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Literature DB >> 21370421

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

Lurdes Torres¹, Susana Lisboa, Joana Vieira, Nuno Cerveira, Joana Santos, Manuela Pinheiro, Cecília Correia, Susana Bizarro, Marta Almeida, Manuel R Teixeira.

Abstract

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).

Entities: Disease Gene

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Year: 2011 PMID： 21370421 DOI： 10.1002/pbc.22765

Source DB: PubMed Journal: Pediatr Blood Cancer ISSN： 1545-5009 Impact factor: 3.167

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Cited

7 in total

1. The landscape of somatic mutations in Down syndrome-related myeloid disorders.

Authors: Kenichi Yoshida; Tsutomu Toki; Yusuke Okuno; Rika Kanezaki; Yuichi Shiraishi; Aiko Sato-Otsubo; Masashi Sanada; Myoung-ja Park; Kiminori Terui; Hiromichi Suzuki; Ayana Kon; Yasunobu Nagata; Yusuke Sato; RuNan Wang; Norio Shiba; Kenichi Chiba; Hiroko Tanaka; Asahito Hama; Hideki Muramatsu; Daisuke Hasegawa; Kazuhiro Nakamura; Hirokazu Kanegane; Keiko Tsukamoto; Souichi Adachi; Kiyoshi Kawakami; Koji Kato; Ryosei Nishimura; Shai Izraeli; Yasuhide Hayashi; Satoru Miyano; Seiji Kojima; Etsuro Ito; Seishi Ogawa
Journal: Nat Genet Date: 2013-09-22 Impact factor: 38.330

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

1. The landscape of somatic mutations in Down syndrome-related myeloid disorders.

2. Neonatal acute megakaryoblastic leukemia mimicking congenital neuroblastoma.

3. Acute Megakaryoblastic Leukemia with t(1;22) Mimicking Neuroblastoma in an Infant.

4. A Novel Variant t(1;22) Translocation - ins(22;1)(q13;p13p31) - in a Child with Acute Megakaryoblastic Leukemia.

5. RBM15 condensates modulate m⁶A modification of STYK1 to promote tumorigenesis.

Review 6. Pediatric AML: From Biology to Clinical Management.

7. Clinical Characteristics and Prognosis of 27 Patients with Childhood Acute Megakaryoblastic Leukemia.

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

1. The landscape of somatic mutations in Down syndrome-related myeloid disorders.

2. Neonatal acute megakaryoblastic leukemia mimicking congenital neuroblastoma.

3. Acute Megakaryoblastic Leukemia with t(1;22) Mimicking Neuroblastoma in an Infant.

4. A Novel Variant t(1;22) Translocation - ins(22;1)(q13;p13p31) - in a Child with Acute Megakaryoblastic Leukemia.

5. RBM15 condensates modulate m6A modification of STYK1 to promote tumorigenesis.

Review 6. Pediatric AML: From Biology to Clinical Management.

7. Clinical Characteristics and Prognosis of 27 Patients with Childhood Acute Megakaryoblastic Leukemia.

5. RBM15 condensates modulate m⁶A modification of STYK1 to promote tumorigenesis.