Unusual Clinical and Pathological Presentation of a Neuroendocrine Tumor in a Patient with Multiple Endocrine Neoplasia Type 1
スポンサーリンク
概要
- 論文の詳細を見る
Neuroendocrine tumors develop in various organs in patients with multiple endocrine neoplasia type 1 (MEN 1). Among those, tumors developed in upper gastrointestinal tract, thymus and bronchus have historically been called "carcinoid tumor". Occurrence of "carcinoid tumor" in other region is very rare and molecular pathogenesis of such tumors is unknown. We have experienced a patient with MEN1 who have developed an "ectopic" retroperitoneal neuroendocrine tumor. Genetic analysis of the MEN1 gene in tumor cells revealed a somatic mutation in exon 9 as well as a germline mutation in exon 10. Allele-specific amplification followed by sequence analysis revealed these two mutations exist on the different allele, indicating both alleles are functionally inactivated. Immunohistochemical staining with an anti-menin antibody revealed that wild-type menin is not expressed in tumor cells. Expression of p27(Kip1) protein is not observed in tumor cells, either. These results confirmed the inactivation of the MEN1 gene as a genetic cause of an ectopically developed neuroendocrine tumor in a patient with MEN1.
- 2009-10-20
著者
-
UCHINO SHINYA
Noguchi Thyroid Clinic and Hospital Foundation
-
FUKUSHIMA Yoshimitsu
Department of Medical Genetics, Shinshu University School of Medicine
-
SAKURAI Akihiro
Department of Aging Medicine and Geriatrics, Shinshu University
-
Sakurai Akihiro
Dep. Of Medical Genetics Shinshu Univ. School Of Medicine Matsumoto Jpn
-
Sakurai Akihiro
Department Of Medical Genetics Shinshu University School Of Medicine
-
Sakurai Akihiro
Department Of Aging Medicine And Geriatrics Shinshu University Graduate School Of Medicine
-
Murakami Akiko
Noguchi Thyroid Clinic And Hospital Foundation
-
Sano Kenji
Department of Laboratory Medicine, Shinshu University Hospital
-
Fukushima Yoshimitsu
Department Of Medical Genetics Shinshu University School Of Medicine
-
Sano Kenji
Department Of Laboratory Medicine Shinshu University School Of Medicine
-
Fukushima Yoshimitsu
Department Of Hygiene And Medical Genetics Shinshu University School Of Medicine
-
Sano Kenji
Department Of Laboratory Medicine School Of Medicine Shinshu University
-
Fukushima Yoshimitsu
Department Of Human Genetics Shinshu University School Of Medicine
-
Sano Kenji
Department Of Applied Chemistry Faculty Of Engineering Toyama University
-
Uchino Shinya
Noguchi Thyroid Clinic And Hospital Foundation Beppu Jpn
関連論文
- Biopsy-proven Tuberculous Meningitis Mimicking CNS Sarcoidosis
- Significant Clinical Differences in Primary Hyperparathyroidism Between Patients with and Those Without Concomitant Thyroid Disease
- Thyroid Evaluation in Patients with Primary Hyperparathyroidism
- Crank-Shaped Sternotomy for Upper Mediastinal Lymph Node Dissection in Patients with Differentiated Thyroid Cancer
- Intraoperative Parathyroid Hormone Levels Measured by Intact and Whole Parathyroid Hormone Assays in Patients with Graves' Disease
- NIS mRNA Expression Level in Resected Thyroid Tissue as a Marker of Postoperative Hypothyroidism after Subtotal Thyroidectomy in Patients with Graves' Disease
- Is a Bilateral Modified Radical Neck Dissection Beneficial for Patients with Papillary Thyroid Cancer?
- High Prevalence of Vitamin D Deficiency in Japanese Female Patients with Graves' Disease
- Somatic Mutations in RET Exons 12 and 15 in Sporadic Medullary Thyroid Carcinomas: Different Spectrum of Mutations in Sporadic Type from Hereditary Type
- Presymptomatic Detection and Treatment of Japanese Carriers of the Multiple Endocrine Neoplasia Type 2A Gene
- Novel Point Mutations and Allele Los at the RET Locus in Sporadic Medullary Thyroid Carcinomas
- Thyroid Cancer Associated with Adenomatous Goiter: An Analysis of the Incidence and Clinical Factors
- Serum Fragmented Cytokeratin 18 Levels Reflect the Histologic Activity Score of Nonalcoholic Fatty Liver Disease More Accurately Than Serum Alanine Aminotransferase Levels
- The IHPK1 gene is disrupted at the 3p21. 31 breakpoint of t(3 ; 9) in a family with type 2 diabetes mellitus
- Molecular characterization of a novel translocation t(5 ; 14)(q21 ; q32) in a patient with congenital abnormalities
- Frequency of Facial Angiofibromas in Japanese Patients with Multiple Endocrine Neoplasia Type 1
- A genomewide linkage analysis of Kawasaki disease : evidence for linkage to chromosome 12
- OJ-256 Incremental Diagnostic Value of Fusion Imaging from Stress Myocardial Scintigraphy and Coronary Multi-slice CT(OJ43,Nuclear Cardiology (Coronary, Myocardium) (I),Oral Presentation (Japanese),The 73rd Annual Scientific Meeting of The Japanese Circul
- Usefulness of ^TlCl/^I-BMIPP dual-myocardial SPECT for patients with non-ST segment elevation myocardial infarction
- A novel gene is disrupted at a 14q13 breakpoint of t(2;14) in a patient with mirror-image polydactyly of hands and feet
- Guidelines for genetic testing
- Familial 14-Mb deletion at 21q11.2-q21.3 and variable phenotypic expression
- Pheochromocytoma Arising from an Accessory Adrenal Gland in a Patient with Multiple Endocrine Neoplasia Type 2A: Transient Development of Clinical Manifestations after Hemorrhagic Necrosis
- Duodenal Somatostatinoma and Erythrocytosis in a Patient with Von Hippel-Lindau Disease Type 2A
- A novel splicing mutation of the ATRX gene in ATR-X syndrome
- The gene for mesomelic dysplasia Kantaputra type is mapped to chromosome 2q24-q32
- Octreotide as a Rapid and Effective Painkiller for Metastatic Carcinoid Tumor
- A Case of Familial Isolated Hyperparathyroidism with Ectopic Parathyroid Cancer
- Characterization of the MEN1 Gene Product, Menin, by Site-specific Polyclonal Antibodies
- Multiple Endocrine Neoplasia Type 1 Is Not Rare in Japan
- Serial assessment of left ventricular performance at rest and during bicycle exercise by ECG-gated myocardial perfusion SPECT
- Unusual Clinical and Pathological Presentation of a Neuroendocrine Tumor in a Patient with Multiple Endocrine Neoplasia Type 1
- Less Frequent NSD1-Intragenic Deletions in Japanese Sotos Syndrome: Analysis of 30 Patients by NSD1-Exon Array CGH, Quantitative Fluorescent Duplex PCR, and Fluorescence In Situ Hybridization
- A Patient with Advanced Hepatocellular Carcinoma Treated with Sorafenib Tosylate Showed Massive Tumor Lysis with Avoidance of Tumor Lysis syndrome
- Assessment of contractile response to dobutamine stress by means of ECG-gated myocardial SPECT : Comparison with myocardial perfusion and fatty acid metabolism
- Assessment of left ventricular function using solid-state gamma camera equipped with a highly-sensitive collimator
- Assessment of myocardial washout of Tc-99m-sestamibi in patients with chronic heart failure : Comparison with normal control
- Distinct clinicopathological entity 'autoimmune pancreatitis-associated sclerosing cholangitis'
- Long-term Follow-up of Patients with Multiple Endocrine Neoplasia Type 1
- Chromogranin A Expression in Hepatocellular Carcinoma in a Patient with Germline MEN1 Gene Mutation
- Current Status of Clinical Care for Familial Endocrine Tumor Syndromes in Japan
- Validation of fast-RAMLA in clinical PET
- Intussusception of the appendix : A report of three cases with different clinical and pathologic features
- Novel MEN1 gene mutations in familial multiple endocrine neoplasia type 1
- Multiple Brain Tumors of Diffuse Large B Cell Lymphoma in a Patient with Waldenstrom's Macroglobulinemia/Lymphoplasmacytic Lymphoma : PCR and DNA Sequence Analysis Show Evidence of Differences in Clonality of the Two B Cell Malignancies
- Helicobacter heilmannii infection : Clinical, endoscopic and histopathological features in Japanese patients
- A Convenient Synthetic Method for Preparing 2,5-Disubstituted 1,6-Methano[10]annulenes from 1,6-Diacetylcyclohepta-1,3,5-triene
- Application of short tandem repeat of genomic DNA and mitochondrial DNA for identification of mixed-up tissue specimens
- Epilepsy and neurological findings in 11 individuals with 1p36 deletion syndrome
- Hyperfunctioning Thyroid Adenoma Concomitant with Papillary Thyroid Carcinoma, Follicullar Thyroid Adenoma and Primary Hyperparathyroidism
- Pituitary Adenomas in Adolescent Patients with Multiple Endocrine Neoplasia Type 1
- Large fontanelles are a shared feature of haploinsufficiency of RUNX2 and its co-activator CBFB
- Autoimmune pancreatitis-associated prostatitis : Distinct clinicopathological entity
- Ocular Discomfort at the Initial Wearing of Rigid Gas Permeable Contact Lenses
- Clinical applications of two-color telomeric fluorescence in situ hybridization for prenatal diagnosis : Identification of chromosomal translocation in five families with recurrent miscarriages or a child with multiple congenital anomalies
- Sequelae of Sarin Toxicity at One and Three Years After Exposure in Matsumoto, Japan
- Insulinoma in a Patient with Non-Insulin-Dependent Diabetes Mellitus
- Progressive Scoliosis in Cri-Du-Chat Syndrome Over a 20-Year Follow-Up Period : A Case Report
- Carbachol-Induced Secretion and Homologous Desensitization in Rat Basophilic Leukemia (RBL-2H3) Cells Transfected With Human m2 Muscarinic Acetylcholine Receptors
- Articular disc displacement in mandibular asymmetry patients
- Genetic Screening in Hereditary Multiple Endocrine Neoplasia Type 1: Absence of a Founder Effect among Japanese Families
- Histological diversity of vasculitic lesions in MPO-ANCA-positive autopsy cases
- A rat model of hypereosinophilic syndrome
- Intravascular fasciitis of the forearm vein: A case report with immunohistochemical characterization
- Chemokine CCL2 facilitates ICAM-1-mediated interactions of cancer cells and lymphatic endothelial cells in sentinel lymph nodes
- Accurate and simple method for quantification of hepatic fat content using magnetic resonance imaging : a prospective study in biopsy-proven nonalcoholic fatty liver disease
- Primary Gastric Diffuse Large B-cell Lymphoma with Orbital Involvement: Diagnostic Usefulness of 18F-fluorodeoxyglucose Positron Emission Tomography
- Macrofollicular variant of papillary thyroid carcinoma
- Discordance Between the Morphological and Physiological Information of 64-Slice MSCT Coronary Angiography and Myocardial Perfusion Imaging in Patients With Intermediate to High Probability of Coronary Artery Disease
- Intestinal Angina Due to Atherosclerosis in a 45-year-old Systemic Lupus Erythematosus Patient
- ENDOSCOPIC IDENTIFICATION OF HELICOBACTER PYLORI GASTRITIS IN CHILDREN
- DOPAMINE RECEPTORS AND ADENYLATE CYCLASE IN CAUDATE NUCLEUS
- Clinical characteristics of de novo nonalcoholic fatty liver disease following pancreaticoduodenectomy
- Pitfalls of chromosome analysis
- Application of a new histological staging and grading system for primary biliary cirrhosis to liver biopsy specimens : Interobserver agreement
- Comprehensive genetics clinic for familial tumors : proposal for a suitable system in Japan
- Production of a Solid Density Plasma by a Plasma Focus Discharge
- A Case of Initially Undiagnosed Hypoadrenalism Presenting Inappropriate Secretion of Anti-Diuretic Hormone
- Breakpoint determination of X;autosome balanced translocations in four patients with premature ovarian failure
- Clinical application of array-based comparative genomic hybridization by two-stage screening for 536 patients with mental retardation and multiple congenital anomalies
- Molecular karyotyping in 17 patients and mutation screening in 41 patients with Kabuki syndrome
- Cerebral hemorrhage in Fabry's disease
- A novel splice site mutation of the MEN1 gene identified in a patient with primary hyperparathyroidism
- Delay in the diagnosis of multiple endocrine neoplasia type 1 : typical symptoms are frequently overlooked
- Clinical features of insulinoma in patients with multiple endocrine neoplasia type 1 : analysis of the database of the MEN Consortium of Japan
- Richter Transformation in the Brain from Chronic Lymphocytic Leukemia
- Liver Dysfunction and Thrombocytopenia Diagnosed as Intravascular Large B-cell Lymphoma Using a Timely and Accurate Transjugular Liver Biopsy
- Investigation of Antimuscarinic Receptor Autoantibodies in Patients with Acquired Idiopathic Generalized Anhidrosis
- Carbachol-Induced Secretion and Homologous Desensitization in Rat Basophilic Leukemia (RBL-2H3) Cells Transfected With Human m2 Muscarinic Acetylcholine Receptors
- Plasma free metanephrines in the diagnosis of pheochromocytoma: diagnostic accuracy and strategies for Japanese patients