ArticleHuman mutation2022
Feasibility and limitations of cultured skin fibroblasts for germline genetic testing in hematologic disorders.
Article in Human mutation, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT07652580 (Toxin Exposure and Immune Dysregulation in Non-Hodgkin Lymphoma Across the Military Healthcare System), which is not on this map. Cited by 28 papers.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Toxin Exposure and Immune Dysregulation in Non-Hodgkin Lymphoma Across the Military Healthcare System
Who cites it
28 citing papers in PubMed, 36 citations in OpenAlex.
- Diagnostic yield of cancer predisposition in a nationwide prospective childhood acute leukemia cohort.Nature communications · 2026Article
- Hair bulb and oral mucosa DNA for prompt germline testing in hematologic neoplasms.Blood cancer journal · 2026Article
- Rapid germ line testing with hair root bulb-derived DNA for hereditary predisposition and inherited marrow failure states.Blood advances · 2026Article
- Review
- Clinical decisions in clonal hematopoiesis: a contemporary review for clinicians.Haematologica · 2026Review
- Mutational signatures in hematological malignancies.Einstein (Sao Paulo, Brazil) · 2026Review
- A minimally invasive lab protocol for fibroblasts isolation from 1-mm skin punch biopsies in pediatric patients.PloS one · 2026Article
- Recursive Partitioning to Differentiate Acquired From Inherited Bone Marrow Failure Syndromes.American journal of hematology · 2025Article
- Evaluation of reference sample type for somatic variant calling in myeloid cancers.Annals of hematology · 2025Observational
- Standardized Culture of Skin Fibroblasts From Punch Biopsies for Germline DNA Isolation in Myeloid Malignancies: A Practical Bedside-to-Laboratory Approach.Bio-protocol · 2025Article
- Hereditary Hematopoietic Malignancies: Considerations for Optimizing Diagnosis and Management.Current oncology reports · 2025Review
- Progress in the Genetics of Myelodysplastic Syndromes with a Latin American Perspective.Genes · 2025Review
- Myelodysplastic syndrome diagnosed by genetic testing for hereditary cancer: a case report.NPJ genomic medicine · 2025Article
- ALLTogether recommendations for biobanking samples from patients with acute lymphoblastic leukaemia: a modified Delphi study.British journal of cancer · 2025Review
- The Value of Punching It Out: Patient With Cowden Syndrome and MALT Lymphoma of the Lung.Case reports in oncological medicine · 2025Article
- Expedited evaluation of hereditary hematopoietic malignancies in the setting of stem cell transplantation.Haematologica · 2024Article
- Universal germline genetic testing in patients with hematologic malignancies using DNA isolated from nail clippings.Haematologica · 2024Article
- Modelling phenotypes, variants and pathomechanisms of syndromic diseases in different systems.Medizinische Genetik : Mitteilungsblatt des Berufsverbandes Medizinische Genetik e.V · 2024Article
- Genomic testing for germline predisposition to hematologic malignancies.Blood research · 2024Review
- Donor-Derived Malignancy and Transplantation Morbidity: Risks of Patient and Donor Genetics in Allogeneic Hematopoietic Stem Cell Transplantation.Transplantation and cellular therapy · 2024Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
17 authors at 2 institutions in 2 countries.
Funding
Abstract
To avoid acquired variants found in the blood, cultured skin fibroblasts are a recommended DNA source for germline genetic testing in patients with hematologic disorders, but data are lacking regarding practicality and limitations. We conducted a retrospective cohort study of 350 subjects with hematologic disorders who underwent skin fibroblast culture for germline genetic testing. We analyzed next-generation sequencing data from the targeted capture of 144 inherited cancer and bonemarrow failure genes to identify variants at heterozygous and subclonal variant allele frequencies. Sixteen (5%) biopsies failed to culture. Culture failure was more likely in samples with delays in culture initiation (OR = 4.3; p < 0.01) or a pathogenic variant in a telomere gene (OR = 42.6; p < 0.01). Median culture time was 28 days (IQR 22-29 days). Culture time was longer for subjects with prior allogeneic stem cell transplantation (+10.7%; p = 0.02) and shorter in subjects with a heterozygous pathogenic variant (-11.9%; p < 0.01), larger biopsy size (-10.6%; p < 0.01), or lymphoid malignancy (-8.4%; p < 0.01). Subclonal variants were identified in 10 (4%) and confirmed in five (56%) of eight with alternate samples available. Subclonal and discordant variants illustrate that germline testing from cultured skin fibroblasts requires phenotypic correlation and, in rare cases, follow-up studies for optimal interpretation.
Indexed as
Identifiers
What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.