Results 41 to 50 of about 1,020 (131)

AOSNP‐ADAPTR resource level‐based recommendations on practical diagnostic strategies for medulloblastomas and other embryonal tumors

Brain Pathology, EarlyView.
Resource level‐based recommendations on practical diagnostic strategies for medulloblastomas and other CNS embryonal tumors are provided. Abstract WHO CNS5 mandates integrated histo‐molecular classification of medulloblastomas (MBs) and other CNS embryonal tumors. However, advanced molecular diagnostics remain inaccessible in many low‐ and lower‐middle‐
Chitra Sarkar, Maysa Al‐Hussaini, Vani Santosh, Vaishali Suri, Sung‐Hye Park, Yue‐Shan Piao, Tarik Tihan, Ho‐Keung Ng, Michael Buckland, Rakesh Jalali, Yonehiro Kanemura, Pieter Wesseling, Takashi Komori   +12 more
wiley   +1 more source

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

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   +1 more source

The Role of “Adult‐Onset” Cancer Predisposition Genes in Pediatric Cancer: A Comprehensive Review

Pediatric Blood &Cancer, Volume 73, Issue 9, September 2026.
ABSTRACT Current literature estimates that 10% of pediatric cancers are caused by pathogenic or likely pathogenic (P/LP) germline variants in cancer predisposition genes (CPGs). Variants in CPGs thought to increase cancer risk exclusively during adulthood are referred to as “adult‐onset” CPGs (aoCPGs).
Maria Rozo, Miriam A. Bornhorst, Angela J. Waanders, Sara Zarnegar‐Lumley, Ashwin Lakshman Koppayi, Lucy A. Godley   +5 more
wiley   +1 more source

Biallelic Mismatch Repair Deficiency in Children and Adolescents: A Review of Published and Unpublished Data from India—Need for an Indian Consortium

Indian Journal of Medical and Paediatric Oncology
Introduction Biallelic mismatch repair deficiency or constitutional mismatch repair deficiency (CMMRD) is a rare and aggressive pediatric cancer predisposition syndrome that occurs as a result of homozygous (biallelic) pathogenic variants in ...
Gazel Sainulabdin, Purva Kanvinde, Ritika Khurana, Sangeeta Mudaliar, Vasudeva Bhat K, Anju Shukla, V. P. Krishnan, Yamini Krishnan   +7 more
doaj   +1 more source

Beyond germline genetic testing - heterozygous pathogenic variants in PMS2 in two children with Osteosarcoma and Ependymoma

Hereditary Cancer in Clinical Practice, 2023
Background Lynch syndrome (LS) is not considered part of childhood cancer predisposition syndromes. Case presentation Analysis of a pediatric osteosarcoma (OS) displayed hypermutation (16.8), alternative lengthening of telomeres (ALT), loss of PMS2 ...
Michaela Kuhlen, Mariola Monika Golas, Tina Schaller, Nicole Stadler, Felicitas Maier, Olaf Witt, Michael C. Frühwald   +6 more
doaj   +1 more source

Pediatric Colorectal Cancer in Africa: A Multicenter Study on Epidemiology, Management, and Outcomes Between 2000 and 2023

JGH Open, Volume 10, Issue 7, July 2026.
ABSTRACT Introduction Colorectal cancer (CRC) is increasing in Africa, yet reports in children and adolescents are limited. We describe the epidemiology, management, and survival outcomes of CRC in African children. Methods Retrospective data of children under 19 years diagnosed with CRC between 2000 and 2023 were collected from 14 African countries ...
Jaques van Heerden, Joyce Balagadde‐Kambugu, Veronica Nyakato, Pamela Mwa, Fadhil Geriga, Barnabas Atwiine, Victoria Mwebe Katasi, Sarra Benmiloud, Laila Hessissen, Imène Chabchoub, Leolin Katsidzira, Eno‐Obong Bassey, Gashaw Arega, Ané Büchner, Jan du Plessis, Mark Siboe, Edrick Elias, Mulingilu Isabel Lumeka, Francine Kouya, Vivian Paintsil, Michelle Obat, Sarah Muma, Olufemi Adefehinti, Adeseye Michael Akinsete, Oluwafunmilayo Toyin Fagbemide, Ndeye Khady Ngom, Sara Marouf, Khaled Seddik, Salah Ahmed, Amany Mohamed Ali, Esraa Abdelkeriem, Reem Ragab, Yomna Mohamed, Moatasem Elayadi, on behalf of SIOP Africa Scientific Committee   +34 more
wiley   +1 more source

Constitutional mismatch repair deficiency as a differential diagnosis of neurofibromatosis type 1: consensus guidelines for testing a child without malignancy [PDF]

, 2019
Constitutional mismatch repair deficiency (CMMRD) is a rare childhood cancer predisposition syndrome caused by biallelic germline mutations in one of four mismatch-repair genes.
Ripperger, Tim, Menko, Fred H., Bourdeaut, F., Slavc, Irene, Kratz, Christian, Menko, Fred H, Menko, F.H., Colas, C., Vasen, Hans F., Brugires, L., Menko, Fred, Vasen, H.F., Legius, Eric, Suerink, M., Wimmer, K., Nielsen, Maartje, van Kouwen, Mariëtte, Messiaen, L., Goldberg, Y., Goldberg, Yael, Suerink, Manon, Muleris, M., Brugiѐres, Laurence, Slavc, I., Jongmans, Marjolijn, Kouwen, M. van, Colas, Chrystelle, Muleris, Martine, Wimmer, Katharina, Vasen, Hans, Kouwen, M.C.A. van, Legius, E., Brugieres, Laurence, Kratz, C., Messiaen, Ludwine, Jongmans, M., Nielsen, M., Bourdeaut, Franck, Vasen, Hans F, Ripperger, T., Brugieres, L.   +40 more
core   +1 more source

The Challenge of Diagnosing Constitutional Mismatch Repair Deficiency Syndrome in Brain Malignancies from Young Individuals [PDF]

, 2021
Biallelic germline mismatch repair (MMR) gene (MLH1, MSH2, MSH6, and PMS2) mutations are an extremely rare event that causes constitutional mismatch repair deficiency (CMMRD) syndrome.
Del Valle, Jesús, Musulén, Eva, Esteller, M, Marta Pineda, Carrato, Cristina, Blanco Guillermo, Ignacio, Estela Dámaso, Universitat Autònoma de Barcelona. Departament de Medicina, Ana María Muñoz-Mármol, Manel Esteller, Esteller, Manel, Carolina Sanz, Muñoz Mármol, Ana María, Jesús Del Valle, Muñoz-Mármol, Ana Maria, Pineda Riu, Marta, Sanz, Carolina, Cristina Carrato, Pineda, Marta, Dámaso, Estela, Valle Domínguez, Jesús del, Ignacio Blanco, Eva Musulen   +22 more
core   +1 more source

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

JCO Global Oncology
PURPOSEConstitutional mismatch repair deficiency (CMMRD) is a genetic cancer predisposition syndrome among children and young adults. This study aimed to evaluate the frequency of CMMRD among patients with pediatric high-grade glioma (pHGG) in a single ...
Naureen Mushtaq, Khurram Minhas, Farrah Bashir, Soha Zahid, Bilal Mazhar Qureshi, Gohar Javed, Shahzadi Resham, Anirban Das, Cynthia Hawkins, Uri Tabori, Eric Bouffet   +10 more
doaj   +1 more source

Incidental Colorectal Adenomas in Adolescents: Clinical Management, Genetic Evaluation, and Surveillance

Journal of Gastroenterology and Hepatology, Volume 41, Issue 6, Page 1743-1750, June 2026.
Adolescents with incidental colorectal adenomas require age‐conscious management balancing referral for genetic counseling with evidence‐based surveillance. This narrative review proposes a pragmatic clinical algorithm integrating adenoma characteristics, hereditary risk assessment, and guideline‐concordant follow‐up to support individualized ...
Brett J. Hoskins, Shlomi Cohen, Colleen B. Flahive, Isabel Rojas, Aparajita Singh, Thomas M. Attard   +5 more
wiley   +1 more source