Pub Date : 2006-06-01DOI: 10.1097/01.med.0000224802.85953.37
D. Ray
Purpose of reviewThis review will cover new insights into how the POMC gene is regulated in extra-pituitary tissues, and also will cover two major, long-term outcome studies of patients with ectopic adrenocorticotropin (ACTH) syndrome – one from London, UK, the other from the National Institutes of Health, USA. Recent findingsDifferential expression of the POMC gene in nonpituitary cells appears to require the POMC gene promoter to be in a demethylated state. This allows assembly of transcription factors on the DNA, and so expression of the gene. Targeting POMC methylation may therefore eventually offer a novel therapeutic option both for ectopic ACTH syndrome but also other POMC-related pathologies, including Cushing's disease, and obesity. In the last year two major series have been published, reviewing clinical experience of managing the ectopic ACTH syndrome on either side of the Atlantic. These reviews will be interpreted. SummaryEctopic ACTH syndrome remains rare in endocrine practice, but its true incidence is likely to be much higher in patients whose presentation is dominated by the causative malignancy. The syndrome provides insights into the basic mechanisms governing POMC gene expression in a cell-type specific manner, and in development. The majority of causative tumours are thoracic, and are imaged by combined plain radiology, computed tomography and magnetic resonance scanning.
{"title":"Ectopic adrenocorticotropin syndrome: diagnosis and treatment","authors":"D. Ray","doi":"10.1097/01.med.0000224802.85953.37","DOIUrl":"https://doi.org/10.1097/01.med.0000224802.85953.37","url":null,"abstract":"Purpose of reviewThis review will cover new insights into how the POMC gene is regulated in extra-pituitary tissues, and also will cover two major, long-term outcome studies of patients with ectopic adrenocorticotropin (ACTH) syndrome – one from London, UK, the other from the National Institutes of Health, USA. Recent findingsDifferential expression of the POMC gene in nonpituitary cells appears to require the POMC gene promoter to be in a demethylated state. This allows assembly of transcription factors on the DNA, and so expression of the gene. Targeting POMC methylation may therefore eventually offer a novel therapeutic option both for ectopic ACTH syndrome but also other POMC-related pathologies, including Cushing's disease, and obesity. In the last year two major series have been published, reviewing clinical experience of managing the ectopic ACTH syndrome on either side of the Atlantic. These reviews will be interpreted. SummaryEctopic ACTH syndrome remains rare in endocrine practice, but its true incidence is likely to be much higher in patients whose presentation is dominated by the causative malignancy. The syndrome provides insights into the basic mechanisms governing POMC gene expression in a cell-type specific manner, and in development. The majority of causative tumours are thoracic, and are imaged by combined plain radiology, computed tomography and magnetic resonance scanning.","PeriodicalId":88857,"journal":{"name":"Current opinion in endocrinology & diabetes","volume":"13 1","pages":"237–241"},"PeriodicalIF":0.0,"publicationDate":"2006-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1097/01.med.0000224802.85953.37","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"61655592","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2006-06-01DOI: 10.1097/01.med.0000224812.46942.c3
J. Fourcroy
Purpose of reviewCurrent therapy and future drug development depend on an understanding of the developmental and regulatory history of androgenic anabolic steroids. After 1962, multiple regulatory changes altered the availability of many of these compounds and added the need to demonstrate both safety and efficacy for this class of drugs. The athletic community first recognized the anabolic effect of androgenic anabolic steroids and used a multitude of these compounds for ‘doping’. What followed was an illicit market and the development of new designer steroids designed to elude detection. Recent findingsToday any new designer steroid must demonstrate both safety and effectiveness for the intended use. Although new androgen formulations allow safer and more physiologic delivery, future development will allow tissue selective therapies, such as bone or muscle. One promising new area of development includes selective androgen receptor modulators. SummaryClinicians must understand the role of androgenic anabolic steroids in clinical practice to provide patient care. Future development of non-steroidal compounds – selective androgen receptor modulators – will perhaps provide safer and more effective therapy. The development of these new drugs must be watched.
{"title":"Designer steroids: past, present and future","authors":"J. Fourcroy","doi":"10.1097/01.med.0000224812.46942.c3","DOIUrl":"https://doi.org/10.1097/01.med.0000224812.46942.c3","url":null,"abstract":"Purpose of reviewCurrent therapy and future drug development depend on an understanding of the developmental and regulatory history of androgenic anabolic steroids. After 1962, multiple regulatory changes altered the availability of many of these compounds and added the need to demonstrate both safety and efficacy for this class of drugs. The athletic community first recognized the anabolic effect of androgenic anabolic steroids and used a multitude of these compounds for ‘doping’. What followed was an illicit market and the development of new designer steroids designed to elude detection. Recent findingsToday any new designer steroid must demonstrate both safety and effectiveness for the intended use. Although new androgen formulations allow safer and more physiologic delivery, future development will allow tissue selective therapies, such as bone or muscle. One promising new area of development includes selective androgen receptor modulators. SummaryClinicians must understand the role of androgenic anabolic steroids in clinical practice to provide patient care. Future development of non-steroidal compounds – selective androgen receptor modulators – will perhaps provide safer and more effective therapy. The development of these new drugs must be watched.","PeriodicalId":88857,"journal":{"name":"Current opinion in endocrinology & diabetes","volume":"13 1","pages":"306–309"},"PeriodicalIF":0.0,"publicationDate":"2006-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1097/01.med.0000224812.46942.c3","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"61655868","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2006-06-01DOI: 10.1097/01.med.0000224804.31695.23
A. Gawande, F. Moore
Purpose of reviewLaparoscopic adrenalectomy was introduced as an alternative, potentially less morbid technique for adrenalectomy some 10 years ago. As the procedure and its indications are now mature, a review of the advantages/disadvantages and indications of the technique will place its role in firm context. Recent findingsThe anticipated advantages for the patient of lessened postoperative morbidity have been realized, especially for those undergoing surgery for cortisol-producing adrenal tumors. Controversy remains as to whether the laparoscopic technique might represent a disadvantage for patients with pheochromocytoma or potential adrenocortical carcinoma, due to the limited ability to achieve wide resection margins with laparoscopy in every case. SummaryLaparoscopic adrenalectomy is the approach of choice in patients undergoing surgery for aldosteronoma, cortical-producing adenomas, adrenal cyst, and myelipoma. The approach should be considered carefully for patients with pheochromocytoma and adrenocortical trophic hormone-dependent adrenal hyperplasia. Laparoscopy is not recommended for suspected or known adrenal malignancies.
{"title":"Laparoscopic adrenalectomy","authors":"A. Gawande, F. Moore","doi":"10.1097/01.med.0000224804.31695.23","DOIUrl":"https://doi.org/10.1097/01.med.0000224804.31695.23","url":null,"abstract":"Purpose of reviewLaparoscopic adrenalectomy was introduced as an alternative, potentially less morbid technique for adrenalectomy some 10 years ago. As the procedure and its indications are now mature, a review of the advantages/disadvantages and indications of the technique will place its role in firm context. Recent findingsThe anticipated advantages for the patient of lessened postoperative morbidity have been realized, especially for those undergoing surgery for cortisol-producing adrenal tumors. Controversy remains as to whether the laparoscopic technique might represent a disadvantage for patients with pheochromocytoma or potential adrenocortical carcinoma, due to the limited ability to achieve wide resection margins with laparoscopy in every case. SummaryLaparoscopic adrenalectomy is the approach of choice in patients undergoing surgery for aldosteronoma, cortical-producing adenomas, adrenal cyst, and myelipoma. The approach should be considered carefully for patients with pheochromocytoma and adrenocortical trophic hormone-dependent adrenal hyperplasia. Laparoscopy is not recommended for suspected or known adrenal malignancies.","PeriodicalId":88857,"journal":{"name":"Current opinion in endocrinology & diabetes","volume":"21 1","pages":"248–253"},"PeriodicalIF":0.0,"publicationDate":"2006-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1097/01.med.0000224804.31695.23","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"61655663","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2006-06-01DOI: 10.1097/01.med.0000224809.62189.4b
M. Meriggiola, A. Costantino, S. Cerpolini, L. D'emidio, F. Armillotta, M. Berra, G. Pelusi
Purpose of reviewAt present, family planning still caters for a predominantly female clientele. The major reason for that is the shortcoming of currently available male contraceptives. Most recent clinical trials demonstrate that hormonal contraception may be feasible for men too. This chapter will discuss the efforts performed over the past decades to develop a male hormonal contraceptive analogous to the hormonal methods so successful in women, focusing in particular on the developments carried out in the last few years. Recent findingsLong-acting androgen–progestin regimens seem to be the best available choice to induce profound and reversible suppression of spermatogenesis in Caucasian men. Although more sensitive to the steroid suppressive effects on spermatogenesis, Chinese men may also benefit by the addition of a progestin to testosterone to obtain a regimen that provides optimal contraceptive protection. Larger efficacy studies are warranted to prove the efficacy and safety of these regimens. Recent surveys suggest that potential acceptability of new male hormonal contraceptives is high among both men and women. SummaryRecent studies have demonstrated that androgen–progestin regimens may represent optimal regimens for contraception in men. Effectiveness and safety of these regimens will have to be proved in large-scale, long-term trials that are currently being planned.
{"title":"Androgens and male contraception","authors":"M. Meriggiola, A. Costantino, S. Cerpolini, L. D'emidio, F. Armillotta, M. Berra, G. Pelusi","doi":"10.1097/01.med.0000224809.62189.4b","DOIUrl":"https://doi.org/10.1097/01.med.0000224809.62189.4b","url":null,"abstract":"Purpose of reviewAt present, family planning still caters for a predominantly female clientele. The major reason for that is the shortcoming of currently available male contraceptives. Most recent clinical trials demonstrate that hormonal contraception may be feasible for men too. This chapter will discuss the efforts performed over the past decades to develop a male hormonal contraceptive analogous to the hormonal methods so successful in women, focusing in particular on the developments carried out in the last few years. Recent findingsLong-acting androgen–progestin regimens seem to be the best available choice to induce profound and reversible suppression of spermatogenesis in Caucasian men. Although more sensitive to the steroid suppressive effects on spermatogenesis, Chinese men may also benefit by the addition of a progestin to testosterone to obtain a regimen that provides optimal contraceptive protection. Larger efficacy studies are warranted to prove the efficacy and safety of these regimens. Recent surveys suggest that potential acceptability of new male hormonal contraceptives is high among both men and women. SummaryRecent studies have demonstrated that androgen–progestin regimens may represent optimal regimens for contraception in men. Effectiveness and safety of these regimens will have to be proved in large-scale, long-term trials that are currently being planned.","PeriodicalId":88857,"journal":{"name":"Current opinion in endocrinology & diabetes","volume":"13 1","pages":"278–283"},"PeriodicalIF":0.0,"publicationDate":"2006-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1097/01.med.0000224809.62189.4b","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"61655806","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2006-06-01DOI: 10.1097/01.med.0000224808.54566.13
L. Marks, P. Nelson
Purpose of reviewIn aging men testosterone supplementation, or replacement therapy, is rapidly increasing. Herein we review classic and recent literature regarding the main safety issue: potential adverse effects on the prostate gland. Recent findingsThe advent of transdermal testosterone administration and increasing awareness of the ‘andropause’ syndrome have led to a dramatic upsurge in testosterone replacement therapy over the past decade. Prostatic hyperplasia and carcinoma are common in men who are candidates for treatment. Known or suspected carcinoma is an absolute contraindication to testosterone replacement therapy, but much prostate disease is undiagnosed. Data from testosterone replacement therapy trials and endogenous hormone studies appear to show only a theoretical safety concern, but a recent paper from the Baltimore Longitudinal Aging Study implicates free testosterone levels as a risk factor. Screening for prostate disease by symptoms, gland palpation, and prostate specific antigen testing are recommended before starting testosterone replacement therapy and at 3, 6, and 12-month intervals thereafter. SummaryCurrent data indicate that testosterone replacement therapy is being increasingly administered to aging men without apparent harm. A definitive safety trial, however, has not yet been performed. Pending that study, the responsible physician must be aware of the potential effects of testosterone on the prostate, especially as a promoter of carcinoma, and be knowledgeable about prostatic symptoms, digital rectal exam, and serum prostate specific antigen levels.
{"title":"Testosterone supplementation and the prostate: a review of the safety issue","authors":"L. Marks, P. Nelson","doi":"10.1097/01.med.0000224808.54566.13","DOIUrl":"https://doi.org/10.1097/01.med.0000224808.54566.13","url":null,"abstract":"Purpose of reviewIn aging men testosterone supplementation, or replacement therapy, is rapidly increasing. Herein we review classic and recent literature regarding the main safety issue: potential adverse effects on the prostate gland. Recent findingsThe advent of transdermal testosterone administration and increasing awareness of the ‘andropause’ syndrome have led to a dramatic upsurge in testosterone replacement therapy over the past decade. Prostatic hyperplasia and carcinoma are common in men who are candidates for treatment. Known or suspected carcinoma is an absolute contraindication to testosterone replacement therapy, but much prostate disease is undiagnosed. Data from testosterone replacement therapy trials and endogenous hormone studies appear to show only a theoretical safety concern, but a recent paper from the Baltimore Longitudinal Aging Study implicates free testosterone levels as a risk factor. Screening for prostate disease by symptoms, gland palpation, and prostate specific antigen testing are recommended before starting testosterone replacement therapy and at 3, 6, and 12-month intervals thereafter. SummaryCurrent data indicate that testosterone replacement therapy is being increasingly administered to aging men without apparent harm. A definitive safety trial, however, has not yet been performed. Pending that study, the responsible physician must be aware of the potential effects of testosterone on the prostate, especially as a promoter of carcinoma, and be knowledgeable about prostatic symptoms, digital rectal exam, and serum prostate specific antigen levels.","PeriodicalId":88857,"journal":{"name":"Current opinion in endocrinology & diabetes","volume":"13 1","pages":"272–277"},"PeriodicalIF":0.0,"publicationDate":"2006-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1097/01.med.0000224808.54566.13","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"61655757","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2006-06-01DOI: 10.1097/01.med.0000224803.24071.0b
C. Malchoff, D. Malchoff
Purpose of reviewThis review focuses on clinical syndromes of glucocorticoid resistance and hypersensitivity in humans. Recent findingsGlucocorticoid resistance and hypersensitivity syndromes can be categorized by mechanism into syndromes caused by glucocorticoid receptor (GR) gene mutations or polymorphisms, and syndromes caused by abnormal glucocorticoid metabolism. GR mutations cause generalized glucocorticoid resistance. More common GR polymorphisms are associated with phenotypic characteristics suggesting either mild resistance or hypersensitivity to glucocorticoid. Pharmaceutical inhibitors of the cytochrome P450 3A4 system such as ritonavir and itraconazole cause hypersensitivity to inhaled glucocorticoids. Enzymes controlling cortisol and cortisone interconversion are tissue specific. A deficiency of cortisone reductase (decreased conversion of cortisone to cortisol) in adipose tissue causes a glucocorticoid resistance syndrome, with the absence of Cushingoid features in a patient with Cushing's syndrome. A renal tubule deficiency in 11β-hydroxysteroid dehydrogenase type 2 (decreased conversion of cortisol to cortisone) causes hypertension and hypokalemia due to an apparent hypersensitivity to cortisol. SummaryGR and glucocorticoid metabolism abnormalities cause glucocorticoid resistance and hypersensitivity with diverse clinical presentations. Therapies are targeted to the specific mechanistic abnormalities.
{"title":"Clinical syndromes of glucocorticoid resistance and hypersensitivity","authors":"C. Malchoff, D. Malchoff","doi":"10.1097/01.med.0000224803.24071.0b","DOIUrl":"https://doi.org/10.1097/01.med.0000224803.24071.0b","url":null,"abstract":"Purpose of reviewThis review focuses on clinical syndromes of glucocorticoid resistance and hypersensitivity in humans. Recent findingsGlucocorticoid resistance and hypersensitivity syndromes can be categorized by mechanism into syndromes caused by glucocorticoid receptor (GR) gene mutations or polymorphisms, and syndromes caused by abnormal glucocorticoid metabolism. GR mutations cause generalized glucocorticoid resistance. More common GR polymorphisms are associated with phenotypic characteristics suggesting either mild resistance or hypersensitivity to glucocorticoid. Pharmaceutical inhibitors of the cytochrome P450 3A4 system such as ritonavir and itraconazole cause hypersensitivity to inhaled glucocorticoids. Enzymes controlling cortisol and cortisone interconversion are tissue specific. A deficiency of cortisone reductase (decreased conversion of cortisone to cortisol) in adipose tissue causes a glucocorticoid resistance syndrome, with the absence of Cushingoid features in a patient with Cushing's syndrome. A renal tubule deficiency in 11β-hydroxysteroid dehydrogenase type 2 (decreased conversion of cortisol to cortisone) causes hypertension and hypokalemia due to an apparent hypersensitivity to cortisol. SummaryGR and glucocorticoid metabolism abnormalities cause glucocorticoid resistance and hypersensitivity with diverse clinical presentations. Therapies are targeted to the specific mechanistic abnormalities.","PeriodicalId":88857,"journal":{"name":"Current opinion in endocrinology & diabetes","volume":"13 1","pages":"242–247"},"PeriodicalIF":0.0,"publicationDate":"2006-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1097/01.med.0000224803.24071.0b","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"61655642","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2003-06-01DOI: 10.1097/00060793-200306000-00006
T. Perlstein, E. Oestreicher, G. Adler
&NA; Recent work has demonstrated that aldosterone has important extra‐renal effects by which it can contribute to cardiovascular disease. This review discusses studies that have increased the understanding of the harmful effects of aldosterone on the cardiovascular system and have demonstrated broad benefits of mineralocorticoid receptor blockade in managing cardiovascular disease. By demonstrating protection with MR antagonism, animal and human studies show that MR activation contributes to cardiac damage, cerebrovascular disease, and nephropathy. Protection by MR antagonists can occur in the absence of blood pressure reductions and can occur in settings of low or normal plasma aldosterone levels or with concurrent ACE inhibition. Recently shown effects of aldosterone on myocytes, fibroblasts, and vascular endothelial cells may contribute to MR‐mediated cardiovascular damage. An early event in aldosterone‐mediated injury appears to be the development of vascular inflammation and dysfunction. Thus, an MR‐mediated vasculopathy likely represents an important mechanism underlying the widespread adverse effects of aldosterone on the cardiovascular system. There is new compelling basic and clinical data to suggest that aldosterone has extra‐renal actions, including pro‐inflammatory effects, which make it an important contributor to cardiovascular injury. We anticipate that future clinical trials will expand the indications for aldosterone blockade in the management of cardiovascular disease.
{"title":"Role for aldosterone in cardiovascular injury","authors":"T. Perlstein, E. Oestreicher, G. Adler","doi":"10.1097/00060793-200306000-00006","DOIUrl":"https://doi.org/10.1097/00060793-200306000-00006","url":null,"abstract":"&NA; Recent work has demonstrated that aldosterone has important extra‐renal effects by which it can contribute to cardiovascular disease. This review discusses studies that have increased the understanding of the harmful effects of aldosterone on the cardiovascular system and have demonstrated broad benefits of mineralocorticoid receptor blockade in managing cardiovascular disease. By demonstrating protection with MR antagonism, animal and human studies show that MR activation contributes to cardiac damage, cerebrovascular disease, and nephropathy. Protection by MR antagonists can occur in the absence of blood pressure reductions and can occur in settings of low or normal plasma aldosterone levels or with concurrent ACE inhibition. Recently shown effects of aldosterone on myocytes, fibroblasts, and vascular endothelial cells may contribute to MR‐mediated cardiovascular damage. An early event in aldosterone‐mediated injury appears to be the development of vascular inflammation and dysfunction. Thus, an MR‐mediated vasculopathy likely represents an important mechanism underlying the widespread adverse effects of aldosterone on the cardiovascular system. There is new compelling basic and clinical data to suggest that aldosterone has extra‐renal actions, including pro‐inflammatory effects, which make it an important contributor to cardiovascular injury. We anticipate that future clinical trials will expand the indications for aldosterone blockade in the management of cardiovascular disease.","PeriodicalId":88857,"journal":{"name":"Current opinion in endocrinology & diabetes","volume":"10 1","pages":"191–196"},"PeriodicalIF":0.0,"publicationDate":"2003-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1097/00060793-200306000-00006","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"61609913","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2003-06-01DOI: 10.1097/00060793-200306000-00004
W. Lui, T. Dwight
&NA; In cancer cells, chromosomal aberrations have been recognized as criteria for cancer, and specific genetic alterations are used in clinical practice for diagnostic, prognostic, and therapeutic purposes. Chromosomal aberrations include numerical alterations and structural alterations such as translocations, gene amplifications, deletions, and insertions. With the technical advances in molecular genetics and molecular cytogenetics, the literature focusing on multiple chromosomal alterations in different tumors has been expanding. Multicolor fluorescence in situ hybridization technologies, such as spectral karyotyping, have been used in combination with conventional G‐banding to examine chromosomal alterations in metaphases from cultured tumors and established cancer cell lines. However, in many instances metaphases are not available and karyotyping cannot be performed. In these instances, comparative genomic hybridization and array comparative genomic hybridization have been used on fresh‐frozen or paraffin‐embedded samples to determine genomic amplifications and deletions in tumors. In this review, we provide a brief overview of different cytogenetic techniques that are of use in localizing and identifying genes involved in endocrine tumor development.
{"title":"Impact of molecular cytogenetics on localization and identification of cancer‐related genes in endocrine tumor development","authors":"W. Lui, T. Dwight","doi":"10.1097/00060793-200306000-00004","DOIUrl":"https://doi.org/10.1097/00060793-200306000-00004","url":null,"abstract":"&NA; In cancer cells, chromosomal aberrations have been recognized as criteria for cancer, and specific genetic alterations are used in clinical practice for diagnostic, prognostic, and therapeutic purposes. Chromosomal aberrations include numerical alterations and structural alterations such as translocations, gene amplifications, deletions, and insertions. With the technical advances in molecular genetics and molecular cytogenetics, the literature focusing on multiple chromosomal alterations in different tumors has been expanding. Multicolor fluorescence in situ hybridization technologies, such as spectral karyotyping, have been used in combination with conventional G‐banding to examine chromosomal alterations in metaphases from cultured tumors and established cancer cell lines. However, in many instances metaphases are not available and karyotyping cannot be performed. In these instances, comparative genomic hybridization and array comparative genomic hybridization have been used on fresh‐frozen or paraffin‐embedded samples to determine genomic amplifications and deletions in tumors. In this review, we provide a brief overview of different cytogenetic techniques that are of use in localizing and identifying genes involved in endocrine tumor development.","PeriodicalId":88857,"journal":{"name":"Current opinion in endocrinology & diabetes","volume":"10 1","pages":"176–185"},"PeriodicalIF":0.0,"publicationDate":"2003-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1097/00060793-200306000-00004","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"61609845","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
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