Results 21 to 30 of about 2,093 (107)

Clinical and Molecular Characterization of 46 Patients With Beckwith–Wiedemann Spectrum and Uniparental Disomy of 11p15

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Beckwith–Wiedemann spectrum (BWSp) is an overgrowth disorder characterized by its main clinical features macrosomia, macroglossia, and abdominal wall defects. BWSp is caused by (epi)genetic chromosome 11p15 alterations with approximately 20%–27% of patients exhibiting mosaic paternal uniparental disomy of chromosome 11p15 (pUPD11p15).
Saskia M. Maas, Peter Lauffer, Niels Vos, Paola Lombardi, Marcel M. A. M. Mannens, Youp Zegers, Laura J. C. M. van Zutven, Aeilko H. S. Zwinderman, Mieke M. van Haelst, Jet Bliek   +9 more
wiley   +1 more source

A Familial Case of Thauvin–Robinet–Faivre Syndrome (TROFAS), Presenting With Postaxial Polydactyly and Upper Lip Vascular Malformation

Clinical Genetics, EarlyView.
These two siblings carrying the homozygous FIBP c.412‐3_415dupCAGTTTG variant, previously identified in several Turkish families, further delineate the clinical spectrum of TROFAS. Postaxial polydactyly and an upper lip vascular malformation, observed in Patient 2, have not previously been reported in association with this syndrome.
Federica Ruscitti, Xenia Latypova, Faustine Ageorges, Antonio Vitobello, Christophe Philippe, Frédéric Tran Mau Them, Yannis Duffourd, Georges Gelwane, Cherine Benzouid, Yline Capri   +9 more
wiley   +1 more source

Renal Neuroendocrine Tumor Mimicking Upper Tract Urothelial Carcinoma

IJU Case Reports, Volume 9, Issue 6, November 2026.
ABSTRACT Introduction Renal pelvic or peripelvic neuroendocrine tumors are rare and may radiologically mimic invasive upper tract urothelial carcinoma. Case Presentation A man in his 70s presented with two episodes of painless gross hematuria and lower urinary tract symptoms from benign prostatic hyperplasia.
Jia‐Yuh Sheu, Yun‐Sheng Wu, Jeff S. Chueh   +2 more
wiley   +1 more source

Nephrogenic Rests/Nephroblastomatosis in Patients With Unilateral Wilms Tumor Are Not Associated With an Increased Risk of Relapse: An Analysis of Patients Treated on the SIOP‐WT‐2001 Protocol in the SIOP‐UK‐CCLG and SIOP‐GPOH Studies (2001–2022)

Pediatric Blood &Cancer, Volume 73, Issue 10, October 2026.
ABSTRACT Introduction Nephrogenic rests (NRs) and nephroblastomatosis (NBM) are precursor lesions for development of Wilms tumor (WT). Their association with the risk of relapse has not been properly assessed, partly due to misunderstanding of their diagnostic criteria and terminology.
Gordan M. Vujanić, Rhoikos Furtwängler, Tanzina Chowdhury, Christian Vokuhl, Jenny Wegert, Norbert Graf   +5 more
wiley   +1 more source

High‐Resolution Genomic Characterization of WAGR Spectrum Disorder: Insights From a Novel Cohort and Literature Synthesis, and Validation of Patient‐Reported Data

American Journal of Medical Genetics Part A, Volume 200, Issue 9, Page 1989-1999, September 2026.
ABSTRACT WAGR spectrum disorder (WAGRSD) is an ultra‐rare congenital disorder caused by heterozygous deletion of chromosome 11p13. While classically associated with Wilms tumor, Aniridia, Genitourinary anomalies, and a Range of developmental delays, accurate delineation of the deletion is critical for prognosis because the phenotypic spectrum extends ...
Andrew M. George, Bamelak T. Duki, Zoe S. Katz, Aravind Viswanathan, Suzanne P. MacFarland, Evan R. Hathaway, Caitlin Monahan, John Morris, Kelly L. Trout, Shari M. Krantz, Arupa Ganguly, Jennifer M. Kalish   +11 more
wiley   +1 more source

Aniridia‐associated keratopathy: Clinical and molecular mechanisms of disease progression and emerging therapeutic targets

Acta Ophthalmologica, Volume 104, Issue 6, Page 604-615, September 2026.
Abstract Congenital aniridia is a rare genetic disorder primarily caused by pathogenic variants of the PAX6 gene. It leads to various panocular anomalies, including aniridia‐associated keratopathy (AAK). This review highlights recent insights into its pathogenesis, focusing on clinical staging, microstructural changes in the cornea and molecular ...
N. Szentmáry, S. Suiwal, M. Amini, F. N. Fries, A. Náray, L. Latta, Z. Li, S. Li, S. Liu, S. L. Hsu, S. Kundu, G. Tóth, S. Trusen, J. Zimmermann, B. Seitz, B. Käsmann‐Kellner, Z. Hoxha, A. Langenbucher, O. Stachs, M. Cortón‐Perez, K. Tory, A. Csorba, Z. Z. Nagy, M. C. Acosta, J. Gallar, M. Csidey, E. Maka, T. Stachon   +27 more
wiley   +1 more source

Adherence to Protocol Recommendations for Children With Wilms Tumour in Two Consecutive Studies in the United Kingdom and Ireland—Does Variation Matter?

Pediatric Blood &Cancer, Volume 73, Issue 7, July 2026.
ABSTRACT Background and Aims Wilms tumour (WT) has excellent event‐free and overall survival (OS). However, small differences exist between countries participating in the same international study. This led us to examine variation in adherence to protocol recommendations as a potential contributing factor.
Suzanne Tugnait, R. Al‐Saadi, A. Lopez‐Cortes, K. Dzhuma, M. Oostveen, J. Brok, S. Irtan, M. Weeks, J. Bate, S. Baker, R. Williams, M. Powis, D. Saunders, O. Olsen, T. Watson, S. Shelmerdine, S. Vaidya, L. Howell, C. Duncan, G. M. Vujanic, C. Stiller, G. P. Balchin, T. Chowdhury, K. Pritchard‐Jones   +23 more
wiley   +1 more source

Evaluating the Utility of Paired Tumor and Germline Targeted DNA Sequencing for Pediatric Oncology Patients: A Single Institution Report

Pediatric Blood &Cancer, Volume 73, Issue 7, July 2026.
ABSTRACT Objective To evaluate the diagnostic yield and utility of universal paired tumor–normal multigene panel sequencing in newly diagnosed pediatric solid and central nervous system (CNS) tumor patients and to compare the detection of germline pathogenic/likely pathogenic variants (PV/LPVs) against established clinical referral criteria for cancer ...
Natalie Waligorski, Rebecca Ronsley, Shannon M. Stasi, Jeffrey Stevens, Erin R. Rudzinski, Christina M. Lockwood, Sarah E. S. Leary, Bonnie L. Cole, Michelle A. Ting, Vera Paulson   +9 more
wiley   +1 more source

The Fate (Outcome) of Clinically Apparent Single Lesion and Oligofocal Nephroblastomatosis Treated According to SIOP/GPOH Protocols for Wilms Tumor

Pediatric Blood &Cancer, Volume 73, Issue 7, July 2026.
ABSTRACT Background The management of clinically apparent single lesions or oligofocal nephroblastomatosis, a facultative precursor of nephroblastoma, remains debated. Methods We retrospectively analyzed 37 patients with clinically apparent single or oligofocal nephroblastomatosis (two to three lesions per kidney) among 2347 patients registered between
Nils Welter, Jens‐Peter Schenk, Jenny Wegert, Manfred Gessler, Leo Kager, Stefan Wagenpfeil, Marina Müller, Jean‐Michel Wolff, Joerg Fuchs, Steven W. Warmann, Clemens‐Magnus Meier, Jochen Hubertus, Christian Rübe, Christian Vokuhl, Patrick Melchior, Lena Tschirner, Norbert Graf, Rhoikos Furtwängler   +17 more
wiley   +1 more source

An Atypical Presentation, Diagnostic Challenges, and Treatment Response of a Malignant Small Round Cell Tumor in the Lumbo‐Inguinal Region of an Infant

Clinical Case Reports, Volume 14, Issue 6, June 2026.
ABSTRACT Malignant small round cell tumors are a heterogeneous group of aggressive neoplasms characterized by small, round cell morphology. The undifferentiated cells in these tumors exhibit a high nuclear‐cytoplasmic ratio, and definitive histologic diagnosis via light microscopy can be extremely challenging. Diagnostic accuracy significantly improves
George Evele, Kouya Francine, Ngock George, Richard Bardin   +3 more
wiley   +1 more source