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Endocrine neoplasia

Silje Hovden, Marie Louise Jespersen, Peter H Nissen, Per Løgstrup Poulsen, Lars Rolighed, Søren A Ladefoged, Lars Rejnmark
Familial hypocalciuric hypercalcemia type 3 should be considered as differential diagnosis in patients with suspected primary hyperparathyroidism and/or suspected multiple neoplasia syndrome, as correct diagnosis will spare the patients for going through multiple futile parathyroidectomies and for the worry of being diagnosed with a cancer susceptibility syndrome.
October 2016: Clinical Case Reports
Bin Guan, James M Welch, Julie C Sapp, Hua Ling, Yulong Li, Jennifer J Johnston, Electron Kebebew, Leslie G Biesecker, William F Simonds, Stephen J Marx, Sunita K Agarwal
Primary hyperparathyroidism (PHPT) is a common endocrine disease characterized by parathyroid hormone excess and hypercalcemia and caused by hypersecreting parathyroid glands. Familial PHPT occurs in an isolated nonsyndromal form, termed familial isolated hyperparathyroidism (FIHP), or as part of a syndrome, such as multiple endocrine neoplasia type 1 or hyperparathyroidism-jaw tumor syndrome. The specific genetic or other cause(s) of FIHP are unknown. We performed exome sequencing on germline DNA of eight index-case individuals from eight unrelated kindreds with FIHP...
October 13, 2016: American Journal of Human Genetics
Francisca Caimari, Márta Korbonits
Recently, a number of novel genetic alterations have been identified that predispose individuals to pituitary adenomas. Clinically relevant pituitary adenomas are relatively common, present in 0.1% of the general population. They are mostly benign monoclonal neoplasms that arise from any of the five hormone-secreting cell types of the anterior lobe of the pituitary gland, and cause disease due to hormonal alterations and local space-occupying effects. The pathomechanism of pituitary adenomas includes alterations in cell-cycle regulation and growth factor signaling, which are mostly due to epigenetic changes; somatic and especially germline mutations occur more rarely...
October 15, 2016: Clinical Cancer Research: An Official Journal of the American Association for Cancer Research
Samuel A Wells
Most endocrine tumors are benign, and afflicted patients usually seek medical advice because of symptoms caused by too much, or too little, native hormone secretion or the impingement of their tumor on a vital structure. Malignant endocrine tumors represent a more serious problem, and patient cure often depends on early diagnosis and treatment. The recent development of novel molecular therapeutics holds great promise for the treatment of patients with locally advanced or metastatic endocrine cancer. In this CCR Focus, expert clinical investigators describe the molecular characteristics of various endocrine tumors and discuss the current status of diagnosis and treatment...
October 15, 2016: Clinical Cancer Research: An Official Journal of the American Association for Cancer Research
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
Manuel C D F Maia, Delmar Muniz Lourenço, Rachel Riechelmann
BACKGROUND: Approximately 10% of pancreatic neuroendocrine tumors (NET) are associated with familial syndromes, with the most common type being multiple endocrine neoplasia type 1 (MEN-1). However, the available evidence on how to treat NET comes from studies in sporadic NET. CASE REPORT: Here we report the case of a 51-year-old male patient with a metastatic MEN-1-associated pancreatic NET and hypercalcemia related to primary hyperparathyroidism and tumor-secreted parathyroid-related protein...
2016: Oncology Research and Treatment
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
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
Hong-Jin Zou, Yu-Shu Li, Zhong-Yan Shan
Multiple endocrine neoplasia 2A (MEN2A) is characterized by the coexistence of tumors that involve two or more endocrine glands within the same patient, and is defined as the occurrence of medullary thyroid carcinoma in association with pheochromocytoma (PHEO) and parathyroid tumors or hyperparathyroidism. The pathogenesis of MEN2A is due to the mutation of a tyrosine kinase receptor that is encoded by the rearrangement during transfection (RET) proto-oncogene. The mutation often occurs in exon 10q11.2. The present study reports the case of a 73-year-old man with severe hypercalcemia, bilateral adrenal PHEO and a thyroid nodule...
October 2016: Oncology Letters
Mose July, Prasanna Santhanam, Luca Giovanella, Giorgio Treglia
The aim of this review was to summarize the recent developments on the role of positron emission tomography (PET) imaging using different radiopharmaceuticals in patients with multiple endocrine neoplasia (MEN) syndromes. Although most guidelines do not mention the use of PET imaging in patients with MEN syndromes, recent data seem to suggest a relevant diagnostic role of PET imaging in this setting. In particular, latest evidence has shown that somatostatin receptor PET provides a diagnostic accuracy in detecting MEN syndromes-related neuroendocrine tumours (NETs) higher than that of somatostatin receptor scintigraphy, thus influencing patient management in a significant percentage of cases...
September 27, 2016: Clinical Physiology and Functional Imaging
Jian Yu Xu, Elizabeth G Grubbs, Steven G Waguespack, Camilo Jimenez, Robert F Gagel, Julie Ann Sosa, Rena Vassilopoulou-Sellin, Ramona Dadu, Mimi I Hu, Chardria S Trotter, Michelle Jackson, Thereasa A Rich, Samuel M Hyde, Steven I Sherman, Gilbert J Cote
BACKGROUND: Multiple endocrine neoplasia type 2 is an autosomal dominant inherited syndrome caused by activating mutations in the RET proto-oncogene. The K666N RET DNA variant was previously reported in two isolated medullary thyroid carcinoma (MTC) cases, but no family studies are available, and its oncogenic significance remains unknown. METHODS: The clinical features, genetic data, and family information of eight index MTC patients with a germline RET K666N variant were assessed...
September 27, 2016: Thyroid: Official Journal of the American Thyroid Association
Janette Furuzawa-Carballeda, Samuel Torres-Landa, Miguel Ángel Valdovinos, Enrique Coss-Adame, Luis A Martín Del Campo, Gonzalo Torres-Villalobos
Idiopathic achalasia is an archetype esophageal motor disorder, causing significant impairment of eating ability and reducing quality of life. The pathophysiological underpinnings of this condition are loss of esophageal peristalsis and insufficient relaxation of the lower esophageal sphincter (LES). The clinical manifestations include dysphagia for both solids and liquids, regurgitation of esophageal contents, retrosternal chest pain, cough, aspiration, weight loss and heartburn. Even though idiopathic achalasia was first described more than 300 years ago, researchers are only now beginning to unravel its complex etiology and molecular pathology...
September 21, 2016: World Journal of Gastroenterology: WJG
Hannah du Preez, Ashok Adams, Polly Richards, Simon Whitley
: Hyperparathyroidism jaw tumour syndrome is a rare autosomal dominant inherited endocrine neoplasia syndrome, which predisposes carriers to develop a triad of multiple ossifying fibromas of the maxilla and mandible, parathyroid adenomas and carcinomas (with consequent hyperparathyroidism) as well as renal and uterine tumours. The prevalence of this condition is unknown. Patients typically present initially with symptoms and signs of a jaw tumour. A high index of suspicion is required for the underlying diagnosis to be recognised, enabling appropriate management of jaw lesions, treatment of hyperparathyroidism, if present, as well as early detection of malignant disease and screening of family members...
September 21, 2016: Insights Into Imaging
Joseph Wolfgang Mathews, Rhonda Winchester, Nebras Alsaygh, Anne M Bartlett, Louis Luttrell
Ossifying fibromas of the maxillofacial bones are an uncommon form of benign neoplasm usually treated by surgical excision. Up to 30% of patients with hyperparathyroidism-jaw tumor syndrome, a rare form of multiple endocrine neoplasia resulting from autosomal dominant inactivating mutation of the Hrpt2 tumor suppressor gene, initially present with ossifying fibromas. Coincident hypercalcemia because of the presence of parathyroid adenoma is common in these patients, of whom 15% may have or may develop parathyroid carcinoma...
September 2016: American Journal of the Medical Sciences
Catherine A Outerbridge, Stephen D White, Verena K Affolter
OBJECTIVE: To describe a case of testicular neoplasia and alopecia universalis in a dog, and successful treatment of the latter with ciclosporin. ANIMAL: Twelve-year-old intact male wirehaired fox terrier. METHODS: Castration, skin biopsy for histopathology, lymphocyte immunophenotyping and clonality analysis of the canine T-cell receptor gamma locus (TCRγ) rearrangement. RESULTS: The dog presented with symmetrical generalized alopecia...
September 19, 2016: Veterinary Dermatology
Fernando Guerrero Pérez, Arturo Lisbona Gil, Mercedes Robledo, Pedro Iglesias, Carles Villabona Artero
No abstract text is available yet for this article.
November 2016: Endocrinología y Nutrición: órgano de la Sociedad Española de Endocrinología y Nutrición
Bong Kyun Kim, Jina Lee, Woo Young Sun
About 20%-30% of all cases of multiple endocrine neoplasia type 2A (MEN 2A) is accompanied by primary hyperparathyroidism. These patients undergo parathyroidectomy and, if needed, autotransplantation. In rare cases, autotransplanted parathyroid tissues can cause hypoparathyroidism due to failure of transplantation or hyperparathyroidism due to proliferation of the transplanted tissue. A 68-year-old female with MEN 2A underwent left adrenalectomy for pheochromocytoma 15 years prior to presentation and total thyroidectomy, central and right lateral neck lymph node dissection, and subtotal parathyroidectomy with autotransplantation for medullary thyroid cancer and primary hyperparathyroidism 6 years previous...
September 2016: Annals of Surgical Treatment and Research
M Cristina Pacheco
Multiple endocrine neoplasia (MEN) syndrome is a familial cancer syndrome characterized by neuroendocrine tumors. The syndrome encompasses four major subtypes: MEN1, MEN2A, MEN2B, and MEN4. MEN1 is caused by mutations in the MEN1 gene, MEN2A and MEN2B are caused by mutations in RET, and MEN4 is caused by mutations in CDKNB1. All are inherited in an autosomal dominant pattern, but de novo cases do arise. While all subtypes are associated with neuroendocrine tumors, each has characteristic organ involvement. Identifying patients with the syndrome can aid in proper screening and treatment...
June 2016: Journal of Pediatric Genetics
Wouter P Kluijfhout, Wessel M C M Vorselaars, Sandra A M van den Berk, Menno R Vriens, Inne H M Borel Rinkes, Gerlof D Valk, Thijs van Dalen, John M H de Klerk, Bart de Keizer
BACKGROUND: Several reports have shown good performance of fluorine-18 fluorocholine (F-FCH) PET-computed tomography (CT) for parathyroid localization, although overall evidence remains scarce. We collected data from three institutions in the Netherlands and investigated the performance of F-FCH PET-CT as a second-line imaging modality. MATERIALS AND METHODS: We performed a retrospective review of all patients at least 18 years who underwent F-FCH PET-CT for biochemically proven hyperparathyroidism (HPT) and inconclusive ultrasound and sestamibi scintigraphy...
September 8, 2016: Nuclear Medicine Communications
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
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