Constitutional mismatch repair deficiency syndrome with atypical features caused by a homozygous MLH1 missense variant (c.1918C>A, p.(Pro640Thr)): a case report

Constitutional mismatch repair deficiency (CMMRD) syndrome is a rare autosomal recessive genetic disorder caused by biallelic germline mutations in one of the mismatch repair genes. Carriers are at exceptionally high risk for developing, typically in early life, hematological and brain malignancies, as well as cancers observed in Lynch syndrome. We report a homozygous MLH1 missense variant (c.1918C>A p.(Pro640Thr)) in a Tunisian patient with CMMRD syndrome and a family history of early-age colorectal cancer. The proband presented initially with colonic oligopolyposis and adenosquamous carcinoma of the caecum. He later developed several malignancies, including undifferentiated carcinoma of the parotid, grade 4 IDH-mutant astrocytoma, and ampulla of Vater adenocarcinoma. The patient was older than typical for this disease and had a remarkably prolonged survival despite developing four distinct aggressive malignancies. The current report highlights the challenges in assessing the pathogenicity of the identified variant and the remarkable phenotypic diversity in CMMRD

Actes du 12e Colloque annuel des étudiant-e-s de cycles supérieurs du CRISES

La 12e édition du Colloque annuel des étudiant-e-s de cycles supérieurs du CRISES s’est tenue les 25 et 26 mars 2010 à l’Université Laval. Trente et une (31) communications y ont été présentées sur des thèmes aussi diversifiés que le Vieillissement au travail, les Grappes industrielles, l’Immigration, les Défis de la gouvernance, la Gestion des ressources et les solidarités locales, incluant un atelier spécial sur les Avancées et les limites de l’innovation sociale. Les textes qui nous sont parvenus avant la date limite du 18 mars afin d’être soumis à un processus d’évaluation, ainsi que respectivement le texte et/ou les diapositives PowerPoint des conférenciers d’ouverture et de clôture sont contenus dans ces Actes. Nous tenons ici à remercier chaleureusement nos collègues du comité organisateur : Kamel Béji, Manon Boulianne et Frédéric Hanin et notre assistante : Carole-Anne Gauthier."VIEILLISSEMENT AU TRAVAIL" "APPROCHES DE LA GOUVERNANCE" "GRAPPES INDUSTRIELLES ET DÉVELOPPEMENT LOCAL" "GESTION DES RESSOURCES" "SOLIDARITÉS LOCALES" "IMMIGRATION ET IDENTITÉ" "L'INNOVATION SOCIALE: AVANCÉES ET LIMITES

Coagulase negative Staphylococcus bacteremia in hematopoietic stem cell transplant recipients: Clinical features and molecular characterization

The purpose of our study was to investigate the epidemiology of coagulase negative staphylococci (CoNS) responsible for bacteremia in hematopoietic stem cell transplant (HSCT) recipients and to determine the prevalence and the genetic background of methicillin resistance. The prevalence of CoNS bacteremia was 7.4% (54/728), higher in allograft (10.7%) than in autograft (4.7%) recipients. A sepsis or a septic shock were observed in 9% of cases. No deaths were attributable to CoNS bacteremia. The methicillin resistance rate was 81%. All MR-CoNS, harbored mecA gene and 90% were typeable with SCCmec typing using PCR amplification. The SCCmec type IV was the most frequent (44%). Clonal dissemination of MR-Staphylococcus epidermidis strains was limited. Our study showed a low prevalence and favorable outcome of CoNS bacteremia in HSCT recipients with limited clonal diffusion. However, they were associated with a significant rate of severe infections and a high rate of methicillin resistance, mediated by SCCmec IV element in most cases

Table_1_Constitutional mismatch repair deficiency syndrome with atypical features caused by a homozygous MLH1 missense variant (c.1918C>A, p.(Pro640Thr)): a case report.docx

Constitutional mismatch repair deficiency (CMMRD) syndrome is a rare autosomal recessive genetic disorder caused by biallelic germline mutations in one of the mismatch repair genes. Carriers are at exceptionally high risk for developing, typically in early life, hematological and brain malignancies, as well as cancers observed in Lynch syndrome. We report a homozygous MLH1 missense variant (c.1918C>A p.(Pro640Thr)) in a Tunisian patient with CMMRD syndrome and a family history of early-age colorectal cancer. The proband presented initially with colonic oligopolyposis and adenosquamous carcinoma of the caecum. He later developed several malignancies, including undifferentiated carcinoma of the parotid, grade 4 IDH-mutant astrocytoma, and ampulla of Vater adenocarcinoma. The patient was older than typical for this disease and had a remarkably prolonged survival despite developing four distinct aggressive malignancies. The current report highlights the challenges in assessing the pathogenicity of the identified variant and the remarkable phenotypic diversity in CMMRD.</p