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PubMed2002

National Cancer Data Base report on malignant paragangliomas of the head and neck.

BACKGROUND: Malignant paragangliomas of the head and neck are rare, with previous reports limited to nine or fewer patients. The current review included 59 cases extracted from the National Cancer Data Base that were diagnosed between 1985-1996. METHODS: The primary criterion for inclusion in the current study was verified metastatic spread from a paraganglioma of the head and neck. Patterns of presentation and treatment as well as clinically relevant associations were demonstrated in contingency tables. Relative survival was used for analysis of outcome. RESULTS: The average patient age at presentation was 44 years, and gender distribution was equivalent. Metastases were confined to regional lymph nodes in the majority of cases (68.6%), with carotid body tumors found to have an even higher rate of regional confinement (93.8%). Surgery was the most common treatment (76.3%). The use of adjuvant irradiation for regionally confined disease increased across time, from 27% (1985-1990) to 46% (1991-1996). The 5-year relative survival rate was 59.5% (76.8% for regionally confined carcinoma and 11.8% for distant metastasis). Among patients who were followed until death, those treated with adjuvant irradiation had a longer median survival (45 months) compared with those patients who were treated with surgery alone (12 months). CONCLUSIONS: Malignant paraganglioma represents metastatic spread of a tumor type that, when restricted to the site of origin, is considered benign. Metastases from malignant paragangliomas of the head and neck usually are regionally confined. The primary management of a recognized malignancy should be directed toward complete surgical removal of the primary tumor and regional lymph nodes. Postoperative irradiation may be beneficial in slowing the progression of residual disease.

Adult↗

PubMed2002

Alterations of the SDHD gene locus in midgut carcinoids, Merkel cell carcinomas, pheochromocytomas, and abdominal paragangliomas.

Several types of endocrine tumors show frequent somatic deletions of the distal part of chromosome arm 11q, where the tumor-suppressor gene SDHD (succinate-ubiquinone oxidoreductase subunit D), constitutionally mutated in paragangliomas of the head and neck, is located. In this study, we screened 18 midgut carcinoids, 7 Merkel cell carcinomas, 46 adrenal pheochromocytomas (37 sporadic and 9 familial), and 7 abdominal paragangliomas for loss of heterozygosity (LOH) and/or mutations at the SDHD gene locus. LOH was detected in 5 out of 8 (62%) informative midgut carcinoids, in 9 out of 30 (30%) sporadic pheochromocytomas, in none of the familial pheochromocytomas (0%), and in 1 out of 6 (17%) abdominal paragangliomas. No sequence variants were detected in the pheochromocytomas or paragangliomas. However, two constitutional putative missense mutations, H50R and G12S, were detected in two midgut carcinoids, which were both associated with LOH of the other allele. The same sequence variants were also detected in two Merkel cell carcinomas. In addition, the S68S polymorphism was found to coexist with the G12S sequence variant in both cases. In conclusion, we show that alterations of the SDHD gene seem to be involved in the tumorigenesis of both midgut carcinoids and Merkel cell carcinomas.

Abdominal Neoplasms↗

PubMed1989

Nasal and nasopharyngeal paraganglioma.

Paragangliomas of the nasal cavity and nasopharynx should be classified according to the presumed origin from the nasal, jugulotympanic, vagal, or ciliary paraganglion because of the substantial differences in clinical behavior and operative management. This paper presents the ninth published case of a primary nasal paraganglioma and reviews the previously reported cases. Primary nasal paragangliomas are generally localized, although the potential for local invasion is well documented. Malignancy or functional activity has not been described. Complete excision is curative. Jugulotympanic, vagal, and ciliary paragangliomas with extension into the nasopharynx or nasal cavity are typically more advanced at the time of diagnosis and require complete evaluation by computed tomography and arteriography to determine the tumor extent. The operative approach is dependant on the extent of tumor invasion. Irradiation and tumor embolization have been useful for unresectable or partially excised tumors.

Adult↗

PubMed1985

Paraganglioma of the cauda equina: a histological, ultrastructural and immunocytochemical study of two cases with a review of the literature.

The clinical and pathological features of two paragangliomas arising in the cauda equina are described and compared with 14 previous reports. The light microscopic features were similar to those of paragangliomas from other sites, with a 'Zellballen' pattern of cells containing argyrophil granules. Electron microscopy showed densely staining membrane-bound granules, cilia and fibrous bodies in the cytoplasm. The last two features only occur in paragangliomas from this site. gamma-Enolase was demonstrated by the peroxidase-antiperoxidase technique for the first time in these neoplasms. This technique was also used to demonstrate cytokeratins, which appear to be associated with the presence of fibrous bodies. The pathological findings suggest that paragangliomas in this site arise from pre-existing paraganglia, possibly of the visceral autonomic group. The prognosis in cases treated by complete excision appears to be good.

Adult↗

PubMed1978

[Biosynthesis of C19- and C21-steroids in tissue slices of paraganglioma and pheochromocytoma (author's transl)].

The biogenesis of C19- and C21-steroids has been studied in tissue slices of a paraganglioma, of a pheochromocytoma and of human adrenal cortex using radioactive steroids. Slices of paraganglioma as well as of pheochromocytoma metabolise 17-hydroxyprogesterone to cortisone, cortisol, 11-deoxycortisol and testosterone. The rate of formation of these steroids, however, by the two tumours is 8--15 times less than that in normal adrenal cortex tissue. After incubation of dehydroepiandrosterone with tissue slices of paraganglioma and pheochromocytoma, 7alpha-hydroxydehydroepiandrosterone, 11beta-hydroxy-4-androstene-3,17-dione and 4-androstene-3,17-dione were found as metabolites; testosterone was converted by both tissues to 4-androstene-3,17-dione. 17-Hydroxypregnenolone was converted to a small extent (1.7%) to dehydroepiandrosterone by slices of paranganglioma. These results show that enzymes of steroid biosynthesis (hydroxylases, oxidoreductases, delta4(-5)-isomerases, C17(-20)-desmolases) are present in both paraganglioma and pheochromocytoma.

Adrenal Cortex↗

PubMed2002

Loss of heterozygosity on the short arm of chromosome 1 in pheochromocytoma and abdominal paraganglioma.

Pheochromocytomas and abdominal paragangliomas are catecholamine-producing tumors that arise from sympathetic paraganglia within and outside the adrenal medulla, respectively. Deletions of the short arm of chromosome 1 have been implicated as important genetic events in their tumorigenesis and suggest a common genetic etiology. The aim of this study was to define further the chromosomal regions on 1p that are involved in the development of these tumor types. We analyzed 46 pheochromocytomas (1 benign, 6 malignant, 9 hereditary) and 7 paragangliomas (3 benign, 4 malignant) from 50 patients for loss of heterozygosity (LOH) on 1p by genotyping 15 microsatellite markers spread over the chromosome arm. Overall, LOH was detected in 33 of 46 pheochromocytomas (72%) and in 6 of 7 (86%) paragangliomas. Three minimal regions of overlapping deletions were identified: one telomeric of D1S1612(1p36.2-pter), one centromeric of D1S429 (1cen-p13), and one in the 18 cM interval defined by D1S2134 andD1S1669 (1p32). The latter region harbors the leukocyte common antigen-related (LAR) gene, which shows altered expression in sporadic rat pheochromocytomas. In conclusion, chromosome 1p may be the site of at least three putative tumor-suppressor gene loci involved in the tumorigenesis of pheochromocytomas and abdominal paragangliomas. Further studies of these regions and of LARas a candidate gene would be valuable.

Adrenal Gland Neoplasms↗

PubMed1997

[Paraganglioma of the cauda equina].

We report on a case of paraganglioma of the cauda equina in a 48-year-old man. These slow-growing, mostly benign and encapsulated intradural-extramedullar tumours are clinically characterized by lumbago, paraesthesia and motor deficits as well as occasionally by incontinence. Paragangliomas of the cauda equina show monomorphous (main) cells arranged in a typical cell cluster pattern, demonstrating a lobular architecture and a fine net of connective tissue formed by so-called sustentacular cells; some tumours show focal ganglionic differentiation. Because of their morphological similarity to the more common ependymomas, paragangliomas of the cauda equina are sometimes misdiagnosed so that their incidence is likely to be higher than previously estimated. Immunohistochemistry findings are positive for neuron-specific enolase, chromogranin and other neuronal markers as well as neuropeptides (main cells) and S-100 protein (sustentacular cells) while widely lacking reactivity for GFAP. Paragangliomas of the cauda equina represent a rare entity, of which only 80 cases have been described in the literature. Because they only occur sporadically, they are often not included in the differential diagnosis of mass lesions of the region of the cauda equina.

Biomarkers↗

PubMed1998

Nonfunctional paraganglioma of the pancreas: report of a case.

We report herein the case of a 61-year-old man found to have a rare nonfunctional paraganglioma of the pancreas. Interestingly, the preoperative data and images showed similar characteristics to neuroendocrine tumors of the pancreas. Both paragangliomas and neuroendocrine tumors of the pancreas belong to the category of Amine Precursor Uptake and Decarboxylation (APUD) tumors (APUDomas). Thus, it is important to examine the serum level of pancreatic endocrine hormones and a variety of peptides to differentiate paragangliomas of the pancreas from other pancreatic tumors. Paragangliomas of the pancreas grow slowly, so radical resection is recommended to achieve curability with a good prognosis.

Humans↗

PubMed1983

Paraganglioma of urinary bladder.

The literature is reviewed and 2 new cases of paraganglioma of the urinary bladder, 1 malignant and 1 benign, are presented. One patient had no classic symptoms of vesical paraganglioma, and diagnosis was made postoperatively by means of light and electron microscopy. Differentiation between malignant and benign endocrine tumor cannot be made histopathologically and biochemically. The preoperative diagnosis of bladder paraganglioma is established when there is a combination of atypical urinary symptoms and elevation of catecholamines in the urine or blood. The risk of dangerous vasomotor changes needs a multi-team approach for diagnosis and surgical treatment. The pathologic features, histochemical reactions, ultrastructural characteristics, histogenesis, methods for early diagnosis, and detection of multiple localizations or metastasis are briefly discussed. A precise family history should be obtained in any patient with an extra-adrenal paraganglioma to facilitate early diagnosis of tumors in previously unaffected family members or of additional tumors in affected relatives.

Aged↗

PubMed2000

Comparative genomic hybridization reveals frequent losses of chromosomes 1p and 3q in pheochromocytomas and abdominal paragangliomas, suggesting a common genetic etiology.

Pheochromocytomas and abdominal paragangliomas are rare, catecholamine-producing tumors that arise from the chromaffin cells derived from the neural crest. We used comparative genomic hybridization (CGH) to screen for copy number changes in 23 pheochromocytomas and 11 abdominal paragangliomas. The pattern of copy number changes was similar between pheochromocytomas and paragangliomas, with the most consistent finding being loss of 1cen-p31, which was detected in 28/34 tumors (82%). Losses were also found on 3q22-25 (41%), 11p (26%), 3p13-14 (24%), 4q (21%), 2q (15%), and 11q22-23 (15%), and gains were detected on 19p (26%), 19q (24%), 17q24-qter (21%), 11cen-q13 (15%), and 16p (15%). Losses of 1p and 3q were detected in the majority of tumors, whereas gains of 19p and q, 17q, and 16p were seen only in tumors with six or more CGH alterations. This progression of genetic events did not correspond with the conversion to a malignant phenotype. CGH alterations involving chromosome 11 were more frequent in the malignant tumors, compared with the benign tumors (9/12 versus 3/16). In summary, we propose that pheochromocytomas and abdominal paragangliomas, which share many clinical features, also have a common genetic origin and that the loss of 1cen-p31 represents an early and important event in tumor development.

Abdominal Neoplasms↗

PubMed2000

Resection of a branchiomeric paraganglioma at a rare extrapulmonary location.

Thoracic paragangliomas are a rare cause of hypertension. We report the occurrence of a sporadic benign norepinephrine-producing branchiomeric paraganglioma in a 32-year-old man with paroxysms of hypertension. After localization by iodine 123-metaiodobenzyl-guanidine scintigraphy and magnetic resonance imaging, the paraganglioma was resected successfully below the right pulmonary artery through a right-sided posterolateral thoracotomy. The particular location was consistent with a branchiomeric paraganglioma in an extremely rare extrapulmonary location.

3-Iodobenzylguanidine↗

PubMed1998

Laparoscopic surgery for pheochromocytoma: adrenalectomy, partial resection, excision of paragangliomas.

PURPOSE: Surgical treatment of pheochromocytoma includes adrenalectomy, adrenal sparing surgery and excision of extraadrenal paragangliomas. We report our experience using laparoscopy for these procedures. MATERIALS AND METHODS: Between June 1992 and November 1997, 19 patients underwent laparoscopic surgery for pheochromocytoma. Of the patients 14 had solitary tumors, and 4 presented with bilateral pheochromocytomas and 1 or 2 additional paragangliomas. In 1 patient a recurrent pheochromocytoma was found in the contralateral adrenal following previous right adrenalectomy. One patient each had myocardiopathy, amaurosis and stroke secondary to severe hypertension. Two patients were pregnant. RESULTS: All solitary tumors were treated with laparoscopic adrenalectomy. Laparoscopic adrenal sparing surgery (4 cases, 2 bilateral) and bilateral adrenalectomy (1) were performed for multiple familial pheochromocytoma, and all paragangliomas were excised simultaneously. The pregnant patients underwent surgery at 16 and 20 weeks of gestation, respectively. All procedures were completed as planned. The rate of minor intraoperative and postoperative complications was 11% and 16%, respectively, and there were no major complications. In all patients the catecholamine levels returned to normal and no residual tumors were found at followup. None of the patients undergoing partial resection required steroid replacement therapy. CONCLUSIONS: In experienced hands, laparoscopic surgery for solitary and multiple pheochromocytoma and paraganglioma is feasible and safe, and does not increase the specific risks associated with pheochromocytoma surgery.

Adrenal Gland Neoplasms↗

PubMed2001

Genetics of familial paragangliomas: past, present, and future.

Genetic studies of hereditary paraganglioma tumors could increase the understanding of the biology of these fascinating tumors, with important clinical implications for diagnosis and treatment. This article focuses on the genetics of paraganglioma tumors, with limited reference to their general morphologic and clinical aspects. The paraganglioma tumor phenotype is defined. The genetic and physical mapping studies recently performed are summarized--studies that eventually led to the discovery of the gene for hereditary paraganglioma type 1 (PGL1). Finally, future directions stemming from the PGL gene discovery are described.

Female↗

PubMed1994

Familial paraganglioma.

Extra-adrenal pheochromocytomas and paragangliomas are rare tumors of neural crest origin, most commonly found in the retroperitoneum. Because these tumors are so uncommon, relatively little is known about their natural history. Comparisons between adrenal pheochromocytomas and extra-adrenal pheochromocytomas have appeared in the medical literature. Like pheochromocytomas, paragangliomas may occur as functional or nonfunctional tumors. Furthermore, although the hereditary occurrence of pheochromocytomas is well documented, the familial nature of paragangliomas is unclear. We present the first report of a mother and son with nonfunctional paragangliomas occurring in the same anatomic location and describe their care and treatment.

Adolescent↗

PubMed1998

Metastatic retroperitoneal paraganglioma in a 16-year-old girl. Case report, molecular pathological and cytogenetic findings.

Retroperitoneal paraganglioma is a rare tumor, especially occurring in childhood and adolescence, with a marked tendency to become biologically malignant. It has not been possible to predict the clinical outcome of paraganglioma patients by conventional histology, hence malignancy can only be demonstrated by the occurrence of metastatic lesions. Currently, only limited information on the genetics of this tumor is available. We report on a 16-year-old girl with a large retroperitoneal paraganglioma and an osseous metastasis to the first lumbar vertebra. In addition to morphological and immunohistochemical examinations, a molecular cytogenetic analysis was performed. Comparative genomic hybridization (CGH) revealed imbalanced chromosomal aberrations with a loss of chromosome 1p and a gain of 1q, indicating isochromosome 1q. A loss of chromosome 3 as well as low-level gains of chromosomes 4, 5, 6q, 11q and 13q were detected. A PCR-based microsatellite analysis of 1p confirmed the loss of heterozygosity, including NB1 and NB2 putative tumor-suppressor gene regions. Telomerase activity, which is found in the majority of malignant tumors, could not be detected. The case presented here is the first more comprehensive molecular genetic analysis of a sporadic malignant paraganglioma.

Adolescent↗

PubMed1992

MRI screening of kindred at risk of developing paragangliomas: support for genomic imprinting in hereditary glomus tumours.

Paragangliomas of the head and neck (glomus tumours) can occur in a hereditary pattern and may be hormonally active as well as being associated with paragangliomas elsewhere. A number of these tumours may be present without symptoms. To detect the presence of subclinical paragangliomas we screened 83 members of a family at risk of developing hereditary paragangliomas using whole body MRI and urinary catecholamine testing. In eight previously diagnosed members, eight known glomus tumours of which one functioning, and two unknown glomus tumours and one unknown pheochromocytoma were present. Six unsuspected members showed ten glomus tumours and one pheochromocytoma. It has been suggested that the manifestation of hereditary glomus tumours is determined by the sex of the transmitting parent. There were no tumours in the descendants of female gene carriers. Comparing the likelihood of inheritance with genomic imprinting versus inheritance without genomic imprinting we found an odds ratio of 23375 in favour of genomic imprinting.

Carotid Body↗

PubMed2002

Identification of novel SDHD mutations in patients with phaeochromocytoma and/or paraganglioma.

Familial paraganglioma is a dominantly inherited disorder characterised by the development of highly vascular tumours in the head and neck. Recently, a relationship between hereditary tumours derived from the autonomic nervous system and germline mutations in the gene encoding succinate dehydrogenase complex subunit D (SDHD) is increasingly a subject of study. Familial paraganglioma syndrome is embryologically related to phaeochromocytoma, another neuroendocrine tumour that shows great aetiological and genetic heterogeneity. Some hereditary phaeochromocytomas may be associated with germline mutations in VHL, RET and NF1 genes in genetic disorders such as von Hippel-Lindau disease (VHL), multiple endocrine neoplasia type 2 (MEN 2) and neurofibromatosis type 1 (NF 1), respectively. However, there are many cases that cannot be explained by mutations in these genes. In this report, we describe two previously unreported mutations in two patients from 25 unrelated kindreds with phaeochromocytoma and/or paraganglioma disorders and with or without familial antecedents: a mutation featuring the change of tryptophan to a termination codon in exon 2, and a 4-bp deletion in exon 4 that results in a truncated protein. We also describe one missense substitution of uncertain significance. The patients had previously tested negative for germline mutations in VHL and RET genes and had not been previously selected. The involvement of SDHD mutations in familial phaeochromocytoma and/or paraganglioma predisposition is of considerable interest since other studies have shown these alterations to be associated with highly expressed angiogenic factors.

Adrenal Gland Neoplasms↗

PubMed2002

Absence of somatic SDHD mutations in sporadic neuroendocrine tumors and detection of two germline variants in paraganglioma patients.

Allelic loss of the long arm of chromosome 11 is frequent in neuroendocrine tumors (NET) of different organs. However, the MEN1 gene on 11q13 is mutated only in a subset of NET and allelic losses on 11q frequently extend to the telomere. In this genetic region lies the tumor suppressor gene SDHD which is associated with hereditary paragangliomas (PGL1). We sought to determine whether SDHD plays a role in the development of sporadic NET. By mutation and deletion analysis of SDHD we were unable to detect any SDHD mutation in 45 NET of the lung, gastrointestinal tract, pancreas or parathyroid. However, we found allelic deletions in 20 to 50% of all tumors but parathyroid adenomas. Furthermore, we found heterozygous germline variants in 2/8 paragangliomas. A first case of variant c.149 A>G (H50R) was found in a patient with an extra-adrenal pheochromocytoma, the other variant c.34 G>A (G12S) in a patient with a paratracheal paraganglioma, C-cell hyperplasia of the thyroid and hyperplasia of ACTH-producing cells of the pituitary gland. Both variants were absent in 93 controls. Our results demonstrate that somatic SDHD mutations are rare in sporadic NET. However, LOH alone could lead to a complete loss of function since SDHD is an imprinted gene. Furthermore, we describe two germline variants possibly causing hereditary paragangliomas.

Genes, Tumor Suppressor↗