Familial platelet disorder due to germline exonic deletions in<i>RUNX1</i>: a diagnostic challenge with distinct alterations of the transcript isoform equilibrium-Reference-Cited by-同舟云学术

Familial platelet disorder due to germline exonic deletions inRUNX1: a diagnostic challenge with distinct alterations of the transcript isoform equilibrium

Published:2022-05-09 Issue:10 Volume:63 Page:2311-2320
ISSN:1042-8194
Container-title:Leukemia & Lymphoma
language:en
Short-container-title:Leukemia & Lymphoma

Author:

Engvall Marie¹^ORCID,Karlsson Ylva¹,Kuchinskaya Ekaterina²,Jörnegren Åsa³,Mathot Lucy¹,Pandzic Tatjana¹,Palle Josefine⁴,Ljungström Viktor¹,Cavelier Lucia¹,Hellström Lindberg Eva⁵⁶,Cammenga Jörg⁷⁸,Baliakas Panagiotis¹

Affiliation:

1. Department of Immunology, Genetics and Pathology, Science for Life Laboratory, Uppsala University, Uppsala, Sweden

2. Department of Clinical Pathology and Clinical Genetics, and Department of Clinical and Experimental Medicine, Linköping University, Linköping, Sweden

3. Department of Pediatrics, Örebro University Hospital, Örebro, Sweden

4. Department of Women’s and Children’s Health, Uppsala University, Uppsala, Sweden

5. Department of Medicine, Division of Hematology, Huddinge, Karolinska University Hospital, Stockholm, Sweden

6. Center for Hematology and Regenerative Medicine, Karolinska Institutet, Stockholm, Sweden

7. Department of Hematology, Linköping University Hospital, Linköping, Sweden

8. Department of Molecular Medicine and Virology (MMV), Division of Biomedical and Clinical Sciences (BKV), Linköping University, Linköping, Sweden

Funder

Lion’s Cancer Research Foundation, Uppsala

Publisher

Informa UK Limited

Subject

Cancer Research,Oncology,Hematology

Link

https://www.tandfonline.com/doi/pdf/10.1080/10428194.2022.2067997

Reference36 articles.

1. Clinical phenotype of germline RUNX1 haploinsufficiency: from point mutations to large genomic deletions

2. The 2016 revision to the World Health Organization classification of myeloid neoplasms and acute leukemia

3. How I curate: applying American Society of Hematology-Clinical Genome Resource Myeloid Malignancy Variant Curation Expert Panel rules for RUNX1 variant curation for germline predisposition to myeloid malignancies

4. Advances in germline predisposition to acute leukaemias and myeloid neoplasms

5. Clinical and biological implications of driver mutations in myelodysplastic syndromes

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1. Germline Predisposition in Hematologic Malignancies;Comprehensive Hematology and Stem Cell Research;2024

2. Germline and somatic drivers in inherited hematologic malignancies;Frontiers in Oncology;2023-10-13

3. The clinical phenotype of germline RUNX1 mutations in relation to the accompanying somatic variants and RUNX1 isoform expression;Genes, Chromosomes and Cancer;2023-06-12

4. An insight on the role of genetic testing of RUNX1: A key transcriptional gene in familial platelet disorder with predisposition to acute myeloid leukemia;Pediatric Hematology Oncology Journal;2023-06

5. Somatic Exonic Deletions in RUNX1 Constitutes a Novel Recurrent Genomic Abnormality in Acute Myeloid Leukemia;Clinical Cancer Research;2023-04-06