Towards precision medicine in lymphoid malignancies

Bühler, Marco; Martín‐Subero, José I.; Pan‐Hammarström, Qiang; Campo, Elı́as; Rosenquist, Richard

doi:10.1111/joim.13423

Cited by 12 publications

(5 citation statements)

References 213 publications

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“…Moreover, in the typical pediatric cancers including Wilms tumor [104][105][106], neuroblastoma [104,107,108] and pediatric hepatoblastoma [104,[109][110][111] somatic KMT2D variants only (very) infrequently occur. In contrast, in other cancers including, amongst others, pediatric-and adult diffuse large B-cell lymphoma (DLBCL) (20-35%) [11,15,112,113], adult follicular lymphoma (70-90%) [14,15], nodal marginal zone lymphoma (≈20-30%) [114][115][116], (non)small cell lung cancer/lung squamous cell carcinoma (≈20-30%) [11,65,117], upper tract urothelial carcinoma/bladder cancer (≈25-45%) [11,[118][119][120], esophageal (squamous cell) carcinoma (≈10-25%) [11,121,122] and pediatric-and adult medulloblastoma (overall ≈5-30%, large differences between individual molecular subgroups) [123][124][125] somatic KMT2D variants are (highly) recurrent but these cancers have not been reported in patients with KS (yet). However, with a lack of longitudinal studies it remains unclear whether KS patients reach the ages at which many of tumor types are most prevalent.…”

Section: Somatic Kmt2d Variants In Malignancies In Patients With Kabu...mentioning

confidence: 99%

Molecular characterization of an embryonal rhabdomyosarcoma occurring in a patient with Kabuki syndrome: report and literature review in the light of tumor predisposition syndromes

et al. 2022

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Kabuki syndrome is a well-recognized syndrome characterized by facial dysmorphism and developmental delay/intellectual disability and in the majority of patients a germline variant in KMT2D is found. As somatic KMT2D variants can be found in 5–10% of tumors a tumor predisposition in Kabuki syndrome is discussed. So far less than 20 patients with Kabuki syndrome and a concomitant malignancy have been published. Here we report on a female patient with Kabuki syndrome and a c.2558_2559delCT germline variant in KMT2D who developed an embryonal rhabdomyosarcoma (ERMS) at 10 years. On tumor tissue we performed DNA-methylation profiling and exome sequencing (ES). Copy number analyses revealed aneuploidies typical for ERMS including (partial) gains of chromosomes 2, 3, 7, 8, 12, 15, and 20 and 3 focal deletions of chromosome 11p. DNA methylation profiling mapped the case to ERMS by a DNA methylation-based sarcoma classifier. Sequencing suggested gain of the wild-type KMT2D allele in the trisomy 12. Including our patient literature review identified 18 patients with Kabuki syndrome and a malignancy. Overall, the landscape of malignancies in patients with Kabuki syndrome was reminiscent of that of the pediatric population in general. Histopathological and molecular data were only infrequently reported and no report included next generation sequencing and/or DNA-methylation profiling. Although we found no strong arguments pointing towards KS as a tumor predisposition syndrome, based on the small numbers any relation cannot be fully excluded. Further planned studies including profiling of additional tumors and long term follow-up of KS-patients into adulthood could provide further insights.

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Section: Somatic Kmt2d Variants In Malignancies In Patients With Kabu...mentioning

confidence: 99%

Molecular characterization of an embryonal rhabdomyosarcoma occurring in a patient with Kabuki syndrome: report and literature review in the light of tumor predisposition syndromes

et al. 2022

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“…‘Precision medicine’ requires detailed knowledge of the molecular profile of a patient [ 9 , 10 ]. Bulk RNA sequencing (RNA-seq) provides limited insights into the clonal composition of tumors and the TME [ 11 ]. Several obvious advantages of scRNA-seq over bulk RNA-seq data have been noted, including its ability to characterize the subtypes of cells and the frequency of cell types in each sample, its ability to identify the genes and networks that are activated within each cell or cell type, and the ability to study relationships among cells or cell types [ 12 ].…”

Section: Introductionmentioning

confidence: 99%

Advances in single-cell RNA sequencing and its applications in cancer research

Huang,

Ma,

et al. 2023

J Hematol Oncol

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Cancers are a group of heterogeneous diseases characterized by the acquisition of functional capabilities during the transition from a normal to a neoplastic state. Powerful experimental and computational tools can be applied to elucidate the mechanisms of occurrence, progression, metastasis, and drug resistance; however, challenges remain. Bulk RNA sequencing techniques only reflect the average gene expression in a sample, making it difficult to understand tumor heterogeneity and the tumor microenvironment. The emergence and development of single-cell RNA sequencing (scRNA-seq) technologies have provided opportunities to understand subtle changes in tumor biology by identifying distinct cell subpopulations, dissecting the tumor microenvironment, and characterizing cellular genomic mutations. Recently, scRNA-seq technology has been increasingly used in cancer studies to explore tumor heterogeneity and the tumor microenvironment, which has increased the understanding of tumorigenesis and evolution. This review summarizes the basic processes and development of scRNA-seq technologies and their increasing applications in cancer research and clinical practice.

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“… 4 , 6 , 8 , 9 Nevertheless, the disease heterogeneity of DLBCL cannot be fully explained by the genetic changes, both regarding the biological nature of the cancers and their response to treatment. 10 …”

Section: Introductionmentioning

confidence: 99%