A translocation t(2;8)(q12;p11) fuses FGFR1 to a novel partner gene, RANBP2/NUP358, in a myeloproliferative/myelodysplastic neoplasm

Gervais, Carine; Dano, Laurent; Perrusson, N; Hélias, Catherine; Jeandidier, Éric; Ac, Galoisy; Ittel, Antoine; Herbrecht, Raoul; Bilger, Karin; Mauvieux, Laurent

doi:10.1038/leu.2012.286

Cited by 30 publications

(24 citation statements)

References 14 publications

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“…In particular, R ANBP2-ALK fusion has been reported in several cases of neoplasms such as inflammatory myofibroblastic tumor [74], where RANBP2-ALK fusion was associated with poor prognosis and a better response to the ALK inhibitor crizotinib [75], and in subtypes of AML [76,77]. Consistently, RANBP2 was found as a novel fusion partner gene for FGFR1, confirming the relevance of RANBP2 in myeloid neoplasms [78]. RANBP2 fusion chimeras may thus be useful in the identification of these rare malignancies and to set out better clinical approaches.…”

Section: • • E3 Enzymessupporting

confidence: 53%

“…Colon Diagnosis, prognosis [61] Gastric Diagnosis, prognosis, therapeutic predictivity [62,63] Prostate Diagnosis [64] Breast Prognosis [44] PIAS3 Lung, breast, prostate, colorectal, brain Diagnosis [65,66] Ovarian, endometrial Diagnosis [67] Squamous cell carcinoma of the lung Diagnosis [68] Gastric Diagnosis, prognosis [69] PIAS4 Gastric Therapeutic predictivity [63] Breast Prognosis [70] MDS Diagnosis, progression [71] RanBP2 Multiple myeloma Diagnosis [72] Small cell lung cancer Diagnosis [73] Inflammatory myofibroblastic tumor Diagnosis, prognosis, therapeutic predictivity, risk assessment [74,75] Acute myelomonocytic leukemia Diagnosis, risk assessment [76,77] 8p11 myeloproliferative syndrome Diagnosis, risk assessment [78] Pc2 Hepatocellular carcinoma Prognosis [79] TRIM19 AML Diagnosis [80] TRIM27 Endometrial Prognosis [81] Colon Prognosis [82] Ovarian Prognosis, therapeutic predictivity [83] SENP1 Prostate Diagnosis, prognosis, therapeutic predictivity [84][85][86] Pancreatic ductal adenocarcinoma Diagnosis, prognosis [87] SENP2 Bladder Diagnosis [88] Hepatocellular carcinoma Diagnosis [89] SENP3 Colon, rectum, ovarian, lung, oral squamous cell carcinoma Diagnosis [90,91] …”

Section: Pias1mentioning

confidence: 99%

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SUMO pathway components as possible cancer biomarkers

Mattoscio

Chiocca

2015

Future Oncol.

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SUMOylation is a key post-translational modification that regulates crucial cellular functions and pathological processes. Recently, Small Ubiquitin-related MOdifier (SUMO) modification has emerged as a fundamental route that may drive different steps of human tumorigenesis. Indeed, alteration in expression or activity of one of the different SUMO pathway components may completely subvert cellular properties through fine-tuning modulation of protein(s) involved in carcinogenic pathways, leading to altered cell proliferation, apoptosis resistance and metastatic potential. Here we describe some of the most interesting findings pointing to a clear link between SUMO pathway and human malignancies. Importantly, a putative role for SUMO enzymes to predict cancer behavior can be speculated, and thus the possible application of alterations in SUMO pathway components as tumor biomarkers is discussed.

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Section: • • E3 Enzymessupporting

confidence: 53%

Section: Pias1mentioning

confidence: 99%

SUMO pathway components as possible cancer biomarkers

Mattoscio

Chiocca

2015

Future Oncol.

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“…FGFR1 encodes a transmembrane receptor tyrosine kinase which activates multiple cytoplasmic signaling pathways, including those involving Ras/MAPK, PI3K, PLC7, and STAT proteins [9]. These pathways are constitutively activated by the products of rearranged genes, in which the tyrosine kinase domain of FGFR1 is fused downstream to sequences derived from 1 of at least 13 different genes, resulting in cell proliferation, causing the generation of myeloproliferative neoplasms [6].…”

Section: Discussionmentioning

confidence: 99%

“…cated at 13q12, 9q33, 6q27, and 22q11, respectively [6]. FGFR1 encodes a transmembrane receptor tyrosine kinase.…”

mentioning

confidence: 99%

Precursor T-Lymphoblastic Lymphoma Associated with t(8;9)(p11.2;q33): A Case Report and Review of the Literature

Liu¹,

Hu²,

Lu³

et al. 2018

Acta Haematol

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The 8p11 myeloproliferative syndrome (EMS) is an aggressive neoplasm associated with chromosomal translocations involving the fibroblast growth factor receptor 1 (FGFR1) tyrosine kinase gene on chromosome 8p11-12. A new case of a 9-year-old boy with leukocytosis, eosinophilia, and general lymphadenopathy is reported in this study. Bone marrow examination showed eosinophilic hyperplasia, with blast cells amounting to 6-7%. Karyotyping revealed cytogenetic abnormalities, including t(8;9)(p11.2;q3?3). Fluorescence in situ hybridization for the FGFR1 gene rearrangement yielded positive results. Lymph node biopsy confirmed the diagnosis of precursor T-lymphoblastic lymphoma. The patient responded to chemotherapy, and unmatched related bone marrow transplantation was performed. A successful outcome was obtained with complete cytogenetic remission maintained for 14 months to date. In the future, FGFR1 inhibitors might be specific and effective therapeutic targets for EMS. Similar cases from the literature are reviewed.

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“…These are ALK in inflammatory myofibroblastic tumor (Li et al, 2013;Ma et al, 2003), diffuse large B-cell lymphoma (Lee et al, 2014) and myeloid neoplasm (Lim et al, 2014;Maesako et al, 2014;Rottgers et al, 2010) and FGFR1 in myeloproliferative neoplasm (Gervais et al, 2013). In all cases, the fusion protein includes the leucine zipper portion of RANBP2 and the tyrosine kinase domain of the partner protein, leading to its activation.…”

Section: To Be Notedmentioning

confidence: 99%