The recombinome of IKZF1 deletions in B-cell precursor ALL

Bruno A Lopes^{1

2}, Claus Meyer³, Heloysa Bouzada⁴, Marius Külp³, Ana Luiza Tardem Maciel⁴, Patrizia Larghero³, Thayana C Barbosa⁴, Caroline P Poubel⁴, Caroline Barbieri⁴, Nicola C Venn⁵, Luciano Dalla Pozza⁶, Draga Barbaric⁷, Chiara Palmi⁸, Grazia Fazio⁸, Claudia Saitta⁸, Thais F Aguiar⁹, Mecneide M Lins¹⁰, Maura R V Ikoma-Colturato¹¹, Marcia Schramm^{12

13}, Eduardo Chapchap¹⁴, Gianni Cazzaniga^{8

15}, Rosemary Sutton⁵, Rolf Marschalek³, Mariana Emerenciano¹⁶

Affiliations

¹ Program of Molecular Carcinogenesis and Division of Clinical Research, Instituto Nacional de Câncer José Alencar Gomes da Silva (INCA), Rio de Janeiro, Brazil. blopes@inca.gov.br.
² DCAL, Institute of Pharmaceutical Biology, Goethe-University, Frankfurt/Main, Germany. blopes@inca.gov.br.
³ DCAL, Institute of Pharmaceutical Biology, Goethe-University, Frankfurt/Main, Germany.
⁴ Program of Molecular Carcinogenesis and Division of Clinical Research, Instituto Nacional de Câncer José Alencar Gomes da Silva (INCA), Rio de Janeiro, Brazil.
⁵ Molecular Diagnostics, Children's Cancer Institute, Lowy Cancer Research Centre, UNSW, Sydney, NSW, Australia.
⁶ Cancer Centre for Children, The Children's Hospital at Westmead, Sydney, NSW, Australia.
⁷ Sydney Children's Hospital, Randwick, NSW, Australia.
⁸ Tettamanti Cente, Fondazione IRCCS San Gerardo dei Tintori, Monza, Italy.
⁹ Arthur Siqueira Cavalcanti Hematology Institute (HEMORIO), Rio de Janeiro, Brazil.
¹⁰ Instituto de Medicina Integral Prof. Fernando Figueira (IMIP), Recife, Brazil.
¹¹ Hospital Amaral Carvalho, São Paulo, Brazil.
¹² Prontobaby Hospital da Criança, Rio de Janeiro, Brazil.
¹³ Serviço de Hematologia, Hospital do Câncer I, INCA, Rio de Janeiro, Brazil.
¹⁴ Hospital Israelita Albert Einstein, São Paulo, Brazil.
¹⁵ Medical Genetics, School of Medicine and Surgery, University of Milan Bicocca, Monza, Italy.
¹⁶ Program of Molecular Carcinogenesis and Division of Clinical Research, Instituto Nacional de Câncer José Alencar Gomes da Silva (INCA), Rio de Janeiro, Brazil. memerenciano@inca.gov.br.

PMID: 37386080
DOI: 10.1038/s41375-023-01935-8

The recombinome of IKZF1 deletions in B-cell precursor ALL

Bruno A Lopes et al. Leukemia. 2023 Aug.

. 2023 Aug;37(8):1727-1731.

doi: 10.1038/s41375-023-01935-8. Epub 2023 Jun 29.

Authors

Affiliations

¹ Program of Molecular Carcinogenesis and Division of Clinical Research, Instituto Nacional de Câncer José Alencar Gomes da Silva (INCA), Rio de Janeiro, Brazil. blopes@inca.gov.br.
² DCAL, Institute of Pharmaceutical Biology, Goethe-University, Frankfurt/Main, Germany. blopes@inca.gov.br.
³ DCAL, Institute of Pharmaceutical Biology, Goethe-University, Frankfurt/Main, Germany.
⁴ Program of Molecular Carcinogenesis and Division of Clinical Research, Instituto Nacional de Câncer José Alencar Gomes da Silva (INCA), Rio de Janeiro, Brazil.
⁵ Molecular Diagnostics, Children's Cancer Institute, Lowy Cancer Research Centre, UNSW, Sydney, NSW, Australia.
⁶ Cancer Centre for Children, The Children's Hospital at Westmead, Sydney, NSW, Australia.
⁷ Sydney Children's Hospital, Randwick, NSW, Australia.
⁸ Tettamanti Cente, Fondazione IRCCS San Gerardo dei Tintori, Monza, Italy.
⁹ Arthur Siqueira Cavalcanti Hematology Institute (HEMORIO), Rio de Janeiro, Brazil.
¹⁰ Instituto de Medicina Integral Prof. Fernando Figueira (IMIP), Recife, Brazil.
¹¹ Hospital Amaral Carvalho, São Paulo, Brazil.
¹² Prontobaby Hospital da Criança, Rio de Janeiro, Brazil.
¹³ Serviço de Hematologia, Hospital do Câncer I, INCA, Rio de Janeiro, Brazil.
¹⁴ Hospital Israelita Albert Einstein, São Paulo, Brazil.
¹⁵ Medical Genetics, School of Medicine and Surgery, University of Milan Bicocca, Monza, Italy.
¹⁶ Program of Molecular Carcinogenesis and Division of Clinical Research, Instituto Nacional de Câncer José Alencar Gomes da Silva (INCA), Rio de Janeiro, Brazil. memerenciano@inca.gov.br.

PMID: 37386080
DOI: 10.1038/s41375-023-01935-8

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References

1. Mullighan CG, Su X, Zhang J, Radtke I, Phillips LAA, Miller CB, et al. Deletion of IKZF1 and prognosis in acute lymphoblastic leukemia. N Engl J Med. 2009;360:470–80. - DOI - PubMed - PMC
1. Stanulla M, Cavé H, Moorman AV. IKZF1 deletions in pediatric acute lymphoblastic leukemia: still a poor prognostic marker? Blood. 2020;135:252–60. - DOI - PubMed - PMC
1. Meyer C, Zur Stadt U, Escherich G, Hofmann J, Binato R, Barbosa TC, et al. Refinement of IKZF1 recombination hotspots in pediatric BCP-ALL patients. Am J Blood Res. 2013;3:165–73. - PubMed - PMC
1. Caye A, Beldjord K, Mass-Malo K, Drunat S, Soulier J, Gandemer V, et al. Breakpoint-specific multiplex polymerase chain reaction allows the detection of IKZF1 intragenic deletions and minimal residual disease monitoring in B-cell precursor acute lymphoblastic leukemia. Haematologica. 2013;98:597–601. - DOI - PubMed - PMC
1. Boer JM, van der Veer A, Rizopoulos D, Fiocco M, Sonneveld E, de Groot-Kruseman HA, et al. Prognostic value of rare IKZF1 deletion in childhood B-cell precursor acute lymphoblastic leukemia: an international collaborative study. Leukemia. 2016;30:32–8. - DOI - PubMed

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The recombinome of IKZF1 deletions in B-cell precursor ALL

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The recombinome of IKZF1 deletions in B-cell precursor ALL

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