Integrated genomic analysis using chromosomal microarray, fluorescence in situ hybridization and mate pair analyses: Characterization of a cryptic t(9;22)(p24.1;q11.2)/BCR-JAK2 in myeloid/lymphoid neoplasm with eosinophilia

Snider, Jessica S.; Znoyko, Iya; Lindsey, Kathryn; Morse, Jennifer; Baughn, Linda B.; Hoppman, Nicole L.; Pitel, Beth A.; Pearce, Kathryn E.; Schandl, Cynthia A.; Wolff, Daynna J.

doi:10.1016/j.cancergen.2020.08.004

Cited by 8 publications

(11 citation statements)

References 7 publications

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“…While cytogenetics usually will detect this variant there are patients who require specific probes, PCR and/or NGS. 16-19 …”

Section: Discussionmentioning

confidence: 99%

“… 8–10 They are now classified by the World Health Organization as “Myeloid/lymphoid Neoplasms with Eosinophilia and TK Fusion Genes.” 8–15 While the diagnosis can usually be made with routine cytogenetic studies, it can sometimes require specific probes, FISH, and next generation sequencing. 16-19 This is extremely important as different therapies may be indicated for different variants. For example, within this broader group of neoplasms, fusions of PDGFRA and PDGFRB with a variety of gene partners (not including JAK2 ) have been reported to respond well to imatinib.…”

Section: Introductionmentioning

confidence: 99%

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PCM1-JAK2Fusion Tyrosine Kinase Gene-Related Neoplasia: A Systematic Review of the Clinical Literature

Kaplan¹,

Jin

Scanlan

et al. 2022

The Oncologist

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Background This review summarizes the case studies of PCM1-JAK2 fusion tyrosine kinase gene-related neoplasia. Recommended treatment includes JAK2 inhibitors and hematologic stem cell transplantation (HSCT), although the small number of patients has limited study of their efficacy. Herein, we present all available cases in the current searchable literature with their demographics, diagnoses, treatments, and outcomes. Methods PubMed, ScienceDirect, Publons, the Cochrane Library, and Google were searched with the following terms: PCM1-JAK2, ruxolitinib and myeloid/lymphoid. Results Sixty-six patients (mean age = 50, 77% male) had an initial diagnosis of myeloproliferative neoplasm (MPN) in 40, acute leukemia in 21 and T-cell cutaneous lymphoma in 5. Thirty-five patients (53%) had completed 5-year follow-up. The 5-year survival for the MPN, acute myelogenous leukemia (AML), acute lymphocytic leukemia, and lymphoma groups are 62.7, 14.9%, 40.0%, and 100%, respectively. Too few patients have been treated with ruxolitinib to draw conclusions regarding its effect on survival while the 5-year survival for MPN patients with or without HSCT was 80.2% (40.3%-94.8%) versus 51.5% (22.3%-74.6%), respectively. The T-cell cutaneous lymphoma patients have all survived at least 7 years. Conclusion This rare condition may be increasingly detected with wider use of genomics. Ruxolitinib can yield hematologic and molecular remissions. However, HSCT is, at this time, the only potentially curative treatment. Useful prognostic markers are needed to determine appropriate timing for HSCT in patients with MPN. Patients presenting with acute leukemia have a poor prognosis.

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“…While cytogenetics usually will detect this variant there are patients who require specific probes, PCR and/or NGS. 16-19 …”

Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

PCM1-JAK2Fusion Tyrosine Kinase Gene-Related Neoplasia: A Systematic Review of the Clinical Literature

Kaplan¹,

Jin

Scanlan

et al. 2022

The Oncologist

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“…Antigen-activated BCRs generate secondary messengers, which are crucial in the regulation of inflammation and immune transduction signals. [43][44][45] Another study demonstrated the key role of CD22mediated BCR regulation in mediating apoptosis in cancers. [46] Moreover, complement cascade pathways are notably involved in cancers according to previous studies.…”

Section: Discussionmentioning

confidence: 99%

LINC01589 serves as a potential tumor-suppressor and immune-related biomarker in endometrial cancer: A review

Chen

Wang

et al. 2023

Medicine

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Currently, increasing attention is being paid to biomarkers in endometrial cancer. Immune infiltration of the tumor microenvironment has been shown to significantly affect the overall survival (OS) of uterine corpus endometrial carcinoma (UCEC) patients. LINC01589 is a long non-coding RNA (lncRNA) that is rarely reported in cancer and is assumed to play a role in immune regulation. We therefore evaluated the role of LINC01589 in UCEC using the Cancer Genome Atlas (TCGA) database. We analyzed the expression of LINC01589 using the gene expression profiles of LINC01589 in the UCEC projects in TCGA. Comparisons between the differentially expressed genes (DEGs) of the cancer and adjacent normal tissues of the UCEC projects revealed that LINC01589 expression was decreased in UCEC tissues. A multivariate cox regression analysis indicated that LINC01589 upregulation could serve as an independent prognostic factor for survival. Furthermore, there was a positive correlation between LINC01589 expression and B cell, T cell, NK cell, monocytic lineage, and myeloid dendritic cell infiltration in UCEC patients. In addition, 5 clusters of hub genes were detected by comparison of different expression levels of LINC01589 in the UCEC groups. The analysis of the reactome pathway using gene set enrichment analysis (GSEA) revealed immune-related pathways, including CD22-mediated B cell receptor (BCR) regulation and antigen-activated BCRs, leading to the generation of second messengers and complement cascade pathways that were significantly enriched in the high LINC01589 expression group. Thus, LINC01589 may serve as a prognostic biomarker, as it is associated with immune infiltration in UCEC.

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“…The t(8;9)(p22;p24.1) was first reported in 1990 in patients with Philadelphia chromosome (Ph)-negative neutrophilic myelofibrosis, 41 and the PCM1::JAK2 fusion resulting from this cytogenetic abnormality was described in 2005. 42 To date, approximately 100 cases of MLN associated with t(8;9)(p22;p24.1)/PCM1::JAK2 or variants have been reported as single case reports, multicentre or registry-based studies 17,[43][44][45][46][47][48][49][50] or BM workshop reports 39 (Table 2). Patients are predominantly male (M:F ratio 3:4) with a wide age range (12-82 years) and a median in the later 40s.…”

Section: P D G F R a G E N E R E A R R A N G E M E N Tmentioning

confidence: 99%

Myeloid/lymphoid neoplasms with eosinophilia and tyrosine kinase fusion genes: A workshop report with focus on novel entities and a literature review including paediatric cases

et al. 2023

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Myeloid/lymphoid neoplasms with eosinophilia (M/LN‐eo) and tyrosine kinase (TK) gene fusions are a rare group of haematopoietic neoplasms with a broad range of clinical and morphological presentations. Paediatric cases have increasingly been recognised. Importantly, not all appear as a chronic myeloid neoplasm and eosinophilia is not always present. In addition, standard cytogenetic and molecular methods may not be sufficient to diagnose M/LN‐eo due to cytogenetically cryptic aberrations. Therefore, additional evaluation with fluorescence in‐situ hybridisation and other molecular genetic techniques (array‐based comparative genomic hybridisation, RNA sequencing) are recommended for the identification of specific TK gene fusions. M/LN‐eo with JAK2 and FLT3‐rearrangements and ETV6::ABL1 fusion were recently added as a formal member to this category in the International Consensus Classification (ICC) and the 5th edition of the WHO classification (WHO‐HAEM5). In addition, other less common defined genetic alterations involving TK genes have been described. This study is an update on M/LN‐eo with TK gene fusions with focus on novel entities, as illustrated by cases submitted to the Bone Marrow Workshop, organised by the European Bone Marrow Working Group (EBMWG) within the frame of the 21st European Association for Haematopathology congress (EAHP‐SH) in Florence 2022. A literature review was performed including paediatric cases of M/LN‐eo with TK gene fusions.

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Integrated genomic analysis using chromosomal microarray, fluorescence in situ hybridization and mate pair analyses: Characterization of a cryptic t(9;22)(p24.1;q11.2)/BCR-JAK2 in myeloid/lymphoid neoplasm with eosinophilia

Cited by 8 publications

References 7 publications

PCM1-JAK2Fusion Tyrosine Kinase Gene-Related Neoplasia: A Systematic Review of the Clinical Literature

PCM1-JAK2Fusion Tyrosine Kinase Gene-Related Neoplasia: A Systematic Review of the Clinical Literature

LINC01589 serves as a potential tumor-suppressor and immune-related biomarker in endometrial cancer: A review

Myeloid/lymphoid neoplasms with eosinophilia and tyrosine kinase fusion genes: A workshop report with focus on novel entities and a literature review including paediatric cases

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