SET-NUP214 is a recurrent γδ lineage-specific fusion transcript associated with corticosteroid/chemotherapy resistance in adult T-ALL

Abdelali, Raouf Ben; Roggy, Anne; Leguay, Thibaut; Cieślak, Agata; Renneville, Aline; Touzart, Aurore; Banos, Anne; Randriamalala, Edouard; Caillot, Denis; Lioure, Bruno; Devidas, Alain; Mossafa, Hossein; Preudhomme, Claude; Ifrah, Norbert; Dombret, Hervé; Macintyre, Elizabeth; Asnafi, Vahid

doi:10.1182/blood-2013-08-521518

Cited by 39 publications

(61 citation statements)

References 23 publications

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“…SET-NUP214 was first detected in a patient with acute undifferentiated leukemia (AUL) (1), and later detected in two patients with acute myeloid leukemia (AML) (2,5). Recent increasing evidence supports an association between SET-NUP214 and pediatric and adult T-cell acute lymphoblastic leukemia (T-ALL) with a frequency of ~3.3-10.3% (3,4,(6)(7)(8)(9)(10)(11)(12). Gorello et al (4) reported an estimated incidence of SET-NUP214 in adult T-ALL patients of 4.6% (7/152 cases) (4).…”

Section: Introductionmentioning

confidence: 99%

“…Gorello et al (4) reported an estimated incidence of SET-NUP214 in adult T-ALL patients of 4.6% (7/152 cases) (4). The current typical treatment for T-ALL patients with SET-NUP214 is allogeneic hematopoietic stem cell transplantation (allo-HSCT), as chemotherapy resistance is common (12). The 3-year overall survival (OS) rate was reported to be 73% in 9 patients who received allo-HSCT (12).…”

Section: Introductionmentioning

confidence: 99%

“…The 3-year overall survival (OS) rate was reported to be 73% in 9 patients who received allo-HSCT (12). In addition, compared with SET-NUP214-negative patients, SET-NUP214-positive patients demonstrated a significantly increased rate of corticosteroid and chemotherapy resistance; however, this was not observed to negatively influence clinical outcome following allogeneic transplantation (12). However, there is not sufficient information on the clinical characteristics and treatment outcomes of patients carrying the SET-NUP214 fusion gene (1)(2)(3)(4)(5)(6)(7)(8)(9)(10)(11)(12).…”

Section: Introductionmentioning

confidence: 99%

“…Cryptic t(9;9)(q34;q34) and del(9)(q34.11q34.13) are rare genetic abnormalities that lead to the formation of the SET nuclear proto-oncogene (SET)-nucleoporin (NUP)214 fusion gene, which is a marker of acute leukemia (1)(2)(3)(4)(5)(6)(7)(8)(9)(10)(11)(12). SET-NUP214 was first detected in a patient with acute undifferentiated leukemia (AUL) (1), and later detected in two patients with acute myeloid leukemia (AML) (2,5).…”

Section: Introductionmentioning

confidence: 99%

“…The current typical treatment for T-ALL patients with SET-NUP214 is allogeneic hematopoietic stem cell transplantation (allo-HSCT), as chemotherapy resistance is common (12). The 3-year overall survival (OS) rate was reported to be 73% in 9 patients who received allo-HSCT (12). In addition, compared with SET-NUP214-negative patients, SET-NUP214-positive patients demonstrated a significantly increased rate of corticosteroid and chemotherapy resistance; however, this was not observed to negatively influence clinical outcome following allogeneic transplantation (12).…”

Section: Introductionmentioning

confidence: 99%

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B-cell acute lymphoblastic leukemia associated with SET-NUP214 rearrangement: A case report and review of the literature

et al. 2016

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Abstract. The SET nuclear proto-oncogene (SET)-nucleoporin (NUP)214 fusion gene, which results from cryptic t(9;9)(q34;q34) or del(9)(q34.11q34.13), is a rare genetic event in hematological malignancies. The majority of patients carrying SET-NUP214 experience T-cell acute lymphoblastic leukemia (T-ALL), but rarely experience acute undifferentiated leukemia or acute myeloid leukemia. The current study presents the case of a 19-year-old male patient with B-cell ALL (B-ALL) carrying the SET-NUP214 fusion gene, in addition to an fms-related tyrosine kinase 3-internal tandem duplication mutation and a complex karyotype abnormality. The patient exhibited chemotherapy resistance. To the best of our knowledge, the present study is the first report of a case of B-ALL carrying the SET-NUP214 fusion gene, and provides a review of the literature. IntroductionRecurrent genetic abnormalities are diagnostic and prognostic markers that enable the classification of acute leukemia into distinct categories and aid the selection of treatment (1-3). Cryptic t(9;9)(q34;q34) and del(9)(q34.11q34.13) are rare genetic abnormalities that lead to the formation of the SET nuclear proto-oncogene (SET)-nucleoporin (NUP)214 fusion gene, which is a marker of acute leukemia (1-12). SET-NUP214 was first detected in a patient with acute undifferentiated leukemia (AUL) (1), and later detected in two patients with acute myeloid leukemia (AML) (2,5). Recent increasing evidence supports an association between SET-NUP214 and pediatric and adult T-cell acute lymphoblastic leukemia (T-ALL) with a frequency of ~3.3-10.3% (3,4,6-12). Gorello et al (4) reported an estimated incidence of SET-NUP214 in adult T-ALL patients of 4.6% (7/152 cases) (4). The current typical treatment for T-ALL patients with SET-NUP214 is allogeneic hematopoietic stem cell transplantation (allo-HSCT), as chemotherapy resistance is common (12). The 3-year overall survival (OS) rate was reported to be 73% in 9 patients who received allo-HSCT (12). In addition, compared with SET-NUP214-negative patients, SET-NUP214-positive patients demonstrated a significantly increased rate of corticosteroid and chemotherapy resistance; however, this was not observed to negatively influence clinical outcome following allogeneic transplantation (12). However, there is not sufficient information on the clinical characteristics and treatment outcomes of patients carrying the SET-NUP214 fusion gene (1-12). Furthermore, to the best of our knowledge, no case of B-cell ALL (B-ALL) carrying the SET-NUP214 fusion gene has been reported thus far.In the present study, the first case of B-ALL carrying the SET-NUP214 fusion gene is reported, and the literature regarding patients with SET-NUP214 is reviewed in order to provide a comprehensive profile of this rearrangement. Case reportOn August 14, 2014, a 19-year-old man was referred to the Peking University People's Hospital (Beijing, China) with complaints of recurrent fever, fatigue, dizziness and paleness during the previous month. Clinical examination revea...

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Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

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B-cell acute lymphoblastic leukemia associated with SET-NUP214 rearrangement: A case report and review of the literature

et al. 2016

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Blast phase of chronic myeloid leukemia with concurrent BCR::ABL1 and SET::NUP214: A report of two cases

Chen

Wang

et al. 2022

Molecular Carcinogenesis

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Chronic myeloid leukemia (CML) is a myeloproliferative neoplasm defined by the presence of t(9;22)(q34;q11.2)/BCR::ABL1. Additional chromosomal abnormalities play an important role in the progression to CML. However, the additional fusion gene was rarely reported such as CBFB::MYH11. In this report, we described two cases of the co-occurrence of BCR::ABL1 and SET::NUP214 in CML-BP for the first time, which is associated with poor outcomes during tyrosine kinase inhibitor (TKI) treatment. Meanwhile, we retrospectively analyzed SET::NUP214 fusion transcript of the two cases at initial diagnosis of the CML chronic phase by quantitative RT-PCR, and detected at a ratio of 1.63% and 1.50%, respectively. SET::NUP214 may promote disease progression during the transformation of CML. This study highlights the importance of extended molecular testing at the initial diagnosis of CML-CP at TKI resistance and/or disease transformation.

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On the Effects of Leukemogenic Nucleoporin Fusion Proteins on Nucleocytoplasmic Transport and Gene Expression

Martins

Mendes

Fahrenkrog

2018

Nucleic Acids and Molecular Biology

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SET-NUP214 is a recurrent γδ lineage-specific fusion transcript associated with corticosteroid/chemotherapy resistance in adult T-ALL

Abstract: Key Points SET-NUP214 is a recurrent (6%) γδ lineage-specific fusion transcript in adult T-ALL. SET-NUP214 is strongly associated with corticosteroid and chemotherapy resistance but does not negatively influence clinical outcome.

Cited by 39 publications

References 23 publications

B-cell acute lymphoblastic leukemia associated with SET-NUP214 rearrangement: A case report and review of the literature

B-cell acute lymphoblastic leukemia associated with SET-NUP214 rearrangement: A case report and review of the literature

Blast phase of chronic myeloid leukemia with concurrent BCR::ABL1 and SET::NUP214: A report of two cases

On the Effects of Leukemogenic Nucleoporin Fusion Proteins on Nucleocytoplasmic Transport and Gene Expression

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