These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


Pubmed for Handhelds

PUBMED FOR HANDHELDS

Search MEDLINE/PubMed

  • Title: Challenges in the interpretation of a germline TERT variant in a patient with juvenile myelomonocytic leukemia.
    Author: Janczar S, Kirschner M, Beier F, Brümmendorf TH, Ussowicz M, Babol-Pokora K, Oszer A, Yoshimi A, Kalwak K, Mlynarski W.
    Journal: Pediatr Blood Cancer; 2022 Oct; 69(10):e29909. PubMed ID: 35927969.
    Abstract:
    Dyskeratosis congenita (DC) is a bone marrow failure syndrome with extrahematopoietic abnormalities. DC is a paradigmatic telomere biology disorder (TBD) caused by germline mutations in genes responsible for telomere maintenance including TERT. Cryptic TBD is a bone marrow failure syndrome due to premature telomere shortening but without additional symptoms, frequently clinically indistinguishable from severe aplastic anemia (SAA) or hypoplastic myelodysplastic syndrome. We present the complex diagnostic pathway in a boy with a rare germline p.Thr726Met TERT variant with previous reports of SAA association and compromised enzymatic function who presented with juvenile myelomonocytic leukemia, which is a rare myelodysplastic/myeloproliferative neoplasm of childhood.
    [Abstract] [Full Text] [Related] [New Search]