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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↗

PubMed1998

A family with hereditary extra-adrenal paragangliomas without evidence for mutations in the von Hippel-Lindau disease or ret genes.

OBJECTIVES: To characterize a family with hereditary paraganglioma, and to search for germline mutations in the von Hippel-Lindau disease (VHL) tumour suppressor gene and the ret proto-oncogene. DESIGN: Patient records and histopathological reports were reviewed. Available tumour samples were reinvestigated using immunohistochemical techniques. The VHL gene was investigated by single strand conformational polymorphism analysis of PCR products amplified from exons 1, 2 and 3 and the 3' untranslated region. The ret gene was analysed by amplifying and sequencing exons 10, 11 and 16. PATIENTS: A family with paragangliomas in three consecutive generations was investigated. RESULTS: The affected individuals were found to have multiple extra-adrenal paragangliomas. All three affected individuals had retroperitoneal tumours, and two also had paraganglioma in the neck. No mutations of the VHL or ret genes were detected. CONCLUSIONS: The described family may represent a novel dominantly inherited neuroendocrine tumour syndrome.

Adolescent↗

PubMed2003

The management of benign and malignant pheochromocytoma and abdominal paraganglioma.

AIMS: To report treatment and outcome in patients with malignant and benign pheochromocytoma and abdominal paraganglioma. METHODS: Review of clinical and therapeutic features in 85 patients with pheochromocytoma or abdominal paraganglioma between 1976 and 1999. RESULTS: Thirty-nine of 85 patients presented with symptoms other than classical paroxysmal attacks. Paragangliomas were more often malignant (7/15) than pheochromocytomas (7/70). No recurrences have occurred in 71 patients with tumours initially classified as benign after a median follow-up time of 144 months (range 7-287). Nine of 14 patients with tumours classified as malignant have developed metastasis and/or local recurrence. Treatment of malignant tumours with cyclophosphamide, vincristine and dacarbazine (CVD) improved or stabilised the disease in three of four patients. CONCLUSION: Life long follow-up of patients with benign pheochromocytoma is not necessary. Combination chemotherapy (CVD) is a valid option in the treatment of malignant pheochromocytomas and abdominal paragangliomas.

Abdominal Neoplasms↗

PubMedDate not supplied

[Orbital myopathy in metastatic malignant paraganglioma: a paraneoplastic syndrome?].

BACKGROUND: Several disease entities of the orbit are known which display an autoimmunological pathogenesis. Among these disease entities the thyroid-related immune orbitopathy and the idiopathic orbital inflammatory syndrome (orbital pseudotumor). The pathogenesis of these diseases is not well understood; however, an autoimmune inflammatory reaction histologically characterized by a chronic inflammatory cell infiltrate has been suggested. One care of orbital pseudotumor presumably of paraneoplastic origin occurring in a patient with a non-Hodgkin's lymphoma has been reported. We report a patient with a metastatic paraganglioma and a proptosis secondary to enlargement of all extraocular muscles. CASE REPORT: A 52-year-old woman presented with a recent decline in visual clarity of her left eye and diplopia. Two years ago, the diagnosis of a hormonally inactive paraganglioma has been made. Ophthalmologic examination displayed a lagophthalmos caused by a right-sided facial paralysis secondary to a cerebral metastasis and a bilateral enlargement of all extraocular muscles. Curative therapy for the paraganglioma was not available. Palliative therapy as well as a high-dose corticosteroid therapy for the orbitopathy was refused by the patient. The patient died 18 months later. DISCUSSION: Our patient developed orbital changes similar to thyroid-related immune orbitopathy; however, there was no dysfunction of the thyroid. We believe that the orbital changes were a paraneoplastic immune reaction caused by the metastatic paraganglioma. We recommend that in patients who do not conform to the prototypical profile of well-known orbital disease entities should undergo further testing to exclude a remote neoplasm.

Autoimmune Diseases↗

PubMed2001

The R22X mutation of the SDHD gene in hereditary paraganglioma abolishes the enzymatic activity of complex II in the mitochondrial respiratory chain and activates the hypoxia pathway.

Hereditary paragangliomas are usually benign tumors of the autonomic nervous system that are composed of cells derived from the primitive neural crest. Even though three genes (SDHD, SDHC, and SDHB), which encode three protein subunits of cytochrome b of complex II in the mitochondrial respiratory chain, have been identified, the molecular mechanisms leading to tumorigenesis are unknown. We studied a family in which the father and his eldest son had bilateral neck paragangliomas, whereas the second son had a left carotid-body paraganglioma and an ectopic mediastinal pheochromocytoma. A nonsense mutation (R22X) in the SDHD gene was found in these three affected subjects. Loss of heterozygosity was observed for the maternal chromosome 11q21-q25 within the tumor but not in peripheral leukocytes. Assessment of the activity of respiratory-chain enzymes showed a complete and selective loss of complex II enzymatic activity in the inherited pheochromocytoma, that was not detected in six sporadic pheochromocytomas. In situ hybridization and immunohistochemistry experiments showed a high level of expression of markers of the angiogenic pathway. Real-time quantitative reverse transcriptase (RT)-PCR measurements confirmed that vascular endothelial growth factor and endothelial PAS domain protein 1 mRNA levels were significantly higher (three- and sixfold, respectively) than those observed in three sporadic benign pheochromocytomas. Thus, inactivation of the SDHD gene in hereditary paraganglioma is associated with a complete loss of mitochondrial complex II activity and with a high expression of angiogenic factors.

Adult↗

PubMed2003

Early-onset renal cell carcinoma as a novel extraparaganglial component of SDHB-associated heritable paraganglioma.

Hereditary paraganglioma syndrome has recently been shown to be caused by germline heterozygous mutations in three (SDHB, SDHC, and SDHD) of the four genes that encode mitochondrial succinate dehydrogenase. Extraparaganglial component neoplasias have never been previously documented. In a population-based registry of symptomatic presentations of phaeochromocytoma/paraganglioma comprising 352 registrants, among whom 16 unrelated registrants were SDHB mutation positive, one family with germline SDHB mutation c.847-50delTCTC had two members with renal cell carcinoma (RCC), of solid histology, at ages 24 and 26 years. Both also had paraganglioma. A registry of early-onset RCCs revealed a family comprising a son with clear-cell RCC and his mother with a cardiac tumor, both with the germline SDHB R27X mutation. The cardiac tumor proved to be a paraganglioma. All RCCs showed loss of the remaining wild-type allele. Our observations suggest that germline SDHB mutations can predispose to early-onset kidney cancers in addition to paragangliomas and carry implications for medical surveillance.

Adolescent↗

PubMed1977

Gangliocytic paraganglioma.

Six cases of upper intestinal gangliocytic paraganglioma, five in the duodenum and one in the jejunum, are reported. Three histologic patterns, each comparable to patterns in paraganglioma, ganglioneuroma, or carcinoid-islet cell tumor, are mixed in varying proportions. The complex histologic patterns encountered within these tumors reflect the differentiation of pluripotent cells. Although the parent cell is not identified in this study, gangliocytic paragangliomas may arise from cells which normally reside in the mucosal crypts and are presumably derived from cells originating in the neural crest. Three of the six tumors contain stromal amyloid. In one case, studied by electron microscopy, dense-cored cytoplasmic vesicles almost fill some of the tumor cells. Gangliocytic paragangliomas share the features of stromal amyloid and dense-cored vesicles with other neurocrine tumors.

Adult↗

PubMed1998

Pigmented ("black") extraadrenal paraganglioma.

A pigmented ("black") extraadrenal paraganglioma was discovered incidentally in a 57-year-old woman during ultrasonography. The tumor was located in the retroperitoneum near the superior border of the right kidney. Results of preoperative fine-needle aspiration and intraoperative frozen sectioning of the resected jet-black tumor (13 cm in diameter, 225 g) were both interpreted as suspicious for malignant melanoma. Histomorphology and immunohistochemistry were diagnostic for paraganglioma. Electron microscopy showed numerous dense-core neurosecretory-type granules, as well as abundant, larger pleomorphic electron-dense granules; most were consistent with lipofuscin or neuromelanin. No melanosomes or premelanosomes were identified. Histochemical stains showed that the pigment most likely is neuromelanin, a nonenzymatic or oxidative waste product of catecholamine metabolism. Eighteen other examples of pigmented paragangliomas have been reported in various sites in the English literature during the last 12 years; most indicate the presence of melanosomes or premelanosomes using electron microscopy, whereas in a minority of cases the pigment has not been characterized rigorously. Common embryogenesis from neural crest may help explain the overlapping phenotype of melanocytes and cells of paraganglioma.

Female↗

PubMed2001

Pulmonary gangliocytic paraganglioma: case report and comparative immunohistochemical study of related neuroendocrine neoplasms.

The authors report a case of gangliocytic paraganglioma of the lung, which has not yet been described in a pulmonary neoplasm. A 75-year-old man underwent right middle and lower lobe lobectomy. A slightly yellowish mass was located at the bifurcation between the lower and middle lobe bronchus, protruding into the truncus intermedius. The neoplastic cells were composed of three cellular elements: uniform endocrine cells in a Zellballen arrangement, large ganglion-like cells within the nests of endocrine cells, and spindle-shaped cells arranged in streams to surround the nests. Each component exhibited the characteristic immunohistochemical properties, which were similar to those of the corresponding neuroendocrine neoplasms: Endocrine cells were positive for CAM 5.2, chromogranin A, and synaptophysin, like carcinoid tumor; ganglion-like cells were positive only for neurofilament, like ganglioneuroma; and spindle-shaped cells were positive for neurofilament and S-100 protein, like paraganglioma. These results agreed with those in gangliocytic paraganglioma of the duodenum. Pulmonary gangliocytic paraganglioma is similar to that in the duodenum, and is a hamartomatous proliferation of epithelial endocrine and neuronal cells of the bronchus.

Aged↗

PubMed2003

Gangliocytic paraganglioma of the bronchus: a case report with follow-up and ultrastructural assessment.

We report a case of gangliocytic paraganglioma of bronchus. A 54-year-old woman underwent bronchoscopy following two episodes of right lower lobe pneumonia over the previous 5 months with unresolved chest radiographic changes. A computerized tomographic scan showed a right lower lobe endobronchial lesion, and at bronchoscopy there was a mass partly occluding the lumen of the bronchus. The biopsy and subsequent bronchoscopic resection showed a tumor with morphologic, immunohistochemical, and ultrastructural features of paragangliomatous, gangliocytic, and Schwann cell differentiation consistent with a gangliocytic paraganglioma. The lesion was treated conservatively with bronchoscopic resection and laser therapy. Histopathologic examination of recurrent tumor at 6 months showed features consistent with paraganglioma. Ten months after initial diagnosis, there was no bronchoscopic evidence of residual tumor. The occurrence of gangliocytic paraganglioma in diverse sites gives cause for the reappraisal of the histogenesis of this fascinating lesion. The variable morphology of this lesion may be an expression of the potential for divergent differentiation of a pluripotent stem cell.

Biopsy↗

PubMed2000

Perianesthetic risks and outcomes of pheochromocytoma and paraganglioma resection.

UNLABELLED: Pheochromocytomas and paragangliomas are often surgically curable. However, resection of these tumors can be life threatening. We undertook this study to determine the frequency of, and risk factors for, perioperative complications in patients undergoing resection of pheochromocytoma or paraganglioma. We retrospectively reviewed the medical records of patients during 1983-1996 who underwent surgical resection of catecholamine-secreting pheochromocytoma or paraganglioma. Preoperative risk factors, adverse intraoperative events, and complications occurring in the 30 days after operation were recorded. Blood pressures were collected from manual records. The ranked sum test and Fisher's exact test were used for analyses. Adverse perioperative events or complications occurred in 45 of 143 patients (31.5%; exact 95% confidence interval, 24.0% to 39.8%). Of these 45 patients, 41 experienced one or more adverse intraoperative events. The most common adverse event was sustained hypertension (36 patients). There were no perioperative deaths, myocardial infarctions, or cerebrovascular events. Preoperative factors univariately associated with adverse perioperative events included larger tumor size (P: = 0.007), prolonged duration of anesthesia (P: = 0.015), and increased levels of preoperative urinary catecholamines and catecholamine metabolites: vanillylmandelic acid (P: = 0.019), metanephrines (P: = 0.004), norepinephrine (P: = 0. 014), and epinephrine (P: = 0.004). Despite premedication of most patients with phenoxybenzamine and a beta-adrenergic blocker, varying degrees of intraoperative hemodynamic lability occurred. IMPLICATIONS: Few patients who had pheochromocytoma or paraganglioma resection experienced significant perioperative morbidity and none died in the largest retrospective study on this topic to date. This study confirms the very good perioperative outcomes demonstrated in smaller studies on this high-risk population, and identifies several risk factors for adverse outcomes.

Adolescent↗

PubMed1999

Long-term results of surgery for temporal bone paragangliomas.

OBJECTIVES: Assessment of the long-term results of surgery for temporal bone paragangliomas with special consideration of the patient's ability to cope with the functional deficits. STUDY DESIGN: Retrospective review of 36 patients who had undergone resection of a temporal bone paraganglioma 10 to 15 years previously. Assessment of the patients' subjective view of the functional outcome and quality of life by a questionnaire. METHODS: Clinical records were reviewed regarding size of tumor, technique of surgery, supportive therapy, and tumor recurrence. Patients were sent a 50-item questionnaire evaluating their quality of life and the preoperative and postoperative function of cranial nerves VII through XII. RESULTS: A complete tumor removal was achieved in 30 patients (83%). There was only one tumor recurrence. The major negative effects of surgery involved hearing and dysphagia, which deterioriated in 14 and 12 patients, respectively. Thirty-five of the 36 patients (97%) reported that, despite deterioration, the cranial nerve deficits were still acceptable. Seventy-five percent of the patients regained their preoperative quality of life and 97% returned to their previous occupation in 1 to 2 years. CONCLUSIONS: The otologic extradural approach allowed complete tumor removal in 83%, with minimal perioperative morbidity. No surgically induced central nervous system lesions occured. Tracheostomy was avoided and all patients resumed oral feeding. Full rehabilitation after removal of class C and CD paragangliomas may take 1 to 2 years. However, the fact that 97% of the patients finally resumed normal social life showed the ability of most patients to cope with the sequelae of surgery even in class C and CD paragangliomas.

Adaptation, Psychological↗