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Pheochromocytoma and extra-adrenal

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https://www.readbyqxmd.com/read/28515046/kif1b-and-nf1-are-the-most-frequently-mutated-genes-in-paraganglioma-tumors
#1
Lucie Evenepoel, Raphaël Helaers, Laurent Vroonen, Selda Aydin, Marc Hamoir, Dominique Maiter, Miikka Vikkula, Alexandre Persu
Dear Editor, Pheochromocytomas and paragangliomas (PPGL) are rare neuroendocrine tumors arising from the adrenal medulla and extra-adrenal paraganglia, respectively. Forty percent are explained by germline mutations in known susceptibility genes. Furthermore, somatic mutations were identified in an additional 30% of PPGL, mostly in NF1, RET, VHL, MAX, and HRAS. However, screening is limited to a few studies mainly using Sanger sequencing (Burnichon, et al. 2012; Burnichon, et al. 2011; Crona, et al. 2013; Luchetti, et al...
May 17, 2017: Endocrine-related Cancer
https://www.readbyqxmd.com/read/28503760/the-penetrance-of-paraganglioma-and-pheochromocytoma-in-sdhb-germline-mutation-carriers
#2
Johannes A Rijken, Nicolasine D Niemeijer, Marianne A Jonker, Karin Eijkelenkamp, Jeroen C Jansen, Anouk van Berkel, Henri J L M Timmers, Henricus P M Kunst, Peter H L T Bisschop, Michiel N Kerstens, Koen M A Dreijerink, Marieke F van Dooren, Anouk N A van der Horst-Schrivers, Frederik J Hes, C René Leemans, Eleonora P M Corssmit, Erik F Hensen
Germline mutations in SDHB predispose to hereditary paraganglioma syndrome type 4. The risk of developing paraganglioma (PGL) or pheochromocytoma (PHEO) in SDHB mutation carriers is subject of recent debate. In the present nationwide cohort study of SDHB mutation carriers identified by the clinical genetics centers of the Netherlands, we have calculated the penetrance of SDHB associated tumors using a novel maximum likelihood estimator. This estimator addresses ascertainment bias and missing data on pedigree size and structure...
May 14, 2017: Clinical Genetics
https://www.readbyqxmd.com/read/28491185/extra-adrenal-pheochromocytoma-at-the-organ-of-zuckerkandl-a-case-report-and-literature-review
#3
Tarana Gill, Kalie Adler, Alicia Schrader, Keyur Desai, Joshua Wermers, Nebiyu Beteselassie
Pheochromocytomas and paragangliomas are tumors that occur in characteristic locations and are commonly detected on imaging studies. A correct diagnosis is important because of differences in associated neoplasms, risk for malignancy, and need for genetic testing. In addition, associated complications, including death, can be avoided if appropriately recognized and treated. Here, we report a rare case of an extra-adrenal paraganglioma of the organ of Zuckerkandl.
June 2017: Radiology case reports
https://www.readbyqxmd.com/read/28481789/comparison-of-the-68ga-dotatata-pet-ct-fdg-pet-ct-and-mibg-spect-ct-in-the-evaluation-of-suspected-primary-pheochromocytomas-and-paragangliomas
#4
Hongli Jing, Fang Li, Ling Wang, Zhenghua Wang, Wei Li, Li Huo, Jingjing Zhang
Anatomical imaging modalities including CT and MRI are the mainstay of evaluation of primary pheochromocytoma or paraganglioma. However, nuclear medicine imaging is frequently necessary to determine the nature of the lesions. The purpose of this investigation is to assess which commonly used nuclear medicine modality might have a better diagnostic value in this clinical setting. METHODS: Eight patients who had been suspected of having either primary pheochromocytoma or primary paraganglioma and 1 patient with known pheochromocytoma were included in the analysis...
May 6, 2017: Clinical Nuclear Medicine
https://www.readbyqxmd.com/read/28477311/update-on-adrenal-tumours-in-2017-world-health-organization-who-of-endocrine-tumours
#5
REVIEW
Alfred King-Yin Lam
The fourth edition of the World Health Organization (WHO) classification of endocrine tumours contains substantial new findings for the adrenal tumours. The tumours are presented in two chapters labelled as "Tumours of the adrenal cortex" and "Tumours of the adrenal medulla and extra-adrenal paraganglia." Tumours of the adrenal cortex are classified as cortical carcinoma, cortical adenoma, sex cord stromal tumours, adenomatoid tumour, mesenchymal and stromal tumours (myelolipoma and schwannoma), haematological tumours, and secondary tumours...
May 6, 2017: Endocrine Pathology
https://www.readbyqxmd.com/read/28458869/an-unusual-cause-of-back-pain-a-case-of-large-nonfunctioning-retroperitoneal-paraganglioma-presented-as-a-large-cystic-lesion-a-case-report-and-review-of-literature
#6
Siu Yan Amy Kok, Chung Ying Leung, Ki Yau Chow
Pheochromocytoma arising from outside the adrenal glands is also called paraganglioma. When it occurs below the diaphragm, in the organ of Zuckerkandl or retroperitoneum, it is also called extra-adrenal pheochromocytoma. Paragangliomas are rare tumors which arise from neuroendocrine cells and extra-adrenal paragangliomas (EAPs) account for only 10-15% if all paragangliomas and may present incidentally as a symptomless mass. Typical triad of sweating, headache and fluctuating hypertension if not present makes preoperative diagnosis difficult...
April 2017: Journal of Surgical Case Reports
https://www.readbyqxmd.com/read/28423608/anthracyclines-suppress-pheochromocytoma-cell-characteristics-including-metastasis-through-inhibition-of-the-hypoxia-signaling-pathway
#7
Ying Pang, Chunzhang Yang, Jan Schovanek, Herui Wang, Petra Bullova, Veronika Caisova, Garima Gupta, Katherine I Wolf, Gregg L Semenza, Zhengping Zhuang, Karel Pacak
Pheochromocytomas (PHEOs) and paragangliomas (PGLs) are rare, neuroendocrine tumors derived from adrenal or extra-adrenal chromaffin cells, respectively. Metastases are discovered in 3-36% of patients at the time of diagnosis. Currently, only suboptimal treatment options exist. Therefore, new therapeutic compounds targeting metastatic PHEOs/PGLs are urgently needed. Here, we investigated if anthracyclines were able to suppress the progression of metastatic PHEO. We explored their effects on experimental mouse PHEO tumor cells using in vitro and in vivo models, and demonstrated that anthracyclines, particularly idarubicin (IDA), suppressed hypoxia signaling by preventing the binding of hypoxia-inducible factor 1 and 2 (HIF-1 and HIF-2) to the hypoxia response element (HRE) sites on DNA...
April 4, 2017: Oncotarget
https://www.readbyqxmd.com/read/28414676/pheochromocytoma-of-the-organ-zuckerkandl
#8
C Lee, E Chang, J Gimenez, R McCarron
INTRODUCTION: Pheochromocytomas (PCCs);, or intra-adrenal paragangliomas (PGLs);, are neuroendocrine tumors arising within the adrenal medulla. Extra-adrenal paragangliomas may arise in the sympathetic or parasympathetic paraganglia and more rarely in other organs. One of the most common extra-adrenal sites is in the organ of Zuckerkandl, a collection of chromaffin cells near the origin of the inferior mesenteric artery or near the aortic bifurcation. The following is a case of a patient with resistant hypertension secondary to an extra-adrenal paraganglioma in the organ of Zuckerkandl...
March 2017: Journal of the Louisiana State Medical Society: Official Organ of the Louisiana State Medical Society
https://www.readbyqxmd.com/read/28413667/paraganglioma-of-the-bladder-in-a-kidney-transplant-recipient-a-case-report
#9
Hélène Lazareth, Daniel Cohen, Viorel Vasiliu, Claire Tinel, Frank Martinez, Jean-Pierre Grünfeld, Marie-France Mamzer, Christophe Legendre, Rebecca Sberro-Soussan
Renal transplantation has been associated with a significantly increased risk of developing cancer, including bladder neoplasia, with urothelial carcinoma being the most frequent type of bladder cancer. Bladder paraganglioma, also referred to as extra-adrenal pheochromocytoma, is a rare but severe condition that may cause a severe hypertensive crisis during handling and mobilization of the tumor. We herein present the case of a 67-year-old kidney transplant recipient with a bladder polyp consistent with paraganglioma of the bladder...
April 2017: Molecular and Clinical Oncology
https://www.readbyqxmd.com/read/28384794/clinical-characterization-of-the-pheochromocytoma-and-paraganglioma-susceptibility-genes-sdha-tmem127-max-and-sdhaf2-for-gene-informed-prevention
#10
Birke Bausch, Francesca Schiavi, Ying Ni, Jenny Welander, Attila Patocs, Joanne Ngeow, Ulrich Wellner, Angelica Malinoc, Elisa Taschin, Giovanni Barbon, Virginia Lanza, Peter Söderkvist, Adam Stenman, Catharina Larsson, Fredrika Svahn, Jin-Lian Chen, Jessica Marquard, Merav Fraenkel, Martin A Walter, Mariola Peczkowska, Aleksander Prejbisz, Barbara Jarzab, Kornelia Hasse-Lazar, Stephan Petersenn, Lars C Moeller, Almuth Meyer, Nicole Reisch, Arnold Trupka, Christoph Brase, Matthias Galiano, Simon F Preuss, Pingling Kwok, Nikoletta Lendvai, Gani Berisha, Özer Makay, Carsten C Boedeker, Georges Weryha, Karoly Racz, Andrzej Januszewicz, Martin K Walz, Oliver Gimm, Giuseppe Opocher, Charis Eng, Hartmut P H Neumann
Importance: Effective cancer prevention is based on accurate molecular diagnosis and results of genetic family screening, genotype-informed risk assessment, and tailored strategies for early diagnosis. The expanding etiology for hereditary pheochromocytomas and paragangliomas has recently included SDHA, TMEM127, MAX, and SDHAF2 as susceptibility genes. Clinical management guidelines for patients with germline mutations in these 4 newly included genes are lacking. Objective: To study the clinical spectra and age-related penetrance of individuals with mutations in the SDHA, TMEM127, MAX, and SDHAF2 genes...
April 6, 2017: JAMA Oncology
https://www.readbyqxmd.com/read/28327598/global-dna-methylation-analysis-identifies-two-discrete-clusters-of-pheochromocytoma-with-distinct-genomic-and-genetic-alterations
#11
Samuel Backman, Rajani Maharjan, Alberto Falk-Delgado, Joakim Crona, Kenko Cupisti, Peter Stålberg, Per Hellman, Peyman Björklund
Pheochromocytomas and paragangliomas (PPGLs) are rare and frequently heritable neural-crest derived tumours arising from the adrenal medulla or extra-adrenal chromaffin cells respectively. The majority of PPGL tumours are benign and do not recur with distant metastases. However, a sizeable fraction of these tumours secrete vasoactive catecholamines into the circulation causing a variety of symptoms including hypertension, palpitations and diaphoresis. The genetic landscape of PPGL has been well characterized and more than a dozen genes have been described as recurrently mutated...
March 22, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28324046/characteristics-of-pediatric-vs-adult-pheochromocytomas-and-paragangliomas
#12
MULTICENTER STUDY
Christina Pamporaki, Barbora Hamplova, Mirko Peitzsch, Aleksander Prejbisz, Felix Beuschlein, Henri J L M Timmers, Martin Fassnacht, Barbara Klink, Maya Lodish, Constantine A Stratakis, Angela Huebner, Stephanie Fliedner, Mercedes Robledo, Richard O Sinnott, Andrzej Januszewicz, Karel Pacak, Graeme Eisenhofer
Context: Pheochromocytomas and paragangliomas (PPGLs) in children are often hereditary and may present with different characteristics compared with adults. Hereditary PPGLs can be separated into cluster 1 and cluster 2 tumors due to mutations impacting hypoxia and kinase receptor signaling pathways, respectively. Objective: To identify differences in presentation of PPGLs between children and adults. Design: A retrospective cross-sectional clinical study...
April 1, 2017: Journal of Clinical Endocrinology and Metabolism
https://www.readbyqxmd.com/read/28291009/a-family-with-von-hippel-lindau-syndrome-the-findings-of-indium-111-somatostatin-receptor-scintigraphy-iodine-123-metaiodobenzylguanidine-scintigraphy-and-single-photon-emission-computerized-tomography
#13
Pelin Arıcan, Berna Okudan Tekin, Seniha Naldöken, Rıza Şefizade, Dilek Berker
Von Hippel-Lindau syndrome (VHLS) is an autosomal dominant hereditary familial disorder characterized by development of malignant and benign neoplasms. Differential diagnosis of the adrenal and pancreatic masses are difficult in patients with VHLS. Iodine-123 metaiodobenzylguanidine (I-123 MIBG) and indium-111 somatostatin receptor scintigraphies (In-111 SRS) have important roles in the differential diagnosis of adrenal and pancreatic masses in those patients. In this case report, we present the findings of I-123 MIBG single-photon emission computerized tomography (SPECT/CT) and In-111 SRS SPECT/CT in three members of a family with VHLS...
February 5, 2017: Molecular Imaging and Radionuclide Therapy
https://www.readbyqxmd.com/read/28231563/hypoxia-pathway-mutations-in-pheochromocytomas-and-paragangliomas
#14
REVIEW
Diana Amorim-Pires, Joana Peixoto, Jorge Lima
Pheochromocytomas (PCC) and sympathetic paragangliomas (PGL) are rare neuroendocrine tumors, which derive from chromaffin cells occurring in the adrenal medulla and extra-adrenal sympathetic paraganglia. PCC and PGL are often benign, catecholamine-producing tumors, responsible for a myriad of symptoms that may be potentially hazardous to the patient. In contrast, nonsecreting parasympathetic PGL, derived from chief cells, develop mainly in the head and neck region. Although PCC/PGL are more commonly sporadic tumors, germline mutations are present in up to 40% of the patients, ranking these tumors among those with the highest degree of heritability...
2016: Cytogenetic and Genome Research
https://www.readbyqxmd.com/read/28197344/from-bad-to-worse-paraganglioma-diagnosis-during-induction-of-labor-for-coexisting-preeclampsia
#15
Sasima Dusitkasem, Blair H Herndon, Dalton Paluzzi, Joseph Kuhn, Robert H Small, John C Coffman
Pheochromocytomas and extra-adrenal paragangliomas are catecholamine-secreting tumors that rarely occur in pregnancy. The diagnosis of these tumors in pregnancy can be challenging given that many of the signs and symptoms are commonly attributed to preeclampsia or other more common diagnoses. Early diagnosis and appropriate management are essential in optimizing maternal and fetal outcomes. We report a rare case of a catecholamine-secreting tumor in which diagnosis occurring at the time labor was being induced for concomitant preeclampsia with severe features...
2017: Case Reports in Anesthesiology
https://www.readbyqxmd.com/read/28187001/molecular-markers-of-paragangliomas-pheochromocytomas
#16
REVIEW
Svetlana O Zhikrivetskaya, Anastasiya V Snezhkina, Andrew R Zaretsky, Boris Y Alekseev, Anatoly V Pokrovsky, Alexander L Golovyuk, Nataliya V Melnikova, Oleg A Stepanov, Dmitry V Kalinin, Alexey A Moskalev, George S Krasnov, Alexey A Dmitriev, Anna V Kudryavtseva
Paragangliomas/pheochromocytomas comprise rare tumors that arise from the extra-adrenal paraganglia, with an incidence of about 2 to 8 per million people each year. Approximately 40% of cases are due to genetic mutations in at least one out of more than 30 causative genes. About 25-30% of pheochromocytomas/paragangliomas develop under the conditions of a hereditary tumor syndrome a third of which are caused by mutations in the VHL gene. Together, the gene mutations in this disorder have implicated multiple processes including signaling pathways, translation initiation, hypoxia regulation, protein synthesis, differentiation, survival, proliferation, and cell growth...
April 11, 2017: Oncotarget
https://www.readbyqxmd.com/read/28181818/recommendations-for-the-management-of-adrenal-incidentalomas-what-is-pertinent-for-radiologists
#17
Anju Sahdev
Adrenal incidentalomas are unsuspected, asymptomatic adrenal masses detected on imaging. Most are non-functioning benign adrenocortical adenomas but can represent other benign lesions or lesions requiring therapeutic intervention including adrenocortical carcinoma, pheochromocytoma, hormone-producing adenoma or metastasis. This review summarizes and highlights radiological recommendations within the recently issued guidelines for the management of adrenal incidentalomas from the European Society of Endocrinology Clinical Practice in collaboration with the European Network for Study of Adrenal Tumours...
April 2017: British Journal of Radiology
https://www.readbyqxmd.com/read/28058099/adenomatoid-tumor-of-the-adrenal-gland-in-young-woman-from-clinical-and-radiological-to-pathological-study
#18
Brankica Krstevska, Sasha Jovanovska Mishevska, Rubens Jovanovic
Adenomatoid tumors are neoplasms of mesothelial origin, usually occurring in the male and female genital tracts. Extragenital localization sites such as adrenal glands are rare but have been reported. When found in the adrenals, they represent great clinical, radiological and pathological diagnostic challenge, with wide range of differential diagnoses to be considered. We present a case of a 30 years old female, with incidental ultrasound finding of unilateral tumor in the right adrenal gland. Multi slices CT scan was of value in localizing this tumor, but not in the precise diagnosis...
November 17, 2016: Rare Tumors
https://www.readbyqxmd.com/read/28011503/surgical-resection-of-giant-pheochromocytomas-arising-behind-the-retrohepatic-inferior-vena-cava
#19
Yuji Soejima, Tomoharu Yoshizumi, Toru Ikegami, Norifumi Harimoto, Shinji Ito, Noboru Harada, Takashi Motomura, Akihisa Nagatsu, Tetsuo Ikeda, Yoshihiko Maehara
BACKGROUND: Surgical resection of retrocaval giant pheochromocytomas (PCs) and of extra-adrenal paragangliomas (EAPs) is a technically challenging procedure but data on these procedures are scarce. The purpose of this study was to present and evaluate our surgical results for such tumors. PATIENTS AND METHODS: We retrospectively analyzed four consecutive patients who had surgery for giant retro-caval PCs and EAPs in terms of surgical technique, resectability of the tumor, requirement for bypass, and postoperative complications...
2017: Anticancer Research
https://www.readbyqxmd.com/read/27999715/secretory-paraspinal-paraganglioma-of-thoracolumar-spine-case-report-and-review-of-literature
#20
Saad Akhtar, Sidra Sattar, Ehsan Bari, Naila Kayani, Sarosh Moeen
BACKGROUND: Pheochromocytomas are catecholamine secreting tumors of the adrenal medulla chromaffin cells, however, when present extra-adrenally they are called paragangliomas. Paragangliomas rarely produce catecholamine in excess, which is evident by clinical symptoms, urine, and blood biochemistry. Total resection of these tumors can lead to complete clinical and biochemical resolution. This case report presents the clinical features, radiological findings, and neurological outcome in a middle-aged female with a secretory paraganglioma...
2016: Surgical Neurology International
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