scholarly journals Lynch syndrome type II associated endometrial carcinoma: a case report and literature analysis

2021 ◽  
Author(s):  
hui juan Lu
Keyword(s):  
Colorectal Cancer ◽  
Endometrial Cancer ◽  
Case Report ◽  
Lynch Syndrome ◽  
Autosomal Dominant ◽  
Gene Mutations ◽  
Hereditary Disease ◽  
Syndrome Type ◽  
Type Ii ◽  
Literature Analysis

Lynch syndrome (LS) is an autosomal dominant hereditary disease, which is caused by mismatch repair (MMR) gene mutations in the germline of MLH1, MSH2, MSH6 and PMS2. LS patients can develop colorectal cancer, endometrial cancer (EC), etc, at the same or different time, so their prognosis are poor.

PROGRESSIVE FAMILY INTRAHEPATIC CHOLESTASIS: DIAGNOSTICS, TREATMENT (CLINICAL OBSERVATION)

2021 ◽  
Vol 19 (4) ◽  
pp. 462-467
Author(s):  
A. R. Obuhovich ◽  
◽  
N. N. Iaskevich ◽  
Keyword(s):  
Case Report ◽  
Intrahepatic Cholestasis ◽  
Clinical Observation ◽  
Gene Mutations ◽  
Literature Analysis ◽  
Genetic Progress ◽  
Benign Recurrent Intrahepatic Cholestasis

Jaundice is a manifestation of many diseases both benign and malignant. Genetic progress allowed to distinguish the group of unknown earlier rare cholestatic jaundices, which are resulted from gene mutations. There are no described algorithms of their diagnosis or treatment. In this article case report of the patient with benign recurrent intrahepatic cholestasis type 1 is presented. There is also literature analysis of this theme.

Filamin-Associated Dysplasias/Dysostoses and Related Disorders

2018 ◽  
pp. 307-350
Author(s):  
Jürgen W. Spranger ◽  
Paula W. Brill ◽  
Christine Hall ◽  
Gen Nishimura ◽  
Andrea Superti-Furga ◽  
...  
Keyword(s):  
Autosomal Dominant ◽  
Clinical Findings ◽  
Differential Diagnoses ◽  
Type I ◽  
Syndrome Type ◽  
Type Ii ◽  
Radiographic Features ◽  
Larsen Syndrome ◽  
Otopalatodigital Syndrome

This chapter discusses filamin-associated dysplasias/dysostoses and related disorders and includes discussion on otopalatodigital syndrome type 1, otopalatodigital syndrome type II, Melnick-Needles osteodysplasty, frontometaphyseal dysplasia, boomerang dysplasia/atelosteogenesis type I, atelosteogenesis type III, Larsen syndrome (autosomal dominant), spondylocarpotarsal synostosis syndrome, and Frank-ter Haar syndrome. Each discussion includes major radiographic features, major clinical findings, genetics, major differential diagnoses, and a bibliography.

scholarly journals Case report: a rare case of Hunter syndrome (type II mucopolysaccharidosis) in a girl

2019 ◽  
Vol 20 (1) ◽  
Author(s):  
A. N. Semyachkina ◽  
E. Y. Voskoboeva ◽  
E. Y. Zakharova ◽  
E. A. Nikolaeva ◽  
I. V. Kanivets ◽  
...  
Keyword(s):  
Case Report ◽  
Rare Case ◽  
Hunter Syndrome ◽  
Syndrome Type ◽  
Type Ii

scholarly journals Recent advances in understanding Lynch syndrome

F1000Research ◽  
2016 ◽  
Vol 5 ◽  
pp. 2889 ◽  
Author(s):  
Sherief Shawki ◽  
Matthew F. Kalady
Keyword(s):  
Colorectal Cancer ◽  
Lynch Syndrome ◽  
Correct Diagnosis ◽  
Diagnostic Testing ◽  
Gene Mutations ◽  
The United States ◽  
Cancer Syndrome ◽  
Dna Mismatch ◽  
Recent Developments ◽  
Risk Patients

Colorectal cancer affects about 4.4% of the population and is a leading cause of cancer-related death in the United States. Approximately 10% to 20% of cases occur within a familial pattern, and Lynch syndrome is the most common hereditary colorectal cancer syndrome. Lynch syndrome is a hereditary predisposition to forming colorectal and extracolonic cancers, caused by a germline mutation in one of the DNA mismatch repair genes. Identifying at-risk patients and making a correct diagnosis are the keys to successful screening and interventions which will decrease formation of and death from cancers. Knowledge of the genetics and the natural history of Lynch syndrome has continued to be uncovered in recent years, leading to a better grasp on how these patients and their families should be managed. Recent developments include the approach to diagnostic testing, more precise definitions of the syndrome and risk stratification based on gene mutations, surgical decision-making, and chemoprevention.

scholarly journals Comment on: Screening for Lynch Syndrome (Hereditary Nonpolyposis Colorectal Cancer) among Endometrial Cancer Patients

2007 ◽  
Vol 67 (19) ◽  
pp. 9603-9603 ◽  
Author(s):  
Heather Hampel ◽  
Jenny Panescu ◽  
Janet Lockman ◽  
Kaisa Sotamaa ◽  
Daniel Fix ◽  
...  
Keyword(s):  
Colorectal Cancer ◽  
Endometrial Cancer ◽  
Lynch Syndrome ◽  
Cancer Patients ◽  
Hereditary Nonpolyposis Colorectal Cancer ◽  
Hereditary Nonpolyposis

scholarly journals Screening for Lynch Syndrome (Hereditary Nonpolyposis Colorectal Cancer) among Endometrial Cancer Patients

2006 ◽  
Vol 66 (15) ◽  
pp. 7810-7817 ◽  
Author(s):  
Heather Hampel ◽  
Wendy Frankel ◽  
Jenny Panescu ◽  
Janet Lockman ◽  
Kaisa Sotamaa ◽  
...  
Keyword(s):  
Colorectal Cancer ◽  
Endometrial Cancer ◽  
Lynch Syndrome ◽  
Cancer Patients ◽  
Hereditary Nonpolyposis Colorectal Cancer ◽  
Hereditary Nonpolyposis

scholarly journals Lynch Syndrome Presenting as Endometrial Cancer

2014 ◽  
Vol 60 (1) ◽  
pp. 111-121 ◽  
Author(s):  
Laura J Tafe ◽  
Eleanor R Riggs ◽  
Gregory J Tsongalis
Keyword(s):  
Endometrial Cancer ◽  
Lynch Syndrome ◽  
Screening Program ◽  
Gene Mutations ◽  
Mismatch Repair Gene ◽  
Repair Gene ◽  
Hereditary Colon Cancer ◽  
High Prevalence ◽  
Cost Efficient ◽  
Tumor Types

Abstract BACKGROUND Lynch syndrome (LS) is the most common form of the hereditary colon cancer syndromes. Because of its high prevalence, a nationwide campaign has begun to screen all colorectal cancers for the genetic abnormalities associated with LS. CONTENT Next to colorectal cancer, endometrial cancer is the most common form of malignancy found in women with LS. Identifying individuals who harbor the well-characterized mismatch-repair gene mutations via immunohistochemistry, microsatellite instability analysis, or direct gene sequencing is critical to managing the LS patient and to surveillance for the development of other associated tumor types. SUMMARY Although many institutions have begun screening all colorectal tumors for LS, the evidence is sufficient to warrant the testing of all endometrial cancers for LS as well. Various testing algorithms, along with genetic-counseling efforts, can lead to a cost-efficient and beneficial screening program.

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