Article
Oncology
Peter A. DeRosa, Kyle C. Roche, Victor E. Nava, Sunita Singh, Min-Ling Liu, Anita Agarwal
Summary: Myelodysplastic syndromes (MDS) and Waldenstrom's macroglobulinemia (WM) rarely occur together. This case report describes a unique case of concurrent MDS and WM with multiple somatic mutations, some of which have not been reported before, and a novel balanced reciprocal translocation.
Article
Oncology
Danny Legge, Ling Li, Whei Moriarty, David Lee, Marianna Szemes, Asef Zahed, Leonidas Panousopoulos, Wan Yun Chung, Yara Aghabi, Jasmin Barratt, Richard Williams, Kathy Pritchard-Jones, Karim T. A. Malik, Sebastian Oltean, Keith W. Brown
Summary: The study revealed that epigenetic inactivation of ESRP2 disrupts the mesenchymal to epithelial transition in early kidney development, leading to the formation of Wilms tumour (WT). Reactivation of ESRP2 expression by DNA methyltransferase inhibition suppressed cellular proliferation in WT cell lines and inhibited tumor growth in vivo.
MOLECULAR ONCOLOGY
(2022)
Article
Plant Sciences
Andrew Steed, Julie King, Surbhi Grewal, Cai-yun Yang, Martha Clarke, Urmila Devi, Ian P. King, Paul Nicholson
Summary: A diverse panel of wheat wild relative species was screened for resistance to Fusarium head blight (FHB) and the majority was found to be susceptible. However, specific accessions of Triticum timopheevii, Agropyron desertorum, and Elymus vaillantianus exhibited high resistance to FHB. Further analysis revealed that the resistance in Triticum timopheevii was due to enhanced resistance to initial infection of the fungus. Additionally, introgression lines with a specific portion of Triticum timopheevii chromosome significantly enhanced FHB resistance in wheat.
FRONTIERS IN PLANT SCIENCE
(2022)
Review
Oncology
Janna A. Hol, Illja J. Diets, Ronald R. de Krijger, Marry M. van den Heuvel-Eibrink, Marjolijn C. J. Jongmans, Roland P. Kuiper
Summary: TRIM28 has been identified as a predisposition gene for Wilms' tumour (WT), with germline pathogenic variants associated with epithelial WT. Loss of TRIM28 protein expression in tumour tissue is an effective strategy for identifying patients with TRIM28 variants. Further exploration of TRIM28-associated WT will help uncover the mechanisms underlying tumour development.
JOURNAL OF PATHOLOGY
(2021)
Article
Pathology
Alicia Tourneret, Melissa Alame, Valerie Rigau, Luc Bauchet, Michel Fabbro, Laura De Oliveira, Valere Cacheux, Valerie Costes, Vanessa Lacheretz-Szablewski
Summary: The study identified atypical/unbalanced gene rearrangements in 19.6% of DLBCL patients, who had poorer prognosis compared to those with simple gene rearrangements. Detection of these abnormalities through FISH analysis at diagnosis is crucial for predicting outcomes in DLBCL patients.
JOURNAL OF CLINICAL PATHOLOGY
(2021)
Article
Endocrinology & Metabolism
Michael R. Clay, Emilia M. Pinto, Lauren Fishbein, Tobias Else, Katja Kiseljak-Vassiliades
Summary: ACC is a rare endocrine malignancy with significant heterogeneity in terms of outcomes and clinical presentations. Pathological characteristics like tumor stage, resection status, and Ki67 have been identified as prognostic markers, but up to 25% of patients have different outcomes than predicted. Comprehensive genomic profiling studies and clinically applicable molecular markers are being used to further stratify outcomes in ACC patients.
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM
(2022)
Article
Biochemistry & Molecular Biology
Jolique A. van Ipenburg, Quincy C. C. van den Bosch, Dion Paridaens, Hendrikus J. Dubbink, Emine Kilic, Nicole Naus, Robert M. Verdijk, Rotterdam Ocular Melanoma Study Grp
Summary: This study aimed to determine the prognostic value of ATRX loss in conjunctival melanocytic lesions and found that ATRX loss and TERT promoter mutations are only found in (pre)malignant conjunctival melanocytic lesions, with most metastatic cases harboring one of these alterations, suggesting that both alterations are associated with adverse behavior. Similar to TERT promoter mutations, ATRX loss may be used as a diagnostic tool in determining whether a conjunctival melanocytic lesion is prone to having an adverse course.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2023)
Article
Ophthalmology
Marina Knudsen Kirkegaard, Marthe Minderman, Lene Dissing Sjo, Steven T. Pals, Patrick R. G. Eriksen, Steffen Heegaard
Summary: This study aimed to reclassify ocular adnexal large B-cell lymphomas (OA-LBCLs) and investigate the prevalence and association of MYD88 and CD79B mutations with clinical parameters. The results revealed that OA-LBCL mainly consists of two subtypes, and MYD88 mutations, as well as cMYC/BCL2 double-expressor DLBCL, are associated with poor prognosis.
BRITISH JOURNAL OF OPHTHALMOLOGY
(2023)
Review
Cell Biology
Gordan M. Vujanic, Ellen D'Hooghe, Christian Vokuhl, Paola Collini
Summary: ICCR develops datasets for histopathological reporting of various cancer types, but international reporting guidelines for Wilms' tumors have not been established yet. Different treatment approaches result in varied assessment methods and classification criteria followed by countries worldwide.
Review
Oncology
Janna A. Hol, Rosalyn Jewell, Tanzina Chowdhury, Catriona Duncan, Kayo Nakata, Takaharu Oue, Marion Gauthier-Villars, Annemieke S. Littooij, Yasuhiko Kaneko, Norbert Graf, Franck Bourdeaut, Marry M. van den Heuvel-Eibrink, Kathy Pritchard-Jones, Eamonn R. Maher, Christian P. Kratz, Marjolijn C. J. Jongmans
Summary: The updated Wilms tumour surveillance guidelines have been released for clinical geneticists, pediatricians, pediatric oncologists, and radiologists caring for children at risk of WT. These guidelines stress the importance of registering all patients with cancer predisposition syndromes in order to improve future tumor risk estimation and surveillance programs.
EUROPEAN JOURNAL OF CANCER
(2021)
Article
Pediatrics
Radu Ninel Balanescu, Alexandru Emil Baetu, Andreea Alecsandra Moga, Laura Balanescu
Summary: This study demonstrates the value of ultrasound in the diagnosis of Wilms' tumour, as it can detect various important information, although it cannot replace CT in certain aspects.
Review
Oncology
Thomas J. Jackson, Herve J. Brisse, Kathy Pritchard-Jones, Kayo Nakata, Carlo Morosi, Takahara Oue, Sabine Irtan, Gordan Vujanic, Marry M. van den Heuvel-Eibrink, Norbert Graf, Tanzina Chowdhury
Summary: The International Society of Paediatric Oncology Renal Tumour Study Group advocates preoperative chemotherapy for children with Wilms tumour, while other countries often choose to perform biopsies on some children with renal tumors to determine specific treatment plans.
PEDIATRIC BLOOD & CANCER
(2022)
Article
Immunology
Xiao-Mao Tian, Bin Xiang, Li-Ming Jin, Tao Mi, Jin-Kui Wang, Chenghao Zhanghuang, Zhao-Xia Zhang, Mei-Ling Chen, Qin-Lin Shi, Feng Liu, Tao Lin, Guang-Hui Wei
Summary: A novel immune signature has been established using high-throughput RNA sequencing and analysis of immune-related genes, which can predict prognosis and immunotherapy response in children with Wilms tumour (WT). This signature also reflects immune status and immune cell infiltration in the tumour microenvironment, and is significantly associated with immune checkpoint molecules.
FRONTIERS IN IMMUNOLOGY
(2022)
Article
Medicine, General & Internal
Marije Hoogland, Ivar Bleumer, Albert Suurmeijer
Summary: Microcystic stromal tumour (MCST) is a rare type of gonadal sex cord-stromal tumour, mostly occurring in the ovary with only a few cases reported in the testis. We present a case of MCST in the right testis and discuss the immunohistochemical and molecular diagnostic findings. The clinical follow-up for this case was uneventful.
Article
Cell Biology
Felix K. F. Kommoss, Anne-Sophie Chong, Maria Apellaniz-Ruiz, Gulisa Turashvili, Kay J. Park, Krisztina Hanley, Elvis Terci Valera, Andreas von Deimling, Gordan Vujanic, W. Glenn McCluggage, William D. Foulkes
Summary: In this study, we comprehensively characterized a series of five tumours originally diagnosed as ovarian WT, and found that teratoma-associated tumours and pure ovarian WT exhibit diverging morphological and molecular features.
Review
Pediatrics
Colleen Pawliuk, Briana Chau, S. Rod Rassekh, Terri McKellar, Harold Hal Siden
Summary: There is a lack of evidence on the efficacy and safety of medicinal cannabis in most paediatric conditions, with only a few studies focusing on treatment-resistant epilepsy and a few other conditions in children and adolescents.
PAEDIATRICS & CHILD HEALTH
(2021)
Article
Pediatrics
Diana J. Moke, Chunqiao Luo, Joshua Millstein, Kristin R. Knight, Shahrad R. Rassekh, Beth Brooks, Colin J. D. Ross, Michael Wright, Victoria Mena, Teresa Rushing, Adam J. Esbenshade, Bruce C. Carleton, Etan Orgel
Summary: This study aimed to address persistent knowledge gaps in cisplatin-induced hearing loss (CIHL) by establishing benchmarks for its prevalence and risk factors. The research found that younger patients and those with CNS tumors, hepatoblastoma, or neuroblastoma were more likely to develop moderate or severe CIHL. Differences in cisplatin dosing confer additive risk for developing CIHL.
LANCET CHILD & ADOLESCENT HEALTH
(2021)
Article
Pharmacology & Pharmacy
Catrina M. Loucks, Kevin Yan, Reo Tanoshima, Colin J. D. Ross, Shahrad R. Rassekh, Bruce C. Carleton
Summary: Anthracyclines can cause cardiotoxicity, a serious adverse drug reaction, in pediatric oncology patients. Both clinical and genetic factors play a role in determining an individual's risk of experiencing this reaction. By combining pharmacogenetic testing results, treatment decisions can be optimized to prevent adverse drug reactions and improve patient outcomes.
BASIC & CLINICAL PHARMACOLOGY & TOXICOLOGY
(2022)
Article
Oncology
Annelot J. M. Meijer, Kathy H. Li, Beth Brooks, Eva Clemens, Colin J. Ross, Sharad R. Rassekh, Alex E. Hoetink, Martine van Grotel, Marry M. van den Heuvel-Eibrink, Bruce C. Carleton
Summary: The study showed that the incidence of cisplatin-induced hearing loss (CIHL) is higher in young children compared to older children, with rapid progression within the first three years of treatment. Factors such as cumulative dose of cisplatin, vincristine, and duration of concomitantly administered antibiotics also play a role in the development of CIHL over time. These findings emphasize the importance of regular audiological monitoring during cisplatin therapy.
Review
Psychology, Developmental
Sarah Fletcher, Colleen Pawliuk, Angie Ip, Linda Huh, S. Rod Rassekh, Tim F. Oberlander, Harold Siden
Summary: This scoping review aimed to identify and map symptoms, outcomes, and adverse events related to medicinal cannabis treatment for ASD-related behaviors. The findings suggest that medicinal cannabis can improve symptoms significantly, with a large proportion of subjects benefiting, but adverse events were also reported. Due to limitations in study design, further evidence from prospective clinical trials on safety and efficacy is needed.
CHILD CARE HEALTH AND DEVELOPMENT
(2022)
Article
Ethics
Margot Gunning, Ari Rotenberg, James Anderson, Lynda G. Balneaves, Tracy Brace, Bruce Crooks, Wayne Hall, Lauren E. Kelly, S. Rod Rassekh, Michael Rieder, Alice Virani, Mark A. Ware, Zina Zaslawski, Harold Siden, Judy Illes
Summary: The lack of guidance and regulation for authorizing medical cannabis for children and youth raises ethical concerns, including access inequities and inconsistent risk-benefit evaluations. Stakeholders emphasized the importance of adaptive study designs and trust-building between clinicians, patients, and caregivers.
Article
Medicine, Research & Experimental
Britt Drogemoller, Galen E. B. Wright, Jessica Trueman, Kaitlyn Shaw, Michelle Staub, Shahnaz Chaudhry, Fudan Miao, Michelle Higginson, Gabriella S. S. Groeneweg, James Brown, Laura A. Magee, Simon D. Whyte, Nicholas West, Sonia M. Brodie, Geert 't Jong, Sara Israels, Howard Berger, Shinya Ito, Shahrad R. Rassekh, Shubhayan Sanatani, Colin J. D. Ross, Bruce C. Carleton
Summary: This study provides insights into the genomic basis of ondansetron-induced cardiac changes and highlights the importance of genes implicated in serotonin-related traits. These findings are biologically relevant and represent the first step towards improving the safety of this commonly used antiemetic medication.
BIOMEDICINE & PHARMACOTHERAPY
(2022)
Article
Pediatrics
Zulfan Zazuli, Catharina J. P. Op 't Hoog, Susanne J. H. Vijverberg, Rosalinde Masereeuw, Shahrad Rod Rassekh, Mara Medeiros, Rodolfo Rivas-Ruiz, Anke H. van der Zee, Bruce C. Carleton
Summary: This study evaluated the incidence of kidney injury in children who received cisplatin using different definitions. The Alt-AKI criteria detected more cases of nephrotoxicity compared to pRIFLE and KDIGO criteria. pRIFLE was more sensitive at detecting actual kidney injury and patients at risk, while KDIGO was better at detecting clinically significant kidney injury.
PEDIATRIC NEPHROLOGY
(2023)
Article
Pediatrics
Kelly R. McMahon, Asaf Lebel, Shahrad Rod Rassekh, Kirk R. Schultz, Tom D. Blydt-Hansen, Geoffrey D. E. Cuvelier, Cherry Mammen, Maury Pinsk, Bruce C. Carleton, Ross T. Tsuyuki, Colin J. D. Ross, Louis Huynh, Mariya Yordanova, Frederik Crepeau-Hubert, Stella Wang, Ana Palijan, Jasmine Lee, Debbie Boyko, Michael Zappitelli
Summary: This study examines the burden of acute kidney injury (AKI) and kidney outcomes in pediatric patients receiving cisplatin therapy. Severe electrolyte abnormalities were found to be associated with kidney outcomes, highlighting the need for dose optimization and follow-up guidelines in post-cisplatin care.
PEDIATRIC NEPHROLOGY
(2023)
Review
Health Care Sciences & Services
Angela Siemens, Spencer J. Anderson, S. Rod Rassekh, Colin J. D. Ross, Bruce C. Carleton
Summary: Polygenic models can be used to predict complex traits and drug outcomes, but there are challenges in constructing and validating these models, such as the heterogeneity of performance measures and comparison with clinical predictors.
JOURNAL OF PERSONALIZED MEDICINE
(2022)
Review
Oncology
Manik Chhabra, Mohamed Ben-Eltriki, Arun Paul, Me-Linh Le, Anthony Herbert, Sapna Oberoi, Natalie Bradford, Alison Bowers, S. Rod Rassekh, Lauren E. Kelly
Summary: There is a lack of rigorous evidence to support the use of cannabis products in children with cancer, and more research is urgently needed.
Editorial Material
Oncology
Hoyoung Jung, Ravjot Dhatt, S. Rod Rassekh, Manraj K. S. Heran
PEDIATRIC HEMATOLOGY AND ONCOLOGY
(2023)
Article
Urology & Nephrology
Kelly R. McMahon, Hayton Chui, Shahrad Rod Rassekh, Kirk R. Schultz, Tom D. Blydt-Hansen, Cherry Mammen, Maury Pinsk, Geoffrey D. E. Cuvelier, Bruce C. Carleton, Ross T. Tsuyuki, Colin J. D. Ross, Prasad Devarajan, Louis Huynh, Mariya Yordanova, Frederik Crepeau-Hubert, Stella Wang, Vedran Cockovski, Ana Palijan, Michael Zappitelli
Summary: This study aimed to explore the excretion patterns of urinary NGAL and KIM-1 and their associations with AKI in cisplatin-treated children. The results suggest that these biomarkers have modest discriminative ability for AKI.
Article
Oncology
Sapna Oberoi, Jennifer L. P. Protudjer, Adam Rapoport, Shahrad R. Rassekh, Bruce Crooks, Harold Siden, Kathleen Decker, Prasanna Ananth, Stacy Chapman, Lynda G. Balneaves, Magimairajan Issai Vanan, Lauren E. Kelly
Summary: Most pediatric oncologists and palliative care physicians recognize a potential role for cannabis in symptom control in children with cancer, although only a small number believe cannabis may be beneficial for cancer itself. They desire more information about dosing, side effects, and safety of cannabis, and emphasize the importance of research on cannabis for symptom relief.
Review
Pediatrics
Colleen Pawliuk, Briana Chau, S. Rod Rassekh, Terri McKellar, Harold (Hal) Siden
Summary: The evidence for the efficacy and safety of medicinal cannabis in most pediatric conditions is lacking.
PAEDIATRICS & CHILD HEALTH
(2021)
