Genetics and clinical characteristics of hereditary pheochromocytomas and paragangliomas.

Abstract:

:Pheochromocytomas (PCCs) and paragangliomas (PGLs) are rare neuroendocrine tumors of the adrenal glands and the sympathetic and parasympathetic paraganglia. They can occur sporadically or as a part of different hereditary tumor syndromes. About 30% of PCCs and PGLs are currently believed to be caused by germline mutations and several novel susceptibility genes have recently been discovered. The clinical presentation, including localization, malignant potential, and age of onset, varies depending on the genetic background of the tumors. By reviewing more than 1700 reported cases of hereditary PCC and PGL, a thorough summary of the genetics and clinical features of these tumors is given, both as part of the classical syndromes such as multiple endocrine neoplasia type 2 (MEN2), von Hippel-Lindau disease, neurofibromatosis type 1, and succinate dehydrogenase-related PCC-PGL and within syndromes associated with a smaller fraction of PCCs/PGLs, such as Carney triad, Carney-Stratakis syndrome, and MEN1. The review also covers the most recently discovered susceptibility genes including KIF1Bβ, EGLN1/PHD2, SDHAF2, TMEM127, SDHA, and MAX, as well as a comparison with the sporadic form. Further, the latest advances in elucidating the cellular pathways involved in PCC and PGL development are discussed in detail. Finally, an algorithm for genetic testing in patients with PCC and PGL is proposed.

journal_name

Endocr Relat Cancer

journal_title

Endocrine-related cancer

authors

Welander J,Söderkvist P,Gimm O

doi

10.1530/ERC-11-0170

subject

Has Abstract

pub_date

2011-12-01 00:00:00

pages

R253-76

issue

6

eissn

1351-0088

issn

1479-6821

pii

ERC-11-0170

journal_volume

18

pub_type

杂志文章,评审
  • Mouse models of transforming growth factor beta impact in breast development and cancer.

    abstract::It is now recognized that transforming growth factor beta (TGF-beta) is an important factor that regulates normal breast development as well as breast cancer. Genetically engineered mouse models have been used to determine the role and mechanism of TGF-beta action in normal development and diseases of the breast. Usin...

    journal_title:Endocrine-related cancer

    pub_type: 杂志文章,评审

    doi:10.1677/erc.1.00936

    authors: Serra R,Crowley MR

    更新日期:2005-12-01 00:00:00

  • 65 YEARS OF THE DOUBLE HELIX: Genetics informs precision practice in the diagnosis and management of pheochromocytoma.

    abstract::Although the authors of the present review have contributed to genetic discoveries in the field of pheochromocytoma research, we can legitimately ask whether these advances have led to improvements in the diagnosis and management of patients with pheochromocytoma. The answer to this question is an emphatic Yes! In the...

    journal_title:Endocrine-related cancer

    pub_type: 杂志文章,评审

    doi:10.1530/ERC-18-0085

    authors: Neumann HP,Young WF Jr,Krauss T,Bayley JP,Schiavi F,Opocher G,Boedeker CC,Tirosh A,Castinetti F,Ruf J,Beltsevich D,Walz M,Groeben HT,von Dobschuetz E,Gimm O,Wohllk N,Pfeifer M,Lourenço DM Jr,Peczkowska M,Patocs A,

    更新日期:2018-08-01 00:00:00

  • HEREDITARY ENDOCRINE TUMOURS: CURRENT STATE-OF-THE-ART AND RESEARCH OPPORTUNITIES: Early thyroidectomy in multiple endocrine neoplasia: a four decade experience.

    abstract::Forty years ago, physicians caring for the J-kindred, a 100+ member family with multiple endocrine neoplasia type 2A (MEN2A), hypothesized that early thyroidectomy based on measurement of the biomarker calcitonin could cure patients at risk for development of medullary thyroid carcinoma (MTC). We re-evaluated 22 famil...

    journal_title:Endocrine-related cancer

    pub_type: 杂志文章

    doi:10.1530/ERC-20-0108

    authors: Grubbs EG,Lechan RM,Edeiken-Monroe B,Cote GJ,Trotter C,Tischler AS,Gagel RF

    更新日期:2020-08-01 00:00:00

  • Support of a bi-faceted role of estrogen receptor β (ERβ) in ERα-positive breast cancer cells.

    abstract::The expression of estrogen receptor α (ERα) in breast cancer identifies patients most likely to respond to endocrine treatment. The second ER, ERβ, is also expressed in breast tumors, but its function and therapeutic potential need further study. Although in vitro studies have established that ERβ opposes transcriptio...

    journal_title:Endocrine-related cancer

    pub_type: 杂志文章

    doi:10.1530/ERC-13-0444

    authors: Jonsson P,Katchy A,Williams C

    更新日期:2014-01-30 00:00:00

  • Inhibition of Notch signaling attenuates pituitary adenoma growth in Nude mice.

    abstract::Preclinical and clinical studies support that Notch signaling may play an important oncogenic role in cancer, but there is scarce information for pituitary tumors. We therefore undertook a functional study to evaluate Notch participation in pituitary adenoma growth. Tumors generated in Nude mice by subcutaneous GH3 so...

    journal_title:Endocrine-related cancer

    pub_type: 杂志文章

    doi:10.1530/ERC-18-0337

    authors: Zubeldía-Brenner L,De Winne C,Perrone S,Rodríguez-Seguí SA,Willems C,Ornstein AM,Lacau-Mengido I,Vankelecom H,Cristina C,Becu-Villalobos D

    更新日期:2019-01-01 00:00:00

  • Identification of occult tumors by whole-specimen mapping in solitary papillary thyroid carcinoma.

    abstract::We undertook this study to estimate an accurate incidence and spread patterns of occult papillary thyroid carcinoma (PTC) in patients with a preoperative diagnosis of solitary PTC by using whole-specimen mapping of all specimens after a total thyroidectomy. Enrolled prospectively in this whole-thyroid mapping study ar...

    journal_title:Endocrine-related cancer

    pub_type: 杂志文章

    doi:10.1530/ERC-15-0152

    authors: Park SY,Jung YS,Ryu CH,Lee CY,Lee YJ,Lee EK,Kim SK,Kim TS,Kim TH,Jang J,Park D,Dong SM,Kang JG,Lee JS,Ryu J

    更新日期:2015-08-01 00:00:00

  • The ubiquitin-proteasome system: opportunities for therapeutic intervention in solid tumors.

    abstract::The destruction of proteins via the ubiquitin-proteasome system is a multi-step, complex process involving polyubiquitination of substrate proteins, followed by proteolytic degradation by the macromolecular 26S proteasome complex. Inhibitors of the proteasome promote the accumulation of proteins that are deleterious t...

    journal_title:Endocrine-related cancer

    pub_type: 杂志文章,评审

    doi:10.1530/ERC-14-0005

    authors: Johnson DE

    更新日期:2015-02-01 00:00:00

  • Hyperplasia-adenoma sequence in pituitary tumorigenesis related to aryl hydrocarbon receptor interacting protein gene mutation.

    abstract::Mutations of the aryl hydrocarbon receptor interacting protein (AIP) gene are associated with pituitary adenomas that usually occur as familial isolated pituitary adenomas (FIPA). Detailed pathological and tumor genetic data on AIP mutation-related pituitary adenomas are not sufficient. Non-identical twin females pres...

    journal_title:Endocrine-related cancer

    pub_type: 杂志文章

    doi:10.1530/ERC-11-0059

    authors: Villa C,Lagonigro MS,Magri F,Koziak M,Jaffrain-Rea ML,Brauner R,Bouligand J,Junier MP,Di Rocco F,Sainte-Rose C,Beckers A,Roux FX,Daly AF,Chiovato L

    更新日期:2011-06-08 00:00:00

  • Overexpression and activation of EGFR and VEGFR2 in medullary thyroid carcinomas is related to metastasis.

    abstract::Therapeutic options for patients with metastatic medullary thyroid carcinoma (MTC) are limited due to lack of effective treatments. Thus, there is a need to thoroughly characterize the pathways of molecular pathogenesis and to identify potential targets for therapy in MTC. Since epidermal growth factor receptor (EGFR)...

    journal_title:Endocrine-related cancer

    pub_type: 杂志文章

    doi:10.1677/ERC-08-0304

    authors: Rodríguez-Antona C,Pallares J,Montero-Conde C,Inglada-Pérez L,Castelblanco E,Landa I,Leskelä S,Leandro-García LJ,López-Jiménez E,Letón R,Cascón A,Lerma E,Martin MC,Carralero MC,Mauricio D,Cigudosa JC,Matias-Guiu X,Roble

    更新日期:2010-01-29 00:00:00

  • Perspectives for immunotherapy in endocrine cancer.

    abstract::The fight against cancer has seen major breakthroughs in recent years. More than a decade ago, tyrosine kinase inhibitors targeting constitutively activated signaling cascades within the tumor inaugurated a new era of oncological therapy. Recently, immunotherapy with immune checkpoint inhibitors has started to revolut...

    journal_title:Endocrine-related cancer

    pub_type: 杂志文章,评审

    doi:10.1530/ERC-16-0169

    authors: Latteyer S,Tiedje V,Schilling B,Führer D

    更新日期:2016-10-01 00:00:00

  • FOXO factors and breast cancer: outfoxing endocrine resistance.

    abstract::The majority of metastatic breast cancers cannot be cured and present a major public health problem worldwide. Approximately 70% of breast cancers express the estrogen receptor, and endocrine-based therapies have significantly improved patient outcomes. However, the development of endocrine resistance is extremely com...

    journal_title:Endocrine-related cancer

    pub_type: 杂志文章,评审

    doi:10.1530/ERC-15-0461

    authors: Bullock M

    更新日期:2016-02-01 00:00:00

  • Advances in paraganglioma-pheochromocytoma cell lines and xenografts.

    abstract::This review describes human and rodent-derived cell lines and xenografts developed over the last five decades that are suitable or potentially suitable models for paraganglioma-pheochromocytoma research. We outline the strengths and weaknesses of various models and emphasize the recurring theme that, despite the major...

    journal_title:Endocrine-related cancer

    pub_type: 杂志文章,评审

    doi:10.1530/ERC-19-0434

    authors: Bayley JP,Devilee P

    更新日期:2020-12-01 00:00:00

  • Trp63 is regulated by STAT5 in mammary tissue and subject to differentiation in cancer.

    abstract::Transformation-related protein 63 (Trp63), the predominant member of the Trp53 family, contributes to epithelial differentiation and is expressed in breast neoplasia. Trp63 features two distinct promoters yielding specific mRNAs encoding two major TRP63 isoforms, a transactivating transcription factor and a dominant n...

    journal_title:Endocrine-related cancer

    pub_type: 杂志文章

    doi:10.1530/ERC-14-0032

    authors: Assefnia S,Kang K,Groeneveld S,Yamaji D,Dabydeen S,Alamri A,Liu X,Hennighausen L,Furth PA

    更新日期:2014-05-06 00:00:00

  • Role of biomarkers in predicting the occurrence of thyroid neoplasms in radiation-exposed children.

    abstract::With increasing numbers of childhood cancer survivors who were treated with radiation, there is a need to evaluate potential biomarkers that could signal an increased risk of developing thyroid cancer. We aimed to examine the relationships between thyrotropin and thyroglobulin levels and the risk of developing thyroid...

    journal_title:Endocrine-related cancer

    pub_type: 杂志文章

    doi:10.1530/ERC-17-0408

    authors: Shulan JM,Vydro L,Schneider AB,Mihailescu DV

    更新日期:2018-04-01 00:00:00

  • Role of exon-16-deleted HER2 in breast carcinomas.

    abstract::A splice variant of the human gene HER2, lacking exon-16 (DeltaHER2) which encodes a small extracellular region, has been described. This altered receptor forms disulfide bond-stabilized homodimers. We report here that the DeltaHER2 splice variant represents about 9% of the HER2 mRNA obtained from most of the 46 breas...

    journal_title:Endocrine-related cancer

    pub_type: 杂志文章

    doi:10.1677/erc.1.01047

    authors: Castiglioni F,Tagliabue E,Campiglio M,Pupa SM,Balsari A,Ménard S

    更新日期:2006-03-01 00:00:00

  • The molecular genetic make-up of male breast cancer.

    abstract::Male breast cancer (MBC) is extremely rare and accounts for less than 1% of all breast malignancies. Therefore, clinical management of MBC is currently guided by research on the disease in females. In this study, DNA obtained from 45 formalin-fixed paraffin-embedded (FFPE) MBCs with and 90 MBCs (52 FFPE and 38 fresh-f...

    journal_title:Endocrine-related cancer

    pub_type: 杂志文章

    doi:10.1530/ERC-19-0278

    authors: Moelans CB,de Ligt J,van der Groep P,Prins P,Besselink NJM,Hoogstraat M,Ter Hoeve ND,Lacle MM,Kornegoor R,van der Pol CC,de Leng WWJ,Barbé E,van der Vegt B,Martens J,Bult P,Smit VTHBM,Koudijs MJ,Nijman IJ,Voest EE,S

    更新日期:2019-10-01 00:00:00

  • The natural history and treatment of non-functioning pituitary adenomas (non-functioning PitNETs).

    abstract::Non-functioning pituitary adenomas, recently alternatively termed pituitary neuroendocrine tumours (NFpitNETs), are mostly benign neoplasms that are not associated with a hormonal hypersecretory syndrome. The clinical spectrum of NFpitNETs varies from completely asymptomatic to the development of panhypopituitarism an...

    journal_title:Endocrine-related cancer

    pub_type: 杂志文章,评审

    doi:10.1530/ERC-20-0136

    authors: Yavropoulou MP,Tsoli M,Barkas K,Kaltsas G,Grossman A

    更新日期:2020-10-01 00:00:00

  • Peroxisome proliferator-activated receptor gamma and BRCA1.

    abstract::Peroxisome proliferator-activated receptor gamma agonists have been proposed as breast cancer preventives. Individuals who carry a mutated copy of BRCA1, DNA repair-associated gene, are at increased risk for development of breast cancer. Published data in the field suggest there could be interactions between peroxisom...

    journal_title:Endocrine-related cancer

    pub_type: 杂志文章,评审

    doi:10.1530/ERC-18-0449

    authors: Furth PA

    更新日期:2019-02-01 00:00:00

  • SAHA-induced loss of tumor suppressor Pten gene promotes thyroid carcinogenesis in a mouse model.

    abstract::Thyroid cancer is on the rise. Novel approaches are needed to improve the outcome of patients with recurrent and advanced metastatic thyroid cancers. FDA approval of suberoylanilide hydroxamic acid (SAHA; vorinostat), an inhibitor of histone deacetylase, for the treatment of hematological malignancies led to the clini...

    journal_title:Endocrine-related cancer

    pub_type: 杂志文章

    doi:10.1530/ERC-16-0103

    authors: Zhu X,Kim DW,Zhao L,Willingham MC,Cheng SY

    更新日期:2016-07-01 00:00:00

  • Metabolic profiling of cholesterol and sex steroid hormones to monitor urological diseases.

    abstract::Cholesterol and sex steroid hormones including androgens and estrogens play a critical role in the development and progression of urological diseases such as prostate cancer. This disease remains the most commonly diagnosed malignant tumor in men and is the leading cause of death from different cancers. Attempts to un...

    journal_title:Endocrine-related cancer

    pub_type: 杂志文章,评审

    doi:10.1530/ERC-16-0285

    authors: Moon JY,Choi MH,Kim J

    更新日期:2016-10-01 00:00:00

  • Effect of low doses of estradiol and tamoxifen on breast cancer cell karyotypes.

    abstract::Evidence supports a role of 17&-estradiol (E2) in carcinogenesis and the large majority of breast carcinomas are dependent on estrogen. The anti-estrogen tamoxifen (TAM) is widely used for both treatment and prevention of breast cancer; however, it is also carcinogenic in human uterus and rat liver, highlighting the p...

    journal_title:Endocrine-related cancer

    pub_type: 杂志文章

    doi:10.1530/ERC-16-0078

    authors: Rondón-Lagos M,Rangel N,Di Cantogno LV,Annaratone L,Castellano I,Russo R,Manetta T,Marchiò C,Sapino A

    更新日期:2016-08-01 00:00:00

  • Apoptosis in breast cancer: relationship with other pathological parameters.

    abstract::Apoptosis is a frequent phenomenon in breast cancer and it can be detected by light microscopy in conventional histopathological sections or by special staining techniques. The number of apoptotic cells as a percentage of cells present, or the number of apoptotic cells per square millimetre of neoplastic tissue, is us...

    journal_title:Endocrine-related cancer

    pub_type: 杂志文章,评审

    doi:10.1677/erc.0.0060013

    authors: Lipponen P

    更新日期:1999-03-01 00:00:00

  • Uncontrolled insulin secretion from a childhood pancreatic beta-cell adenoma is not due to the functional loss of ATP-sensitive potassium channels.

    abstract::We report the case of an 8-year-old child who presented with severe hyperinsulinaemic hypoglycaemia due to a pancreatic islet cell adenoma. In vivo, there was no beneficial response to the hyperglycaemia-inducing agent diazoxide and as a consequence the child underwent a subtotal pancreatectomy. In vitro studies of ad...

    journal_title:Endocrine-related cancer

    pub_type: 杂志文章

    doi:10.1677/erc.0.0090221

    authors: Hussain K,Cosgrove KE,Shepherd RM,Chapman JC,Swift SM,Smith VV,Kassem SA,Glaser B,Lindley KJ,Aynsley-Green A,Dunne MJ

    更新日期:2002-12-01 00:00:00

  • Pituitary tumors contain a side population with tumor stem cell-associated characteristics.

    abstract::Pituitary adenomas cause significant endocrine and mass-related morbidity. Little is known about the mechanisms that underlie pituitary tumor pathogenesis. In the present study, we searched for a side population (SP) in pituitary tumors representing cells with high efflux capacity and potentially enriched for tumor st...

    journal_title:Endocrine-related cancer

    pub_type: 杂志文章

    doi:10.1530/ERC-14-0546

    authors: Mertens F,Gremeaux L,Chen J,Fu Q,Willems C,Roose H,Govaere O,Roskams T,Cristina C,Becú-Villalobos D,Jorissen M,Poorten VV,Bex M,van Loon J,Vankelecom H

    更新日期:2015-08-01 00:00:00

  • Y-box binding protein-1 promotes castration-resistant prostate cancer growth via androgen receptor expression.

    abstract::The androgen receptor (AR) is well known to play a central role in the pathogenesis of prostate cancer (PCa). In several studies, AR was overexpressed in castration-resistant PCa (CRPC). However, the mechanism of AR overexpression in CRPC is not fully elucidated. Y-box binding protein-1 (YB-1) is a pleiotropic transcr...

    journal_title:Endocrine-related cancer

    pub_type: 杂志文章

    doi:10.1530/ERC-11-0017

    authors: Shiota M,Takeuchi A,Song Y,Yokomizo A,Kashiwagi E,Uchiumi T,Kuroiwa K,Tatsugami K,Fujimoto N,Oda Y,Naito S

    更新日期:2011-07-11 00:00:00

  • MAPK and SHH pathways modulate type 3 deiodinase expression in papillary thyroid carcinoma.

    abstract::Type 3 deiodinase (DIO3, D3) is reactivated in human neoplasias. Increased D3 levels in papillary thyroid carcinoma (PTC) have been associated with tumor size and metastatic disease. The objective of this study is to investigate the signaling pathways involved in DIO3 upregulation in PTC. Experiments were performed in...

    journal_title:Endocrine-related cancer

    pub_type: 杂志文章

    doi:10.1530/ERC-15-0162

    authors: Romitti M,Wajner SM,Ceolin L,Ferreira CV,Ribeiro RV,Rohenkohl HC,Weber Sde S,Lopez PL,Fuziwara CS,Kimura ET,Maia AL

    更新日期:2016-03-01 00:00:00

  • Management of carcinoid syndrome: a systematic review and meta-analysis.

    abstract::Carcinoid syndrome (CS) is a debilitating disease caused by functional neuroendocrine tumors. Several treatment options are available to alleviate the hormonal symptoms, but their relative efficacy is unknown. Online databases were searched for publications on the treatment of CS symptoms. Independent reviewers assess...

    journal_title:Endocrine-related cancer

    pub_type: 杂志文章,meta分析

    doi:10.1530/ERC-18-0495

    authors: Hofland J,Herrera-Martínez AD,Zandee WT,de Herder WW

    更新日期:2019-03-01 00:00:00

  • Resistance to chemotherapy and hormone therapy in endometrial cancer.

    abstract::Endometrial cancer is the most common gynecological malignancy in developed countries and represents the eighth leading cause of cancer related death in women. The growing incidence of endometrial cancer leads scientists and oncologists to identify effective preventive measures and also molecular markers for diagnosis...

    journal_title:Endocrine-related cancer

    pub_type: 杂志文章,评审

    doi:10.1677/ERC-08-0266

    authors: Chaudhry P,Asselin E

    更新日期:2009-06-01 00:00:00

  • miR-205 targets angiogenesis and EMT concurrently in anaplastic thyroid carcinoma.

    abstract::The current study aims to evaluate for the first time the inhibitory roles of miR-205 in the pathogenesis of anaplastic thyroid carcinoma. In addition, we investigated the mechanisms by which miR-205 regulates angiogenesis and epithelial-to-mesenchymal transition (EMT) in cancer. Two anaplastic thyroid carcinoma cell ...

    journal_title:Endocrine-related cancer

    pub_type: 杂志文章

    doi:10.1530/ERC-17-0497

    authors: Vosgha H,Ariana A,Smith RA,Lam AK

    更新日期:2018-03-01 00:00:00

  • The anti-oestrogen ICI 182,780, but not tamoxifen, inhibits the growth of MCF-7 breast cancer cells refractory to long-term oestrogen deprivation through down-regulation of oestrogen receptor and IGF signalling.

    abstract::Long-term culture of MCF-7 wild-type (wt) cells in steroid-depleted medium (LTED) results in hypersensitivity to oestradiol (E2) coinciding with elevated levels of ERalpha and enhanced growth factor signalling. In this study, we aimed to compare the effects of the pure anti-oestrogen ICI 182,780 (ICI) with the competi...

    journal_title:Endocrine-related cancer

    pub_type: 杂志文章

    doi:10.1677/erc.1.00905

    authors: Martin LA,Pancholi S,Chan CM,Farmer I,Kimberley C,Dowsett M,Johnston SR

    更新日期:2005-12-01 00:00:00