Challenges in the interpretation of a germline <i>TERT</i> variant in a patient with juvenile myelomonocytic leukemia-Reference-Cited by-同舟云学术

Challenges in the interpretation of a germline TERT variant in a patient with juvenile myelomonocytic leukemia

Published:2022-08-04 Issue:10 Volume:69 Page:
ISSN:1545-5009
Container-title:Pediatric Blood & Cancer
language:en
Short-container-title:Pediatric Blood & Cancer

Author:

Janczar Szymon¹^ORCID,Kirschner Martin²³,Beier Fabian²³,Brümmendorf Tim H.²³,Ussowicz Marek⁴^ORCID,Babol‐Pokora Katarzyna¹,Oszer Aleksandra¹,Yoshimi Ayami⁵,Kalwak Krzysztof⁴,Mlynarski Wojciech¹

Affiliation:

1. Department of Pediatrics, Oncology and Haematology Medical University of Lodz Lodz Poland

2. Department of Hematology, Oncology, Hemostaseology and Stem Cell Transplantation RWTH Aachen University Aachen Germany

3. Center for Integrated Oncology Aachen Bonn Cologne Düsseldorf (CIO ABCD) Aachen Germany

4. Department of Paediatric Bone Marrow Transplantation, Oncology and Hematology Wroclaw Medical University Wrocław Poland

5. Division of Pediatric Hematology and Oncology, Medical Center, Faculty of Medicine Department of Pediatrics and Adolescent Medicine, University of Freiburg Freiburg Germany

Publisher

Wiley

Subject

Oncology,Hematology,Pediatrics, Perinatology and Child Health

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/pbc.29909

Reference14 articles.

1. Treatment of telomeropathies

2. TERT and TERC mutations detected in cryptic dyskeratosis congenita suppress telomerase activity

3. Mutations inTERT,the Gene for Telomerase Reverse Transcriptase, in Aplastic Anemia

4. Reduced-intensity conditioning for alternative donor hematopoietic stem cell transplantation in patients with dyskeratosis congenita

5. Clinical and genetic features of dyskeratosis congenita, cryptic dyskeratosis congenita, and Hoyeraal-Hreidarsson syndrome in Japan