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Hereditary pancreatitis

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https://www.readbyqxmd.com/read/28530019/men1-in-children-and-adolescents-data-from-patients-of-a-regional-referral-center-for-hereditary-endocrine-tumors
#1
Letizia Vannucci, Francesca Marini, Francesca Giusti, Simone Ciuffi, Francesco Tonelli, Maria Luisa Brandi
PURPOSE: To retrospectively evaluate the age of onset of MEN1-associated lesions in a group of affected children and adolescents and to compare the clinical features of our series with the evidence derived from the literature. METHODS: The study population consisted of 22 Italian children and adolescents (age 6-31 years at the time of the inclusion in this study) all with a clinical and/or a genetic diagnosis of MEN1 performed before the age of 16 who have been followed-up regularly from 1998 to 2016 at the Regional Referral Center for Hereditary Endocrine Tumors...
May 22, 2017: Endocrine
https://www.readbyqxmd.com/read/28503312/germline-and-somatic-genetic-changes-in-multicentric-tumors-obtained-from-a-patient-with-multiple-endocrine-neoplasia-type-1
#2
Akane Naruoka, Sumiko Ohnami, Takeshi Nagashima, Masakuni Serizawa, Keiichi Ohshima, Shumpei Ohnami, Kenichi Urakami, Yasue Horiuchi, Yoshimi Kiyozumi, Masato Abe, Takashi Nakajima, Teiichi Sugiura, Katsuhiko Uesaka, Masatoshi Kusuhara, Ken Yamaguchi
Multiple endocrine neoplasia type 1 (MEN1) is a hereditary cancer syndrome caused by germline mutations of the MEN1 gene located in chromosome 11q13. In patients with MEN1, multicentric tumors develop in the involved organs; however, precise evaluation of genetic changes in these multicentric tumors has not been performed. In the present study, using whole-exome sequencing, we analyzed germline and somatic genetic changes in blood cells, two pancreatic endocrine tumors and one duodenal tumor obtained from a patient with MEN1 gastrinoma...
2017: Human Genome Variation
https://www.readbyqxmd.com/read/28484856/-hereditary-gastric-and-pancreatic-cancer
#3
REVIEW
C Langner
Most cases of gastric and pancreatic cancer are sporadic, but familial clustering can be observed in approximately 10% of cases. Hereditary gastric cancer accounts for a very low percentage of cases (1-3%) and two syndromes have been characterized: hereditary diffuse gastric cancer (HDGC) and gastric adenocarcinoma and proximal polyposis of the stomach (GAPPS). Gastric and pancreatic cancer can develop in the setting of other hereditary cancer syndromes, such as hereditary breast and ovarian cancer syndrome (HBOC), Li-Fraumeni syndrome, Lynch syndrome, familial adenomatous polyposis (FAP), or various hamartomatous polyposis syndromes, including juvenile polyposis and Peutz-Jeghers syndrome...
May 8, 2017: Der Pathologe
https://www.readbyqxmd.com/read/28469779/analysis-of-differentially-expressed-micrornas-in-men1-parathyroid-adenomas
#4
Ettore Luzi, Simone Ciuffi, Francesca Marini, Carmelo Mavilia, Gianna Galli, Maria Luisa Brandi
Multiple Endocrine Neoplasia type 1 (MEN1) syndrome is a rare complex tumor-predisposing hereditary disorder, inherited in an autosomal dominant manner (OMIM 131100). MEN1 is characterized by tumors of the parathyroids, the neuroendocrine cells of the gastro-entero-pancreatic tract, and the anterior pituitary. The molecular mechanisms that control parathyroid tumorigenesis are still poorly understood. Here we studied the global microRNAs (miRNAs) expression profile in MEN1 parathyroid adenomas to understand the role of these regulatory factors in MEN1 parathyroid tumorigenesis...
2017: American Journal of Translational Research
https://www.readbyqxmd.com/read/28454282/gastrointestinal-tract-cancers-genetics-heritability-and-germ-line-mutations
#5
Xiao-Peng Lv
Gastrointestinal (GI) tract cancers that arise due to genetic mutations affect a large number of individuals worldwide. Even though many of the GI tract cancers arise sporadically, few of these GI tract cancers harboring a hereditary predisposition are now recognized and well characterized. These include Cowden syndrome, MUTYH-associated polyposis, hereditary pancreatic cancer, Lynch syndrome, Peutz-Jeghers syndrome, familial adenomatous polyposis (FAP), attenuated FAP, serrated polyposis syndrome, and hereditary gastric cancer...
March 2017: Oncology Letters
https://www.readbyqxmd.com/read/28454201/-identical-variants-different-disease-course-genetics-of-chronic%C3%A2-pancreatitis
#6
Sebastian Beer, Joachim Mössner
Multiple genetic associations with chronic pancreatitis have been identified. In cases with hereditary pancreatitis family history is reported and mostly distinct causative variants in cationic trypsinogen (PRSS1) are identified. Furthermore, variants in other genes of proteases and anti-proteases of the digestive enzyme cascade (SPINK1, CTRC, CPA1), are also associated with chronic pancreatitis. Interestingly, penetrance of associated variants as well as the disease course are variable. As such environmental factors like smoking may play an important role...
May 2017: Deutsche Medizinische Wochenschrift
https://www.readbyqxmd.com/read/28413668/palb2-mutation-in-a-woman-with-bilateral-breast-cancer-a-case-report
#7
Hiroshi Nakagomi, Yosuke Hirotsu, Kenichiro Okimoto, Ikuko Sakamoto, Kenji Amemiya, Satoko Nakagomi, Takeo Kubota, Hitoshi Mochizuki, Masao Omata
Partner and localizer of breast cancer 2 (PALB2) was identified as a moderate-risk gene of breast and pancreas cancer. The present authors previously reported that no PALB2 germline mutations with a deleterious frameshift or stop codons were identified in 155 Japanese patients with breast and/or ovarian cancer who were estimated to be at risk of hereditary cancer, according to the National Comprehensive Cancer Network (NCCN) criteria. In the present study, one patient with a deleterious mutation of PALB2 (c...
April 2017: Molecular and Clinical Oncology
https://www.readbyqxmd.com/read/28401058/a-rare-cause-of-recurrent-acute-pancreatitis-in-a-child-isovaleric-acidemia-with-novel-mutation
#8
Elif Sag, Alper Han Cebi, Gulay Kaya, Gulay Karaguzel, Murat Cakir
Recurrent acute pancreatic attacks is a rare clinical condition (2-5% of all acute pancreatis) in children and is mainly idiopathic in most cases. Sometimes it may be associated with congenital anomalies, metabolic diseases or hereditary conditions. Isovaleric acidemia (IVA) is a rare autosomal recessive amino acid metabolism disorder associated with isovaleryl coenzyme A dehydrogenase deficiency presenting the clinical findings such metabolic acidosis with increased anion gap, hyperammonemia, ketonemia, hypoglycemia, "the odor of sweaty feet," abdominal pain, vomiting, feeding intolerance, shock and coma...
March 2017: Pediatric Gastroenterology, Hepatology & Nutrition
https://www.readbyqxmd.com/read/28385908/isolated-brachydactyly-type-e-and-idiopathic-pancreatitis-in-a-patient-presenting-to-a-lipid-disorders-clinic
#9
Michael M Page, Amanda J Hooper, Paul Glendenning, John R Burnett
An 18-year-old female tertiary student was referred to a lipid clinic with hypertriglyceridaemia discovered after presentation with acute pancreatitis. The patient's only medication was l-thyroxine for treatment of hypothyroidism. She was overweight, normotensive, with unremarkable facies. However, she had hypermobile hand joints and brachydactyly resulting in loss of left 3-5 and right 4 and 5 knuckle definitions. Radiography revealed shortening of metacarpals 3-5 on the left and 4 and 5 on the right. Her mother had similar skeletal changes, consistent with a dominant mode of inheritance...
April 6, 2017: BMJ Case Reports
https://www.readbyqxmd.com/read/28291009/a-family-with-von-hippel-lindau-syndrome-the-findings-of-indium-111-somatostatin-receptor-scintigraphy-iodine-123-metaiodobenzylguanidine-scintigraphy-and-single-photon-emission-computerized-tomography
#10
Pelin Arıcan, Berna Okudan Tekin, Seniha Naldöken, Rıza Şefizade, Dilek Berker
Von Hippel-Lindau syndrome (VHLS) is an autosomal dominant hereditary familial disorder characterized by development of malignant and benign neoplasms. Differential diagnosis of the adrenal and pancreatic masses are difficult in patients with VHLS. Iodine-123 metaiodobenzylguanidine (I-123 MIBG) and indium-111 somatostatin receptor scintigraphies (In-111 SRS) have important roles in the differential diagnosis of adrenal and pancreatic masses in those patients. In this case report, we present the findings of I-123 MIBG single-photon emission computerized tomography (SPECT/CT) and In-111 SRS SPECT/CT in three members of a family with VHLS...
February 5, 2017: Molecular Imaging and Radionuclide Therapy
https://www.readbyqxmd.com/read/28289088/association-between-neuroendocrine-tumors-biomarkers-and-primary-tumor-site-and-disease-type-based-on-total-68-ga-dotatate-avid-tumor-volume-measurements
#11
Amit Tirosh, Georgios Z Papadakis, Corina Millo, Samira M Sadowski, Peter Herscovitch, Karel Pacak, Stephen J Marx, Lily Yang, Pavel Nockel, Jasmine Shell, Patience Green, Xavier M Keutgen, Dhaval Patel, Naris Nilubol, Electron Kebebew
OBJECTIVE: To determine the association between neuroendocrine tumor (NET) biomarker levels and the extent of disease as assessed by (68)Ga DOTATATE PET/CT imaging. DESIGN: A retrospective analysis of a prospective database of patients with NETs. METHODS: Fasting plasma chromogranin A (CgA), neuron-specific enolase (NSE), gastrin, glucagon, vasoactive intestinal peptide (VIP) and pancreatic polypeptide (PP), and 24-h urinary 5-hydroxyindoleacetic acid (5-HIAA) levels were measured...
May 2017: European Journal of Endocrinology
https://www.readbyqxmd.com/read/28286565/everolimus-in-the-management-of-metastatic-neuroendocrine-tumours
#12
REVIEW
David L Chan, Eva Segelov, Simron Singh
Neuroendocrine tumours are increasing in incidence and cause a variety of symptoms. The mammalian target of rapamycin (mTOR) pathway plays a key role in neuroendocrine tumour (NET) pathogenesis, leading to increased lipid synthesis, protein synthesis and cellular growth. Upregulation of this pathway is noted in both hereditary and sporadic NETs. This understanding has led to investigations of mTOR inhibitors as therapy for metastatic NETs. After promising preclinical findings, everolimus, an mTOR inhibitor, was trialled in the RADIANT-1-4 studies on patients with advanced, well differentiated NETs...
January 2017: Therapeutic Advances in Gastroenterology
https://www.readbyqxmd.com/read/28283772/identification-genetic-testing-and-management-of-hereditary-melanoma
#13
Sancy A Leachman, Olivia M Lucero, Jone E Sampson, Pamela Cassidy, William Bruno, Paola Queirolo, Paola Ghiorzo
Several distinct melanoma syndromes have been defined, and genetic tests are available for the associated causative genes. Guidelines for melanoma genetic testing have been published as an informal "rule of twos and threes," but these guidelines apply to CDKN2A testing and are not intended for the more recently described non-CDKN2A melanoma syndromes. In order to develop an approach for the full spectrum of hereditary melanoma patients, we have separated melanoma syndromes into two types: "melanoma dominant" and "melanoma subordinate...
March 2017: Cancer Metastasis Reviews
https://www.readbyqxmd.com/read/28267532/r2-relaxometry-of-the-pancreas-in-patients-with-human-hemochromatosis-protein-associated-hereditary-hemochromatosis
#14
B Henninger, S Rauch, H Zoller, M Plaikner, W Jaschke, C Kremser
PURPOSE: To evaluate pancreatic iron in patients with human hemochromatosis protein associated hereditary hemochromatosis (HHC) using R2* relaxometry. MATERIALS AND METHODS: 81 patients (58 male, 23 female; median age 49.5, range 10-81 years) with HHC were retrospectively studied. All underwent 1.5T magnetic resonance imaging (MRI) of the abdomen. A fat-saturated multi-gradient echo sequence with 12 echoes (TR=200ms; TE-initial 0.99ms; Delta-TE 1.41ms; 12 echoes; flip-angle: 20°) was used for the R2* quantification of the liver and the pancreas...
April 2017: European Journal of Radiology
https://www.readbyqxmd.com/read/28246467/familial-pancreatic-cancer-concept-management-and-issues
#15
REVIEW
Hiroyuki Matsubayashi, Kyoichi Takaori, Chigusa Morizane, Hiroyuki Maguchi, Masamichi Mizuma, Hideaki Takahashi, Keita Wada, Hiroko Hosoi, Shinichi Yachida, Masami Suzuki, Risa Usui, Toru Furukawa, Junji Furuse, Takamitsu Sato, Makoto Ueno, Yoshimi Kiyozumi, Susumu Hijioka, Nobumasa Mizuno, Takeshi Terashima, Masaki Mizumoto, Yuzo Kodama, Masako Torishima, Takahisa Kawaguchi, Reiko Ashida, Masayuki Kitano, Keiji Hanada, Masayuki Furukawa, Ken Kawabe, Yoshiyuki Majima, Toru Shimosegawa
Familial pancreatic cancer (FPC) is broadly defined as two first-degree-relatives with pancreatic cancer (PC) and accounts for 4%-10% of PC. Several genetic syndromes, including Peutz-Jeghers syndrome, hereditary pancreatitis, hereditary breast-ovarian cancer syndrome (HBOC), Lynch syndrome, and familial adenomatous polyposis (FAP), also have increased risks of PC, but the narrowest definition of FPC excludes these known syndromes. When compared with other familial tumors, proven genetic alterations are limited to a small proportion (< 20%) and the familial aggregation is usually modest...
February 14, 2017: World Journal of Gastroenterology: WJG
https://www.readbyqxmd.com/read/28243543/development-and-validation-of-a-36-gene-sequencing-assay-for-hereditary-cancer-risk-assessment
#16
Valentina S Vysotskaia, Gregory J Hogan, Genevieve M Gould, Xin Wang, Alex D Robertson, Kevin R Haas, Mark R Theilmann, Lindsay Spurka, Peter V Grauman, Henry H Lai, Diana Jeon, Genevieve Haliburton, Matt Leggett, Clement S Chu, Kevin Iori, Jared R Maguire, Kaylene Ready, Eric A Evans, Hyunseok P Kang, Imran S Haque
The past two decades have brought many important advances in our understanding of the hereditary susceptibility to cancer. Numerous studies have provided convincing evidence that identification of germline mutations associated with hereditary cancer syndromes can lead to reductions in morbidity and mortality through targeted risk management options. Additionally, advances in gene sequencing technology now permit the development of multigene hereditary cancer testing panels. Here, we describe the 2016 revision of the Counsyl Inherited Cancer Screen for detecting single-nucleotide variants (SNVs), short insertions and deletions (indels), and copy number variants (CNVs) in 36 genes associated with an elevated risk for breast, ovarian, colorectal, gastric, endometrial, pancreatic, thyroid, prostate, melanoma, and neuroendocrine cancers...
2017: PeerJ
https://www.readbyqxmd.com/read/28178173/screening-for-hereditary-angioedema-hae-at-13-emergency-centers-in-osaka-japan-a-prospective-observational-study
#17
MULTICENTER STUDY
Tomoya Hirose, Futoshi Kimbara, Masahiro Shinozaki, Yasuaki Mizushima, Hidehiko Yamamoto, Masashi Kishi, Takeyuki Kiguchi, Shigeru Shiono, Mitsuhiro Noborio, Akihiro Fuke, Hiroshi Akimoto, Takaaki Kimura, Shinichiro Kaga, Takahiko Horiuchi, Takeshi Shimazu
Hereditary angioedema (HAE) with deficiency of C1 inhibitor (C1-INH) is an autosomal-dominant disease characterized by recurrent episodes of potentially life-threatening angioedema. The objective is to study the incidence of HAE among patients who visit the emergency department.This was a 3-year prospective observational screening study involving 13 urban tertiary emergency centers in Osaka prefecture, Japan. Patients were included if they met the following criteria: unexplained edema of the body, upper airway obstruction accompanied by edema, anaphylaxis, acute abdomen with intestinal edema (including ileus and acute pancreatitis), or asthma attack...
February 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/28129231/specific-radiological-imaging-findings-in-patients-with-hereditary-pancreatitis-during-a-long-follow-up-of-disease
#18
Aura A J van Esch, Joost P H Drenth, John J Hermans
OBJECTIVES: Hereditary pancreatitis (HP) is characterized by recurrent episodes of inflammation of the pancreas. Radiological imaging is used to diagnose HP and to monitor complications. The aim of this study was to describe specific imaging findings in HP. METHODS: We retrospectively collected data of HP patients with serial imaging and reviewed all radiological imaging studies (transabdominal ultrasonography, computed tomography, and magnetic resonance imaging)...
March 2017: Pancreas
https://www.readbyqxmd.com/read/28101143/clinical-aspects-of-pancreatogenic-diabetes-secondary-to-hereditary-pancreatitis
#19
Marcio Garrison Dytz, Pedro Arthur Hamamoto Marcelino, Olga de Castro Santos, Lenita Zajdenverg, Flavia Lucia Conceição, Tânia Maria Ortiga-Carvalho, Melanie Rodacki
BACKGROUND: Hereditary pancreatitis is a rare inherited form of pancreatitis, characterized by recurrent episodes of acute pancreatitis with early onset and/or chronic pancreatitis, and presenting brittle diabetes, composed of episodes of nonketotic hyperglycemia and severe hypoglycemia. The existing literature regarding this form of diabetes is scarce. In this report, clinical features of pancreatogenic diabetes secondary to hereditary pancreatitis are presented along with recommendations for appropriate medical treatment...
2017: Diabetology & Metabolic Syndrome
https://www.readbyqxmd.com/read/28039657/self-reported-questionnaire-detects-family-history-of-cancer-in-a-pancreatic-cancer-screening-program
#20
Aimee L Lucas, Adam Tarlecki, Kellie Van Beck, Casey Lipton, Arindam RoyChoudhury, Elana Levinson, Sheila Kumar, Wendy K Chung, Harold Frucht, Jeanine M Genkinger
Pancreatic ductal adenocarcinoma (PDAC) is a leading cause of cancer death; approximately 5-10% of PDAC is hereditary. Self-administered health history questionnaires (HHQs) may provide a low-cost method to detail family history (FH) of malignancy. Pancreas Center patients were asked to enroll in a registry; 149 with PDAC completed a HHQ which included FH data. Patients with FH of PDAC, or concern for inherited PDAC syndrome, were separately evaluated in a Prevention Program and additionally met with a genetic counselor (GC) to assess PDAC risk (n = 61)...
December 30, 2016: Journal of Genetic Counseling
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