New hPSC-based human models to study pediatric Acute Megakaryoblastic Leukemia harboring the fusion oncogene RBM15-MKL1.

Pediatric Acute Megakaryoblastic Leukemia not associated to Down Syndrome (non-DS AMKL) is a rare disease with a dismal prognosis. Around 15% of patients carry the chromosomal translocation t(1;22) that originates the fusion oncogene RBM15-MKL1, which is linked to an earlier disease onset (median of 6months of age) and arises in utero. Here we report the generation of two hPSC cell lines constitutively expressing the oncogene RBM15-MKL1, resulting in an increased expression of known RBM15-MKL1 gene targets. These cell lines represent new disease models of pediatric AMKL to study the impact of the RBM15-MKL1 oncogene on human embryonic hematopoietic development.

Ayllón V ，Vogel-González M ，González-Pozas F ，Domingo-Reinés J ，Montes R ，Morales-Cacho L ，Ramos-Mejía V ... -  《-》

[Prognostic significance of chimeric fusion gene analysis in pediatric acute megakaryoblastic leukemia].

Tamefusa K ，Fukutake K ，Ishida H ，Tamura A ，Endo M ，Hamamoto K ，Koga Y ，Yamada M ，Kanamitsu K ，Fujiwara K ，Washio K ，Shimada A ... -  《-》

Acute megakaryoblastic leukaemia with t(1;22)(p13·3;q13·1)/RBM15-MKL1 in an adult patient following a non-mediastinal germ cell tumour.

Saito Y ，Makita S ，Chinen S ，Kito M ，Fujino T ，Ida H ，Hosoba R ，Tanaka T ，Fukuhara S ，Munakata W ，Suzuki T ，Maruyama D ，Miyagi-Maeshima A ，Matsushita H ，Izutsu K ... -  《-》

Detection of RBM15-MKL1 fusion was useful for diagnosis and monitoring of minimal residual disease in infant acute megakaryoblastic leukemia.

Takeda A ，Shimada A ，Hamamoto K ，Yoshino S ，Nagai T ，Fujii Y ，Yamada M ，Nakamura Y ，Watanabe T ，Watanabe Y ，Yamamoto Y ，Sakakibara K ，Oda M ，Morishima T ... -  《ACTA MEDICA OKAYAMA》

Acute megakaryoblastic leukemia with a four-way variant translocation originating the RBM15-MKL1 fusion gene.

Acute megakaryoblastic leukemia (AMKL) with t(1;22)(p13;q13) is a subset of acute myeloid leukemia (AML) representing <1% of all cases and about 70% of pediatric AMKL in the first year of life. We present a case of a 7-month-old female in whom the bone marrow karyotype showed the derivative chromosome der(22)t(1;22)(p13;q13). The RBM15-MKL1 fusion transcript was detected by RT-PCR and confirmed by sequencing analyses. FISH analyses revealed the presence of the four-way translocation t(1;22;17;18)(p13;q13;q22;q12).

Torres L ，Lisboa S ，Vieira J ，Cerveira N ，Santos J ，Pinheiro M ，Correia C ，Bizarro S ，Almeida M ，Teixeira MR ... -  《-》