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required to establish the diagnosis ( Li et al. 2006 ). Adrenal medullary tumours Phaeochromocytomas Most sporadic adrenal phaeochromocytomas are at least 2–3 cm in diameter and can be readily visualised
University College London Cancer Institute, Neuroendocrine Tumour Unit, 72 Huntley Street, London WC1E 6BT, UK
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University College London Cancer Institute, Neuroendocrine Tumour Unit, 72 Huntley Street, London WC1E 6BT, UK
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review of dysregulation of miRNA in ACTs has recently been published ( Singh et al . 2012 ). 11p15.5 imprinted genes may be pathogenic in phaeochromocytoma Loss of imprinting of the 11p15.5 allele (which contains IGF2 ) has been identified in
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Endocrine Genetics Unit (Laboratório de Investigação Médica/LIM-25) of Hospital das Clínicas, Nursing School, School of Public Health, Human Genome Research Center, Division of Genetics, Division of Endocrinology, Brazilian National Laboratory of Biosciences, Centro Integral Oncológico Clara Campal, Department of Genetics, Endocrinology Division, Laboratory of Epidemiology and Population Sciences, University of São Paulo School of Medicine, São Paulo, São Paulo 05403-010, Brazil
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Introduction MEN2 (MIM #164761) is a dominantly inherited multiglandular tumour syndrome that presents with a high penetrance of medullary thyroid carcinoma (MTC; observed in virtually 100% of cases), phaeochromocytoma (50%) and parathyroid adenoma
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). The relative frequencies across series in the literature vary widely: in a large reported series of 204 HNPGLs, 57% were CBTs, 30% JTPGLs and 13% VPGLs ( Erickson et al . 2001 ). Increasingly, due to their association with phaeochromocytomas and new
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cabozantinib and atezolizumab ( Table 1 ). Phaeochromocytoma/paraganglioma The number of clinical trials or case reports/series published on immunotherapy in patients with metastatic phaeochromocytoma/paraganglioma (PC/PGL) is rather limited. PC/PGL are
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Neuroendocrine tumours are a heterogeneous group including, for example, carcinoid, gastroenteropancreatic neuroendocrine tumours, pituitary tumours, medullary carcinoma of the thyroid and phaeochromocytomas. They have attracted much attention in recent years, both because they are relatively easy to palliate and because they have indicated the chronic effect of the particular hormone elevated. As neuroendocrine phenotypes became better understood, the definition of neuroendocrine cells changed and is now accepted as referring to cells with neurotransmitter, neuromodulator or neuropeptide hormone production, dense-core secretory granules, and the absence of axons and synapses. Neuroendocrine markers, particularly chromogranin A, are invaluable diagnostically. Study of several neuroendocrine tumours has revealed a genetic etiology, and techniques such as genetic screening have allowed risk stratification and prevention of morbidity in patients carrying the particular mutation. Pharmacological therapy for these often slow-growing tumours, e.g. with somatostatin analogues, has dramatically improved symptom control, and radiolabelled somatostatin analogues offer targeted therapy for metastatic or inoperable disease. In this review, the diagnosis and management of patients with carcinoid, gut neuroendocrine tumours, multiple endocrine neoplasia types 1 and 2, and isolated phaeochromocytoma are evaluated.
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Abstract
Background: Salmon calcitonin (sCT) injection into rats has been reported to induce pituitary tumours. We have demonstrated the co-existence, in the rat-derived α-TSH cell line, of an sCT-like peptide, as well as a receptor for sCT.
Aim: This was to investigate the possible existence of sCT-like immunoreactivity (sCT-LI) in human neuroendocrine tumours.
Methods: A collection of human neuroendocrine tumours was tested, using a highly specific antibody for sCT. Immunostaining was abolished by preabsorption with sCT at concentrations higher than 1 μg/ml. However, as immunofluorescence was still obvious at the highest concentration (100 pg/ml) of hCT employed, any significant cross-reactivity was excluded.
Results: Of the human pituitary null cell tumours studied, positive staining was obtained in 2 out of 12, suggesting a similarity between the rat and human pituitary glands. None of the other pituitary tumours tested showed sCT-LI (these included 8 corticotroph tumours, 6 prolactinomas and 2 somatotroph tumours).
This work was extended to medullary thyroid carcinomas (MTCs) and a further group of neuroendocrine tumours, looking for the specificity of this sCT-LI among the various APUDomas.
All the tested MTCs (n=14) expressed sCT-LI, while none of the examined phaeochromocytomas (n=23), intestinal carcinoids (n=14), lung carcinoids (n=16), stomach carcinoids (n=2), rectal carcinoids (n=2), gastrinomas (n=4), insulinomas (n=12), oat cell carcinomas (n=7), carotid body tumours (n=9), VIPomas (n=3), or a glucagonoma (n=1) expressed sCT-LI. This indicates that this sCT-LI might be unique to MTC (and possibly the pituitary).
Conclusion: The possible existence of the most potent form of CT may provide an explanation for the vasomotor disturbances in MTC and may be a potential new tumour marker for MTC. Phylogenetically, the presence of a lower form of CT in mammalian tissues would give an insight into the conservation of the CT peptide family in evolution.
Endocrine-Related Cancer (1997) 4 191-195
Centre for Endocrinology, Barts and The London School of Medicine and Dentistry, Queen Mary University of London, Charterhouse Square, London, UK
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Department of Endocrinology, Southampton General Hospital, University Hospital Southampton NHS Trust, Southampton, Hampshire, UK
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have now been associated with phaeochromocytoma and paraganglioma (PPGL) formation in an autosomal dominant manner. SDHA mutations account for only 3% of cases of familial PGL cases, with presumed low penetrance ( Korpershoek et al . 2011 ) and
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multifocal and metachronous disease as well as extra-pancreatic VHL-related neoplasms (e.g. clear cell renal cell carcinoma (ccRCC), phaeochromocytoma and central nervous system haemangioblastoma). Intervention should ideally be timed to eliminate the risk of
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European Association of Nuclear Medicine 2012 Guidelines for radionuclide imaging of phaeochromocytoma and paraganglioma), experts in these tumors put together the updated European Association of Nuclear Medicine Practice Guideline/Society of Nuclear
