scholarly journals Acquired trisomy 21 and distinct clonal evolution in acute megakaryoblastic leukaemia in young monozygotic twins

2002 ◽  
Vol 118 (4) ◽  
pp. 1082-1086 ◽  
Author(s):  
Batia Stark ◽  
Marta Jeison ◽  
Claude Preudhomme ◽  
Pierre Fenaux ◽  
Shifra Ash ◽  
...  
Keyword(s):  
Trisomy 21 ◽  
Clonal Evolution ◽  
Monozygotic Twins ◽  
Megakaryoblastic Leukaemia ◽  
Acute Megakaryoblastic Leukaemia

RUNX1 DNA-binding mutations and RUNX1-PRDM16 cryptic fusions in BCR-ABL+ leukemias are frequently associated with secondary trisomy 21 and may contribute to clonal evolution and imatinib resistance

Blood ◽  
2008 ◽  
Vol 111 (7) ◽  
pp. 3735-3741 ◽  
Author(s):  
Catherine Roche-Lestienne ◽  
Lauréline Deluche ◽  
Sélim Corm ◽  
Isabelle Tigaud ◽  
Sami Joha ◽  
...  
Keyword(s):  
Dna Binding ◽  
High Frequency ◽  
Trisomy 21 ◽  
De Novo ◽  
Blast Crisis ◽  
Clonal Evolution ◽  
Chronic Phase ◽  
Chromosome 21 ◽  
Imatinib Resistance ◽  
Molecular Abnormalities

Abstract Acquired molecular abnormalities (mutations or chromosomal translocations) of the RUNX1 transcription factor gene are frequent in acute myeloblastic leukemias (AMLs) and in therapy-related myelodysplastic syndromes, but rarely in acute lymphoblastic leukemias (ALLs) and chronic myelogenous leukemias (CMLs). Among 18 BCR-ABL+ leukemias presenting acquired trisomy of chromosome 21, we report a high frequency (33%) of recurrent point mutations (4 in myeloid blast crisis [BC] CML and one in chronic phase CML) within the DNA-binding region of RUNX1. We did not found any mutation in de novo BCR-ABL+ ALLs or lymphoid BC CML. Emergence of the RUNX1 mutations was detected at diagnosis or before the acquisition of trisomy 21 during disease progression. In addition, we also report a high frequency of cryptic chromosomal RUNX1 translocation to a novel recently described gene partner, PRDM16 on chromosome 1p36, for 3 (21.4%) of 14 investigated patients: 2 myeloid BC CMLs and, for the first time, 1 therapy-related BCR-ABL+ ALL. Two patients presented both RUNX1 mutations and RUNX1-PRDM16 fusion. These events are associated with a short survival and support the concept of a cooperative effect of BCR-ABL with molecular RUNX1 abnormalities on the differentiation arrest phenotype observed during progression of CML and in BCR-ABL+ ALL.

scholarly journals Tetrandrine antagonizes acute megakaryoblastic leukaemia growth by forcing autophagy-mediated differentiation

2017 ◽  
Vol 174 (23) ◽  
pp. 4308-4328 ◽  
Author(s):  
Ting Liu ◽  
Zhenxing Zhang ◽  
Chunjie Yu ◽  
Chang Zeng ◽  
Xiaoqing Xu ◽  
...  
Keyword(s):  
Megakaryoblastic Leukaemia ◽  
Acute Megakaryoblastic Leukaemia

Acute megakaryoblastic leukaemia in children

1986 ◽  
Vol 63 (3) ◽  
pp. 541-554 ◽  
Author(s):  
A. Elizabeth ◽  
L. Cairney ◽  
Robert Mckenna ◽  
Diane C. Arthur ◽  
Mark E. Nesbit ◽  
...  
Keyword(s):  
Megakaryoblastic Leukaemia ◽  
Acute Megakaryoblastic Leukaemia

Gene expression profiling of amniotic fluid mesenchymal stem cells of monozygotic twins discordant for trisomy 21

Gene ◽  
2020 ◽  
Vol 738 ◽  
pp. 144461
Author(s):  
Shu-Han You ◽  
Yun-Shien Lee ◽  
Yu-Jen Chang ◽  
Chiao-Yun Lin ◽  
Tzu-Hao Wang ◽  
...  
Keyword(s):  
Gene Expression ◽  
Stem Cells ◽  
Mesenchymal Stem Cells ◽  
Amniotic Fluid ◽  
Gene Expression Profiling ◽  
Expression Profiling ◽  
Trisomy 21 ◽  
Monozygotic Twins

scholarly journals Whole Genome and Exome Sequencing of Monozygotic Twins with Trisomy 21, Discordant for a Congenital Heart Defect and Epilepsy

PLoS ONE ◽  
2014 ◽  
Vol 9 (6) ◽  
pp. e100191 ◽  
Author(s):  
Pongsathorn Chaiyasap ◽  
Supasak Kulawonganunchai ◽  
Chalurmpon Srichomthong ◽  
Sissades Tongsima ◽  
Kanya Suphapeetiporn ◽  
...  
Keyword(s):  
Exome Sequencing ◽  
Congenital Heart Defect ◽  
Trisomy 21 ◽  
Congenital Heart ◽  
Monozygotic Twins ◽  
Whole Genome ◽  
Heart Defect

Monozygotic twins discordant for trisomy 21

1982 ◽  
Vol 11 (2) ◽  
pp. 143-146 ◽  
Author(s):  
John G. Rogers ◽  
Lucille Voullaire ◽  
Hugo Gold ◽  
John M. Opitz
Keyword(s):  
Trisomy 21 ◽  
Monozygotic Twins
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