Tumors of the Liver and Biliary Tract
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What You Should Know About Familial Adenomatous Polyposis (FAP)
What you should know about Familial Adenomatous Polyposis (FAP) FAP is a very rare condition that accounts for about 1% of new cases of colorectal cancer. People with FAP typically develop hundreds to thousands of polyps (adenomas) in their colon and rectum by age 30-40. Polyps may also develop in the stomach and small intestine. Individuals with FAP can develop non-cancerous cysts on the skin (epidermoid cysts), especially on the scalp. Besides having an increased risk for colon polyps and cysts, individuals with FAP are also more likely to develop sebaceous cysts, osetomas (benign bone tumors) of the jaw, impacted teeth, extra teeth, CHRPE (multiple areas of pigmentation in the retina in the eye) and desmoid disease. Some individuals have milder form of FAP, called attenuated FAP (AFAP), and develop an average of 20 polyps at a later age. The risk for cancer associated with FAP If left untreated, the polyps in the colon and rectum will develop in to cancer, usually before age 50. Individuals with FAP also have an increased risk for stomach cancer, papillary thyroid cancer, periampullary carcinoma, hepatoblastoma (in childhood), and brain tumors. The risks to family members FAP is caused by mutations in the Adenomatous Polyposis Coli (APC) gene. Approximately 1/3 of people with FAP do not have family history of the disease, and thus have a new mutation. FAP is inherited in a dominant fashion. Children of a person with an APC mutation have a 50% risk to inherit the mutation. Brothers, sisters, and parents of individuals with FAP should also be checked to see if they have an APC mutation. -
Cholangiocarcinoma 2020: the Next Horizon in Mechanisms and Management
CONSENSUS STATEMENT Cholangiocarcinoma 2020: the next horizon in mechanisms and management Jesus M. Banales 1,2,3 ✉ , Jose J. G. Marin 2,4, Angela Lamarca 5,6, Pedro M. Rodrigues 1, Shahid A. Khan7, Lewis R. Roberts 8, Vincenzo Cardinale9, Guido Carpino 10, Jesper B. Andersen 11, Chiara Braconi 12, Diego F. Calvisi13, Maria J. Perugorria1,2, Luca Fabris 14,15, Luke Boulter 16, Rocio I. R. Macias 2,4, Eugenio Gaudio17, Domenico Alvaro18, Sergio A. Gradilone19, Mario Strazzabosco 14,15, Marco Marzioni20, Cédric Coulouarn21, Laura Fouassier 22, Chiara Raggi23, Pietro Invernizzi 24, Joachim C. Mertens25, Anja Moncsek25, Sumera Rizvi8, Julie Heimbach26, Bas Groot Koerkamp 27, Jordi Bruix2,28, Alejandro Forner 2,28, John Bridgewater 29, Juan W. Valle 5,6 and Gregory J. Gores 8 Abstract | Cholangiocarcinoma (CCA) includes a cluster of highly heterogeneous biliary malignant tumours that can arise at any point of the biliary tree. Their incidence is increasing globally, currently accounting for ~15% of all primary liver cancers and ~3% of gastrointestinal malignancies. The silent presentation of these tumours combined with their highly aggressive nature and refractoriness to chemotherapy contribute to their alarming mortality, representing ~2% of all cancer-related deaths worldwide yearly. The current diagnosis of CCA by non-invasive approaches is not accurate enough, and histological confirmation is necessary. Furthermore, the high heterogeneity of CCAs at the genomic, epigenetic and molecular levels severely compromises the efficacy of the available therapies. In the past decade, increasing efforts have been made to understand the complexity of these tumours and to develop new diagnostic tools and therapies that might help to improve patient outcomes. -
Treatment Strategies for Hepatocellular Carcinoma—A Multidisciplinary Approach
International Journal of Molecular Sciences Review Treatment Strategies for Hepatocellular Carcinoma—A Multidisciplinary Approach Isabella Lurje 1,† , Zoltan Czigany 1,† , Jan Bednarsch 1, Christoph Roderburg 2,3, Peter Isfort 4, Ulf Peter Neumann 1,5 and Georg Lurje 1,* 1 Department of Surgery and Transplantation, University Hospital RWTH Aachen, 52074 Aachen, Germany; [email protected] (I.L.); [email protected] (Z.C.); [email protected] (J.B.); [email protected] (U.P.N.) 2 Department of Internal Medicine III, University Hospital RWTH Aachen, 52074 Aachen, Germany; [email protected] 3 Department of Gastroenterology/Hepatology, Campus Virchow Klinikum and Charité Mitte, Charité University Medicine Berlin, 13353 Berlin, Germany 4 Department for Diagnostic and Interventional Radiology, University Hospital RWTH Aachen, 52074 Aachen, Germany; [email protected] 5 Department of Surgery, Maastricht University Medical Centre (MUMC), 6229 ET Maastricht, The Netherlands * Correspondence: [email protected] † Both authors contributed equally to this work. Received: 9 March 2019; Accepted: 21 March 2019; Published: 22 March 2019 Abstract: Hepatocellular carcinoma (HCC) is the most common primary tumor of the liver and its mortality is third among all solid tumors, behind carcinomas of the lung and the colon. Despite continuous advancements in the management of this disease, the prognosis for HCC remains inferior compared to other tumor entities. While orthotopic liver transplantation (OLT) and surgical resection are the only two curative treatment options, OLT remains the best treatment strategy as it not only removes the tumor but cures the underlying liver disease. As the applicability of OLT is nowadays limited by organ shortage, major liver resections—even in patients with underlying chronic liver disease—are adopted increasingly into clinical practice. -
Combined Goblet Cellcarcinoid and Mucinous Cystadenoma of The
I Clin Pathol 1995;48:869-870 869 Combined goblet cell carcinoid and mucinous cystadenoma of the appendix J Clin Pathol: first published as 10.1136/jcp.48.9.869 on 1 September 1995. Downloaded from R K Al-Talib, C H Mason, J M Theaker Abstract Case reports Two cases of combined goblet cell car- CASE ONE cinoid and mucinous cystadenoma oc- An adherent pelvic appendix was resected with curring in the appendix are reported. The difficulty from a 54 year old woman admitted histogenesis of the goblet cell carcinoid for an interval appendicectomy, two months remains one of its most controversial as- after an attack of appendicitis. The appendix pects and the occurrence of both of these measured 60 x 15 mm and was irregular, dis- relatively uncommon tumours in the same torted and showed serosal fibrosis. On sec- organ may lend support to the unitary tioning, the tip of the appendix was distended stem cell hypothesis on the origin of this and a mucus containing diverticulum pen- tumour. Alternatively, this occurrence etrating the muscular wall of the appendix was may represent an example ofthe adenoma/ identified. carcinoma sequence. ( Clin Pathol 1995;48:869-870) Department of CASE TWO Histopathology, Keywords: Goblet cell carcinoid, mucinous cyst- A 64 year old woman was a Southampton adenoma, appendix, histogenesis. admitted with four University Hospitals month history of a dull ache in the right iliac NHS Trust, fossa which had become increasingly severe Southampton S09 4XY R K Al-Talib Goblet cell carcinoid is an uncommon tumour over the last week. -
Case Report Metastasis of Pancreatic Cancer Within Primary Colon Cancer by Overtaking the Stromal Microenvironment
Int J Clin Exp Pathol 2018;11(6):3141-3146 www.ijcep.com /ISSN:1936-2625/IJCEP0075771 Case Report Metastasis of pancreatic cancer within primary colon cancer by overtaking the stromal microenvironment Takeo Nakaya1, Hisashi Oshiro1, Takumi Saito2, Yasunaru Sakuma2, Hisanaga Horie2, Naohiro Sata2, Akira Tanaka1 Departments of 1Pathology, 2Surgery, Jichi Medical University, Shimotsuke, Tochigi, Japan Received March 10, 2018; Accepted April 15, 2018; Epub June 1, 2018; Published June 15, 2018 Abstract: We report a unique case of a 74-old man, who presented with double cancers, showing metastasis of pancreatic cancer to colon cancer. Histopathological examination after surgery revealed that the patient had as- cending colon cancer, which metastasized to the liver (pT4N0M1), as well as pancreatic cancer (pT2N1M1) that metastasized to the most invasive portion of the colon cancer, namely the serosal to subserosal layers. Although the mechanisms for this scenario have yet to be elucidated, we speculate that the metastatic pancreatic carcinoma overtook the stromal microenvironment of the colon cancer. Namely, the cancer microenvironment enriched by can- cer-associated fibroblasts, which supported the colon cancer, might be suitable for the invasion and engraftment by pancreatic carcinoma. The similarity of histological appearance might make it difficult to distinguish metastatic pancreatic carcinoma within colon cancer. Furthermore, the metastasis of pancreatic carcinoma in colon carcinoma might be more common, despite it not having been previously reported. Keywords: Cancer metastasis, metastatic pancreatic cancer, colon cancer, double cancer, tumor microenviron- ment Introduction Case report Prevention and control of cancer metastasis is Clinical history one of the most important problems in cancer care [1-4]. -
Abdominal and Pelvic Imaging Findings Associated with Sex Hormone Abnormalities
UCSF UC San Francisco Previously Published Works Title Abdominal and pelvic imaging findings associated with sex hormone abnormalities. Permalink https://escholarship.org/uc/item/7cq623wg Journal Abdominal radiology (New York), 44(3) ISSN 2366-004X Authors Kurzbard-Roach, Nicole Jha, Priyanka Poder, Liina et al. Publication Date 2019-03-01 DOI 10.1007/s00261-018-1844-1 Peer reviewed eScholarship.org Powered by the California Digital Library University of California Abdominal Radiology https://doi.org/10.1007/s00261-018-1844-1 (0123456789().,-volV)(0123456789().,-volV) REVIEW Abdominal and pelvic imaging findings associated with sex hormone abnormalities 1 1 1 2 Nicole Kurzbard-Roach • Priyanka Jha • Liina Poder • Christine Menias Ó Springer Science+Business Media, LLC, part of Springer Nature 2018 Abstract Hormones are substances that serve as chemical communication between cells. They are unique biological molecules that affect multiple organ systems and play a key role in maintaining homoeostasis. In this role, they are usually produced from a single organ and have defined target organs. However, hormones can affect non-target organs as well. As such, biochemical and hormonal abnormalities can be associated with anatomic changes in multiple target as well as non-target organs. Hormone-related changes may take the form of an organ parenchymal abnormality, benign neoplasm, or even malignancy. Given the multifocal action of hormones, the observed imaging findings may be remote from the site of production, and may actually be multi-organ in nature. Anatomic findings related to hormone level abnormalities and/or laboratory biomarker changes may be identified with imaging. The purpose of this image-rich review is to sensitize radiologists to imaging findings in the abdomen and pelvis that may occur in the context of hormone abnormalities, focusing primarily on sex hormones and their influence on these organs. -
Germline Fumarate Hydratase Mutations in Patients with Ovarian Mucinous Cystadenoma
European Journal of Human Genetics (2006) 14, 880–883 & 2006 Nature Publishing Group All rights reserved 1018-4813/06 $30.00 www.nature.com/ejhg SHORT REPORT Germline fumarate hydratase mutations in patients with ovarian mucinous cystadenoma Sanna K Ylisaukko-oja1, Cezary Cybulski2, Rainer Lehtonen1, Maija Kiuru1, Joanna Matyjasik2, Anna Szyman˜ska2, Jolanta Szyman˜ska-Pasternak2, Lars Dyrskjot3, Ralf Butzow4, Torben F Orntoft3, Virpi Launonen1, Jan Lubin˜ski2 and Lauri A Aaltonen*,1 1Department of Medical Genetics, Biomedicum Helsinki, University of Helsinki, Helsinki, Finland; 2International Hereditary Cancer Center, Department of Genetics and Pathology, Pomeranian Medical University, Szczecin, Poland; 3Department of Clinical Biochemistry, Aarhus University Hospital, Skejby, Denmark; 4Pathology and Obstetrics and Gynecology, University of Helsinki, Helsinki, Finland Germline mutations in the fumarate hydratase (FH) gene were recently shown to predispose to the dominantly inherited syndrome, hereditary leiomyomatosis and renal cell cancer (HLRCC). HLRCC is characterized by benign leiomyomas of the skin and the uterus, renal cell carcinoma, and uterine leiomyosarcoma. The aim of this study was to identify new families with FH mutations, and to further examine the tumor spectrum associated with FH mutations. FH germline mutations were screened from 89 patients with RCC, skin leiomyomas or ovarian tumors. Subsequently, 13 ovarian and 48 bladder carcinomas were analyzed for somatic FH mutations. Two patients diagnosed with ovarian mucinous cystadenoma (two out of 33, 6%) were found to be FH germline mutation carriers. One of the changes was a novel mutation (Ala231Thr) and the other one (435insAAA) was previously described in FH deficiency families. These results suggest that benign ovarian tumors may be associated with HLRCC. -
Pancreatic Incidentalomas: Review and Current Management Recommendations
Published online: 03.10.2019 THIEME 6 PancreaticReview Article Incidentalomas Surekha, Varshney Pancreatic Incidentalomas: Review and Current Management Recommendations Binit Sureka1 Vaibhav Varshney2 1Department of Diagnostic and Interventional Radiology, All India Address for correspondences Binit Sureka, MD, DNB, MBA, Institute of Medical Sciences, Jodhpur, Rajasthan, India Department of Diagnostic and Interventional Radiology, All 2Department of Surgical Gastroenterology, All India Institute of India Institute of Medical Sciences, Basni Industrial Area, Medical Sciences, Jodhpur, Rajasthan, India MIA 2nd Phase, Basni, Jodhpur 342005, Rajasthan, India (e-mail: [email protected]). Ann Natl Acad Med Sci (India) 2019;55:6–13 Abstract There has been significant increase in the detection of incidental pancreatic lesions due to widespread use of cross-sectional imaging like computed tomography and magnet- ic resonance imaging supplemented with improvements in imaging resolution. Hence, Keywords accurate diagnosis (benign, borderline, or malignant lesion) and adequate follow-up ► duct is advised for these incidentally detected pancreatic lesions. In this article, we would ► incidentaloma review the various pancreatic parenchymal (cystic or solid) and ductal lesions (congen- ► pancreas ital or pathological), discuss the algorithmic approach in management of incidental ► pancreatic cyst pancreatic lesions, and highlight the key imaging features for accurate diagnosis. Introduction MPD. The second aim is to further classify the lesion -
Pecoma—A Rare Liver Tumor
Journal of Clinical Medicine Article PEComa—A Rare Liver Tumor Marek Krawczyk 1, Bogna Ziarkiewicz-Wróblewska 2, Tadeusz Wróblewski 1, Joanna Podgórska 3, Jakub Grzybowski 2, Beata Gierej 2, Piotr Krawczyk 1, Paweł Nyckowski 4, Oskar Kornasiewicz 1, Waldemar Patkowski 1, Piotr Remiszewski 1, Krzysztof Zaj ˛ac 1 and Michał Gr ˛at 1,* 1 Department of General, Transplant and Liver Surgery, Medical University Warsaw, 02-097 Warsaw, Poland; [email protected] (M.K.); [email protected] (T.W.); [email protected] (P.K.); [email protected] (O.K.); [email protected] (W.P.); [email protected] (P.R.); [email protected] (K.Z.) 2 Department of Pathology, Medical University of Warsaw, 02-097 Warsaw, Poland; [email protected] (B.Z.-W.); [email protected] (J.G.); [email protected] (B.G.) 3 2nd Department of Clinical Radiology, Medical University of Warsaw, 02-097 Warsaw, Poland; [email protected] 4 Department of General, Gastroenterological and Oncological Surgery, Medical University Warsaw, 02-097 Warsaw, Poland; [email protected] * Correspondence: [email protected]; Tel.: +48-22-599-2545 Abstract: PEComa (perivascular epithelioid cell tumor) is a rare liver tumor. Decisions regarding patient management are currently based on a few small case series. The aim of this study was to report the clinicopathological features of PEComa in order to provide guidance for management, complemented by our own experience. This retrospective observational study included all patients with PEComa who underwent surgical treatment in two departments between 2002 and 2020. -
Progress Report Cholestasis and Lesions of the Biliary Tract in Chronic Pancreatitis
Gut: first published as 10.1136/gut.19.9.851 on 1 September 1978. Downloaded from Gut, 1978, 19, 851-857 Progress report Cholestasis and lesions of the biliary tract in chronic pancreatitis The occurrence of jaundice in the course of chronic pancreatitis has been recognised since the 19th century" 2. But in the early papers it is uncertain whether the cases were due to acute, acute relapsing, or to chronic pan- creatitis, or even to pancreatic cancer associated with pancreatitis or benign ampullary stenosis. With the introduction of endoscopic retrograde cholangiopancreato- graphy (ERCP), there has been a renewed interest in the biliary complica- tions of chronic pancreatitis (CP). However, papers published recently by endoscopists have generally neglected the cholangiographic aspect of the lesions and are less precise and less well documented than papers published just after the second world war, following the introduction of manometric cholangiography3-5. Furthermore, the description of obstructive jaundice due to chronic pancreatitis, classical 20 years ago, seems to have been forgotten until the recent papers. Radiological aspects of bile ducts in chronic pancreatitis http://gut.bmj.com/ If one limits the subject to primary diseases of the pancreas, particularly chronic calcifying pancreatitis (CCP)6, excluding chronic pancreatitis secondary to benign ampullary stenosis7, cancer obstructing the main pancreatic duct8 9 and acute relapsing pancreatitis secondary to gallstones'0 radiological aspect of the main bile duct" is type I the most.common on September 25, 2021 by guest. Protected copyright. choledocus (Figure). This description has been repeatedly confirmed'2"13. It is a long stenosis of the intra- or retropancreatic part of the main bile duct. -
Guideline for the Evaluation of Cholestatic Jaundice
CLINICAL GUIDELINES Guideline for the Evaluation of Cholestatic Jaundice in Infants: Joint Recommendations of the North American Society for Pediatric Gastroenterology, Hepatology, and Nutrition and the European Society for Pediatric Gastroenterology, Hepatology, and Nutrition ÃRima Fawaz, yUlrich Baumann, zUdeme Ekong, §Bjo¨rn Fischler, jjNedim Hadzic, ôCara L. Mack, #Vale´rie A. McLin, ÃÃJean P. Molleston, yyEzequiel Neimark, zzVicky L. Ng, and §§Saul J. Karpen ABSTRACT Cholestatic jaundice in infancy affects approximately 1 in every 2500 term PREAMBLE infants and is infrequently recognized by primary providers in the setting of holestatic jaundice in infancy is an uncommon but poten- physiologic jaundice. Cholestatic jaundice is always pathologic and indicates tially serious problem that indicates hepatobiliary dysfunc- hepatobiliary dysfunction. Early detection by the primary care physician and tion.C Early detection of cholestatic jaundice by the primary care timely referrals to the pediatric gastroenterologist/hepatologist are important physician and timely, accurate diagnosis by the pediatric gastro- contributors to optimal treatment and prognosis. The most common causes of enterologist are important for successful treatment and an optimal cholestatic jaundice in the first months of life are biliary atresia (25%–40%) prognosis. The Cholestasis Guideline Committee consisted of 11 followed by an expanding list of monogenic disorders (25%), along with many members of 2 professional societies: the North American Society unknown or multifactorial (eg, parenteral nutrition-related) causes, each of for Gastroenterology, Hepatology and Nutrition, and the European which may have time-sensitive and distinct treatment plans. Thus, these Society for Gastroenterology, Hepatology and Nutrition. This guidelines can have an essential role for the evaluation of neonatal cholestasis committee has responded to a need in pediatrics and developed to optimize care. -
Liver & Pancreas
276A ANNUAL MEETING ABSTRACTS 1263 Renal Pathology in Hematopoeitic Cell Transplantation Design: We studied 58 consecutive liver allografts from 53 pediatric patients (<18 Recipients yrs) who underwent OLT from 1995-2006. All allograft biopsies were scored for the ML Troxell, M Pilapil, D Miklos, JP Higgins, N Kambham. OHSU, Portland, OR; following features: 1) CLH (mild, moderate, severe), 2) portal AR (mild, moderate, Stanford Univ, Stanford, CA. severe), 3) zone 3 fibrosis (mild=perivenular or severe=bridging), and 4) ductopenia. Background: Hematopoietic cell transplantation (HCT) associated acute and chronic Five explanted livers that were removed during the course of retransplantation for graft renal toxicity can be due to cytotoxic conditioning agents, radiation, infection, failure in this group were also reviewed. immunosuppressive agents, ischemia, and graft versus host disease (GVHD). We have Results: Mean age at OLT was 7 yrs (range 7 wks-18 yrs) with 29 boys and 24 girls. reviewed consecutive renal biopsy specimens in HCT patients from a single center. We reviewed a total of 417 allograft biopsies (mean 7.2 per allograft) obtained 2 days Design: The files of Stanford University Medical Center Department of Pathology were - 11 yrs post-OLT; 200 (48%) of these were protocol biopsies. Forty-six allografts (79%) searched for renal biopsy specimens in patients who received HCT (1995-2005); 11 had >1 yr of histologic follow-up, 29 (50%) had >3 yrs, and 21 (36%) >5 yrs. Overall, cases were identified (post BMT time 0.7 to 14.5 years). The biopsies were processed CLH was observed on at least one occasion in 38 (66%) allografts.