THE CLINICAL AND BIOLOGICAL LANDSCAPE OF CONSTITUTIONAL MISMATCH REPAIR DEFICIENCY: AN IRRDC STUDY

被引：0
|
作者：
Ercan, Ayse [1 ,2 ]
Das, Anirban [3 ]
Fernandez, Nicholas [1 ,4 ]
Chang, Yuan [1 ,4 ]
Negm, Logine [1 ,4 ]
Bianchi, Vanessa [1 ]
Stengs, Lucie [1 ]
Edwards, Melissa [1 ]
Villani, Anita [3 ]
Malkin, David [3 ]
Aronson, Melyssa [5 ]
Bouffet, Eric [3 ]
Tabori, Uri
机构：
[1] Hosp Sick Children, Arthur & Sonia Labatt Brain Tumour Res Ctr, Toronto, ON, Canada
[2] Univ Toronto, Inst Med Sci, Toronto, ON, Canada
[3] Hosp Sick Children, Haematol Oncol, Toronto, ON, Canada
[4] Univ Toronto, Dept Med Biophys, Toronto, ON, Canada
[5] Mt Sinai Hosp, Zane Cohen Ctr Digest Dis, Toronto, ON, Canada
来源：
PEDIATRIC BLOOD & CANCER | 2023年 / 70卷
关键词：
D O I：
暂无
中图分类号：
R73 [肿瘤学];
学科分类号：
100214 ;
摘要：
O236
引用
收藏
页码：S134 / S134
页数：1
相关论文
共 50 条
  • [1] THE CLINICAL AND BIOLOGICAL LANDSCAPE OF CNS CANCERS IN CONSTITUTIONAL MISMATCH REPAIR DEFICIENCY: AN IRRDC COHORT STUDY
    Ercan, Ayse Bahar
    Aronson, Melyssa
    Fernandez, Nicholas R.
    Chang, Yuan
    Liu, Zhihui Amy
    Negm, Logine
    Edwards, Melissa
    Bianchi, Vanessa
    Villani, Anita
    Malkin, David
    Hawkins, Cynthia
    Bouffet, Eric
    Das, Anirban
    Tabori, Uri
    NEURO-ONCOLOGY, 2024, 26
  • [2] Clinical and biological landscape of constitutional mismatch-repair deficiency syndrome: an International Replication Repair Deficiency Consortium cohort study
    Ercan, Ayse Bahar
    Aronson, Melyssa
    Fernandez, Nicholas R.
    Chang, Yuan
    Levine, Adrian
    Liu, Zhihui Amy
    Negm, Logine
    Edwards, Melissa
    Bianchi, Vanessa
    Stengs, Lucie
    Chung, Jiil
    Al-Battashi, Abeer
    Reschke, Agnes
    Lion, Alex
    Ahmad, Alia
    Lassaletta, Alvaro
    Reddy, Alyssa T.
    Al-Darraji, Amir F.
    Shah, Amish C.
    Van Damme, An
    Bendel, Anne
    Rashid, Aqeela
    Margol, Ashley S.
    Kelly, Bethany L.
    Pencheva, Bojana
    Heald, Brandie
    Lemieux-Anglin, Brianna
    Crooks, Bruce
    Koschmann, Carl
    Gilpin, Catherine
    Porter, Christopher C.
    Gass, David
    Samuel, David
    Ziegler, David S.
    Blumenthal, Deborah T.
    Kuo, Dennis John
    Hamideh, Dima
    Basel, Donald
    Khuong-Quang, Dong-Anh
    Stearns, Duncan
    Opocher, Enrico
    Carceller, Fernando
    Feldman, Hagit Baris
    Toledano, Helen
    Winer, Ira
    Scheers, Isabelle
    Fedorakova, Ivana
    Su, Jack M.
    Vengoechea, Jaime
    Sterba, Jaroslav
    LANCET ONCOLOGY, 2024, 25 (05): : 668 - 682
  • [3] Genetic and clinical determinants of constitutional mismatch repair deficiency syndrome: Report from the constitutional mismatch repair deficiency consortium
    Bakry, Doua
    Aronson, Melyssa
    Durno, Carol
    Rimawi, Hala
    Farah, Roula
    Alharbi, Qasim Kholaif
    Alharbi, Musa
    Shamvil, Ashraf
    Ben-Shachar, Shay
    Mistry, Matthew
    Constantini, Shlomi
    Dvir, Rina
    Qaddoumi, Ibrahim
    Gallinger, Steven
    Lerner-Ellis, Jordan
    Pollett, Aaron
    Stephens, Derek
    Kelies, Steve
    Chao, Elizabeth
    Malkin, David
    Bouffet, Eric
    Hawkins, Cynthia
    Tabori, Uri
    EUROPEAN JOURNAL OF CANCER, 2014, 50 (05) : 987 - 996
  • [4] No Overt Clinical Immunodeficiency Despite Immune Biological Abnormalities in Patients With Constitutional Mismatch Repair Deficiency
    Tesch, Victoria K.
    IJspeert, Hanna
    Raicht, Andrea
    Rueda, Daniel
    Dominguez-Pinilla, Nerea
    Allende, Luis M.
    Colas, Chrystelle
    Rosenbaum, Thorsten
    Ilencikova, Denisa
    Baris, Hagit N.
    Nathrath, Michaela H. M.
    Suerink, Manon
    Januszkiewicz-Lewandowska, Danuta
    Ragab, Iman
    Azizi, Amedeo A.
    Wenzel, Soeren S.
    Zschocke, Johannes
    Schwinger, Wolfgang
    Kloor, Matthias
    Blattmann, Claudia
    Brugieres, Laurence
    van der Burg, Mirjam
    Wimmer, Katharina
    Seidel, Markus G.
    FRONTIERS IN IMMUNOLOGY, 2018, 9
  • [5] Frequency and Impact of Constitutional Mismatch Repair Deficiency in Patients With High-Grade Glioma, a Retrospective Analysis of 7 Years in Pakistan: an IRRDC Study
    Mushtaq, Naureen
    Minhas, Khurram
    Bashir, Farrah
    Zahid, Soha
    Qureshi, Bilal Mazhar
    Javed, Gohar
    Resham, Shahzadi
    Das, Anirban
    Hawkins, Cynthia
    Tabori, Uri
    Bouffet, Eric
    JCO GLOBAL ONCOLOGY, 2025, 11
  • [6] Constitutional mismatch repair deficiency syndrome: clinical description in a French cohort
    Lavoine, N.
    Colas, C.
    Muleris, M.
    Bodo, S.
    Duval, A.
    Entz-Werle, N.
    Coulet, F.
    Cabaret, O.
    Andreiuolo, F.
    Charpy, C.
    Sebille, G.
    Wang, Q.
    Lejeune, S.
    Buisine, M. P.
    Leroux, D.
    Couillault, G.
    Leverger, G.
    Fricker, J. P.
    Guimbaud, R.
    Mathieu-Dramard, M.
    Jedraszak, G.
    Cohen-Hagenauer, O.
    Guerrini-Rousseau, L.
    Bourdeaut, F.
    Grill, J.
    Caron, O.
    Baert-Dusermont, S.
    Tinat, J.
    Bougeard, G.
    Frebourg, T.
    Brugieres, L.
    JOURNAL OF MEDICAL GENETICS, 2015, 52 (11) : 770 - 778
  • [7] Constitutional mismatch repair-deficiency syndrome
    Wimmer, Katharina
    Kratz, Christian P.
    HAEMATOLOGICA-THE HEMATOLOGY JOURNAL, 2010, 95 (05): : 699 - 701
  • [8] Diagnosis and Management of Constitutional Mismatch Repair Deficiency Syndrome
    Winter, Kelly
    Tan, Martin
    Briscoe, Eric
    Hyde, Alan
    Daniel Stanley, J.
    AMERICAN SURGEON, 2023, 89 (09) : 3953 - 3955
  • [9] Lymphoma associated with a constitutional mismatch repair deficiency syndrome: clinical description in a French cohort
    Lavoine, N.
    Denizeau, P.
    Colas, C.
    Entz-Werle, N.
    Couillault, G.
    Leverger, G.
    Bourdeaut, F.
    Macintyre, E.
    Patte, C.
    Brugieres, L.
    BRITISH JOURNAL OF HAEMATOLOGY, 2015, 171 : 32 - 32
  • [10] Constitutional POLE variants causing a phenotype reminiscent of constitutional mismatch repair deficiency
    Sehested, Astrid
    Meade, Julia
    Scheie, David
    Ostrup, Olga
    Bertelsen, Birgitte
    Misiakou, Maria Anna
    Sarosiek, Tomasz
    Kessler, Elena
    Melchior, Linea C.
    Munch-Petersen, Helga Fibiger
    Pai, Reetesh K.
    Schmuth, Matthias
    Gottschling, Hendrik
    Zschocke, Johannes
    Gallon, Richard
    Wimmer, Katharina
    HUMAN MUTATION, 2022, 43 (01) : 85 - 96
12345