Results 21 to 30 of about 1,020 (131)

Colorectal cancer in a 13‐year‐old with constitutional mismatch repair deficiency and MUTYH heterozygosity [PDF]

JPGN Reports, Volume 6, Issue 3, Page 288-291, August 2025.
Abstract Constitutional mismatch repair deficiency (CMMRD) is a rare hereditary cancer syndrome resulting from biallelic mutations in DNA mismatch repair (MMR) genes that lead to early‐onset cancers in children, including lymphoma and colorectal cancer (CRC).
Chloe J. Cohan, Caroline Chinchilla Putzeys, Brianna Pruniski, Paul Tran   +3 more
wiley   +2 more sources

High Grade Dysplastic Rectal Adenoma in a Young Patient With Café‐Au‐Lait Spots: A Case Report [PDF]

Clinical Case Reports, Volume 13, Issue 10, October 2025.
ABSTRACT Colorectal cancer screening guidelines typically focus on familial history and age‐related risk factors, yet Café‐au‐lait macules could serve as early indicators for tailored surveillance protocols. This case underscores the importance of considering extracolonic manifestations in young patients presenting with colorectal symptoms.
Ali Hamdan, Razan Abou Zeid, Jana Khalil, Karam Karam, Elias Fiani   +4 more
wiley   +2 more sources

Constitutional mismatch repair deficiency mimicking Lynch syndrome is associated with hypomorphic mismatch repair gene variants [PDF]

npj Precision Oncology
Lynch syndrome (LS) and constitutional mismatch repair deficiency (CMMRD) are distinct cancer syndromes caused, respectively, by mono- and bi-allelic germline mismatch repair (MMR) variants.
Richard Gallon, Carlijn Brekelmans, Marie Martin, Vincent Bours, Esther Schamschula, Albert Amberger, Martine Muleris, Chrystelle Colas, Jeroen Dekervel, Gert De Hertogh, Jérôme Coupier, Orphal Colleye, Edith Sepulchre, John Burn, Hilde Brems, Eric Legius, Katharina Wimmer   +16 more
doaj   +2 more sources

Constitutional Microsatellite Instability, Genotype, and Phenotype Correlations in Constitutional Mismatch Repair Deficiency [PDF]

, 2023
Background & Aims: Constitutional mismatch repair deficiency (CMMRD) is a rare recessive childhood cancer predisposition syndrome caused by germline mismatch repair (MMR) variants.
Brugieres, Laurence, Colas, Chrystelle, Gallon, Richard, Guerrini-Rousseau, Léa, Muleris, Martine, Evans, D. Gareth; id_orcid, Phelps, Rachel, Hayes, Christine, Ryan, Neil A. J.   +8 more
core   +4 more sources

High Prevalence of Constitutional Mismatch Repair Deficiency in a Pediatric T-cell Lymphoblastic Lymphoma Cohort

HemaSphere, 2022
This study describes the clinical characteristics of a complete Dutch T-cell lymphoblastic lymphoma (T-LBL) cohort, including second primary malignancies and comorbidities.
Emma Kroeze, Dilys D. Weijers, Melanie M. Hagleitner, Hester A. de Groot-Kruseman, Marjolijn C. J. Jongmans, Roland P. Kuiper, Rob Pieters, Jules P. P. Meijerink, Jan L. C. Loeffen   +8 more
doaj   +1 more source

Diagnostic challenges in a CMMRD patient with a novel mutation in the PMS2 gene: a case report

BMC Medical Genomics, 2021
Background Constitutional mismatch repair deficiency (CMMRD) is a rare autosomal recessive condition, which is caused by biallelic mutations in mismatch repair genes: MSH2, MLH1, MSH6, and PMS2.
Shiqing Tan, Xiaoting Wu, Aoxue Wang, Li Ying   +3 more
doaj   +1 more source

Diagnostic criteria for constitutional mismatch repair deficiency (CMMRD): recommendations from the international consensus working group

, 2021
International audienceBackground Constitutional mismatch repair deficiency syndrome (CMMRD) is the most aggressive cancer predisposition syndrome associated with multiorgan cancers, often presenting in childhood.
Aronson, Melyssa, Colas, Chrystelle, Tabori, Uri, Baris Feldman, Hagit, Foulkes, William,, Muleris, Martine, Hampel, Heather, Foulkes, William, D, Foulkes, William, Mcgee, Rose, Brugieres, Laurence, Jasperson, Kory, Mcgee, Rose, B, Shuen, Andrew, Goldberg, Yael, Rangaswami, Arun, Wolfe Schneider, Kami, Mcgee, Rose,   +17 more
core   +1 more source

Constitutional mismatch repair deficiency is the diagnosis in 0.41% of pathogenic NF1/SPRED1 variant negative children suspected of sporadic neurofibromatosis type 1 [PDF]

, 2020
\ua9 2020, The Author(s). Purpose: Biallelic germline mismatch repair (MMR) gene pathogenic variants (PVs) cause constitutional MMR deficiency (CMMRD), a highly penetrant childhood cancer syndrome phenotypically overlapping with neurofibromatosis type 1 (
Gomes A, Santibanez-Koref M, Gallon R, Zschocke J, Keller M, Wimmer K, Jackson MS, Oberhuber K, Koch J, Messiaen L, Perez-Valencia JA, Chen Y, Burn J   +12 more
core   +4 more sources

Heterogeneous constitutional mismatch repair deficiency with MSH6 missense mutation clinically benefits from pembrolizumab and regorafenib combination therapy: a case report and literature review

Hereditary Cancer in Clinical Practice, 2021
Background Germline DNA mismatch repair (MMR) gene aberrations are associated with colorectal cancer (CRC) predisposition and high tumor mutation burden (TMB-H), with increased likelihood of favorable response to immune checkpoint inhibitors (ICIs). Case
Tong Xie, Qin Feng, Zhongwu Li, Ming Lu, Jian Li, Analyn Lizaso, Jianxing Xiang, Lu Zhang, Lin Shen, Zhi Peng   +9 more
doaj   +1 more source

Expression of PD-L1 in Microsatellite Instability High Tumours: A Retrospective Study [PDF]

Journal of Clinical and Diagnostic Research, 2023
Introduction: Microsatellite Instability (MSI) is the hallmark of Lynch syndrome/Constitutional Mismatch Repair Deficiency (CMMRD) and is also found in many sporadic cancers like colorectal cancer, endometrial, gastric, small intestine, urothelial ...
Dinisha Einstien, Gayathri Devi Thanigaimani, KS Mouleeswaran, A Prathiba, G Sarumathy, John Vergilin   +5 more
doaj   +1 more source