Pitfalls in the diagnosis of biallelic PMS2 mutations

Abstract Constitutional Mismatch Repair Deficiency (CMMR-D) syndrome is an inherited childhood cancer syndrome due to bi-allelic mutations in one of the four DNA mismatch repair genes involved in Lynch syndrome. The tumor spectrum of this syndrome includes hematological, brain and Lynch syndrome associated malignancies, with an increased risk of synchronous and metachronous cancers, and signs of Neurofibromatosis type-1 syndrome such as café-au-lait macules during the first three decades of life. Here, we report the first Argentinian patient with CMMR-D syndrome, focusing on her history of cancer and gastrointestinal manifestations, and the challenging molecular algorithm to finally reach her diagnosis.
Source: Familial Cancer - Category: Cancer & Oncology Source Type: research

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ConclusionAccording Result this study the average concentration of isoflurane and the health risk assessment in Valiasr and Shahid Beheshti teaching hospital operating room during 2018 because of flaw in the ventilation system was significantly higher than standard.
Source: Clinical Epidemiology and Global Health - Category: Epidemiology Source Type: research
Authors: Friedrichs K, Rudolph V Abstract Percutaneous mitral valve repair with the MitraClip in the COAPT study significantly reduced overall mortality and hospitalization in patients with at least moderate to severe mitral valve regurgitation, in comparison to guideline-compliant drug treatment alone. Consequently, the assumption that secondary mitral regurgitation is more a consequence than the cause of systolic heart failure needs to be revised; however, data from the simultaneously published MITRA-FR study showed no prognostic benefits for patients with advanced heart failure and severely enlarged left ventric...
Source: Herz - Category: Cardiology Tags: Herz Source Type: research
Authors: Md Pauzi SH, Saari HN, Roslan MR, Syed Khair Azman Jamalulil SNS, Tauan IS, Mohd Rusli FA, Aizuddin AN Abstract INTRODUCTION: Evaluation of HER2 status in breast cancer using immunohistochemistry (IHC) and in-situ-hybridisation (ISH) study is important to establish prognosis and to select patient for targeted therapy. OBJECTIVE: The study aims to determine the concordance between HER2 protein IHC score and its gene status by dual-colour dual-hapten in-situ-hybridization (DDISH) study. MATERIALS AND METHODS: Retrospective study was performed on 767 referred breast cancer cases over a period of five ...
Source: Malaysian Journal of Pathology - Category: Pathology Tags: Malays J Pathol Source Type: research
CONCLUSION: AR is expressed in about one-third of TNBC and loss of AR immunoexpression does not predict adverse clinical outcomes. Larger cohorts for better characterisation of the role of AR immunoexpression in TNBC are warranted. PMID: 31427547 [PubMed - in process]
Source: Malaysian Journal of Pathology - Category: Pathology Tags: Malays J Pathol Source Type: research
Authors: Cheah PL, Li J, Looi LM, Koh CC, Lau TP, Chang SW, Teoh KH, Mun KS, Nazarina AR Abstract Since 2014, the National Comprehensive Cancer Network (NCCN) has recommended that colorectal carcinoma (CRC) be universally tested for high microsatellite instability (MSI-H) which is present in 15% of such cancers. Fidelity of resultant microsatellites during DNA replication is contingent upon an intact mismatch repair (MMR) system and lack of fidelity can result in tumourigenesis. Prior to commencing routine screening for MSI-H, we assessed two commonly used methods, immunohistochemical (IHC) determination of loss of...
Source: Malaysian Journal of Pathology - Category: Pathology Tags: Malays J Pathol Source Type: research
Publication date: Available online 20 August 2019Source: Urology Case ReportsAuthor(s): Takahiro Yoshida, Daisuke Watanabe, Tadaaki Minowa, Akemi Yamashita, Kunihisa Miura, Akio MizushimaAbstractPenile strangulation is a disease which causes circulatory failure in the distal part of the penis by the penis strangulated by foreign substances, and it is a rare emergency disease in urology. Most of the motives are for pranks, sexual intercourses and treatments of incontinence. We herein report the clinical course of penile strangulation complicated by penile cancer. Although the treatment was completed in accordance with its c...
Source: Urology Case Reports - Category: Urology & Nephrology Source Type: research
Publication date: Available online 20 August 2019Source: Urology Case ReportsAuthor(s): Katsuki Tsuchiyama, Yoshitaka Aoki, Hideaki Ito, Makoto Yoneda, Osamu YokoyamaAbstractXeroderma pigmentosum (XP) is a rare autosomal recessive disease caused by a defect in deoxyribonucleic acid repair. Along with cutaneous symptoms, neurological symptoms are important clinical features of XP. However, information on neurogenic bladder occurrence among XP cases is rare. Herein, we describe a case of neurogenic bladder in a patient with XP type A (XPA). In this case, low bladder compliance, impaired bladder emptying, and urethral sphinct...
Source: Urology Case Reports - Category: Urology & Nephrology Source Type: research
Abstract Inherited mono-allelic mutation in one of the 4 major MMR genes results in Lynch syndrome which predisposes, in adulthood, mainly to colorectal and endometrial tumors characterized by microsatellite instability (MSI phenotype). Individuals with bi-allelic mutations of one of these genes developed early and multiple malignancies, most often in childhood. This recessively inherited condition is named CMMRD for Constitutional Mismatch Repair Deficiency. The spectrum of tumors is distinct from Lynch syndrome. Malignant brain tumors are at least as frequent as gastrointestinal tumors and in more than a third o...
Source: Bulletin du Cancer - Category: Cancer & Oncology Authors: Tags: Bull Cancer Source Type: research
Abstract Constitutional mismatch repair deficiency (CMMRD) syndrome is one of the rare diseases associated with a high risk of cancer. Causative mutations are found in DNA mismatch repair genes PMS2, MSH6, MSH2 or MLH1 that are well known in the context of Lynch syndrome. CMMRD follows an autosomal recessive inheritance trait and is characterized by childhood brain tumors and hematological malignancies as well as gastrointestinal cancer in the second and third decades of life. There is a high risk of multiple cancers, occurring synchronously and metachronously. In general, the prognosis is poor. About one third of...
Source: European Journal of Medical Genetics - Category: Genetics & Stem Cells Authors: Tags: Eur J Med Genet Source Type: research
ConclusionsCMMRD is rare, but, especially in areas where founder mutations for LS and consanguinity are common, pediatricians should be aware of it since they are the first to encounter these children. Early diagnosis will enable tailored cancer surveillance in the entire family and a discussion regarding prenatal genetic diagnosis.
Source: Pediatric Blood and Cancer - Category: Cancer & Oncology Authors: Tags: Research Article Source Type: research
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