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

alexandrossfakianakis shared this article with you from Inoreader Challenges in the interpretation of a germline TERT variant in a patient with juvenile myelomonocytic leukemia via Pediatric Blood & Cancer 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. View on Web

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Angiotensin II-induced miR-31-5p upregulation promotes vascular smooth muscle cell proliferation and migration

alexandrossfakianakis shared this article with you from Inoreader Angiotensin II-induced miR-31-5p upregulation promotes vascular smooth muscle cell proliferation and migration via ScienceDirect Publication: Experimental Cell Research Publication date: Available online 5 August 2022 Source: Experimental Cell Research Author(s): Bing Zhou, Nan Wu, Yuan Yan, Lu-Lu Wu, Guo-Qing Zhu, Xiao-Qing Xiong View on Web

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