Mutations and chromosomal rearrangements of<i>JAK2</i>: not only a myeloid issue

Salmoiraghi, Silvia; Montalvo, Marie Lorena Guinea; D'Agostini, Elena; Amicarelli, Giulia; Minnucci, Giulia; Spinelli, Orietta

doi:10.1586/17474086.2013.826910

Cited by 10 publications

(13 citation statements)

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“…LAMP is performed using strand-displacement polymerase and does not require Taq DNA polymerase or thermal cycling. The potential diagnostic applications of this technology are remarkable and rapidly expanding, particularly in the field of infectious [21] and hematologic diseases [22, 23]. With this background, we show that an improved version of LAMP technology allows a rapid, simple and accurate diagnosis of APL.…”

Section: Introductionmentioning

confidence: 95%

Simple, rapid and accurate molecular diagnosis of acute promyelocytic leukemia by loop mediated amplification technology

Spinelli

Rigo²,

Zanghì

et al. 2014

Oncoscience

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The diagnostic work-up of acute promyelocytic leukemia (APL) includes the cytogenetic demonstration of the t(15;17) translocation and/or the PML-RARA chimeric transcript by RQ-PCR or RT-PCR. This latter assays provide suitable results in 3-6 hours. We describe here two new, rapid and specific assays that detect PML-RARA transcripts, based on the RT-QLAMP (Reverse Transcription-Quenching Loop-mediated Isothermal Amplification) technology in which RNA retrotranscription and cDNA amplification are carried out in a single tube with one enzyme at one temperature, in fluorescence and real time format. A single tube triplex assay detects bcr1 and bcr3 PML-RARA transcripts along with GUS housekeeping gene. A single tube duplex assay detects bcr2 and GUSB. In 73 APL cases, these assays detected in 16 minutes bcr1, bcr2 and bcr3 transcripts. All 81 non-APL samples were negative by RT-QLAMP for chimeric transcripts whereas GUSB was detectable. In 11 APL patients in which RT-PCR yielded equivocal breakpoint type results, RT-QLAMP assays unequivocally and accurately defined the breakpoint type (as confirmed by sequencing). Furthermore, RT-QLAMP could amplify two bcr2 transcripts with particularly extended PML exon 6 deletions not amplified by RQ-PCR. RT-QLAMP reproducible sensitivity is 10−3 for bcr1 and bcr3 and 10−2 for bcr2 thus making this assay particularly attractive at diagnosis and leaving RQ-PCR for the molecular monitoring of minimal residual disease during the follow up. In conclusion, PML-RARA RT-QLAMP compared to RT-PCR or RQ-PCR is a valid improvement to perform rapid, simple and accurate molecular diagnosis of APL.

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Section: Introductionmentioning

confidence: 95%

Simple, rapid and accurate molecular diagnosis of acute promyelocytic leukemia by loop mediated amplification technology

Spinelli

Rigo²,

Zanghì

et al. 2014

Oncoscience

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“…In chronic lymphocytic leukemia, STAT1 and STAT3 phosphorylation was impaired . In some prostate cancers, JAK1 expression was not detected, while in some leukemias and lymphomas, disabling mutations or chromosomal rearrangements of JAK 1 and/or JAK2 have been observed …”

Section: Jak/stat Pathwaymentioning

confidence: 99%

“…108 In some prostate cancers, JAK1 expression was not detected, 109 while in some leukemias and lymphomas, disabling mutations or chromosomal rearrangements of JAK 1 and/or JAK2 have been observed. [110][111][112][113] There is a relation between JAK/STAT pathway dysfunction and virus sensitivity. Janus kinase 1/2 inhibitors make cancer cells sensitive to VSV infection.…”

Section: Ifn Receptorsmentioning

confidence: 99%

Defects in interferon pathways as potential biomarkers of sensitivity to oncolytic viruses

Matveeva

Chumakov

2018

Reviews in Medical Virology

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Increased sensitivity of cancer cells to viruses is a prerequisite for the success of oncolytic virotherapy. One of the major causes of such a phenotype is the disruption of innate antiviral defenses associated with dysfunction of type 1 interferons (IFNs) that permits unlimited replication of viruses in cancer cells. Defects in IFN pathways help cancer progression by providing additional advantages to tumor cells. However, while these defects promote the survival and accelerated proliferation of malignant cells, they facilitate viral replication and thus enhance the efficiency of viral oncolysis. This review describes a broad spectrum of defects in genes that participate in IFN induction and IFN response pathways. Expression levels and/or functional activities of these genes are frequently low or absent in cancer cells, making them sensitive to virus infection. Therefore, certain specific defects in IFN signaling cascades might serve as potential biomarkers to help in identifying individual cancer patients who are likely to benefit from oncolytic virotherapy.

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“…In addition, PRK1 mediated phosphorylation of H3T11 may also be critical for androgen-receptor dependent transcriptional activation (Metzger et al, 2008). The canonical JAK2-STAT5 pathway is a well studied signaling cascade with critical importance for normal hematopoiesis and aberrant hyperactivation is found in many hematological malignancies (Salmoiraghi et al, 2013). Less recognized is the fact that Jak2 directly phosphorylates H3 at Tyr41 (H3Y41ph) (Dawson et al, 2009).…”

Section: Mutations In Histone Kinasesmentioning

confidence: 99%