AFF1

Last update 08 May 2025

Basic Info

Synonyms

AF-4, AF4, AF4/FMR2 family member 1

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Introduction-

100 Clinical Results associated with AFF1

100 Translational Medicine associated with AFF1

0 Patents (Medical) associated with AFF1

557

Literatures (Medical) associated with AFF1

01 Apr 2025·Pathology

Next-generation sequencing RNA fusion panel for the diagnosis of haematological malignancies

Article

Author: Kumar, Beena ; Fedele, Pasquale L ; Shortt, Jake ; Ngo, Trung Quang ; Leong, Emmanuel ; Gilbertson, Michael ; Dorwal, Pranav ; Shanmuganathan, Naranie ; Goh, Anna Fong Na ; Fong, Chun Yew ; Yeh, Paul

Haematological malignancies are being increasingly defined by gene rearrangements, which have traditionally been detected by karyotype, fluorescent in situ hybridisation (FISH) or reverse-transcriptase polymerase chain reaction (RT-PCR). However, these traditional methods may miss cryptic gene rearrangements and are limited by the number of gene rearrangements screened at any one time. A next-generation sequencing (NGS) RNA fusion panel is an evolving technology that can identify multiple fusion transcripts in a single molecular assay, even without prior knowledge of breakpoints or fusion partners. We explored the utility of the Illumina TruSight RNA Fusion Panel for use in haematological malignancies by sequencing 30 peripheral blood or bone marrow aspirate samples. Secondary and tertiary analyses were performed using the Illumina DRAGEN RNA pipeline and PierianDx Clinical Genomics Workspace platform. Our RNA fusion panel was able to reliably detect known fusion transcripts, such as BCR::ABL1, ETV6::RUNX1 and KMT2A::AFF1, in acute lymphoblastic leukaemia (ALL), KMT2A::MLLT3, KMT2A::MLLT6, PML::RARA and CBFB::MYH11 in acute myeloid leukaemia (AML), and FIP1L1::PDGFRA in myeloid/lymphoid neoplasm with eosinophilia (MLN-Eo). In addition, it was able to detect rare KAT6A::CREBBP and CHIC2::ETV6 fusions, which could not be confirmed by traditional methods. The assay had a transcript limit of detection of approximately 5-10% of positive controls. These findings confirm the unique utility of the NGS-based RNA fusion panel as a diagnostic tool to identify gene rearrangements that drive haematological malignancies. It can identify novel and rare gene rearrangements to assist with diagnosis, prognostication and treatment decisions.

01 Mar 2025·Anticancer Research

Cryptic Rearrangement of theKMT2AGene in a B-cell Acute Lymphoblastic Leukemia

Article

Author: Andersen, Kristin ; Brunetti, Marta ; Heim, Sverre ; Micci, Francesca ; Tjønnfjord, Geir E ; Spetalen, Signe

BACKGROUND/AIMA 30-year-old female diagnosed with B cell acute lymphoblastic leukemia (B-ALL) had a normal karyotype at diagnosis.CASE REPORTThe case was investigated further by fluorescence in situ hybridization (FISH), array comparative genomic hybridization (aCGH), and reverse-transcription polymerase chain reaction (RT-PCR) followed by Cycle sequencing. The diagnostic karyotype was normal (46,XX), but FISH studies on tumor cells using a KMT2A break-apart probes showed that the proximal part of KMT2A was inserted into an apparently normal chromosome 4 with concomitant loss of the distal part of the probe. aCGH identified losses within 11q23.3 and 4q21.3q22.1 with the breakpoints mapping inside the KMT2A and AFF1 loci. The presence of the putative KMT2A::AFF1 fusion gene was confirmed by FISH analysis and RT-PCR/Cycle sequencing; an in-frame fusion was detected between KMT2A (exon 9) and AFF1 (exon 6). The patient underwent allogenic stem cell transplantation and reached complete remission.CONCLUSIONThis case highlights the need to supplement banding cytogenetics with appropriate molecular (cyto)genetic techniques whenever the karyotype does not reveal characteristic aberrations. Although KMT2A rearrangements in both lymphoblastic and myeloid acute leukemias usually arise through karyotypically visible chromosomal recombinations, this is not always the case.

01 Feb 2025·Recent Patents on Anti-Cancer Drug Discovery

Differentiation of Acute Leukemia Cells Including Cells with MLL-AF4 Rearrangements Induced by Jiyuan Oridonin A

Article

Author: Ke, Yu ; Li, Xueming ; Wei, Liuya ; Hu, Zhenbo ; Liu, Hongmin ; Zhang, Fenglian

Background:Chromosomal rearrangements involving the Mixed lineage leukemia (MLL) gene are observed in acute leukemia (AL) patients, which have poor prognosis, especially in infants. Hence, there is still a challenge to develop other effective agents to treat AL with MLL rearrangements (MLLr). MLL has been shown to rearrange with partner genes, of which the most frequently observed are AF4 and AF9. Moreover, AL is characterized by a differentiation blockage resulting in the accumulation of immature cells. An ent-kaurene diterpenoid compound, Jiyuan Oridonin A (JOA), has been shown to reduce the viability of AML cells by differentiation.Methods:We aimed to evaluate the effect of JOA on the growth and differentiation of AL cells (SEM, JURKAT and MV4-11) including cells with MLLr-AF4 by cell proliferation assay, colony formation assay, cell cycle analysis, cell apoptosis analysis, measurement of cell surface antigens and cell morphology, mRNA-sequencing analysis, quantitative Real-time PCR and Western blotting analysis.Results:Our findings demonstrated that the proliferation of AL cells including cells with MLLr-AF4 was significantly suppressed by JOA, which induced cell differentiation followed by G0/G1 cell cycle withdrawal. Moreover, JOA-mediated cell differentiation was likely due to activation of G-CSFR in MV4-11 cells.Conclusion:Our results suggest that JOA may be considered a promising anti-leukemia compound to develop to surmount the differentiation block in AL patients

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AFF1

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