Paraganglioma of cauda equina.
After a brief introduction to the problem of the nature and localisation of sympathetic and parasympathetic paragangliomas a new case of paraganglioma of cauda equina is reported.
Adult↗
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Sustentacular cells in sporadic paraganglioma-like medullary thyroid carcinoma: report of a case with diagnostic and histogenetic considerations.
Sustentacular cells (SCs) are glial supporting cells of the fetal, adult normal, and neoplastic extra and adrenal human chromaffin cell lineage. SCs have also been identified in some cases of medullary thyroid carcinoma (MTC), raising both diagnostic and histogenetic problems. We report a rare case of a sporadic paraganglioma-like variant of MTC showing numerous S-100 protein and glial fibrillar acid protein (GFAP) positive SCs encircling neoplastic cells in a nesting (Zellballen) pattern similar to that observed in paragangliomas or pheochromocytomas. Although stromal amyloid deposits were only focally detected, diagnosis was immunohistochemically confirmed by immunoreactivity of the neoplastic cells for cytokeratin, CEA, calcitonin, chromogranin A, neuron-specific-enolase, and synapthopysin. As for the histogenesis of SCs, if we assume that MTC is a neural crest-derived tumor, it is likely that these cells reflect the ability of the common precursor cell to differentiate towards a sustentacular-type glial cell lineage in addition to the typical neuroendocrine one. This viewpoint is supported by the evidence that rare cases of MTC may contain neoplastic or supporting cells showing a multidirectional differentiation (usually neuroendocrine and melanocytic) that recapitulates the different cell lineages arising from the developing neural crests.
Carcinoma, Medullary↗
Bronchial carcinoids with S-100 positive sustentacular cells. A comparative study with gastrointestinal carcinoids, pheochromocytomas and paragangliomas.
Fourty-six bronchial carcinoids, twelve tumourlets and twenty areas of neuroendocrine cell dysplasia (NED) were immunohistochemically evaluated for various neuroendocrine markers, S-100 protein (S-100), myelin basic protein, intermediate filaments, actin, Leu-7 and several neurohormonal polypeptides. Eighteen of the bronchial carcinoids (39.1%) showed a biphasic cell pattern, with abundant stellate-shaped S-100 positive cells (SC). SC were not reactive for chromogranin A, myelin basic protein, cytokeratins, neurofilaments, glial fibrillary acidic protein or actin, and were only occasionally weakly positive for vimentin. SC were not detected in the tumourlets nor in the NED observed. For comparison a group of other neuroendocrine tumours (11 gastrointestinal carcinoids, 4 pheochromocytomas and 4 paragangliomas) were immunostained for S-100, chromogranin A and actin. SC similar to the ones detected in the bronchial carcinoids could be detected in appendiceal carcinoids, paragangliomas and in two out of four pheochromocytomas. Our present data are in keeping with a Schwannian/sustentacular nature of SC rather than that of a histiocytic or myoepithelial nature. We suggest that SC-rich bronchial carcinoids are biphasic tumours, which could be designed "paraganglioid" bronchial carcinoids. The relationship between SC-rich bronchial carcinoids and tumourlets/NED is a matter of further investigation: SC-rich bronchial carcinoids may either differentiate in a biphasic pattern during tumoural growth or may not be histogenetically related to tumourlets.
Adrenal Gland Neoplasms↗
[Periampullar gangliocytic paraganglioma resected by surgical ampullectomy: a case report].
We report the case of a 40-Year-old woman with duodenal gangliocytic paraganglioma of the ampulla of Vater. Preoperative diagnosis was periampullar tumor. Final diagnosis of duodenal gangliocytic paragangioma of the ampulla of Vater with negative margins was made by histological and immunohistochemical study of surgical ampullectomy specimen. This case report stresses the yield of immunohostochemical study in the diagnosis of duodenal gangliocytic paraganglioma, a rare entity.
Adult↗
Malignant paraganglioma with skeletal metastases and spinal cord compression: response and palliation with chemotherapy.
Paragangliomas (carotid body tumours, chemodectomas) may arise in any area of the body where sympathetic ganglia are present, including chemoreceptors, the adrenal medulla and retroperitoneal ganglia. Increasing numbers of patients are being reported with vertebral metastases and spinal cord compression for which either decompression laminectomy or external beam radiotherapy, or both, are required. Patients with vertebral metastases may develop progression of disease after radiation therapy. There is little published information on the use of chemotherapy in this clinical situation. We report a case of metastatic paraganglioma complicated by spinal cord compression showing evidence of clinical benefit from chemotherapy after progressive disease and symptoms developed in a region previously treated by radiation therapy.
Adult↗
Mediastinal paraganglioma irrigated by coronary vessels in a patient with an atypical chest pain.
We present a case of non-functioning anterior mediastinal paraganglioma in a 61-year-old woman. The tumour was accidentally discovered on a coronary angiography performed in an atypical precordial pain and dyspnea. The coronary angiography showed a vascular tumour in the paraaortic localization irrigated from two branches of coronary arteries. Diagnosis was confirmed by a thoracic tomographic scan which revealed an anterior mediastinal tumour. Complete tumour resection was done through a sternotomy with extracorporeal circulation without cardiac arrest. The histological examination of the operative specimen was characteristic of paraganglioma.
Chest Pain↗
Paraganglioma of the maxillary sinus.
Non-chromaffin paragangliomas are unusual tumours arising in specialized tissue, probably of neural crest origin. A primary non-chromaffin paraganglioma of the paranasal sinuses is a very rare tumour with only a handful of such cases documented in the literature. The presence of such a tumour raises interesting questions as to the origin of such specialized tissue within the nose and paranasal sinuses.
Adolescent↗
Laryngeal paraganglioma. A review and report of a single case.
Laryngeal paraganglioma originates in the neural crest cells in the laryngeal paraganglia. Two distinct types may be cited on the basis of clinical features, but biopsy is essential for diagnosis. By light microscopy, the Zellballen pattern appears pathognomonic. The treatment consists of surgical excision. In this article, due to the rareness of the tumour, one case of laryngeal paraganglioma is presented. The general knowledge and the available literature are reviewed. The difficulties in the differential diagnosis are stressed and treatment principles are discussed.
Diagnosis, Differential↗
Malignant vagal paraganglioma.
Vagal paraganglioma is a rare usually benign tumour of neural crest origin. The malignant form of this tumour is very uncommon and the diagnosis is made on the basis of its clinical behaviour rather than its histological appearance. We report a case of vagal paraganglioma metastatic to adjacent cervical nodes and discuss the diagnosis and management of this tumour.
Adult↗
Paraganglioma of the pancreas: literature review and case report.
Extraadrenal paragangliomas are very rare tumors arising from cells derived from the neural crest. These tumors are encountered only as case reports, and as a result, little is known of their natural history. We present a case of pancreatic paraganglioma and review all previously reported cases.
Aged↗
Paraganglioma of the pituitary fossa: diagnosis and management.
Paraganglioma of the sellar area is extremely rare with only six cases having been reported in the literature. Surgical removal of these tumors is difficult, and the transsphenoidal approach usually results in limited resection. Most authors who published reports on this tumor recommended radiation therapy after partial removal of the tumor. However, considering the benign nature of these tumors, the risk of radiation-induced endocrine insufficiency and optic neuropathy and the lack of proven effectiveness of radiotherapy, its value remains controversial. We describe a 48-year-old woman with parasellar paraganglioma who presented with headaches, visual loss and oligomenorrhea. Magnetic resonance imaging (MRI) showed an invasive tumor in the sellar and parasellar areas which extended to both cavernous sinuses and compressed the optic chiasm and the left internal carotid artery. Surgery by the transsphenoidal approach enabled only limited biopsy of the tumor. The patient was reoperated by an extended pterional approach which resulted in a subtotal removal of the tumor and adequate decompression of the adjacent structures. She received no adjuvant treatment during the 8-year postsurgical follow-up and remained in good health. A repeated MRI showed no change in the size of the residual tumor. Contrary to the therapeutic recommendations described in previous reports, we favor postoperative adjuvant therapy only if the symptoms or signs of cranial nerve compression persist following maximal tumor removal, or if there is evidence of subsequent growth of residual tumor.
3-Iodobenzylguanidine↗
Novel succinate dehydrogenase subunit B (SDHB) mutations in familial phaeochromocytomas and paragangliomas, but an absence of somatic SDHB mutations in sporadic phaeochromocytomas.
Phaeochromocytomas arising in adrenal or extra-adrenal sites and paragangliomas of the head and neck, in particular of the carotid bodies, occur sporadically and also in a familial setting. In addition to mutations in RET and VHL in familial disease, germline mutations in SDHD and SDHB genes that encode subunits of mitochondrial complex II have also been associated with the development of familial phaeochromocytomas. To further investigate the role of SDHD and SDHB in the development of these tumours we determined the occurrence of germline SDHD and SDHB mutations in four patients with a family history of phaeochromocytoma with associated head and neck paraganglioma, one patient with a family history of phaeochromocytoma only and two patients with apparently sporadic extra-adrenal phaeochromocytoma, one of whom had early onset disease. Secondly, we investigated whether somatic SDHB mutations correlated with loss of heterozygosity at 1p36 in a subgroup of 11 sporadic and three MEN 2-associated RET-mutation-positive phaeochromocytomas. Novel SDHB mutations were identified in the probands from four families and two apparently sporadic cases (six of seven probands studied), including two missense mutations, a single nonsense and frameshift mutation, as well as two splice site mutations, one of which was shown to have partial penetrance resulting in 'leaky' splicing. Further, five intronic polymorphisms in SDHB were found. No SDHD mutations were identified. In addition, no somatic SDHB mutations were found in the remaining allele of the 11 sporadic adrenal phaeochromocytomas with allelic loss at 1p36 or the three MEN 2-associated RET-mutation-positive phaeochromocytomas. Therefore, we conclude that SDHB has a major role in the pathogenesis of familial phaeochromocytomas, but the possible role of SDHB in sporadic tumours showing allelic loss at 1p36 has yet to be ascertained.
Adolescent↗
Somatic loss of maternal chromosome 11 causes parent-of-origin-dependent inheritance in SDHD-linked paraganglioma and phaeochromocytoma families.
Germline mutations in succinate dehydrogenase subunits B, C and D (SDHB, SDHC and SDHD), genes encoding subunits of mitochondrial complex II, cause hereditary paragangliomas and phaeochromocytomas. In SDHB (1p36)- and SDHC (1q21)-linked families, disease inheritance is autosomal dominant. In SDHD (11q23)-linked families, the disease phenotype is expressed only upon paternal transmission of the mutation, consistent with maternal imprinting. However, SDHD shows biallelic expression in brain, kidney and lymphoid tissues (Baysal et al., 2000). Moreover, consistent loss of the wild-type (wt) maternal allele in SDHD-linked tumours suggests expression of the maternal SDHD allele in normal paraganglia. Here we demonstrate exclusive loss of the entire maternal chromosome 11 in SDHD-linked paragangliomas and phaeochromocytomas, suggesting that combined loss of the wt SDHD allele and maternal 11p region is essential for tumorigenesis. We hypothesize that this is driven by selective loss of one or more imprinted genes in the 11p15 region. In paternally, but not in maternally derived SDHD mutation carriers, this can be achieved by a single event, that is, non-disjunctional loss of the maternal chromosome 11. Thus, the exclusive paternal transmission of the disease can be explained by a somatic genetic mechanism targeting both the SDHD gene on 11q23 and a paternally imprinted gene on 11p15.5, rather than imprinting of SDHD.
Chromosome Deletion↗
Primary spinal paragangliomas: a clinicopathological and immunohistochemical study of 30 cases.
AIMS: Extra-adrenal paragliomas are neoplasms which have been the subject of much debate regarding parameters to establish their biological behaviour. This study describes the clinicopathological and immunohistochemical features of 30 cases of spinal paragliomas. METHODS AND RESULTS: There were 15 male and 15 female patients. The median age at diagnosis was 46 years (range 20-74 years). Fourteen patients presented with back pain, two with numbness of the lower extremities, one with difficulty in walking and one with spinal cord compression. Nineteen tumours were located in the lumbar region, six in the cauda equina, two in the filum terminale, two in the thoracic region and one in the cervical region. All patients underwent gross total excision. The size of the tumours ranged from 10 to 50 mm. Histologically, 18 neoplasms showed alveolar (Zellballen) pattern, seven a spindle component, two eosinophilic granular cells suggestive of oncocytic metaplasia, two melanin pigment and one ganglion cells. Positive immunohistochemical results include: neuron-specific enolase 23/23 (100%), synaptophysin 21/23 (91%), S100 protein 22/23 (95%, sustentacular cells), leu-enkephalin 11/23 (47%), somatostatin 8/23 (34%), focal glial fibrillary acidic protein 7/23 (30%), focal keratin 5/23 (21%), neurofilament proteins 3/23 (13%) and adrenocorticotrophic hormine (ACTH) 1/23 (4%). Follow-up information obtained in 20 patients show 17 patients alive over a period of 6-216 months. One patient had bone metastases. Two patients died of unrelated causes, including one of congestive heart failure and one of myocardial infarction. CONCLUSIONS: In our experience, spinal paragangliomas behave as slow-growing tumours susceptible to potential cure by total excision. We agree with the current World Health Organization (WHO) classification as grade I tumours. Less than 1% may be locally aggressive. Spinal paragangliomas immunoreact not only for conventional neuroendocrine markers but also for peptides including somatostatin and ACTH and focally for the epithelial marker keratin.
Adult↗
Multifocal malignant extra-adrenal paragangliomas of the Organ of Zuckerkandl and urinary bladder.
A case of multifocal malignant extra-adrenal paragangliomas involving the Organ of Zuckerkandl and urinary bladder is presented. The role and order of imaging investigations of functioning extra-adrenal paraganglioma is discussed.
Humans↗
An unusual cause of reflex cardiovascular syncope: vagal paraganglioma.
Vagal paraganglioma is one of the rare tumors of the neuroendocrine system. We are reporting a vagal paraganglioma case presented with uncommon features of the disease: asystole and syncope. Syncope episodes occurred 3 years before the major symptoms of the disease. Dual chamber pacemaker failed to prevent syncope attacks because of the vasodepressor component. The patient was treated successfully with en bloc removal of tumor and vagal nerve. Syncope episodes disappeared after operation.
Adult↗
An unusual bilateral cervical paraganglioma: a case report.
Paragangliomas are neoplasms originating from paraganglion tissue derived from mesoderm, the most common location being adjacent to carotid bifurcation. Rarely these tumours can be bilateral. We present here a case of bilateral paraganglioma occurring in a young woman. On one side the tumour was arising from the vagus nerve and on the other, from the carotid body. Clinical, radiological and histopathological features and treatment dilemmas are discussed.
Adult↗
New insights in the genetics of adrenocortical tumors, pheochromocytomas and paragangliomas.
Recent advances in the molecular genetic of adrenal tumors give new insights in the pathophysiology of these neoplasms in both hereditary and sporadic cases. The practice of genetic counselling in patients with adrenal tumors have been recently changed by the identification and the understanding of new specific hereditary cancer susceptibility syndromes. In the case of sporadic adrenocortical tumors these progress also offer new prognosis predictors. The genetic predisposition to adrenocortical cancer in children has been well established in the Li-Fraumeni and Beckewith-Wiedeman syndromes due to germline p53 mutation located at 17p13 and dysregulation of the imprinted IGF-2 locus at 11p15, respectively. Adrenocortical tumors are also observed in Multiple Endocrine Neoplasia type I syndrome. Cushing's syndrome due to primary pigmented nodular adrenocortical disease have been observed in patients with germline PRKAR1A inactivating mutations. Interestingly allelic loss at 17p13 and 11p15 have been observed in sporadic adrenocortical cancer and somatic PRKAR1A mutations in secreting adrenocortical adenomas. The potential interest of these finding for the diagnosis of these tumors will be discussed. In the case of pheochromocytoma and paraganglioma, the demonstration that three genes encoding three succinate dehydrogenase subunits (SDHD, SDHB, SDHC), belonging to the complex II of the respiratory chain in the mitochondria, are involved in the genetics of familial and especially in apparently sporadic phaeochromocytomas have dramatically modified our practice. Up to date, four diagnosis of familal disease (multiple endocrine neoplasia type II, von Hippel Lindau disease, neurofibromatosis type 1 and hereditary paraganglioma) should be discussed and causative mutations in six different phaechomocytoma susceptibility genes (RET, VHL, NF1, SDHB, SDHD, SDHC) could be identified. In this review, we will perform an update compiling these new clinical, genetic and functional data recently published. We will suggest guidelines for the practice of the phaeochomocytoma genetic testing in the patients and their families, and for an early detection of tumors in the patients or in individuals determined to be at-risk of disease by the presymptomatic genetic testing.
Adrenal Cortex Neoplasms↗