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Pheochromocytoma

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https://www.readbyqxmd.com/read/28199934/mixed-corticomedullary-adrenal-carcinoma-case-report-comparison-in-features-treatment-and-prognosis-with-the-other-two-reported-cases
#1
Mhd Belal Alsabek, Riad Alhmaidi, Bader Ghazzawi, Ghiath Hamed, Alhadi Alseoudi
INTRODUCTION: Adrenal corticomedullary adenoma was reviewed in many cases in PubMed Library, While the coincidence corticomedullary adrenal carcinoma in the same gland was just described in two cases in the medical literature. Our case is the third to be reported and was treated with surgery and adjuvant chemotherapy and followed for two years. PRESENTATION OF CASE: A 50-year-old man suffered from a mass effect in the left abdominal side. While the laboratory showed a mild elevation in the levels of both serum cortisol and 24h urine cortisol, radiological images were highly suggested an adrenal malignant tumor without metastasis...
January 31, 2017: International Journal of Surgery Case Reports
https://www.readbyqxmd.com/read/28197344/from-bad-to-worse-paraganglioma-diagnosis-during-induction-of-labor-for-coexisting-preeclampsia
#2
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/28197038/atypical-presentation-of-pheochromocytoma-central-nervous-system-pseudovasculitis
#3
Ketankumar Rupala, Varun Mittal, Rajiv Gupta, Rajiv Yadav
Pheochromocytoma has atypical presentation in 9%-10% of patients. Atypical presentations include myocardial infarction, renal failure, and rarely cerebrovascular events. Various etiologies for central nervous system (CNS) involvement in pheochromocytoma have been described in the literature. A rare association of CNS vasculitis-like features has been described with pheochromocytoma. We report a rare case of pheochromocytoma detected on evaluation for CNS vasculitis-like symptoms.
January 2017: Indian Journal of Urology: IJU: Journal of the Urological Society of India
https://www.readbyqxmd.com/read/28197025/current-perioperative-management-of-pheochromocytomas
#4
REVIEW
Rashmi Ramachandran, Vimi Rewari
Neuroendocrine tumors which have the potential to secrete catecholamines are either associated with sympathetic adrenal (pheochromocytoma) or nonadrenal (paraganglioma) tissue. Surgical removal of these tumors is always indicated to cure and prevent cardiovascular and other organ system complications associated with catecholamine excess. Some of these tumors have malignant potential as well. The diagnosis, localization and anatomical delineation of these tumors involve measurement of catecholamines and their metabolic end products in plasma and urine, (123)I-metaiodobenzylguanidine scintigraphy, computed tomography, and/or magnetic resonance imaging...
January 2017: Indian Journal of Urology: IJU: Journal of the Urological Society of India
https://www.readbyqxmd.com/read/28196587/pheochromocytomas-and-paragangliomas-genetically-diverse-and-minimalist-all-at-once
#5
Patricia L M Dahia
Pheochromocytomas and paragangliomas are infrequent, genetically heterogeneous neuroendocrine tumors. In this issue of Cancer Cell, Fishbein et al. report novel driver genes, pathogenic mechanisms, and markers of malignancy. Notably, the new findings support the long-held view that these tumors distinctively arise from a single driver event, either inherited or acquired.
February 13, 2017: Cancer Cell
https://www.readbyqxmd.com/read/28187001/molecular-markers-of-paragangliomas-pheochromocytomas
#6
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...
February 8, 2017: Oncotarget
https://www.readbyqxmd.com/read/28186607/-clinical-features-and-mutations-of-ret-proto-oncogene-in-a-pedigree-affected-with-type-2a-multiple-endocrine-neoplasia
#7
Yong Zhang, Xiao Zheng, Liang Cheng, Shaogang Ma
OBJECTIVE: To investigate the clinical features and mutations of RET proto-oncogene in a pedigree affected with multiple endocrine neoplasia type 2A (MEN2A). METHODS: Clinical data of the family members was collected. Genomic DNA from peripheral blood leukocytes were extracted and subjected to PCR amplification. Exons 8, 10, 11, 13, 14, 15, 16 of the RET gene was sequenced. RESULTS: A missense mutation p.C634W was detected in 8 members from the family...
February 10, 2017: Zhonghua Yi Xue Yi Chuan Xue za Zhi, Zhonghua Yixue Yichuanxue Zazhi, Chinese Journal of Medical Genetics
https://www.readbyqxmd.com/read/28181818/recommendations-for-the-management-of-adrenal-incidentalomas-what-is-pertinent-for-radiologists
#8
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 summarises and highlights radiological recommendations within the recently issued guidelines for the management of adrenal incidentalomas from European Society of Endocrinology Clinical Practice in collaboration with European Network for Study of Adrenal Tumours...
February 9, 2017: British Journal of Radiology
https://www.readbyqxmd.com/read/28162975/comprehensive-molecular-characterization-of-pheochromocytoma-and-paraganglioma
#9
Lauren Fishbein, Ignaty Leshchiner, Vonn Walter, Ludmila Danilova, A Gordon Robertson, Amy R Johnson, Tara M Lichtenberg, Bradley A Murray, Hans K Ghayee, Tobias Else, Shiyun Ling, Stuart R Jefferys, Aguirre A de Cubas, Brandon Wenz, Esther Korpershoek, Antonio L Amelio, Liza Makowski, W Kimryn Rathmell, Anne-Paule Gimenez-Roqueplo, Thomas J Giordano, Sylvia L Asa, Arthur S Tischler, Karel Pacak, Katherine L Nathanson, Matthew D Wilkerson
We report a comprehensive molecular characterization of pheochromocytomas and paragangliomas (PCCs/PGLs), a rare tumor type. Multi-platform integration revealed that PCCs/PGLs are driven by diverse alterations affecting multiple genes and pathways. Pathogenic germline mutations occurred in eight PCC/PGL susceptibility genes. We identified CSDE1 as a somatically mutated driver gene, complementing four known drivers (HRAS, RET, EPAS1, and NF1). We also discovered fusion genes in PCCs/PGLs, involving MAML3, BRAF, NGFR, and NF1...
February 2, 2017: Cancer Cell
https://www.readbyqxmd.com/read/28157406/biomarker-molecular-and-technologic-advances-in-urologic-pathology-oncology-and-imaging
#10
Carla L Ellis, Lara R Harik, Cynthia Cohen, Adeboye O Osunkoya
Urologic pathology is evolving rapidly. Emerging trends include the expanded diagnostic utility of biomarkers and molecular testing, as well as adapting to the plethora of technical advances occurring in genitourinary oncology, surgical practice, and imaging. We illustrate those trends by highlighting our approach to the diagnostic workup of a few selected disease entities that pathologists may encounter, including newly recognized subtypes of renal cell carcinoma, pheochromocytoma, and prostate cancer, some of which harbor a distinctive chromosomal translocation, gene loss, or mutation...
February 3, 2017: Archives of Pathology & Laboratory Medicine
https://www.readbyqxmd.com/read/28149750/pheochromocytoma-a-cause-of-anemia
#11
A Youssef, A Hamade
Patients with a Pheochromocytoma usually present with intractable hypertension, postural hypotension, headaches and palpitations, with intractable hypertension being the predominant symptom. When the tumor is located in the urinary bladder, symptoms may be induced by micturition. Herein, we report a young patient with a urinary bladder Pheochromocytoma without hypertension or symptoms induced by micturition. Instead, she presented with anemia.
February 2017: Urology Case Reports
https://www.readbyqxmd.com/read/28148588/lesson-of-the-month-1-subacute-thyroiditis-a-rare-cause-of-fever-of-unknown-origin
#12
Fatima Amar Bahowairath, Nicholas Woodhouse, Samir Hussain, Mujahid Al Busaidi
Fever of unknown origin (FUO) is sometimes a diagnostic dilemma for clinicians. Endocrine causes reported in the literature include subacute thyroiditis, thyrotoxicosis, adrenal insufficiency and pheochromocytoma. Among these, subacute thyroiditis is often overlooked as it can occasionally lack typical symptoms. This case illustrates the fact that subacute thyroiditis should be considered as a possible cause of fever even if signs and symptoms of hyperthyroidism and thyroid tenderness are absent.
February 2017: Clinical Medicine: Journal of the Royal College of Physicians of London
https://www.readbyqxmd.com/read/28134695/multiple-endocrine-neoplasia-type-2b-unmasked-by-18f-fdg-pet-ct-and-131i-mibg-spect-ct
#13
Xun Sun, Maher Mohamad Rajab Arnous, Xiaoli Lan
F-FDG PET/CT was performed to detect an occult malignancy in a 26-year-old woman with complicated medical history which included paroxysmal hypertension and significantly elevated tumor marker. The images revealed lesions in the thyroid, lymph nodes, and bilateral adrenal glands. Further I-MIBG SPECT/CT revealed intense activity in the lesion in the left adrenal gland, which was consistent with pheochromocytoma. The pathology examination after subsequent neck biopsy demonstrated medullary thyroid carcinoma...
January 27, 2017: Clinical Nuclear Medicine
https://www.readbyqxmd.com/read/28121933/successful-treatment-of-metastatic-pheochromocytoma-in-the-spine-with-cement-augmentation
#14
Siyi Cai, Xiangyi Kong, Chengrui Yan, Yong Liu, Xi Zhou, Guixing Qiu
Metastatic pheochromocytoma in the spine is rare, and there is no standard curative management. Treatment via open surgery is often risky in the perioperative period, while osteoplasty by cement augmentation is a less invasive option.We describe 2 patients with recurrence of pheochromocytoma involving the spine and the pelvis who were successfully treated with osteoplasty by cement augmentation. A 31-year-old female underwent cement augmentation for a pelvic lesion 6 months after the resection and screw fixation of an L3 lesion...
January 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/28120550/pheochromocytomas-and-paragangliomas-in-humans-and-dogs
#15
REVIEW
S Galac, E Korpershoek
Pheochromocytomas (PCCs) and paragangliomas (PGLs) are described in several species. In humans and dogs they have many similarities: the excessive catecholamine release in hormonally active PCC causes similar clinical signs, the frequency of metastasis is similar, and they are histopathologically almost identical. Surgery is curative when PCC and PGL have not metastasized, while only palliative treatment is possible for patients with metastatic disease. Mutations in succinate dehydrogenase subunit B (SDHB) are associated with metastatic behaviour in human PCC/PGL and the same mutation has been described in dogs...
January 25, 2017: Veterinary and Comparative Oncology
https://www.readbyqxmd.com/read/28116635/a-somatic-hif2%C3%AE-mutation-induced-multiple-and-recurrent-pheochromocytoma-paraganglioma-with-polycythemia-clinical-study-with-literature-review
#16
Qiuli Liu, Yan Wang, Dali Tong, Gaolei Liu, Wenqiang Yuan, Jun Zhang, Jin Ye, Yao Zhang, Gang Yuan, Qingxing Feng, Dianzheng Zhang, Jun Jiang
A syndrome known as pheochromocytomas (PCC)/paragangliomas (PGL) and polycythemia resulted from gain-of-function mutation of hypoxia-inducible factor 2α (HIF2α) has been reported recently. However, clinical features of this syndrome vary from patient to patient. In our study, we described the clinical features of the patient within 15-year follow-up with a literature review. The patient presented with "red face" since childhood and was diagnosed with polycythemia and pheochromocytoma in 2000, and then, tumor was removed at his age of 27 (year 2000)...
January 23, 2017: Endocrine Pathology
https://www.readbyqxmd.com/read/28108930/controlling-tumor-progression-with-cyclophosphamide-vincristine-and-dacarbazine-treatment-improves-survival-in-patients-with-metastatic-and-unresectable-malignant-pheochromocytomas-paragangliomas
#17
Shiko Asai, Takuyuki Katabami, Mika Tsuiki, Yasushi Tanaka, Mitsuhide Naruse
Evidence has not been established to support that combination chemotherapy with cyclophosphamide, vincristine, and dacarbazine (CVD) improves survival in patients with malignant pheochromocytoma and paraganglioma (M-PPGL). To investigate the efficacy of CVD for this disease, we retrospectively analyzed data of 23 patients with metastatic and unresectable M-PPGL (mean age, 41.7 ± 15.4 years) who received at least 2 cycles of this regimen. The follow-up period after initiation of CVD ranged from 0.3 to 13...
January 20, 2017: Hormones & Cancer
https://www.readbyqxmd.com/read/28108355/an-unusual-case-of-a-pheochromocytoma-mimicking-both-acute-coronary-syndrome-and-central-nervous-system-infection-case-report-and-literature-review
#18
Andreas Mitsis, Christina Hadjilouka, Maria Skarpari, Michael Myrianthefs
Pheochromocytoma has been called 'the great mimic', capable of presenting itself as many other medical conditions. We present a 58-year-old woman admitted with recurrent episodes of nausea and vomiting and high blood pressure. Elevated cardiac biomarkers and diffuse ST-T abnormalities on electrocardiography suggested myocardial injury. However the biochemical and electrocardiography abnormalities normalized in a few hours. The next day the combination of fever, mental disorientation and confusion associated with elevated levels of C-reactive protein and leukocytosis suggested infection of central neural system...
January 17, 2017: Hellenic Journal of Cardiology: HJC, Hellēnikē Kardiologikē Epitheōrēsē
https://www.readbyqxmd.com/read/28099933/loss-of-maternal-chromosome-11-is-a-signature-event-in-sdhaf2-sdhd-and-vhl-related-paragangliomas-but-less-significant-in-sdhb-related-paragangliomas
#19
Attje S Hoekstra, Erik F Hensen, Ekaterina S Jordanova, Esther Korpershoek, Anouk Na van der Horst-Schrivers, Cees Cornelisse, Eleonora Pm Corssmit, Frederik J Hes, Jeroen C Jansen, Henricus Pm Kunst, Henri Jlm Timmers, Adrian Bateman, Diana Eccles, Judith Vmg Bovée, Peter Devilee, Jean-Pierre Bayley
Germline mutations in the succinate dehydrogenase (SDHA, SDHB, SDHC, SDHD, SDHAF2) or Von Hippel-Lindau (VHL) genes cause hereditary paraganglioma/pheochromocytoma. While SDHB (1p36) and VHL (3p25) are associated with autosomal dominant disease, SDHD (11q23) and SDHAF2 (11q13) show a remarkable parent-of-origin effect whereby tumor formation is almost completely dependent on paternal transmission of the mutant allele. Loss of the entire maternal copy of chromosome 11 occurs frequently in SDHD-linked tumors, and has been suggested to be the basis for this typical inheritance pattern...
January 14, 2017: Oncotarget
https://www.readbyqxmd.com/read/28099363/different-ret-gene-mutation-induced-multiple-endocrine-neoplasia-type-2a-in-3-chinese-families
#20
Qiuli Liu, Dali Tong, Wenqiang Yuan, Gaolei Liu, Gang Yuan, Weihua Lan, Dianzheng Zhang, Jun Zhang, Zaoming Huang, Yao Zhang, Jun Jiang
BACKGROUD: Multiple endocrine neoplasia type 2A (MEN2A) is a condition with inherited autosomal dominant mutations in RET (rearranged during transfection) gene that predisposes the carrier to extremely high risk of medullary thyroid cancer (MTC) and other MEN2A-associated tumors such as parathyroid cancer and/or pheochromocytoma. Little is reported about MEN2A syndrome in the Chinese population. METHODS: All members of the 3 families along with specific probands of MEN2A were analyzed for their clinical, laboratory, and genetic characteristics...
January 2017: Medicine (Baltimore)
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