Advances in germline predisposition to acute leukaemias and myeloid neoplasms

JM Klco, CG Mullighan - Nature Reviews Cancer, 2021 - nature.com
Although much work has focused on the elucidation of somatic alterations that drive the
development of acute leukaemias and other haematopoietic diseases, it has become …

[HTML][HTML] Current treatment of juvenile myelomonocytic leukemia

C Mayerhofer, CM Niemeyer, C Flotho - Journal of Clinical Medicine, 2021 - mdpi.com
Juvenile myelomonocytic leukemia (JMML) is a rare pediatric leukemia characterized by
mutations in five canonical RAS pathway genes. The diagnosis is made by typical clinical …

Juvenile myelomonocytic leukemia in the molecular era: a clinician's guide to diagnosis, risk stratification, and treatment

A Wintering, CC Dvorak, E Stieglitz, ML Loh - Blood advances, 2021 - ashpublications.org
Juvenile myelomonocytic leukemia is an overlapping myeloproliferative and
myelodysplastic disorder of early childhood. It is associated with a spectrum of diverse …

CBL mutations drive PI3K/AKT signaling via increased interaction with LYN and PIK3R1

R Belizaire, SHJ Koochaki, ND Udeshi… - Blood, The Journal …, 2021 - ashpublications.org
Casitas B-lineage lymphoma (CBL) encodes an E3 ubiquitin ligase and signaling adaptor
that regulates receptor and nonreceptor tyrosine kinases. Recurrent CBL mutations occur in …

[HTML][HTML] Chiari 1 malformation and exome sequencing in 51 trios: the emerging role of rare missense variants in chromatin-remodeling genes

A Provenzano, A La Barbera, M Scagnet, A Pagliazzi… - Human genetics, 2021 - Springer
Abstract Type 1 Chiari malformation (C1M) is characterized by cerebellar tonsillar herniation
of 3–5 mm or more, the frequency of which is presumably much higher than one in 1000 …

Genetic complexity of chronic myelomonocytic leukemia

AB Patel, MW Deininger - Leukemia & Lymphoma, 2021 - Taylor & Francis
In recent years CMML has received increased attention as the most commonly observed
MDS/MPN overlap syndrome. Renewed interest has occurred in part due to widespread …

Characteristics of RAS pathway mutations in juvenile myelomonocytic leukaemia: a single‐institution study from Korea

HS Kim, JW Lee, D Kang, H Yu, Y Kim… - British Journal of …, 2021 - Wiley Online Library
Juvenile myelomonocytic leukaemia (JMML), a rare clonal haematopoietic disorder of
childhood, is characterised as a myelodysplastic/myeloproliferative neoplasm. Despite …

[HTML][HTML] Molecular pathogenesis in myeloid neoplasms with germline predisposition

J Gao, Y Chen, M Sukhanova - Life, 2021 - mdpi.com
Myeloid neoplasms with germline predisposition have recently been added as distinct
provisional entities in the 2017 revision of the World Health Organization's classification of …

Juvenile myelomonocytic leukemia in CBL syndrome associated with germline splice‐site mutations: Two case reports and a literature review

L Cardoso, V Galán‐Gómez… - Clinical Case …, 2021 - Wiley Online Library
The clinical and laboratory criteria for hemophagocytic lymphohistiocytosis should be taken
into account during the juvenile myelomonocytic leukemia diagnosis, specifically in CBL …

KMT2A-CBL rearrangements in acute leukemias: clinical characteristics and genetic breakpoints

A Bataller, F Guijarro, A Caye-Eude, M Strullu… - Blood …, 2021 - ashpublications.org
KMT2A (MLL) abnormalities are common in leukemias of various lineages. Specifically,
KMT2A chromosomal rearrangements are present in about 5% to 15% of all adolescents …