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https://www.readbyqxmd.com/read/27834132/surgical-management-of-medullary-thyroid-carcinoma-in-pediatric-age
#1
Claudio Spinelli, Leonardo Rossi, Silvia Strambi, Jessica Piscioneri, Rossella Elisei, Maura Massimino, Paolo Miccoli
Medullary thyroid carcinoma (MTC) is a rare, accounting for 5% of thyroid malignancies. It is a neuroendocrine tumor wich origins from thyroid parafollicular cells. It may be sporadic, mostly in adult patients, or inherited as autosomal dominant pattern, mostly in pediatric patients. As familial cancer, MTC may presented isolated as familial medullary thyroid carcinoma (FMTC) - 10% of cases - or, most often, as part of multiple endocrine neoplasm type 2 (MEN 2A or MEN 2B) syndromes - 90% of cases. The therapy for sporadic or hereditary MTC is surgical resection and consists in total thyroidectomy associated with central compartment lymph nodal dissection; the radicality of this intervention is fundamental to obtain a definitive cure...
November 11, 2016: Current Pediatric Reviews
https://www.readbyqxmd.com/read/27809725/distribution-of-ret-mutations-in-multiple-endocrine-neoplasia-2-in-denmark-1994-2014-a-nationwide-study
#2
Jes Sloth Mathiesen, Jens Peter Kroustrup, Peter Vestergaard, Kirstine Stochholm, Per Løgstrup Poulsen, Åse Krogh Rasmussen, Ulla Feldt-Rasmussen, Mette Gaustadnes, Torben Falck Ørntoft, Thomas V O Hansen, Finn Cilius Nielsen, Kim Brixen, Christian Godballe, Anja Lisbeth Frederiksen
Background Germline mutations of the REarranged during Transfection (RET) proto-oncogene cause multiple endocrine neoplasia 2 (MEN2). It is unclear whether the distribution of RET mutations varies among populations. We conducted the first nationwide study of the distribution of RET mutations and compared the results to those of other populations. Methods This retrospective cohort study included 1,583 patients, who underwent RET gene testing in one of three centers covering all of Denmark between September 1994 and December 2014...
November 3, 2016: Thyroid: Official Journal of the American Thyroid Association
https://www.readbyqxmd.com/read/27734708/-multiple-endocrine-neoplasia-i-wermers-syndrome-forms-of-clinical-manifestation-5-case-studies
#3
Karolína Drbalová, Kateřina Herdová, Petr Krejčí, Monika Nývltová, Svatopluk Solař, Lenka Vedralová, Pavel Záruba, David Netuka, Petr Bavor
Multiple Endocrine Neoplasia (MEN) is a condition in which several endocrine organs of an individual are affected by adenoma, hyperplasia and less often carcinoma, either simultaneously or at different stages of life. Two existing syndromes, MEN1 and MEN2 (2A, 2B), in literature is also mentioned MEN4, are associated also with other non-endocrine disorders. MEN1 (Wermer syndrome) affects the pituitary, parathyroid, and pancreatic area. 95 % of patients show very early manifestation of hyperparathyroidism, often before 40 years of age...
2016: Vnitr̆ní Lékar̆ství
https://www.readbyqxmd.com/read/27704704/composite-paraganglioma-ganglioneuroma-concomitant-with-adrenal-metastasis-of-medullary-thyroid-carcinoma-in-a-patient-with-multiple-endocrine-neoplasia-type-2b-a-case-report
#4
Mutsushi Yamasaki, Yoshiyasu Sato, Takeo Nomura, Fuminori Sato, Shinya Uchino, Hiromitsu Mimata
Multiple endocrine neoplasia type 2 (MEN2) is an autosomal-dominant cancer syndrome with major components of medullary thyroid carcinoma, pheochromocytoma, and hyperparathyroidism. MEN2B is the most aggressive and rarest of the MEN2 variants. Pheochromocytoma in MEN2 is virtually always located in the adrenal medulla, but MEN2-associated extra-adrenal pheochromocytomas (paraganglioma) are rare. A 59-year-old man who has been diagnosed with MEN2B consulted our hospital for surgical treatment of a 10-mm left adrenal mass and a 30-mm retroperitoneal mass...
October 5, 2016: Asian Journal of Endoscopic Surgery
https://www.readbyqxmd.com/read/27704398/the-ret-e616q-variant-is-a-gain-of-function-mutation-present-in-a-family-with-features-of-multiple-endocrine-neoplasia-2a
#5
William Grey, Rosaline Hulse, Anna Yakovleva, Dilyana Genkova, Benjamin Whitelaw, Ellen Solomon, Salvador J Diaz-Cano, Louise Izatt
The REarranged during Transfection (RET) proto-oncogene is a receptor tyrosine kinase involved in growth and differentiation during embryogenesis and maintenance of the urogenital and nervous systems in mammals. Distinct mutations across hotspot RET exons can cause Multiple Endocrine Neoplasia Type 2A (MEN2A) characterised by development of medullary thyroid cancer (MTC), phaeochromocytoma (PCC) and primary hyperparathyroidism (PHPT), with a strong correlation between genotype and phenotype. Here, we report a 42-year-old man presented in the clinic with a unilateral PCC, with subsequent investigations revealing a nodular and cystic thyroid gland...
October 5, 2016: Endocrine Pathology
https://www.readbyqxmd.com/read/27635947/nrasq61r-mutation-specific-immunohistochemistry-also-identifies-the-hrasq61r-mutation-in-medullary-thyroid-cancer-and-may-have-a-role-in-triaging-genetic-testing-for-men2
#6
Jessica Reagh, Martyn Bullock, Juliana Andrici, John Turchini, Loretta Sioson, Adele Clarkson, Nicole Watson, Amy Sheen, Grace Lim, Leigh Delbridge, Stan Sidhu, Mark Sywak, Ahmad Aniss, Phillip Shepherd, Daniel Ng, Paul Oei, Michael Field, Diana Learoyd, Bruce G Robinson, Roderick J Clifton-Bligh, Anthony J Gill
A quarter of patients with medullary thyroid carcinoma (MTC) have germline mutations in the RET proto-oncogene indicating MEN2. Therefore genetic testing is recommended for all patients presenting with MTC. Approximately 40% of MTCs have somatic RET mutations. Somatic mutations in the RAS genes are the next most common driver mutations and appear to be mutually exclusive with germline RET mutation. The single most common somatic RAS mutation is HRASQ61R (c.182A>G), reported in 4.6% to 11% of all MTCs. Mutation-specific immunohistochemistry (IHC) initially developed to identify the NRASQ61R mutation in melanoma (clone SP174) has proven highly sensitive and specific...
September 15, 2016: American Journal of Surgical Pathology
https://www.readbyqxmd.com/read/27604949/multifocality-in-sporadic-medullary-thyroid-carcinoma-an-international-multicenter-study
#7
Garth F Essig, Kyle Porter, David Schneider, Debora Arpaia, Susan C Lindsey, Giulia Busonero, Daniel Fineberg, Barbara Fruci, Kristien Boelaert, Johannes W Smit, Johannes Arnoldus Anthonius Meijer, Leonidas H Duntas, Neil Sharma, Giuseppe Costante, Sebastiano Filetti, Rebecca S Sippel, Bernadette Biondi, Duncan J Topliss, Furio Pacini, Rui M B Maciel, Patrick C Walz, Richard T Kloos
BACKGROUND: Current surgical standard of care in sporadic medullary thyroid carcinoma (sMTC) consists of a minimum of total thyroidectomy with central neck dissection. Some have suggested thyroid lobectomy with isthmusectomy and central neck dissection for patients with sMTC, given their lower frequency of bilateral disease, although this topic has not been thoroughly studied. This study assessed the prevalence of multifocality in sMTC via a large international multi-institutional retrospective review to quantify this prevalence, including the impact of geography, to assess more accurately the risks associated with alternative surgical approaches...
October 11, 2016: Thyroid: Official Journal of the American Thyroid Association
https://www.readbyqxmd.com/read/27594983/a-patient-with-men1-typical-features-and-men2-like-features
#8
Diala El-Maouche, James Welch, Sunita K Agarwal, Lee S Weinstein, William F Simonds, Stephen J Marx
Multiple endocrine neoplasia (MEN) type 1 (MEN1) and 2 (MEN2) rarely co-exist in one case. Here we report a patient with features of both syndromes. The patient presented with typical MEN1 features plus pheochromocytoma and thickened corneal nerves. She had a germline 1132delG frameshift mutation in MEN1, no mutation in CDKN1B (p27) and no RET mutation, but had both RET polymorphisms Gly691Ser and Arg982Cys. This is the first case report of a combination of typical clinical findings of MEN1 harboring a germline MEN1 mutation and the MEN2-like phenotype with negative full RET gene analysis of pathogenic variants...
May 2016: International Journal of Endocrine Oncology
https://www.readbyqxmd.com/read/27480304/-genotype-phenotype-correlations-in-multiple-endocrine-neoplasia-type-2
#9
X W Zhang, J Y Wang, Y B Zhang, H F Wan, B Zhang, D G Yan, W S Liu, Z G Xu, P Z Tang
OBJECTIVE: To evaluate the relationship between different RET mutations and the aggressiveness of hereditary medullary thyroid cancer (HMTC) or the presentation of other endocrine disorders in patients with multiple endocrine neoplasia type 2 (MEN2). METHODS: A total of 73 thyroid medullary carcinoma patients from 22 Chinese kindreds who were treated in our center from 2010 to 2015 were enrolled. RET genes in the patients and their relatives were screened. RESULTS: According to the clinical data and 2015 American Thyroid Association (ATA) guidelines, patients were classified into 3 RET mutation risk groups: Modest, 24 cases; High, 48 cases; and Highest, 1 case...
July 7, 2016: Zhonghua Er Bi Yan Hou Tou Jing Wai Ke za Zhi, Chinese Journal of Otorhinolaryngology Head and Neck Surgery
https://www.readbyqxmd.com/read/27306766/genetics-of-parathyroid-tumours
#10
R V Thakker
Primary hyperparathyroidism (PHPT), due to parathyroid tumours, may occur as part of a complex syndrome or as an isolated (nonsyndromic) disorder, and both forms can occur as familial (i.e. hereditary) or nonfamilial (i.e. sporadic) disease. Syndromic PHPT includes multiple endocrine neoplasia (MEN) types 1 to 4 (MEN1 to MEN4) and the hyperparathyroidism-jaw tumour (HPT-JT) syndrome. Syndromic and hereditary PHPT are often associated with multiple parathyroid tumours, in contrast to sporadic PHPT, in which single parathyroid adenomas are more common...
June 16, 2016: Journal of Internal Medicine
https://www.readbyqxmd.com/read/27161309/pheochromocytoma-paraganglioma-biochemical-and-genetic-diagnosis
#11
Marta Cano Megías, Diego Rodriguez Puyol, Loreto Fernández Rodríguez, Gloria Lisette Sención Martinez, Patricia Martínez Miguel
Pheochromocytomas and paragangliomas are tumours derived from neural crest cells, which can be diagnosed by biochemical measurement of metanephrine and methoxytyramine. Advances in genetic research have identified many genes involved in the pathogenesis of these tumours, suggesting that up to 35-45% may have an underlying germline mutation. These genes have a singular transcriptional signature and can be grouped into 2 clusters (or groups): cluster 1 (VHL and SHDx), involved in angiogenesis and hypoxia pathways; and cluster 2 (MEN2 and NF1), linked to the kinase signalling pathway...
May 6, 2016: Nefrología: Publicación Oficial de la Sociedad Española Nefrologia
https://www.readbyqxmd.com/read/27153782/multiple-endocrine-neoplasia-syndromes-a-comprehensive-imaging-review
#12
REVIEW
Joseph R Grajo, Raj Mohan Paspulati, Dushyant V Sahani, Avinash Kambadakone
MEN1, MEN2, and MEN4 comprise a series of familial disorders involving the simultaneous occurrence of tumors in more than one endocrine organ, collectively known as multiple endocrine neoplasia. Patients with this family of disorders develop tumors of the parathyroid gland, pancreas, pituitary gland, adrenal gland, and thyroid gland, along with miscellaneous neuroendocrine tumors of the respiratory and gastrointestinal tracts. Although some patients undergo early prophylactic surgical management, particularly in the setting of familial medullary thyroid carcinoma, many develop tumors later in life...
May 2016: Radiologic Clinics of North America
https://www.readbyqxmd.com/read/27075351/diagnosis-and-management-of-hereditary-phaeochromocytoma-and-paraganglioma
#13
Fiona Lalloo
About 30% of phaeochromocytomas or paragangliomas are genetic. Whilst some individuals will have clinical features or a family history of inherited cancer syndrome such as neurofibromatosis type 1 (NF1) or multiple endocrine neoplasia 2 (MEN2), the majority will present as an isolated case. To date, 14 genes have been described in which pathogenic mutations have been demonstrated to cause paraganglioma or phaeochromocytoma . Many cases with a pathogenic mutation may be at risk of developing further tumours...
2016: Recent Results in Cancer Research
https://www.readbyqxmd.com/read/26971848/somatic-and-germline-mutations-in-nets-implications-for-their-diagnosis-and-management
#14
REVIEW
Marianna Minnetti, Ashley Grossman
It is now understood that specific somatic and germline mutations may lead to the development of the neuroendocrine tumours (NETs). NETs usually occur as sporadic isolated tumours, although they also may present as part of complex familial endocrine cancer syndromes, such as multiple endocrine neoplasia type 1 (MEN1) and type 2 (MEN2), Von Hippel-Lindau (VHL) and neurofibromatosis syndromes, tuberous sclerosis, Carney triad and dyad, Reed syndrome and polycythaemia-paraganglioma syndromes. Only in MEN2 syndrome is there a specific genotype-phenotype correlation, although in both sporadic and syndromic NETs some gene mutations are associated with specific clinico-pathological features and prognosis...
January 2016: Best Practice & Research. Clinical Endocrinology & Metabolism
https://www.readbyqxmd.com/read/26898681/risk-reduction-surgery-in-pediatric-surgical-oncology-a-perspective
#15
REVIEW
John A Sandoval, Israel Fernandez-Pineda, Alpin D Malkan
OBJECTIVE: A small percentage of pediatric solid cancers arise as a result of clearly identified inherited predisposition syndromes and nongenetic lesions. Evidence supports preemptive surgery for children with genetic [multiple endocrine neoplasia type 2 (MEN2), familial adenomatous polyposis syndrome (FAP), hereditary nonpolyposis colorectal cancer (HNPCC), and hereditary diffuse gastric cancer (HDGC) and nongenetic [thyroglossal duct cysts (TGDC), congenital pulmonary airway malformations (CPAM), alimentary tract duplication cysts (ATDC), and congenital choledochal cysts (CCC)] developmental anomalies...
April 2016: Journal of Pediatric Surgery
https://www.readbyqxmd.com/read/26765577/a-6-base-pair-in-frame-germline-deletion-in-exon-7-of-ret-leads-to-increased-ret-phosphorylation-erk-activation-and-men2a
#16
S Latteyer, L Klein-Hitpass, C Khandanpour, D Zwanziger, T D Poeppel, K W Schmid, D Führer, L C Moeller
CONTEXT: Multiple endocrine neoplasia type 2 (MEN2) is usually caused by missense mutations in the proto-oncogene, RET. OBJECTIVE: This study aimed to determine the mutation underlying MEN2A in a female patient diagnosed with bilateral pheochromocytoma at age 31 years and with medullary thyroid carcinoma (MTC) 6 years later. METHODS: Leukocyte DNA was used for exome and Sanger sequencing. Wild-type (WT) RET and mutants were expressed in HEK293 cells...
March 2016: Journal of Clinical Endocrinology and Metabolism
https://www.readbyqxmd.com/read/26596315/hypercalcemia-pathophysiological-aspects
#17
I Žofková
The metabolic pathways that contribute to maintain serum calcium concentration in narrow physiological range include the bone remodeling process, intestinal absorption and renal tubule resorption. Dysbalance in these regulations may lead to hyper- or hypocalcemia. Hypercalcemia is a potentionally life-threatening and relatively common clinical problem, which is mostly associated with hyperparathyroidism and/or malignant diseases (90 %). Scarce causes of hypercalcemia involve renal failure, kidney transplantation, endocrinopathies, granulomatous diseases, and the long-term treatment with some pharmaceuticals (vitamin D, retinoic acid, lithium)...
2016: Physiological Research
https://www.readbyqxmd.com/read/26557756/familial-syndromes-associated-with-neuroendocrine-tumours
#18
REVIEW
Paweł Gut, Hanna Komarowska, Agata Czarnywojtek, Joanna Waligórska-Stachura, Maciej Bączyk, Katarzyna Ziemnicka, Jakub Fischbach, Elżbieta Wrotkowska, Marek Ruchała
Neuroendocrine tumours may be associated with familial syndromes. At least eight inherited syndromes predisposing to endocrine neoplasia have been identified. Two of these are considered to be major factors predisposing to benign and malignant endocrine tumours, designated multiple endocrine neoplasia type 1 and type 2 (MEN1 and MEN2). Five other autosomal dominant diseases show more heterogeneous clinical patterns, such as the Carney complex, hyperparathyroidism-jaw tumour syndrome, Von Hippel-Lindau syndrome (VHL), neurofibromatosis type 1 (NF1) and tuberous sclerosis...
2015: Contemporary Oncology Współczesna Onkologia
https://www.readbyqxmd.com/read/26494389/primary-hyperparathyroidism-in-men2-syndromes
#19
REVIEW
Maria Alevizaki, Katerina Saltiki
One of the components of trethe classical form of MEN2 syndromes is primary hyperparathyroidism (PHP). It occurs in 20-30% of the typical MEN2A syndrome. The prevalence is more rare in gene carriers as these frequently have familial MTC only. PHP is diagnosed more frequently in association with the exon 11, codon 634 mutation of the ret gene-so there is phenotype/genotype correlation. The clinical manifestations of PHP in MEN2 are usually mild and the peak age of diagnosis after the 3rd decade. The treatment is surgical excision of the enlarged gland(s)...
2015: Recent Results in Cancer Research
https://www.readbyqxmd.com/read/26494388/pheochromocytomas-in-multiple-endocrine-neoplasia-type-2
#20
REVIEW
Venessa H M Tsang, Lyndal J Tacon, Diana L Learoyd, Bruce G Robinson
Pheochromocytoma (PC) is a neuroendocrine tumor that originates from chromaffin cells of the adrenal medulla. The production of catecholamines, including epinephrine, norepinephrine and dopamine, may lead to haemodynamic instability. Over 30% of PCs are associated with germline mutations, including re-arranged in transfection (RET) mutations seen in multiple endocrine neoplasia type 2 (MEN2) syndromes. Around 40% of individuals with MEN2 develop PC, though it is rarely the presenting feature. Compared to sporadic PC, MEN2-associated PC is more likely to be epinephine secreting and demonstrate bilateral adrenal involvement, and is less likely to be malignant...
2015: Recent Results in Cancer Research
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