Dasatinib and allogeneic stem cell transplantation enable sustained response in an elderly patient with
            <i>RCSD1-ABL1</i>
            -positive acute lymphoblastic leukemia

Frech, Miriam; Jehn, Lutz B.; Stabla, Kathleen; Mielke, Stephan; Steffen, Björn; Einsele, Hermann; Metzelder, Stephan; Neubauer, Andreas

doi:10.3324/haematol.2016.160531

Cited by 18 publications

(17 citation statements)

References 15 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…Next, to study patients’ samples in an unbiased manner, a group of four of the authors performed blinded analysis of CNV, fusion genes and mutations on eight additional AML samples and one acute lymphocytic leukemia sample (AML-21–28, ALL-1; 39 Table 1, Online Supplementary Tables S7-S9 ). Two samples were excluded before unblinding because of insufficient read coverage resulting from poor DNA quality (AML-26, -27).…”

Section: Resultsmentioning

confidence: 99%

Comprehensive genetic diagnosis of acute myeloid leukemia by next-generation sequencing

et al. 2018

Self Cite

View full text Add to dashboard Cite

Differential induction therapy of all subtypes of Acute Myeloid Leukemia other than Acute Promyelocytic Leukemia is impeded by the long time required to complete complex and diverse cytogenetic and molecular genetic analyses for risk stratification or targeted treatment decisions. Here, we describe a reliable, rapid and sensitive diagnostic approach that combines karyotyping and mutational screening in a single integrated next generation sequencing assay. Numerical karyotyping was performed by low coverage whole genome sequencing followed by copy number variation analysis using a novel algorithm based on in silico-generated reference karyotypes. Translocations and DNA variants were examined by targeted resequencing of fusion transcripts and mutational hotspot regions using commercially available kits and analysis pipelines. For the identification of FLT3 internal tandem duplications and KMT2A partial tandem duplications, we adapted previously described tools. In a validation cohort including 22 primary patient samples, 9/9 numerically normal karyotypes were classified correctly and 30/31 (97%) Copy number variations reported by classical cytogenetics and FISH analysis were uncovered by our next generation sequencing-karyotyping approach. Predesigned fusion and mutation panels were validated exemplarily on leukemia cell lines and a subset of patient samples and identified all expected genomic alterations. Finally, blinded analysis of eight additional patient samples using our comprehensive assay accurately reproduced reference results. Therefore, calculated karyotyping by low coverage whole genome sequencing allows for fast and reliable detection of numerical chromosomal changes and, in combination with panel-based fusion- and mutation screening, will greatly facilitate implementation of subtype-specific induction therapies in Acute Myeloid Leukemia.

show abstract

Section: Resultsmentioning

confidence: 99%

Comprehensive genetic diagnosis of acute myeloid leukemia by next-generation sequencing

et al. 2018

Self Cite

View full text Add to dashboard Cite

show abstract

“…Therefore, CCDC65 is speculated to impact radiosensitivity via cilium and ZEB1. The RCSD1 gene encodes the phosphoprotein CapZ-interacting protein (CapZIP), which contributes to the regulation of actin filament assembly and plays an important role in actin filament binding, which is an important biological behavior of tumors 21 . GLIPR1L1 participates in the encoding of the glioma pathogenesis-related protein (GLIPR1), a member of the CAP superfamily, and could promote the proliferation, survival, and invasion of glioma cells and inhibit apoptosis 22 , 23 .…”

Section: Discussionmentioning

confidence: 99%

A novel methylation signature predicts radiotherapy sensitivity in glioma

Feng

Shi

et al. 2020

Sci Rep

View full text Add to dashboard Cite

Glioblastoma (GBM) is the most common and malignant cancer of the central nervous system, and radiotherapy is widely applied in GBM treatment; however, the sensitivity to radiotherapy varies in different patients. To solve this clinical dilemma, a radiosensitivity prediction signature was constructed in the present study based on genomic methylation. In total, 1044 primary GBM samples with clinical and methylation microarray data were involved in this study. LASSO-COX, GSVA, Kaplan–Meier survival curve analysis, and COX regression were performed for the construction and verification of predictive models. The R programming language was used as the main tool for statistical analysis and graphical work. Via the integration analysis of methylation and the survival data of primary GBM, a novel prognostic and radiosensitivity prediction signature was constructed. This signature was found to be stable in prognosis prediction in the TCGA and CGGA databases. The possible mechanism was also explored, and it was found that this signature is closely related to DNA repair functions. Most importantly, this signature could predict whether GBM patients could benefit from radiotherapy. In summary, a radiosensitivity prediction signature for GBM patients based on five methylated probes was constructed, and presents great potential for clinical application.

show abstract

“…50,51 Similarly, imatinib, dasatinib, and ponatinib were able to induce a response in 2 adolescent patients and 1 elderly patient harboring RCSD domain containing 1 (RCSD1)/ ABL1. [52][53][54] It is interesting to note that the choice of Collette et al 52 was guided by the ex vivo drug response profiling that demonstrated the superiority of ponatinib versus dasatinib. Similarly, our group documented the in vitro efficacy of ponatinib on primary leukemic cells from patients with BCR/ABL1-like ALL, regardless of the underlying lesion.…”

Section: Therapeutic Implicationsmentioning

confidence: 99%

“…In particular, imatinib was able to induce a complete remission in patients harboring EBF1/PDGFRB fusions . Similarly, imatinib, dasatinib, and ponatinib were able to induce a response in 2 adolescent patients and 1 elderly patient harboring RCSD domain containing 1 ( RCSD1 ) /ABL1 . It is interesting to note that the choice of Collette et al was guided by the ex vivo drug response profiling that demonstrated the superiority of ponatinib versus dasatinib.…”

Section: Introductionmentioning

confidence: 99%

BCR/ABL1–like acute lymphoblastic leukemia: How to diagnose and treat?

Chiaretti

Messina

Foà

2018

Cancer

View full text Add to dashboard Cite

BCR/ABL1–like acute lymphoblastic leukemia (ALL) accounts for 15% to 30% of B‐lineage ALL, with a peak of incidence occurring in adolescence. This subgroup of patients is characterized by a peculiar transcriptional profile that resembles that of true BCR/ABL1–positive cases, and have a heterogeneous genetic background and a poor outcome. Next‐generation sequencing studies have demonstrated that the majority of patients carry rearrangements of tyrosine kinases or cytokine receptors and mutations of janus kinase (JAK)/signal transducer and activator of transcription (STAT), thus opening the way to the possible use of targeted therapeutic approaches. However, several issues remain unresolved at both the diagnostic and therapeutic level, such as the definition of a standardized method to identify BCR/ABL1–like ALL and the design of ad hoc clinical trials examining tyrosine kinase inhibitors or other tailored treatments. These aspects are discussed in this review.

show abstract

Dasatinib and allogeneic stem cell transplantation enable sustained response in an elderly patient with RCSD1-ABL1 -positive acute lymphoblastic leukemia

Cited by 18 publications

References 15 publications

Comprehensive genetic diagnosis of acute myeloid leukemia by next-generation sequencing

Comprehensive genetic diagnosis of acute myeloid leukemia by next-generation sequencing

A novel methylation signature predicts radiotherapy sensitivity in glioma

BCR/ABL1–like acute lymphoblastic leukemia: How to diagnose and treat?

Contact Info

Product

Resources

About