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Constitutional Mismatch Repair Deficiency Syndrome in a patient from India [PDF]

Clinical Case Reports, 2020
This report highlights an extremely rare genetic condition constitutional mismatch repair deficiency (CMMRD) in an Indian pediatric patient with dual malignancies, who suffered from transient encephalopathy, a rare side effect of the drug Nivolumab and ...
Chandramallika Paul, Subhosmito Chakraborty, Sarit Chakraborty, Kalyan Goswami   +3 more
doaj   +4 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   +10 more sources

Genotype-phenotype correlations in PMS2-associated constitutional mismatch repair deficiency: a systematic literature review [PDF]

Oncology Reviews
Constitutional mismatch repair deficiency (CMMRD) is a rare pediatric cancer predisposition syndrome primarily characterised by central nervous system (CNS), gastro-intestinal (GI) tumours and hematological malignancies, along with NF1-like cutaneous ...
Cătălin Vasile Munteanu, Cătălin Vasile Munteanu, Diana Luisa Lighezan, Diana Luisa Lighezan, Alexandru Capcelea, Alexandru Capcelea, Adela Chiriță-Emandi, Adela Chiriță-Emandi, Adela Chiriță-Emandi, Adrian Pavel Trifa, Adrian Pavel Trifa, Adrian Pavel Trifa   +11 more
doaj   +4 more sources

Unraveling mutagenic processes influencing the tumor mutational patterns of individuals with constitutional mismatch repair deficiency [PDF]

Nature Communications
Constitutional mismatch repair deficiency (CMMRD), caused by bi-allelic germline variants in mismatch repair (MMR) genes, is associated with high cancer incidence early in life.
Dilys D. Weijers, Snežana Hinić, Emma Kroeze, Mark AJ Gorris, Gerty Schreibelt, Sjors Middelkamp, Arjen R. Mensenkamp, Reno Bladergroen, Kiek Verrijp, Nicoline Hoogerbrugge, Pieter Wesseling, Rachel S. van der Post, Jan LC Loeffen, Corrie EM Gidding, Mariëtte CA van Kouwen, I. Jolanda M. de Vries, Ruben van Boxtel, Richarda M. de Voer, Marjolijn CJ Jongmans, Roland P. Kuiper   +19 more
doaj   +4 more sources

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

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   +4 more sources

Intensive surveillance endoscopy for multiple gastrointestinal tumors in a patient with constitutional mismatch repair deficiency: case report [PDF]

BMC Gastroenterology, 2021
Background Constitutional mismatch repair deficiency (CMMRD) is an extremely rare autosomal recessive hereditary disease characterized by the absence of mismatch repair gene activity from birth, which results in brain tumors, colonic polyposis ...
Takayuki Ando, Takahiko Nakajima, Rei Fukuda, Keiko Nomura, Yo Niida, Miho Sakumura, Iori Motoo, Hiroshi Mihara, Sohachi Nanjo, Shinya Kajiura, Haruka Fujinami, Shojo Hojo, Tsutomu Fujii, Ichiro Yasuda   +13 more
doaj   +2 more sources

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

Frontiers in Oncology, 2023
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.
Firas Akrout, Firas Akrout, Ahlem Achour, Ahlem Achour, Ahlem Achour, Carli M. J. Tops, Richard Gallon, Rym Meddeb, Rym Meddeb, Sameh Achoura, Sameh Achoura, Mariem Ben Rekaya, Mariem Ben Rekaya, Emna Hamdeni, Soumaya Rammeh, Soumaya Rammeh, Ridha Chkili, Ridha Chkili, Nada Mansouri, Nada Mansouri, Neila Belguith, Neila Belguith, Ridha Mrad, Ridha Mrad   +23 more
doaj   +2 more sources

Presentation of Acute Lymphoblastic Lymphoma and Colorectal Carcinoma in the Context of Constitutional Mismatch Repair Deficiency Syndrome (CMMRD): a Case Report with Literature Review [PDF]

Journal of Cancer and Allied Specialties, 2021
Introduction: Constitutional mismatch repair deficiency (CMMRD) is a rare autosomal recessive disease-carrying an increased risk of cancers (pediatric tumors of central nervous system, haemato-lymphoid malignancies along with gastrointestinal (GI) cancer(
Muhammad Irfan Basheer, Iftikhar Ali Rana, Umer Nisar Sheikh, Muhammad Aasim Yusuf, Irfana Ishaq Sindhu, Asif Loya   +5 more
doaj   +2 more sources

This is not Lynch syndrome: lessons from misattributed diagnoses in constitutional mismatch repair deficiency [PDF]

ESMO Gastrointestinal Oncology
Background: Underdiagnosis of constitutional mismatch repair deficiency (CMMRD) syndrome leads to suboptimal cancer surveillance and management of CMMRD patients.
A.H. Mohammad, E. Rohr, A. Moise, R.M. Abdulsalam, W. Davalan, A. Rizzolo, A.S. Liberman, C. Goudie, L. Palma, W.D. Foulkes   +9 more
doaj   +2 more sources

Demystifying the Mystery of Genes: A Case Report on Constitutional Mismatch Repair Deficiency [PDF]

Indian Journal of Radiology and Imaging
Constitutional mismatch repair deficiency (CMMRD) is a rare childhood cancer predisposition syndrome that results from biallelic germline mutations in one of the four MMR genes, MLH1, MSH2, MSH6, or PMS2.
Jose Siju, Arpita Sahu, Kajari Bhattacharya, Maya Prasad, Rajiv Sarin, Tejpal Gupta   +5 more
doaj   +2 more sources