Lineage switch from pro-B acute lymphoid leukemia to acute myeloid leukemia in a case with t(12;17)(p13;q11)/<i>TAF15–ZNF384</i>rearrangement

Grammatico, Sara; Vitale, Antonella; Starza, Roberta La; Gorello, Paolo; Angelosanto, Noemi; Negulici, Alina Delia; Propris, Maria Stefania De; Nanni, Mauro; Meloni, Giovanna; Mecucci, Cristina; Foà, Robin

doi:10.3109/10428194.2012.753450

Cited by 28 publications

(28 citation statements)

References 10 publications

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“…Three fusion genes were reported previously. 9,10,[12][13][14][15][19][20][21][22] In addition, we identified a …”

Section: Detection Of the Fusion Genes Involving Znf384 In Pediatric mentioning

confidence: 90%

“…[9][10][11][12][13][14][15][19][20][21][22] Considering the current condition, whereby the frequency of B-others in which specific cytogenetic abnormalities are not present are markedly decreasing, the incidence of ZNF384 -related fusion genes in our cohort was unexpectedly high. In the literature, 8 ALL patients with TAF15-ZNF384 have been reported.…”

Section: Discussionmentioning

confidence: 99%

“…In the literature, 8 ALL patients with TAF15-ZNF384 have been reported. 9,[19][20][21] Similarly, 2 and 3 ALL patients with EWSR1-and TCF3-ZNF384, respectively, have also been described previously. [9][10][20][21][22] Because 6 out of 13 patients in the literature are adults (>21 years), this is the first report on the high frequency of the recurrence of ZNF384-related fusion genes in childhood BCP-ALL in a single nation.…”

Section: Discussionmentioning

confidence: 99%

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ZNF384 -related fusion genes define a subgroup of childhood B-cell precursor acute lymphoblastic leukemia with a characteristic immunotype

et al. 2016

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F usion genes involving ZNF384 have recently been identified in Bcell precursor acute lymphoblastic leukemia, and 7 fusion partners have been reported. We further characterized this type of fusion gene by whole transcriptome sequencing and/or polymerase chain reaction. In addition to previously reported genes, we identified BMP2K as a novel fusion partner for ZNF384. Including the EP300-ZNF384 that we reported recently, the total frequency of ZNF384-related fusion genes was 4.1% in 291 B-cell precursor acute lymphoblastic leukemia patients enrolled in a single clinical trial, and TCF3-ZNF384 was the most recurrent, with a frequency of 2.4%. The characteristic

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“…Three fusion genes were reported previously. 9,10,[12][13][14][15][19][20][21][22] In addition, we identified a …”

Section: Detection Of the Fusion Genes Involving Znf384 In Pediatric mentioning

confidence: 90%

Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

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ZNF384 -related fusion genes define a subgroup of childhood B-cell precursor acute lymphoblastic leukemia with a characteristic immunotype

et al. 2016

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“…[12][13][14][15][16] In a recent case report, a pro-B/B-I ALL, which switched to an AML at relapse, was described. 17 Case 285 is the first case with this translocation in which the WHO criteria for MPAL are fulfilled. Another chromosomal abnormality hitherto not described in MPAL, inv(3)(q21q26.2), was detected in case 283.…”

Section: Mpal B/myeloidmentioning

confidence: 98%

Acute Leukemias of Ambiguous Origin

Porwit

Béné

2015

American Journal of Clinical Pathology

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“…Among these 6 lineage switch cases, 5 cases were a conversion from ALL to AML, and 1 case was the reverse. In addition to its rare evidence, the reports [84,[86][87][88][89][90][91][92][93][94][95][96][97] also showed that the disease had a very poor prognosis with no standard treatment (most cases were resistant to chemotherapy at relapse). Conversion from ALL to AML forms the majority of cases and predominantly occurred in children.…”

Section: Study Casesmentioning

confidence: 99%

Control of Lineage Commitment in Acute Leukaemia

et al. 2016

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Acute leukaemia with the t(4;11) translocation is strongly associated with pro B-acute lymphoblastic phenotype. Here is described a lineage switch from acute lymphoblastic leukaemia (ALL) to acute myeloid leukaemia (AML) which carries identical t(4;11) breakpoints that provides insight into regulation of lineage commitment and the haematopoietic origin of leukaemia. Stable DNA microsatellite sequences argue against a therapy-related AML. Genome sequencing and RNAseq identified 12 novel and deleterious mutations unique to the AML. Immunoglobulin rearrangement analysis suggested the common cell of origin lied within a population prior to B cell differentiation. Sorting of haematopoietic stem/progenitor cell populations followed by multiplex PCR and next generation sequencing for the fusion and secondary mutations demonstrated the occurrence of the leukaemogenic MLL-AF4 fusion gene in cell populations as early as the multipotent progenitor, MPP, population in both ALL and AML. In this most primitive population, the AML carries mutations in chromatin modulating genes CHD4 and PHF3, suggesting their importance in lineage commitment. Knockdown CHD4 and PHF3 individually and in combination in the pro-B ALL t(4;11) SEM cell line resulted in ~3 fold higher expression of the myeloid cell surface marker CD33. Further analysis was performed using a recently described model of MLL-AF4 leukaemogenesis consisting of CD34+ cord blood cells transduced with a chimeric MLL-Af4 fusion gene. Knockdown of CHD4 and PHF3 resulted in loss of lymphoid differentiation potential in vitro.Analysis of different PHF3 splice variants revealed that only mutation-carrying PHF3 variants increased CD33 on SEM cells and that a balance between PHF3 variants was required for the lineage fidelity.This study suggests that the ALL and AML share a common primitive cell of origin and that mutations in CHD4 and PHF3 shift the lymphoid phenotype towards a myeloid lineage leukaemia.ii iii Acknowledgment I would like to express my biggest thanks to my supervisor Olaf Heidenreich for his continuous teaching, ideas, patience, massive support and care, which not just limited to the project. To make it shorter, his guidance is much more prominent than an excellent supervisor.Thanks to Melanie, who was not only helping me a lot in the lab, but was also correcting my English in this thesis.Also thanks to Natalia for providing many valuables ideas in this project, in particular, the multiplex PCR candidate genes on the haematopoietic hierarchy and PHF3 isoforms. I am sure these are highly essential points in this study, and at least these parts are not from Olaf's geniusness, but hers.

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Lineage switch from pro-B acute lymphoid leukemia to acute myeloid leukemia in a case with t(12;17)(p13;q11)/TAF15–ZNF384rearrangement

Cited by 28 publications

References 10 publications

ZNF384 -related fusion genes define a subgroup of childhood B-cell precursor acute lymphoblastic leukemia with a characteristic immunotype

ZNF384 -related fusion genes define a subgroup of childhood B-cell precursor acute lymphoblastic leukemia with a characteristic immunotype

Acute Leukemias of Ambiguous Origin

Control of Lineage Commitment in Acute Leukaemia

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