A5027249831- DNA Repair Mechanisms
- Acute Lymphoblastic Leukemia research
- Genomic variations and chromosomal abnormalities
- Acute Myeloid Leukemia Research
- Oral Health Pathology and Treatment
- BRCA gene mutations in cancer
- Hematopoietic Stem Cell Transplantation
- Cancer Diagnosis and Treatment
- Sarcoma Diagnosis and Treatment
- Head and Neck Cancer Studies
- Polyomavirus and related diseases
- Soft tissue tumor case studies
- Tracheal and airway disorders
- Chromosomal and Genetic Variations
- Congenital Diaphragmatic Hernia Studies
- Neuroendocrine Tumor Research Advances
- Cardiac tumors and thrombi
- Head and Neck Anomalies
- Health Promotion and Cardiovascular Prevention
- Climate Change Communication and Perception
- Genomics and Rare Diseases
- RNA Interference and Gene Delivery
- Tumors and Oncological Cases
- Blood disorders and treatments
- Bone Tumor Diagnosis and Treatments
Princess Máxima Center
2018-2025
Amsterdam UMC Location Vrije Universiteit Amsterdam
2015-2018
Vrije Universiteit Amsterdam
2012-2018
Amsterdam University Medical Centers
2018
University Medical Center Utrecht
2015-2017
Wilhelmina Children's Hospital
2015-2017
Importance To improve diagnostics of cancer predisposition syndromes (CPSs) in children with cancer, it is essential to evaluate the effect CPS gene sequencing among all and compare genetic testing based on clinical selection. However, a reliable comparison difficult because recent reports phenotype-first approach large, unselected childhood cohorts are lacking. Objective describe national children’s center’s experience diagnosing CPSs before introducing routine next-generation sequencing....
Abstract DICER1 syndrome is a rare genetic disorder that predisposes to wide spectrum of tumors. Developing surveillance protocols for this challenging because uncertainty exists about the clinical efficacy surveillance, and appraisal potential benefits harms vary. In addition, there increasing evidence germline pathogenic variants are associated with lower penetrance cancer than previously assumed. To address these issues harmonize programs within Europe, Host Genome Working Group European...
Summary This article presents the haematopoietic stem cell transplantation ( SCT ) results of complete Dutch Fanconi anaemia FA patient cohort. Sixty‐eight patients have been transplanted since 1972. In total, 63 (93%) engrafted, 54 after first and 9 second . Fludarabine (FLU)‐based conditioning was associated with decreased graft failure (odds ratio 0·21, P = 0·01), early mortality (hazard 0·25, 0·01) improved 5‐year overall survival (FLU 87·8% [standard error SE 5·1%] versus non‐FLU 59·3%...
Abstract Infantile myofibromatosis (IM), which is typically diagnosed in young children, comprises a wide clinical spectrum ranging from inconspicuous solitary soft tissue nodules to multiple disseminated tumors resulting life-threatening complications. Familial IM follows an autosomal dominant mode of inheritance and linked PDGFRB germline variants. Somatic variants were also detected multifocal lesions. associated with constitutively activate kinase activity the absence its ligand....
Abstract LOH at chromosome arms 3p, 9p, 11q, and 17p are well-established oncogenetic aberrations in oral precancerous lesions promising biomarkers to monitor the development of cancer. Noninvasive screening brushed cells is a preferable method for precancer detection patients increased risk head neck squamous cell carcinoma (HNSCC), such as with Fanconi anemia. We determined prevalence samples epithelium 141 anemia 144 aged subjects, studied association between HNSCC. was present 14 (9.9%)...
Abstract Allogeneic hematopoietic cell transplantation (HCT) remains the only cure for hematologic manifestations of Fanconi anemia (FA). We performed retrospective predictor analyses HCT outcomes in FA pediatric and young adult patients transplanted between 2007 2020 across three large referral institutions. Eighty-nine patients, 70 with bone marrow failure +/− cytogenetic abnormalities, 19 MDS/AML, were included. Five-year overall survival (OS) was 83.2% event-free (EFS) 74%. Age ≥19, HLA...
Abstract BRCA2 encodes a protein with fundamental role in homologous recombination that is essential for normal development. Carrier status of mutations associated familial breast and ovarian cancer, while bi-allelic can cause Fanconi anemia (FA), cancer predisposition syndrome cellular cross-linker hypersensitivity. Cancers acquire chemo-resistance on relapse. We modeled acquired resistance an FA-derived BRCA2- mutated acute myeloid leukemia (AML) platform. Associated was the expression...
Fanconi anemia is a hereditary chromosomal instability disorder. Hearing loss and ear abnormalities are among the many manifestations reported in this In addition, patients often complain about hearing difficulties situations with background noise (speech perception difficulties). Our study aimed to describe prevalence of speech Dutch patients.Retrospective chart review.A retrospective review was conducted at tertiary care center. All clinical follow-up our hospital were included. Medical...
Distinguishing congenital pulmonary airway malformations (CPAMs) from pleuropulmonary blastoma (PPB) can be challenging. Previously diagnosed patients with CPAM may have been misdiagnosed and we missed DICER1-associated PPBs, a diagnosis important clinical implications for their families. To gain insight in potential misdiagnoses, systematically assessed somatic DICER1 gene mutation status an unselected, retrospective cohort of diagnosis.
Abstract Small cell osteosarcoma (SCOS), a variant of conventional high-grade (COS), may mimic fusion-driven round sarcomas (FDRCS) by overlapping clinico-radiological and histomorphological/immunohistochemical characteristics, hampering accurate diagnosis consequently proper therapy. We retrospectively analyzed decalcified formalin-fixed paraffin-embedded (FFPE) samples 18 bone tumors primarily diagnosed as SCOS methylation profiling, fusion gene analysis, immunohistochemistry. In eight...
Case presentationAn 11-year-old girl, recently diagnosed with acute myeloid leukemia, was treated according to the NOPHO DBH AML 2012 protocol [1].After third chemotherapy course, consisting of cytarabine, mitoxantrone, and intrathecal methotrexate, she admitted Department Pediatric Oncology because septic shock during febrile neutropenia.She meropenem vancomycin blood cultures were positive for Streptococcus mitis.Because persistent fever, central venous catheter removed.Nevertheless, fever...
<div>Abstract<p>LOH at chromosome arms 3p, 9p, 11q, and 17p are well-established oncogenetic aberrations in oral precancerous lesions promising biomarkers to monitor the development of cancer. Noninvasive LOH screening brushed cells is a preferable method for precancer detection patients increased risk head neck squamous cell carcinoma (HNSCC), such as with Fanconi anemia. We determined prevalence samples epithelium 141 anemia 144 aged subjects, studied association between HNSCC....
<p>Figure S3. Visible lesions in non-transplanted FA patients. were found 27 of 110 patients (25%) with follow-up. Five visible (4 LOH, 1 without LOH) developed HNSCC.</p>
<p>Figure S2. Picture of a FA patient (F06-84) with squamous cell carcinoma the gingiva LOH at chromosome arm 9p in brush C was detected first F06-84.</p>