NPM1, FLT3 and CEBPA mutations in pediatric patients with AML from Argentina: incidence and prognostic value
Mutations in NPM1 , FLT3 and CEBPA genes are found in 25–35 % of adult acute myeloblastic leukemia (AML) cases and correlate with prognosis. To date, there have been no reports about these mutations in pediatric AML from Argentina. The aims of the present study were to describe the incidence of NPM1...
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| Veröffentlicht in: | International journal of hematology 2016-11, Vol.104 (5), p.582-590 |
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| creator | Rubio, Patricia Campos, B. Digiorge, J. A. Gallego, M. S. Medina, A. Rossi, J. G. Felice, M. S. Alonso, C. N. |
| description | Mutations in
NPM1
,
FLT3
and
CEBPA
genes are found in 25–35 % of adult acute myeloblastic leukemia (AML) cases and correlate with prognosis. To date, there have been no reports about these mutations in pediatric AML from Argentina. The aims of the present study were to describe the incidence of
NPM1
,
FLT3
and
CEBPA
mutations and to analyze their prognostic impact in this population. The incidences of these mutations within a population of 216 pediatric AML cases were:
NPM1
-mutated 4.2 %,
CEBPA
-mutated 1.9 %,
FLT3
-ITD 10.2 % and
FLT3
-TKD 7.9 %. Among 33 patients with normal karyotype, we found significantly higher frequencies for
NPM1
-mutated 24.2 % and
CEBPA
-mutated 12.1 %. Overall survival (pOS) for the 163 eligible non-acute promyelocytic leukemia cases was 46.2 ± 4.3 %, while leukemia-free survival probability was 51.0 ± 4.4 % (
n
= 135). The
NPM1
-mutated/
FLT3
-ITD-negative genotype showed better outcome than any other combined
NPM1
/
FLT3
genotype; this difference was statistically significant within the group of high-risk patients (pOS ± SE 83.3 ± 15.2 % versus 33.1 ± 4.7 %;
p
= 0.0251). This is the first report of the frequencies of these mutations in Argentina. Despite the limited number of patients, a favorable prognosis of AML with genotype
NPM1
-mutated/
FLT3
-ITD-negative was confirmed. This is especially relevant within the high-risk group of patients, as it may contribute to the detection of patients with better prognosis, and thus avoid unnecessary treatment intensification. |
| doi_str_mv | 10.1007/s12185-016-2064-5 |
| format | Article |
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NPM1
,
FLT3
and
CEBPA
genes are found in 25–35 % of adult acute myeloblastic leukemia (AML) cases and correlate with prognosis. To date, there have been no reports about these mutations in pediatric AML from Argentina. The aims of the present study were to describe the incidence of
NPM1
,
FLT3
and
CEBPA
mutations and to analyze their prognostic impact in this population. The incidences of these mutations within a population of 216 pediatric AML cases were:
NPM1
-mutated 4.2 %,
CEBPA
-mutated 1.9 %,
FLT3
-ITD 10.2 % and
FLT3
-TKD 7.9 %. Among 33 patients with normal karyotype, we found significantly higher frequencies for
NPM1
-mutated 24.2 % and
CEBPA
-mutated 12.1 %. Overall survival (pOS) for the 163 eligible non-acute promyelocytic leukemia cases was 46.2 ± 4.3 %, while leukemia-free survival probability was 51.0 ± 4.4 % (
n
= 135). The
NPM1
-mutated/
FLT3
-ITD-negative genotype showed better outcome than any other combined
NPM1
/
FLT3
genotype; this difference was statistically significant within the group of high-risk patients (pOS ± SE 83.3 ± 15.2 % versus 33.1 ± 4.7 %;
p
= 0.0251). This is the first report of the frequencies of these mutations in Argentina. Despite the limited number of patients, a favorable prognosis of AML with genotype
NPM1
-mutated/
FLT3
-ITD-negative was confirmed. This is especially relevant within the high-risk group of patients, as it may contribute to the detection of patients with better prognosis, and thus avoid unnecessary treatment intensification.</description><identifier>ISSN: 0925-5710</identifier><identifier>EISSN: 1865-3774</identifier><identifier>DOI: 10.1007/s12185-016-2064-5</identifier><identifier>PMID: 27436336</identifier><language>eng</language><publisher>Tokyo: Springer Japan</publisher><subject>Adolescent ; Argentina - epidemiology ; CCAAT-Enhancer-Binding Proteins - genetics ; Child ; Child, Preschool ; fms-Like Tyrosine Kinase 3 - genetics ; Hematology ; Humans ; Incidence ; Leukemia, Myeloid, Acute - diagnosis ; Leukemia, Myeloid, Acute - epidemiology ; Leukemia, Myeloid, Acute - genetics ; Leukemia, Myeloid, Acute - mortality ; Medicine ; Medicine & Public Health ; Mutation ; Nuclear Proteins - genetics ; Oncology ; Original Article ; Prognosis ; Survival Analysis ; Tandem Repeat Sequences</subject><ispartof>International journal of hematology, 2016-11, Vol.104 (5), p.582-590</ispartof><rights>The Japanese Society of Hematology 2016</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c429t-935f1963b9d6aea447ab824cadb634471e2733e275817b60e6afae2eff1f45a63</citedby><cites>FETCH-LOGICAL-c429t-935f1963b9d6aea447ab824cadb634471e2733e275817b60e6afae2eff1f45a63</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://link.springer.com/content/pdf/10.1007/s12185-016-2064-5$$EPDF$$P50$$Gspringer$$H</linktopdf><linktohtml>$$Uhttps://link.springer.com/10.1007/s12185-016-2064-5$$EHTML$$P50$$Gspringer$$H</linktohtml><link.rule.ids>314,780,784,27923,27924,41487,42556,51318</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/27436336$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Rubio, Patricia</creatorcontrib><creatorcontrib>Campos, B.</creatorcontrib><creatorcontrib>Digiorge, J. A.</creatorcontrib><creatorcontrib>Gallego, M. S.</creatorcontrib><creatorcontrib>Medina, A.</creatorcontrib><creatorcontrib>Rossi, J. G.</creatorcontrib><creatorcontrib>Felice, M. S.</creatorcontrib><creatorcontrib>Alonso, C. N.</creatorcontrib><title>NPM1, FLT3 and CEBPA mutations in pediatric patients with AML from Argentina: incidence and prognostic value</title><title>International journal of hematology</title><addtitle>Int J Hematol</addtitle><addtitle>Int J Hematol</addtitle><description>Mutations in
NPM1
,
FLT3
and
CEBPA
genes are found in 25–35 % of adult acute myeloblastic leukemia (AML) cases and correlate with prognosis. To date, there have been no reports about these mutations in pediatric AML from Argentina. The aims of the present study were to describe the incidence of
NPM1
,
FLT3
and
CEBPA
mutations and to analyze their prognostic impact in this population. The incidences of these mutations within a population of 216 pediatric AML cases were:
NPM1
-mutated 4.2 %,
CEBPA
-mutated 1.9 %,
FLT3
-ITD 10.2 % and
FLT3
-TKD 7.9 %. Among 33 patients with normal karyotype, we found significantly higher frequencies for
NPM1
-mutated 24.2 % and
CEBPA
-mutated 12.1 %. Overall survival (pOS) for the 163 eligible non-acute promyelocytic leukemia cases was 46.2 ± 4.3 %, while leukemia-free survival probability was 51.0 ± 4.4 % (
n
= 135). The
NPM1
-mutated/
FLT3
-ITD-negative genotype showed better outcome than any other combined
NPM1
/
FLT3
genotype; this difference was statistically significant within the group of high-risk patients (pOS ± SE 83.3 ± 15.2 % versus 33.1 ± 4.7 %;
p
= 0.0251). This is the first report of the frequencies of these mutations in Argentina. Despite the limited number of patients, a favorable prognosis of AML with genotype
NPM1
-mutated/
FLT3
-ITD-negative was confirmed. This is especially relevant within the high-risk group of patients, as it may contribute to the detection of patients with better prognosis, and thus avoid unnecessary treatment intensification.</description><subject>Adolescent</subject><subject>Argentina - epidemiology</subject><subject>CCAAT-Enhancer-Binding Proteins - genetics</subject><subject>Child</subject><subject>Child, Preschool</subject><subject>fms-Like Tyrosine Kinase 3 - genetics</subject><subject>Hematology</subject><subject>Humans</subject><subject>Incidence</subject><subject>Leukemia, Myeloid, Acute - diagnosis</subject><subject>Leukemia, Myeloid, Acute - epidemiology</subject><subject>Leukemia, Myeloid, Acute - genetics</subject><subject>Leukemia, Myeloid, Acute - mortality</subject><subject>Medicine</subject><subject>Medicine & Public Health</subject><subject>Mutation</subject><subject>Nuclear Proteins - genetics</subject><subject>Oncology</subject><subject>Original Article</subject><subject>Prognosis</subject><subject>Survival Analysis</subject><subject>Tandem Repeat Sequences</subject><issn>0925-5710</issn><issn>1865-3774</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2016</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><sourceid>ABUWG</sourceid><sourceid>AFKRA</sourceid><sourceid>BENPR</sourceid><sourceid>CCPQU</sourceid><recordid>eNqNkU9v1DAQxS1ERbeFD8AFWeLCoSke_024bVctIG2hh3K2nGSyuEqcxU5AfHsctiCEVKkXWx7_3puxHyEvgZ0DY-ZtAg6lKhjogjMtC_WErKDUqhDGyKdkxSquCmWAHZOTlO4YA8OkeUaOuZFCC6FXpP90cw1n9Gp7K6gLLd1cXtys6TBPbvJjSNQHusfWuyn6hu5zEcOU6A8_faXr6y3t4jjQddzlqg_uXcYb32Jo8LfZPo67MKYpS7-7fsbn5KhzfcIX9_sp-XJ1ebv5UGw_v_-4WW-LRvJqKiqhOqi0qKtWO3RSGleXXDaurbXIJ0BuhMiLKsHUmqF2nUOOXQedVE6LU_Lm4JsH-DZjmuzgU4N97wKOc7JQCiM4yz_zCJRrw5VgC_r6P_RunGPID1kMQZtSsaU3HKgmjilF7Ow--sHFnxaYXVKzh9RsTs0uqVmVNa_uned6wPav4k9MGeAHIOWrsMP4T-sHXX8B2zafnA</recordid><startdate>20161101</startdate><enddate>20161101</enddate><creator>Rubio, Patricia</creator><creator>Campos, B.</creator><creator>Digiorge, J. 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N.</creator><general>Springer Japan</general><general>Springer Nature B.V</general><scope>CGR</scope><scope>CUY</scope><scope>CVF</scope><scope>ECM</scope><scope>EIF</scope><scope>NPM</scope><scope>AAYXX</scope><scope>CITATION</scope><scope>3V.</scope><scope>7RV</scope><scope>7T5</scope><scope>7T7</scope><scope>7TM</scope><scope>7X7</scope><scope>7XB</scope><scope>88E</scope><scope>8AO</scope><scope>8FD</scope><scope>8FI</scope><scope>8FJ</scope><scope>8FK</scope><scope>ABUWG</scope><scope>AFKRA</scope><scope>BENPR</scope><scope>C1K</scope><scope>CCPQU</scope><scope>FR3</scope><scope>FYUFA</scope><scope>GHDGH</scope><scope>H94</scope><scope>K9.</scope><scope>KB0</scope><scope>M0S</scope><scope>M1P</scope><scope>NAPCQ</scope><scope>P64</scope><scope>PQEST</scope><scope>PQQKQ</scope><scope>PQUKI</scope><scope>PRINS</scope><scope>7X8</scope></search><sort><creationdate>20161101</creationdate><title>NPM1, FLT3 and CEBPA mutations in pediatric patients with AML from Argentina: incidence and prognostic value</title><author>Rubio, Patricia ; Campos, B. ; Digiorge, J. 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A.</au><au>Gallego, M. S.</au><au>Medina, A.</au><au>Rossi, J. G.</au><au>Felice, M. S.</au><au>Alonso, C. N.</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>NPM1, FLT3 and CEBPA mutations in pediatric patients with AML from Argentina: incidence and prognostic value</atitle><jtitle>International journal of hematology</jtitle><stitle>Int J Hematol</stitle><addtitle>Int J Hematol</addtitle><date>2016-11-01</date><risdate>2016</risdate><volume>104</volume><issue>5</issue><spage>582</spage><epage>590</epage><pages>582-590</pages><issn>0925-5710</issn><eissn>1865-3774</eissn><abstract>Mutations in
NPM1
,
FLT3
and
CEBPA
genes are found in 25–35 % of adult acute myeloblastic leukemia (AML) cases and correlate with prognosis. To date, there have been no reports about these mutations in pediatric AML from Argentina. The aims of the present study were to describe the incidence of
NPM1
,
FLT3
and
CEBPA
mutations and to analyze their prognostic impact in this population. The incidences of these mutations within a population of 216 pediatric AML cases were:
NPM1
-mutated 4.2 %,
CEBPA
-mutated 1.9 %,
FLT3
-ITD 10.2 % and
FLT3
-TKD 7.9 %. Among 33 patients with normal karyotype, we found significantly higher frequencies for
NPM1
-mutated 24.2 % and
CEBPA
-mutated 12.1 %. Overall survival (pOS) for the 163 eligible non-acute promyelocytic leukemia cases was 46.2 ± 4.3 %, while leukemia-free survival probability was 51.0 ± 4.4 % (
n
= 135). The
NPM1
-mutated/
FLT3
-ITD-negative genotype showed better outcome than any other combined
NPM1
/
FLT3
genotype; this difference was statistically significant within the group of high-risk patients (pOS ± SE 83.3 ± 15.2 % versus 33.1 ± 4.7 %;
p
= 0.0251). This is the first report of the frequencies of these mutations in Argentina. Despite the limited number of patients, a favorable prognosis of AML with genotype
NPM1
-mutated/
FLT3
-ITD-negative was confirmed. This is especially relevant within the high-risk group of patients, as it may contribute to the detection of patients with better prognosis, and thus avoid unnecessary treatment intensification.</abstract><cop>Tokyo</cop><pub>Springer Japan</pub><pmid>27436336</pmid><doi>10.1007/s12185-016-2064-5</doi><tpages>9</tpages></addata></record> |
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| subjects | Adolescent Argentina - epidemiology CCAAT-Enhancer-Binding Proteins - genetics Child Child, Preschool fms-Like Tyrosine Kinase 3 - genetics Hematology Humans Incidence Leukemia, Myeloid, Acute - diagnosis Leukemia, Myeloid, Acute - epidemiology Leukemia, Myeloid, Acute - genetics Leukemia, Myeloid, Acute - mortality Medicine Medicine & Public Health Mutation Nuclear Proteins - genetics Oncology Original Article Prognosis Survival Analysis Tandem Repeat Sequences |
| title | NPM1, FLT3 and CEBPA mutations in pediatric patients with AML from Argentina: incidence and prognostic value |
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