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Neurol Genet 2020 Jun 1;6(3):e414. Epub 2020 Apr 1.

National Institutes of Health (J.S.R., A.J.C., H.W., Z.Z.), National Cancer Institute Neuro-Oncology Branch; National Institutes of Health (D.P.A., J.D.H.), National Institute of Neurological Disorders and Stroke, Surgical Neurology Branch; National Institutes of Health (Y.P., A.J., K.P.), Eunice Kennedy Shriver National Institute of Child Health and Human Development, Section on Medical Neuroendocrinology; Georgetown Hospital (M.A.N.), Internal Medicine and Pediatrics, Washington DC; National Institutes of Health (J.P.M., D.R.D.), National Institute of Neurological Disorders and Stroke, Mouse Imaging Facility, Bethesda, MD; George Washington University (J.G.S.), Radiology, Washington DC; National Library of Medicine (J.G.S.), MedPix®; National Institutes of Health (M.M.M.), Center for Cancer Research, National Cancer Institute, Laboratory of Pathology; and National Institutes of Health (R.H.K., B.A.K.), National Heart Lung and Blood Institute, Translational Vascular Medicine Branch, Bethesda, MD.

Objective: To investigate the effect of somatic, postzygotic, gain-of-function mutation of Endothelial Per-Arnt-Sim (PAS) domain protein 1 () encoding hypoxia-inducible factor-2α (HIF-2α) on posterior fossa development and spinal dysraphism in gain-of-function syndrome, which consists of multiple paragangliomas, somatostatinoma, and polycythemia.

Methods: Patients referred to our institution for evaluation of new, recurrent, and/or metastatic paragangliomas/pheochromocytoma were confirmed for gain-of-function syndrome by identification of the gain-of-function mutation in resected tumors and/or circulating leukocytes. The posterior fossa, its contents, and the spine were evaluated retrospectively on available MRI and CT images of the head and neck performed for tumor staging and restaging. Read More

Biochem Biophys Res Commun 2020 May 13;525(4):1032-1037. Epub 2020 Mar 13.

Department of Molecular and Cellular Pharmacology, Graduate School of Pharmaceutical Sciences, Nagoya City University, 3-1 Tanabedori Mizuhoku, Nagoya, 467-8603, Japan. Electronic address:

Pancreatic neuroendocrine tumors (pNETs) occur due to the abnormal growth of pancreatic islet cells and predominantly develop in the duodenal-pancreatic region. Somatostatinoma is one of the pNETs associated with tumors of pancreatic δ cells, which produce and secrete somatostatin. Limited information is currently available on the pathogenic mechanisms of somatostatinoma. Read More

Ann Pathol 2020 Apr 5;40(2):120-133. Epub 2020 Feb 5.

Département de biologie et pathologie médicales, institut Gustave-Roussy, 114, rue Edouard-Vaillant, 94805 Villejuif cedex, France. Electronic address:

About 5% of gastroenteropancreatic and thoracic neuroendocrine neoplasms (NENs) arise in the context of an inherited tumour syndrome. The two most frequent syndromes are: multiple endocrine neoplasia type 1 (MEN1), associated with a large spectrum of endocrine and non endocrine tumours, including duodenopancreatic, thymic and bronchial NENs, and the von Hippel-Lindau syndrome VHL, associated with pancreatic NENs. Two inherited syndromes have a low incidence of NENs: neurofibromatosis type 1 (NF1), associated with duodenal somatostatinomas, and tuberous sclerosis (TSC), associated with pancreatic NENs. Read More

Clin Gastroenterol Hepatol 2020 Jan 15. Epub 2020 Jan 15.

Division of Gastroenterology, Long Island Jewish Medical Center, Zucker School of Medicine at Hofstra/Northwell, Northwell Health System, New Hyde Park, New York.

JAMA Ophthalmol 2019 Dec 26. Epub 2019 Dec 26.

Neuro-Oncology Branch, National Cancer Institute (NCI), National Institutes of Health (NIH), Bethesda, Maryland.

Importance: Patients with the EPAS1 gain-of-function mutation syndrome (or Pacak-Zhuang syndrome) present with multiple paragangliomas or pheochromocytomas, duodenal somatostatinoma, polycythemia, headaches, and sometimes diminished visual acuity at an early age. The characteristic phenotype and known genetic cause of the syndrome provide an opportunity to study the role of hypoxia-inducible factor 2α (HIF-2α) in oxygen sensing, development in regions of physiologic hypoxia, and other pathological processes.

Objectives: To describe the ocular lesions in EPAS1 gain-of-function mutation syndrome and to establish whether early-onset diminished visual acuity is developmental or associated with long-term physiologic sequelae of the syndrome. Read More

Pediatr Blood Cancer 2020 Apr 25;67(4):e28096. Epub 2019 Dec 25.

Department of Pathology and Laboratory Medicine, University of Tennessee Health Science Center, Memphis, Tennessee.

We report an index case of a male patient who presented with all clinical manifestations of Pacak-Zhuang syndrome, including early-age polycythemia, multiple pheochromocytomas/paragangliomas, duodenal somatostatinoma, and ocular findings. Sequencing analysis detected an EPAS1 mutation in all tumors tested, but not in the germline. Read More

Arkh Patol 2019 ;81(5):11-21

M.F.Vladimirsky Moscow Regional Research Clinical Institute, Moscow, Russia.

An important role in the differentiation of tissues in different organs is played by transforming factors (TFs); pancreatic and duodenal homebox 1 (PDX-1) is one of the earliest factors for pancreatic cells. Many malignant tumors, including neuroendocrine tumors (NETs), are similar in structure, and therefore the actual problem of oncomorphology is to search for narrow-specific markers and TFs.

Aim: to comparatively analyze and assess the value of the expression of the TF PDX-1 in NETs and non-NETs of different localization and histogenetic origin. Read More

Endocrinol Diabetes Metab 2019 Oct 27;2(4):e00083. Epub 2019 Jun 27.

Division of Endocrinology and Diabetes, Department of Internal Medicine University Hospital of Zurich Zurich Switzerland.

Introduction: Somatostatin-secreting neuroendocrine tumours may present with diabetes, cholelithiasis and steatorrhoea. In addition, hypoglycaemia has been associated with somatostatinomas. However, the mechanism of hypoglycaemia in patients with somatostatinomas has not been well characterized. Read More

Case Rep Gastrointest Med 2019 9;2019:9506405. Epub 2019 May 9.

Division of Gastroenterology, Providence-Providence Park Hospital and Medical Center, Michigan State University/College of Human Medicine, Southfield, Michigan, USA.

Somatostatinoma is a rare neuroendocrine tumor with an incidence rate of 1 in 40 million people. It presents mostly as asymptomatic tumor diagnosed incidentally on imaging or surgery when evaluating or treating possible causes of abdominal pain. It also can present with vague symptoms, or as a clinical triad of glucose intolerance, steatorrhea, and achlorhydria. Read More

Int J Mol Sci 2019 Jun 10;20(11). Epub 2019 Jun 10.

Surgical Neurology Branch, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD 20892, USA.

A syndrome of multiple paragangliomas/pheochromocytomas, somatostatinoma, and polycythemia due to somatic mosaic gain-of-function mutation of , encoding HIF-2α, was previously described. HIF-2α has been implicated in endochondral and intramembranous ossification. Abnormal bone growth of the skull base may lead to Chiari malformation type I. Read More

Cancers (Basel) 2019 May 14;11(5). Epub 2019 May 14.

Neuro-Oncology Branch, Center for Cancer Research, National Cancer Institute, Bethesda, MD 20892, USA.

We previously identified a novel syndrome in patients characterized by paraganglioma, somatostatinoma, and polycythemia. In these patients, polycythemia occurs long before any tumor develops, and tumor removal only partially corrects polycythemia, with recurrence occurring shortly after surgery. Genetic mosaicism of gain-of-function mutations of the gene (encoding HIF2α) located in the oxygen degradation domain (ODD), typically p. Read More

Curr Radiopharm 2019 ;12(2):135-155

Hammersmith Hospital, Imperial College Healthcare NHS Trust, London W12 0HS, United Kingdom.

Introduction: Pancreatic Neuroendocrine Tumours (p-NETs) are an important disease entity and comprise of peptide-secreting tumours often with a functional syndrome. Accounting for a small percentage of all pancreatic tumours, they have a good overall survival rate when diagnosed early, with surgery being curative. The role of nuclear medicine in the diagnosis and treatment of these tumours is evident. Read More

Cancer 2019 04 15;125(8):1258-1266. Epub 2019 Jan 15.

Section on Medical Neuroendocrinology, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland.

Background: Somatic mutations in hypoxia-inducible factor 2α (HIF2A) are associated with polycythemia-paraganglioma syndrome. Specifically, the classic presentation of female patients with recurrent paragangliomas (PGLs), polycythemia (at birth or in early childhood), and duodenal somatostatinomas has been described. Studies have demonstrated that somatic HIF2A mutations occur as postzygotic events and some to be associated with somatic mosaicism affecting hematopoietic and other tissue precursors. Read More

BMJ Case Rep 2019 Jan 10;12(1). Epub 2019 Jan 10.

Division of Endocrinology, Department of Internal Medicine, Texas Tech University Health Science Center School of Medicine, Lubbock, Texas, USA.

Somatostatinomas are rare neuroendocrine tumours, mostly located in the pancreas or duodenum, with an estimated incidence of 1 in 40 million. Duodenal somatostatinomas (DSs) are usually found in association with neurofibromatosis type 1 (NF1), tuberous sclerosis and Von Hippel-Lindau syndrome. Gastrointestinal stromal tumours (GIST) have also been described in NF1, but the association with somatostatinoma is very uncommon. Read More

Neuro Endocrinol Lett 2018 Sep;39(3):149-155

Clinical Department of Endocrinology, Jagiellonian University in Krakow, Poland.

Neurofibromatosis type 1 (NF1, von Recklinghausen disease) is inherited in autosomal dominant way genetic disorder, with an incidence at birth 1:3000. It is one of the most common congenital disorders. It is characterized by café-au-lait spots, neurofibromas, and less common MPTST and gliomas of the optic nerve. Read More

Eur J Endocrinol 2018 10 1;179(4):219-228. Epub 2018 Oct 1.

‘Lendület’ Hereditary Endocrine Tumours Research Group, Hungarian Academy of Sciences – Semmelweis University, Budapest, Hungary

Objective: Pancreatic neuroendocrine neoplasms (PanNENs) are rare tumors arising from the endocrine pancreas; however, their prognosis differs significantly upon their proliferative state, which is characterized by histopathological grading. MiRNAs are small, noncoding RNAs posttranscriptionally regulating gene expression. Our aim was to identify miRNAs with altered expression upon proliferation which can be used as prognostic biomarkers in PanNENs. Read More

Adv Anat Pathol 2019 Jan;26(1):13-30

Departments of Pathology, Massachusetts General Hospital, Boston, MA.

This review focuses on discussing the main modifications of the recently published 2017 WHO Classification of Neoplasms of the Neuroendocrine Pancreas (panNEN). Recent updates separate pancreatic neuroendocrine tumors into 2 broad categories: well-differentiated pancreatic neuroendocrine tumors (panNET) and poorly differentiated pancreatic neuroendocrine carcinoma (panNEC), and incorporates a new subcategory of "well-differentiated high-grade NET (G3)" to the well-differentiated NET category. This new classification algorithm aims to improve the prediction of clinical outcomes and survival and help clinicians select better therapeutic strategies for patient care and management. Read More

Gland Surg 2018 Feb;7(1):20-27

Department of Medical Sciences, Endocrine Oncology, Uppsala University Hospital, Uppsala, Sweden.

Pancreatic neuroendocrine tumors (pNETs) constitute a heterogenous group of malignancies with varying clinical presentation, tumor biology and prognosis. The incidence of pNETs has steadily increased during the last decades with an estimated incidence 2012 of 4.8/100,000. Read More

Pancreas 2018 Apr;47(4):e19-e20

Department of Gastrointestinal Surgery and Liver Transplantation AIIMS New Delhi, India Department of Pathology AIIMS New Delhi, India Department of Radiodiagnosis AIIMS New Delhi, India Department of Gastrointestinal Surgery and Liver Transplantation AIIMS New Delhi, India.

Eur J Cancer 2017 11 22;86:1-4. Epub 2017 Sep 22.

Section on Medical Neuroendocrinology, Eunice Kennedy Shriver NICHD, NIH, Building 10, CRC, Room 1E-3140, 10 Center Drive MSC-1109, Bethesda, MD 20892-1109, USA. Electronic address:

Paragangliomas (PGLs) belong to the most hereditary endocrine tumours. The existence of mutated HIF2A in these tumours, the role of oncometabolites on HIFs stabilisation and a recent concept proposing how hereditary PGLs converge on the hypoxia-signalling pathway, brought solid evidence of the existence of PGL hypoxiom. Hypoxia-inducible factor 2alpha (HIF-2α) antagonists -PT2385, and PT2399 have been shown to have promising results in the management of clear cell renal cell carcinoma by targeting the HIF-2α pathway in recent and ongoing clinical trials (PT2799). Read More

Pathology 2017 Aug 8;49(5):553-555. Epub 2017 Jul 8.

Department of Anatomical Pathology, St George Hospital, Sydney, NSW, Australia.

Rev Med Suisse 2017 May;13(565):1158-1162

Service d'endocrinologie, diabétologie, hypertension et nutrition, HUG, 1211 Genève 14.

An endocrine disease can be associated with glucose intolerance or diabetes mellitus, and the latter can falsely be considered as type 2 diabetes. Glycemic imbalance can be a direct or indirect consequence of excessive hormone production. Endocrine diseases such as acromegaly, Cushing's syndrome and pheochromocytoma can increase glucose production and cause insulin resistance. Read More

Turk Neurosurg 2017 May 7. Epub 2017 May 7.

Ankara University Faculty of Medicine, Department of Endocrinology and Metabolism.

Treatment of aggressive pituitary tumors may be challenging. Temozolomide (TMZ) is a promising agent when conventional treatment methods fail. We present three patients with aggressive pituitary tumors with atypical morphology, who were resistant to conventional treatments and treated with TMZ. Read More

J Nucl Med 2017 08 23;58(8):1236-1242. Epub 2017 Mar 23.

Section on Medical Neuroendocrinology, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland

Pheochromocytoma/paraganglioma (PPGL) syndromes associated with polycythemia have previously been described in association with mutations in the von Hippel-Lindau gene. Recently, mutations in the prolyl hydroxylase gene () 1 and 2 and in the hypoxia-inducible factor 2 α () were also found to be associated with multiple and recurrent PPGL. Such patients also presented with PPGL and polycythemia, and later on, some presented with duodenal somatostatinoma. Read More

Clin Gastroenterol Hepatol 2017 05 23;15(5):A25-A26. Epub 2017 Jan 23.

Division of Gastroenterology, Vancouver General Hospital, University of British Columbia, Vancouver, Canada.

Endocr Relat Cancer 2016 12 27;23(12):899-908. Epub 2016 Sep 27.

Section on Medical NeuroendocrinologyEunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland, USA

Worldwide, the syndromes of paraganglioma (PGL), somatostatinoma (SOM) and early childhood polycythemia are described in only a few patients with somatic mutations in the hypoxia-inducible factor 2 alpha (HIF2A). This study provides detailed information about the clinical aspects and course of 7 patients with this syndrome and brings into perspective these experiences with the pertinent literature. Six females and one male presented at a median age of 28 years (range 11-46). Read More

Neoplasia 2016 09;18(9):567-76

Section of Medical Neuroendocrinology, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD, USA. Electronic address:

Recently, activating mutations of the hypoxia-inducible factor 2α gene (HIF2A/EPAS1) have been recognized to predispose to multiple paragangliomas (PGLs) and duodenal somatostatinomas associated with polycythemia, and ocular abnormalities. Previously, mutations in the SDHA/B/C/D, SDHAF2, VHL, FH, PHD1, and PHD2 genes have been associated with HIF activation and the development of pseudohypoxic (cluster-1) PGLs. These tumors overlap in terms of tumor location, syndromic presentation, and noradrenergic phenotype to a certain extent. Read More

J Vis Exp 2016 08 7(114). Epub 2016 Aug 7.

Correlative Microscopy Group, Ingham Institute for Applied Medical Research; Electron Microscopy Laboratory, Department of Anatomical Pathology, Sydney South West Pathology Service, New South Wales Health Pathology; School of Medical Sciences, Faculty of Medicine, University of New South Wales Australia.

A method is described whereby quantum dot (QD) nanoparticles can be used for correlative immunocytochemical studies of human pathology tissue using widefield fluorescence light microscopy and transmission electron microscopy (TEM). To demonstrate the protocol we have immunolabeled ultrathin epoxy sections of human somatostatinoma tumor using a primary antibody to somatostatin, followed by a biotinylated secondary antibody and visualization with streptavidin conjugated 585 nm cadmium-selenium (CdSe) quantum dots (QDs). The sections are mounted on a TEM specimen grid then placed on a glass slide for observation by widefield fluorescence light microscopy. Read More

Indian J Pathol Microbiol 2016 Jul-Sep;59(3):359-61

Department of Pathology, All India Institute of Medical Sciences, New Delhi, India.

Neurofibromatosis type-1 (NF-1) is an autosomal dominant disorder, with increased risk of developing benign and malignant tumors of the gastrointestinal tract (GIT). However, the synchronous presence of multiple GIT stromal tumors and duodenal submucosal somatostatinoma, like in this 50-year-old female NF-1 patient, is very rare. She presented with hematemesis, malena, along with multiple neurofibromas all over the body. Read More

Hosp Pract (1995) 2016 Aug 18;44(3):109-19. Epub 2016 Jul 18.

a Department of Internal Medicine, Division of Gastroenterology and Hepatology , University of Utah School of Medicine, Huntsman Cancer Center , Salt Lake City , Utah , USA.

Pancreatic neuroendocrine tumors (PNETs) are neoplasms that arise from the hormone producing cells of the islets of Langerhans, also known as pancreatic islet cells. PNETs are considered a subgroup of neuroendocrine tumors, and have unique biology, natural history and clinical management. These tumors are classified as 'functional' or 'non-functional' depending on whether they release peptide hormones that produce specific hormone- related symptoms, usually in established patterns based on tumor subtype. Read More

Endoscopy 2016 14;48 Suppl 1:E135-7. Epub 2016 Apr 14.

Departments of Surgery and Anatomy, Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo, Ribeirão Preto, São Paulo, Brazil.

Surg Oncol Clin N Am 2016 Apr 18;25(2):363-74. Epub 2016 Feb 18.

Department of Surgery, Helen F. Graham Cancer Center, 4701 Ogletown-Stanton Road, S-4000, Newark, DE 19713, USA.

Pancreatic neuroendocrine tumors are a rare group of neoplasms that arise from multipotent stem cells in the pancreatic ductal epithelium. Although they comprise only 1% to 2% of pancreatic neoplasms, their incidence is increasing. Most pancreatic neuroendocrine tumors are nonfunctioning, but they can secrete various hormones resulting in unique clinical syndromes. Read More

Intern Med 2016 15;55(6):617-22. Epub 2016 Mar 15.

Department of Gastroenterology and Hepatology, Saitama Medical Center, Saitama Medical University, Japan.

We herein describe a case of somatostatinoma coexisting with a gastrointestinal stromal tumor (GIST) in the duodenum of an 81-year-old woman with Von Recklinghausen's disease (VRD) and common bile duct stone who presented with diarrhea of three months in duration. Gastroduodenoscopy revealed an ulcer on the second part of the duodenum. A 2. Read More

Best Pract Res Clin Endocrinol Metab 2016 Jan 23;30(1):3-17. Epub 2015 Oct 23.

Yale University School of Medicine, New Haven, CT, USA.

The discovery of neuroendocrine tumours of the gastrointestinal tract and pancreas started in 1870, when Rudolf Heidenhain discovered the neuroendocrine cells, which can lead to the development of these tumours. Siegfried Oberndorfer was the first to introduce the term carcinoid in 1907. The pancreatic islet cells were first described in 1869 by Paul Langerhans. Read More

ACG Case Rep J 2016 Jan 20;3(2):109-11. Epub 2016 Jan 20.

Department of Medicine, Division of Gastroenterology, Wake Forest Baptist Hospital, Winston-Salem, NC.

Somatostatinoma of the gastrointestinal tract is a rare finding, especially arising from the ampulla of Vater. We present a man recently diagnosed with rectal adenocarcinoma who was found on imaging to have an ampullary mass. Histology and immunohistochemical staining of the biopsied tissue were consistent with a nonfunctioning somatostatinoma. Read More

Neuroendocrinology 2016 28;103(5):567-77. Epub 2015 Oct 28.

Background/objective: Neuroendocrine neoplasms of the pancreas and duodenum with predominant or exclusive immunoreactivity for somatostatin (pdSOMs) are rare, and knowledge about tumour biology, treatment, survival and prognostic factors is limited. This study aims to describe clinical, pathological and biochemical features as well as treatment and prognosis of pdSOMs.

Design: Twenty-three patients with pdSOM (9 duodenal, 12 pancreatic and 2 unknown primary tumours) were identified from our prospective neuroendocrine tumour database, and data according to the study aims were recorded. Read More

South Afr J HIV Med 2015 26;16(1):323. Epub 2015 Jun 26.

Department of Internal Medicine, Tshepong Hospital, University of the Witwatersrand, South Africa.

We report the case of an HIV-positive female patient with neurofibromatosis type 1 who was treated for recurrent peptic ulcer disease and later developed diabetes mellitus and chronic diarrhoea. A metastasising somatostatinoma was histologically proven and evidence of a concomitant gastrin-producing neuroendocrine tumour was found. Neuroendocrine tumours (NETs) are very rare neoplasms originating from a wide variety of endocrine and nervous system tissue with the ability to produce different hormones. Read More

J Hepatobiliary Pancreat Sci 2015 Aug 17;22(8):578-85. Epub 2015 Feb 17.

Neuroendocrine Tumor Unit, Endocrinology and Metabolism Service, Department of Medicine, Hadassah-Hebrew University Medical Center, P.O.B. 12000, Jerusalem, 91120, Israel.

Pancreatic neuroendocrine tumors (PNETs), also known as islet cell tumors, are rare neoplasms that arise in the endocrine tissues of the pancreas. Most of pancreatic NETs (50-75%) are nonfunctioning (not associated with a hormonal clinical syndrome); however, in up to one third they can secrete a variety of peptide hormones, including insulin, gastrin, glucagon, vasoactive intestinal peptide, somatostatin etc., resulting in rare but unique clinical syndromes. Read More

JOP 2015 Jan 31;16(1):81-4. Epub 2015 Jan 31.

Department of Surgery, University of Melbourne, Austin Health. Heidelberg, Melbourne, Victoria, Australia.

Context: Somatostatinoma arising from the minor papilla in a patient with neurofibromatosis type 1 (NF1) is a known but very rare condition, which may cause non-specific symptoms and can present because of its mass effect.

Case Report: A fifty-year-old female presenting with ongoing non-specific abdominal pain for a few months duration was found to have a mass involving the minor papilla. She had a history of NF1 but was otherwise well. Read More

Hum Genome Var 2015 10;2:15053. Epub 2015 Dec 10.

Surgical Neurology Branch, National Institute of Neurological Disorders and Stroke, National Institutes of Health , Bethesda, MD, USA.

We recently described a novel, non-inherited syndrome of tumor-specific mutations of hypoxia-inducible factor 2α, encoded by EPAS1, leading to formation of multiple paragangliomas and somatostatinomas in the setting of congenital polycythemia. Although we had suspected that somatic mosaicism of EPAS1 mutations was the underlying cause of tumorigenesis, we could not validate this theory in our initial findings. In this report, we developed a sensitive, peptide nucleic acid sequencing assay to uncover the presence of EPAS1 mutations in blood and other somatic tissues of the two patients who were described in the initial characterization of this syndrome. Read More

Endoscopy 2014 19;46 Suppl 1 UCTN:E664-5. Epub 2014 Dec 19.

Endoscopy Service, Department of Diagnostic and Therapeutic Services, Mediterranean Institute for Transplantation and Advanced Specialized Therapies (ISMETT), Palermo, Italy.

JOP 2014 Nov 28;15(6):600-3. Epub 2014 Nov 28.

Department of Gastrointestinal Surgery, Nottingham Digestive Diseases Centre National Institute of Health Research Biomedical Research Unit, Nottingham University Hospitals NHS Trust, Queen's Medical Centre. Nottingham, UK.

Context: Gastrointestinal (GI) involvement is present in about one quarter of cases of neurofibromatosis type 1 (NF1). Adenocarcinomas have been reported in several organs. Gastrointestinal stromal tumors are the most common GI lesion seen in NFI. Read More

Ophthalmology 2014 Nov 8;121(11):2291-3. Epub 2014 Aug 8.

Surgical Neurology Branch, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, Maryland.

Physiol Res 2014 ;63 Suppl 2:S251-62

Department of Internal Medicine, Faculty of Medicine, P. J. Šafárik University, Košice, Slovakia; Section on Medical Neuroendocrinology, Program in Reproductive and Adult Endocrinology, Eunice Kennedy Shriver NICHD, NIH, Bethesda, MD, USA.

Hypoxia-inducible factors (HIFs) are transcription factors controlling energy, iron metabolism, erythropoiesis, and development. Dysregulation of these proteins contributes to tumorigenesis and cancer progression. Recent findings revealed the important role of HIFs in the pathogenesis of neuroendocrine tumors, especially pheochromocytoma (PHEO) and paraganglioma (PGL). Read More

Pediatrics 2014 Jun 12;133(6):e1787-91. Epub 2014 May 12.

Departments of Pediatrics.

Recently, a new syndrome of paraganglioma, somatostatinoma, and polycythemia has been discovered (known as Pacak-Zhuang syndrome). This new syndrome, with somatic HIF2A gain-of-function mutations, has never been reported in male patients. We describe a male patient with Pacak-Zhuang syndrome who carries a newly discovered HIF2A mutation. Read More