Laryngeal paraganglioma: an updated critical review.

Laryngeal paragangliomas are rare submucosal lesions that arise from paraganglion cells located in the false vocal fold and subglottic larynx. To date, 76 recognized cases have been reported in the world literature. Symptoms arise when the lesions become large enough to impair function. Supraglottic paragangliomas cause hoarseness and deglutition disorders, whereas subglottic tumors become symptomatic when they obstruct the airway. Evaluation of these tumors includes obtaining a complete history. Familial paragangliomas and hypertension should be sought but are rarely, if ever, associated with laryngeal paragangliomas. MRI can detect these lesions and permit characterization of the vascularity of the lesion. Adding 111In pentetreotide scanning can distinguish neuroendocrine tumors from other submucosal laryngeal lesions, making the preoperative diagnosis clearer and obviating the need for biopsy. The biggest dilemma regarding laryngeal paragangliomas is making the correct pathologic distinction between paraganglioma, typical carcinoid, atypical carcinoid and medullary thyroid cancer. Immunohistochemical markers, supplementing standard histopathologic evaluation, can distinguish paragangliomas from the aforementioned tumors. This distinction is critical as the prognosis for treated paragangliomas is excellent compared to that for other neuroendocrine neoplasms. Almost all alleged malignant paragangliomas of the larynx are in reality atypical carcinoid tumors that have been misdiagnosed. Treatment should always comprise excision. Thyrotomy has the best chance of achieving a sustained cure without damaging phonation or deglutition. Laser excision has been used successfully but there is no great experience with this modality. Surgery is preferable to radiation for paragangliomas in all locations but especially so in the larynx, due to issues such as swelling, airway protection and destruction of cartilage. With increased clinical suspicion and the use of modern imaging techniques, laryngeal paragangliomas should be routinely diagnosed and treated without loss of laryngeal functions.

Age Distribution↗
PubMed2006

Paragangliomas: clinical overview.

Paragangliomas are rare tumors that arise from extra-adrenal paraganglia. The effective diagnosis and management of the paraganglioma patient involves the close collaboration of endocrinologists, endocrine surgeons, anesthesiologists, geneticists, laboratory specialists, radiologists, oncologists, and pathologists. Paragangliomas are diagnosed in the following clinical settings: signs and symptoms related to catecholamine hypersecretion, mass effect symptoms (e.g., with head and neck paragangliomas), incidental finding on imaging, or family screening for hereditary paraganglioma. Paragangliomas that hypersecrete catecholamines may cause signs and symptoms identical to those in patients with hyperfunctioning adrenal pheochromocytoma. When a catecholamine-secreting tumor is suspected in a patient because of paroxysmal symptoms, biochemical documentation of catecholamine and fractionated metanephrine hypersecretion should precede any form of imaging study. Catecholamine-secreting paragangliomas are found where chromaffin tissue is located (e.g., along the para-aortic sympathetic chain, or within the organs of Zuckerkandl at the origin of the inferior mesenteric artery, the wall of the urinary bladder, and the sympathetic chain in the neck or mediastinum). As many as 50% of paragangliomas are hereditary and may be associated with familial paraganglioma, neurofibromatosis Type 1, von Hippel-Lindau disease, the Carney triad, and, rarely, with multiple endocrine neoplasia Type 2. Genetic testing should be considered in all patients with paraganglioma. The treatment of choice for paraganglioma is surgical resection; most tumors are benign and can be excised totally. Following surgical cure, annual biochemical testing assesses for metastatic disease, tumor recurrence or delayed appearance of multiple primary tumors.

Adult↗
PubMed2003

Clinical impact of somatostatin receptor scintigraphy in the management of paragangliomas of the head and neck.

UNLABELLED: Paragangliomas are neuroendocrine tumors expressing somatostatinergic receptors and, thus, may be imaged by somatostatin receptor scintigraphy (SRS). The purpose of the study was to assess the contribution of SRS in the management of paraganglioma of the head and neck. METHODS: (111)In-Pentetreotide (148 MBq) was intravenously administered to 3 groups of patients. Group A consisted of 9 patients with tumors of the head and neck that did not exhibit typical radiologic features of paragangliomas and required further diagnostic evaluation. Group B consisted of 28 patients with known paragangliomas or paraganglioma metastatic lymph node who required staging and assessment of multicentricity. Group C consisted of 5 asymptomatic relatives of affected individuals who required screening. All patients underwent clinical, laboratory, radiologic, and audiovestibular evaluation. RESULTS: In group A (n = 9), SRS was positive in 6 cases, 4 paragangliomas and 2 meningiomas, and negative in 3 patients in whom the initial diagnosis of paraganglioma was excluded. In group B (n = 28), SRS was strongly positive in all of the 34 head and neck masses diagnosed on conventional imaging to be paragangliomas; it localized 1 primary malignant paraganglioma and revealed 9 unexpected foci. In group C (n = 5), SRS was positive in 3 of the 5 relatives, CT or MR scan confirming the diagnosis of paraganglioma in all cases. CONCLUSION: Because of very high sensitivity in detecting paraganglioma, SRS should be included in a multiple-step strategy for patients' management. It could be useful in ruling out the diagnosis of schwannoma, but its major advantage may involve patients' staging. Once biologic genetic testing of affected patients' relatives evidenced the predisposing mutation, SRS could be proposed to identify individuals who express the disease.

Adult↗