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Hereditary pancreatitis

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https://www.readbyqxmd.com/read/29769629/risk-of-multiple-pancreatic-cancers-in-cdkn2a-p16-leiden-mutation-carriers
#1
Isaura Ibrahim, Babs G Sibinga Mulder, Bert Bonsing, Hans Morreau, Arantza Farina Sarasqueta, Akin Inderson, Saskia Luelmo, Shirin Feshtali, Thomas P Potjer, Wouter de Vos Tot Nederveen Cappel, Martin Wasser, Hans F A Vasen
CDKN2A-p16-Leiden mutation carriers have a substantial risk of developing pancreatic ductal adenocarcinoma (PDAC). One of the main clinical features of hereditary cancer is the development of multiple cancers. Since 2000, we have run a surveillance program for CDKN2A-p16-Leiden mutation carriers. The patients are offered a yearly MRI with optionally endoscopic ultrasound. In patients with a confirmed lesion, usually, a partial resection of the pancreas is recommended. A total of 18 PDAC (8.3%) were detected in 218 mutation carriers...
May 16, 2018: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/29720405/-smad4-dpc4
#2
REVIEW
Aoife J McCarthy, Runjan Chetty
Smad4 or DPC4 belongs to a family of signal transduction proteins that are phosphorylated and activated by transmembrane serine-threonine receptor kinases in response to transforming growth factor beta (TGF-β) signaling via several pathways. The gene acts as a tumour suppressor gene and inactivation of smad4/DPC4 is best recognised in pancreatic cancer. However, smad4/DPC4 is also mutated in other conditions and cancers such as juvenile polyposis syndrome with and without hereditary haemorrhagic telangiectasia, colorectal and prostate cancers...
May 2, 2018: Journal of Clinical Pathology
https://www.readbyqxmd.com/read/29671537/chronic-pancreatitis-diagnosis-and-treatment
#3
Kathleen Barry
Chronic pancreatitis is an irreversible and progressive disorder of the pancreas characterized by inflammation, fibrosis, and scarring. Exocrine and endocrine functions are lost, often leading to chronic pain. The etiology is multifactorial, although alcoholism is the most significant risk factor in adults. The average age at diagnosis is 35 to 55 years. If chronic pancreatitis is suspected, contrast-enhanced computed tomography is the best imaging modality for diagnosis. Computed tomography may be inconclusive in early stages of the disease, so other modalities such as magnetic resonance imaging, magnetic resonance cholangiopancreatography, or endoscopic ultrasonography with or without biopsy may be used...
March 15, 2018: American Family Physician
https://www.readbyqxmd.com/read/29667044/germline-variants-in-pancreatic-cancer-patients-with-a-personal-or-family-history-of-cancer-fulfilling-the-revised-bethesda-guidelines
#4
Akihiro Ohmoto, Chigusa Morizane, Emi Kubo, Erina Takai, Hiroko Hosoi, Yasunari Sakamoto, Shunsuke Kondo, Hideki Ueno, Kazuaki Shimada, Shinichi Yachida, Takuji Okusaka
BACKGROUND: Pancreatic cancer (PC) is categorized as a neoplasm associated with Lynch syndrome; however, the precise proportion of PC patients harboring DNA mismatch repair genes (MMR genes) remains unclear, especially in the Asian population. METHODS: Among 304 Japanese patients with pathologically proven pancreatic ductal adenocarcinoma, we selected 20 (6.6%) patients with a personal or family history involving first- or second-degree relatives fulfilling the revised Bethesda guidelines (RBG), defined as RBG-compatible cases...
April 17, 2018: Journal of Gastroenterology
https://www.readbyqxmd.com/read/29666173/hereditary-pancreatitis-in-paediatrics-the-causative-role-of-p-leu104pro-mutation-of-cationic-trypsinogen-gene-also-in-young-subjects
#5
Ausilia Enea, Antonio Pizzol, Michele Pinon, Fabio Cisarò, Francesco Tandoi, Carlo Arduino, Pier Luigi Calvo
No abstract text is available yet for this article.
April 17, 2018: Gut
https://www.readbyqxmd.com/read/29620054/haemochromatosis
#6
REVIEW
Pierre Brissot, Antonello Pietrangelo, Paul C Adams, Barbara de Graaff, Christine E McLaren, Olivier Loréal
Haemochromatosis is defined as systemic iron overload of genetic origin, caused by a reduction in the concentration of the iron regulatory hormone hepcidin, or a reduction in hepcidin-ferroportin binding. Hepcidin regulates the activity of ferroportin, which is the only identified cellular iron exporter. The most common form of haemochromatosis is due to homozygous mutations (specifically, the C282Y mutation) in HFE, which encodes hereditary haemochromatosis protein. Non-HFE forms of haemochromatosis due to mutations in HAMP, HJV or TFR2 are much rarer...
April 5, 2018: Nature Reviews. Disease Primers
https://www.readbyqxmd.com/read/29601266/tumors-in-von-hippel-lindau-syndrome-from-head-to-toe-comprehensive-state-of-the-art-review
#7
Dhakshinamoorthy Ganeshan, Christine O Menias, Perry J Pickhardt, Kumaresan Sandrasegaran, Meghan G Lubner, Preetha Ramalingam, Sanjeev Bhalla
Von Hippel-Lindau syndrome (VHL) is an autosomal-dominant hereditary tumor disease that arises owing to germline mutations in the VHL gene, located on the short arm of chromosome 3. Patients with VHL may develop multiple benign and malignant tumors involving various organ systems, including retinal hemangioblastomas (HBs), central nervous system (CNS) HBs, endolymphatic sac tumors, pancreatic neuroendocrine tumors, pancreatic cystadenomas, pancreatic cysts, clear cell renal cell carcinomas, renal cysts, pheochromocytomas, paragangliomas, and epididymal and broad ligament cystadenomas...
March 30, 2018: Radiographics: a Review Publication of the Radiological Society of North America, Inc
https://www.readbyqxmd.com/read/29595810/genotype-and-phenotype-correlation-in-von-hippel-lindau-disease-based-on-alteration-of-the-hif-%C3%AE-binding-site-in-vhl-protein
#8
Sheng-Jie Liu, Jiang-Yi Wang, Shuang-He Peng, Teng Li, Xiang-Hui Ning, Bao-An Hong, Jia-Yuan Liu, Peng-Jie Wu, Bo-Wen Zhou, Jing-Cheng Zhou, Nie-Nie Qi, Xiang Peng, Jiu-Feng Zhang, Kai-Fang Ma, Lin Cai, Kan Gong
PurposeVon Hippel-Lindau (VHL) disease is a rare hereditary cancer syndrome that reduces life expectancy. We aimed to construct a more valuable genotype-phenotype correlation based on alterations in VHL protein (pVHL).MethodsVHL patients (n = 339) were recruited and grouped based on mutation types: HIF-α binding site missense (HM) mutations, non-HIF-α binding site missense (nHM) mutations, and truncating (TR) mutations. Age-related risks of VHL-associated tumors and patient survival were compared.ResultsMissense mutations conferred an increased risk of pheochromocytoma (HR = 1...
March 29, 2018: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/29590444/extremely-delayed-diagnosis-of-type-ii-hereditary-angioedema-case-report-and-review-of-the-literature
#9
Jeremy Berger, Michael P Carroll, Edward Champoux, Christopher A Coop
We present a case with extremely late diagnosis of type II hereditary angioedema (HAE). Given recent advances in HAE treatment, we want to bring physician awareness to this condition and aid in earlier detection. HAE is a disorder associated with episodes of angioedema of the face, larynx, lips, abdomen, or extremities. Late diagnosis of HAE can lead to significant morbidity and is severely impairing due to recurring attacks. The diagnosis of HAE is ordinarily made during childhood and adolescence. Delayed diagnoses in early and middle adulthood have been documented in the literature...
March 26, 2018: Military Medicine
https://www.readbyqxmd.com/read/29587290/chemoprevention-and-treatment-of-pancreatic-cancer-update-and-review-of-the-literature
#10
Julia Benzel, Volker Fendrich
BACKGROUND: Pancreatic ductal adenocarcinoma is one of the most lethal types of cancer with a 5-year survival rate of around 7%. Due to the relatively poor prognosis, the potential need of an effective chemoprevention is highly needed. SUMMARY: Different risk factors like smoking or hereditary tumour syndromes should be known for early detection of pancreatic intraepithelial neoplasia. Chemopreventive dietary agents include curcumin, capsaicin and flavonoid, whereas potential chemopreventive drugs compromise aspirin, metformin or statins...
March 27, 2018: Digestion
https://www.readbyqxmd.com/read/29552330/pancreatic-adenocarcinoma-chronic-pancreatitis-and-mody-8-diabetes-is-bile-salt-dependent-lipase-or-carboxyl-ester-lipase-at-the-crossroads-of-pancreatic-pathologies
#11
REVIEW
Dominique Lombardo, Françoise Silvy, Isabelle Crenon, Emmanuelle Martinez, Aurélie Collignon, Evelyne Beraud, Eric Mas
Pancreatic adenocarcinomas and diabetes mellitus are responsible for the deaths of around two million people each year worldwide. Patients with chronic pancreatitis do not die directly of this disease, except where the pathology is hereditary. Much current literature supports the involvement of bile salt-dependent lipase (BSDL), also known as carboxyl ester lipase (CEL), in the pathophysiology of these pancreatic diseases. The purpose of this review is to shed light on connections between chronic pancreatitis, diabetes, and pancreatic adenocarcinomas by gaining an insight into BSDL and its variants...
February 23, 2018: Oncotarget
https://www.readbyqxmd.com/read/29541281/cdkn2a-founder-mutation-in-pancreatic-ductal-adenocarcinoma-patients-without-cutaneous-features-of-familial-atypical-multiple-mole-melanoma-fammm-syndrome
#12
Carol Cremin, Sarah Howard, Lyly Le, Aly Karsan, David F Schaeffer, Daniel Renouf, Kasmintan A Schrader
Background: Approximately 5% to 10% of pancreatic ductal adenocarcinoma (PDAC) has a hereditary basis. In most of these defined hereditary cancer syndromes, PDAC is not the predominant cancer type. Traditional criteria for publicly funded genetic testing typically require the presence of a set combination of the predominant syndrome-associated cancer types in the family history.We report the identification of a CDKN2A pathogenic variant in a PDAC-prone family without the cutaneous features of multiple moles or melanoma that are characteristic of the Familial Atypical Multiple Mole Melanoma (FAMMM) Syndrome identified in a universal testing algorithm for inherited mutations in pancreatic cancer patients...
2018: Hereditary Cancer in Clinical Practice
https://www.readbyqxmd.com/read/29517634/age-and-disease-duration-impact-outcomes-of-total-pancreatectomy-and-islet-autotransplant-for-prss1-hereditary-pancreatitis
#13
Melena D Bellin, Polina Prokhoda, James S Hodges, Sarah J Schwarzenberg, Martin L Freeman, Ty B Dunn, Joshua J Wilhelm, Timothy L Pruett, Varvara A Kirchner, Gregory J Beilman, Srinath Chinnakotla
OBJECTIVES: We investigated the impact of patient age and disease duration on islet isolation results, diabetes outcomes, and pain outcomes after total pancreatectomy with islet autotransplant (TPIAT) performed in 64 patients with hereditary pancreatitis due to PRSS1 gene mutation. METHODS: We evaluated the association of patient age and disease duration on islet isolation results and opioid use at 1 year using logistic regression and on graft function using 1-way analysis of variance...
April 2018: Pancreas
https://www.readbyqxmd.com/read/29506128/prospective-evaluation-of-germline-alterations-in-patients-with-exocrine-pancreatic-neoplasms
#14
Maeve A Lowery, Winston Wong, Emmet J Jordan, Jonathan W Lee, Yelena Kemel, Joseph Vijai, Diana Mandelker, Ahmet Zehir, Marinela Capanu, Erin Salo-Mullen, Angela G Arnold, Kenneth H Yu, Anna M Varghese, David P Kelsen, Robin Brenner, Erica Kaufmann, Vignesh Ravichandran, Semanti Mukherjee, Michael F Berger, David M Hyman, David S Klimstra, Ghassan K Abou-Alfa, Catherine Tjan, Christina Covington, Hannah Maynard, Peter J Allen, Gokce Askan, Steven D Leach, Christine A Iacobuzio-Donahue, Mark E Robson, Kenneth Offit, Zsofia K Stadler, Eileen M O'Reilly
Background: Identification of pathogenic germline alterations (PGAs) has important clinical and therapeutic implications in pancreas cancer. We performed comprehensive germline testing (GT) in an unselected prospective cohort of patients with exocrine pancreatic neoplasms with genotype and phenotype association to facilitate identification of prognostic and/or predictive biomarkers and examine potential therapeutic implications. Methods: Six hundred fifteen unselected patients with exocrine pancreatic neoplasms were prospectively consented for somatic tumor and matched sample profiling for 410-468 genes...
February 28, 2018: Journal of the National Cancer Institute
https://www.readbyqxmd.com/read/29501019/two-stage-resection-of-a-bilateral-pheochromocytoma-and-pancreatic-neuroendocrine-tumor-in-a-patient-with-von-hippel-lindau-disease-a-case-report
#15
Yutaka Endo, Minoru Kitago, Akira Miyajima, Isao Kurihara, Kaori Kameyama, Masahiro Shinoda, Hiroshi Yagi, Yuta Abe, Taizo Hibi, Chisato Takagi, Yutaka Nakano, Wataru Koizumi, Osamu Itano, Yuko Kitagawa
INTRODUCTION: von Hippel-Lindau disease (vHL disease) is a hereditary disease in which tumors and cysts develop in many organs, in association with central nervous system hemangioblastomas, pheochromocytomas, and pancreatic tumors. We herein report a case of vHL disease (type 2A) associated with bilateral pheochromocytomas, pancreatic neuroendocrine tumors (PNET), and cerebellar hemangioblastomas treated via pancreatectomy after adrenalectomy. CASE PRESENTATION: A 51-year-old woman presented with a cerebellar tumor, bilateral hypernephroma, and pancreatic tumor detected during a medical checkup...
2018: International Journal of Surgery Case Reports
https://www.readbyqxmd.com/read/29492255/an-intrapancreatic-accessory-spleen-presenting-as-a-rapidly-growing-pancreatic-mass-after-splenectomy-in-a-patient-with-hereditary-spherocytosis-a-case-report-and-literature-review
#16
Yukihiro Tatekawa
The case of a 16-year-old boy with an intrapancreatic accessory spleen presenting as a rapidly growing pancreatic mass after splenectomy for splenomegaly due to hereditary spherocytosis is reported herein. When he was 15 years old, the patient visited at a hospital due to jaundice and radiological examinations showed a huge spleen with a 2-cm mass near or in the pancreatic tail. Sonazoid-enhanced ultrasonography showed hypervascularity in the mass located near the pancreatic tail, which was suspicious for an accessory spleen...
February 2018: Journal of Surgical Case Reports
https://www.readbyqxmd.com/read/29476405/prss1-r122h-mutation-in-an-indian-family-with-low-penetrance-is-associated-with-pancreatitis-phenotype
#17
Urmila Steffie Avanthi, Govardhan Bale, Mohsin Aslam, Rupjyoti Talukdar, Nageshwar Reddy Duvvur, Ravikanth Venkata Vishnubhotla
Mutations in PRSS1 gene namely R122H and N29I cause hereditary pancreatitis. They are autosomal dominant with a high penetrance (80%) reported in North American, North-east Asian, and North European ethnicities. However, the mutations are reportedly absent in Indian, African, and South American ethnicities. We report here for the first time a family from India that is positive for R122H mutation in the PRSS1 gene. The proband is symptomatic with chronic pancreatitis, however, the father although heterozygous for R122H is asymptomatic...
January 2018: Indian Journal of Gastroenterology: Official Journal of the Indian Society of Gastroenterology
https://www.readbyqxmd.com/read/29467239/frequency-and-consequence-of-the-recurrent-yy1-p-t372r-mutation-in-sporadic-insulinomas
#18
LETTER
Vaishali I Parekh, Sita D Modali, James Welch, William F Simonds, Lee S Weinstein, Electron Kebebew, Sunita K Agarwal
No abstract text is available yet for this article.
May 2018: Endocrine-related Cancer
https://www.readbyqxmd.com/read/29449689/current-and-emerging-therapies-for-pnets-in-patients-with-or-without-men1
#19
REVIEW
Morten Frost, Kate E Lines, Rajesh V Thakker
Pancreatic neuroendocrine tumours (PNETs) might occur as a non-familial isolated endocrinopathy or as part of a complex hereditary syndrome, such as multiple endocrine neoplasia type 1 (MEN1). MEN1 is an autosomal dominant disorder characterized by the combined occurrence of PNETs with tumours of the parathyroids and anterior pituitary. Treatments for primary PNETs include surgery. Treatments for non-resectable PNETs and metastases include biotherapy (for example, somatostatin analogues, inhibitors of receptors and monoclonal antibodies), chemotherapy and radiological therapy...
April 2018: Nature Reviews. Endocrinology
https://www.readbyqxmd.com/read/29439461/early-diagnosis-to-improve-the-poor-prognosis-of-pancreatic-cancer
#20
REVIEW
Masataka Kikuyama, Terumi Kamisawa, Sawako Kuruma, Kazuro Chiba, Shinya Kawaguchi, Shuzo Terada, Tatsunori Satoh
Pancreatic cancer (PC) has a poor prognosis due to delayed diagnosis. Early diagnosis is the most important factor for improving prognosis. For early diagnosis of PC, patients with clinical manifestations suggestive of PC and high risk for developing PC need to be selected for examinations for PC. Signs suggestive of PC (e.g., symptoms, diabetes mellitus, acute pancreatitis, or abnormal results of blood examinations) should not be missed, and the details of risks for PC (e.g., familial history of PC, intraductal mucin producing neoplasm, chronic pancreatitis, hereditary pancreatitis, or life habit) should be understood...
February 11, 2018: Cancers
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