A t(17;20)(q21;q12) masking a variant t(15;17)(q22;q21) in a patient with acute promyelocytic leukemia
Acute promyelocytic leukemia (APL) is genetically characterized by a reciprocal translocation between chromosomes 15 and 17, the t(15;17)(q22;q21), which results in the fusion gene PML/RARA. A small proportion of patients with APL have complex or simple variants of this translocation. We report the...
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Veröffentlicht in: | Cancer genetics and cytogenetics 2006-07, Vol.168 (1), p.73-76 |
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container_title | Cancer genetics and cytogenetics |
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creator | García-Casado, Zaida Cervera, José Valencia, Ana Pajuelo, Juan C. Mena-Duran, Armando V. Barragán, Eva Bolufer, Pascual Sanz, Miguel A. |
description | Acute promyelocytic leukemia (APL) is genetically characterized by a reciprocal translocation between chromosomes 15 and 17, the t(15;17)(q22;q21), which results in the fusion gene
PML/RARA. A small proportion of patients with APL have complex or simple variants of this translocation. We report the case of a 31-year-old woman with APL (FAB-M3 classical form) carrying an apparently balanced translocation t(17;20)(q21;q12) masking a t(15;17)(q22;q21) confirmed by fluorescence in situ hybridization (FISH) and molecular studies. The patient was treated with an all-trans-retinoic acid (ATRA) plus anthracycline-based protocol and achieved complete remission, with no recurrence to date. These results illustrate the usefulness of combining cytogenetics, FISH, and reverse transcription–polymerase chain reaction (RT-PCR) methods to evidence the
PML/RARA fusion gene in cases with morphologic suspicion of APL with variant or cryptic t(15;17). |
doi_str_mv | 10.1016/j.cancergencyto.2005.12.014 |
format | Article |
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PML/RARA. A small proportion of patients with APL have complex or simple variants of this translocation. We report the case of a 31-year-old woman with APL (FAB-M3 classical form) carrying an apparently balanced translocation t(17;20)(q21;q12) masking a t(15;17)(q22;q21) confirmed by fluorescence in situ hybridization (FISH) and molecular studies. The patient was treated with an all-trans-retinoic acid (ATRA) plus anthracycline-based protocol and achieved complete remission, with no recurrence to date. These results illustrate the usefulness of combining cytogenetics, FISH, and reverse transcription–polymerase chain reaction (RT-PCR) methods to evidence the
PML/RARA fusion gene in cases with morphologic suspicion of APL with variant or cryptic t(15;17).</description><identifier>ISSN: 0165-4608</identifier><identifier>EISSN: 1873-4456</identifier><identifier>DOI: 10.1016/j.cancergencyto.2005.12.014</identifier><identifier>PMID: 16772124</identifier><language>eng</language><publisher>United States: Elsevier Inc</publisher><subject>Adult ; Anthracyclines - therapeutic use ; Chromosome Painting ; Chromosomes, Human, Pair 15 - genetics ; Chromosomes, Human, Pair 17 - genetics ; Chromosomes, Human, Pair 20 - genetics ; Female ; Humans ; In Situ Hybridization, Fluorescence ; Leukemia, Promyelocytic, Acute - drug therapy ; Leukemia, Promyelocytic, Acute - genetics ; Neoplasm Proteins - genetics ; Oncogene Proteins, Fusion - genetics ; Remission Induction ; Reverse Transcriptase Polymerase Chain Reaction ; Translocation, Genetic - genetics ; Tretinoin - therapeutic use</subject><ispartof>Cancer genetics and cytogenetics, 2006-07, Vol.168 (1), p.73-76</ispartof><rights>2006 Elsevier Inc.</rights><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c412t-3b52573ebfc50d99ac13ff0d18a264f54cf43ebe1243c579ae79efb7d33958ac3</citedby><cites>FETCH-LOGICAL-c412t-3b52573ebfc50d99ac13ff0d18a264f54cf43ebe1243c579ae79efb7d33958ac3</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktohtml>$$Uhttps://www.sciencedirect.com/science/article/pii/S0165460806000021$$EHTML$$P50$$Gelsevier$$H</linktohtml><link.rule.ids>314,776,780,3537,27901,27902,65306</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/16772124$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>García-Casado, Zaida</creatorcontrib><creatorcontrib>Cervera, José</creatorcontrib><creatorcontrib>Valencia, Ana</creatorcontrib><creatorcontrib>Pajuelo, Juan C.</creatorcontrib><creatorcontrib>Mena-Duran, Armando V.</creatorcontrib><creatorcontrib>Barragán, Eva</creatorcontrib><creatorcontrib>Bolufer, Pascual</creatorcontrib><creatorcontrib>Sanz, Miguel A.</creatorcontrib><title>A t(17;20)(q21;q12) masking a variant t(15;17)(q22;q21) in a patient with acute promyelocytic leukemia</title><title>Cancer genetics and cytogenetics</title><addtitle>Cancer Genet Cytogenet</addtitle><description>Acute promyelocytic leukemia (APL) is genetically characterized by a reciprocal translocation between chromosomes 15 and 17, the t(15;17)(q22;q21), which results in the fusion gene
PML/RARA. A small proportion of patients with APL have complex or simple variants of this translocation. We report the case of a 31-year-old woman with APL (FAB-M3 classical form) carrying an apparently balanced translocation t(17;20)(q21;q12) masking a t(15;17)(q22;q21) confirmed by fluorescence in situ hybridization (FISH) and molecular studies. The patient was treated with an all-trans-retinoic acid (ATRA) plus anthracycline-based protocol and achieved complete remission, with no recurrence to date. These results illustrate the usefulness of combining cytogenetics, FISH, and reverse transcription–polymerase chain reaction (RT-PCR) methods to evidence the
PML/RARA fusion gene in cases with morphologic suspicion of APL with variant or cryptic t(15;17).</description><subject>Adult</subject><subject>Anthracyclines - therapeutic use</subject><subject>Chromosome Painting</subject><subject>Chromosomes, Human, Pair 15 - genetics</subject><subject>Chromosomes, Human, Pair 17 - genetics</subject><subject>Chromosomes, Human, Pair 20 - genetics</subject><subject>Female</subject><subject>Humans</subject><subject>In Situ Hybridization, Fluorescence</subject><subject>Leukemia, Promyelocytic, Acute - drug therapy</subject><subject>Leukemia, Promyelocytic, Acute - genetics</subject><subject>Neoplasm Proteins - genetics</subject><subject>Oncogene Proteins, Fusion - genetics</subject><subject>Remission Induction</subject><subject>Reverse Transcriptase Polymerase Chain Reaction</subject><subject>Translocation, Genetic - genetics</subject><subject>Tretinoin - therapeutic use</subject><issn>0165-4608</issn><issn>1873-4456</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2006</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNqNkc1r3DAQxUVpaTZp_4ViKJTswa5GH5aNTyGkaSHQS3sWWnmUauOPXUlO2P--Wnah9NSe5vB-M_N4j5CPQCugUH_eVtZMFsMjTvaQ5opRKitgFQXxiqygUbwUQtavySrTshQ1bS7IZYxbSqlibf2WXECtFAMmVsTdFOkaVMfo-nrPoNsDWxejiU9-eixM8WyCN1M6MrIDdWRYl7l14acs70zymOUXn34Vxi4Ji12YxwMOc7bmbTHg8oSjN-_IG2eGiO_P84r8_HL34_Zr-fD9_tvtzUNpBbBU8o1kUnHcOCtp37bGAneO9tAYVgsnhXUiq5itcytVa1C16Daq57yVjbH8inw63c029gvGpEcfLQ6DmXBeoq4bqmrB4Z8goywn1MoMdifQhjnGgE7vgh9NOGig-tiH3uq_-tDHPjQwnfvI2x_Ob5bNiP2f3XMBGbg7AZhTefYYdLQ5Uou9D2iT7mf_X49-A1YXoF8</recordid><startdate>20060701</startdate><enddate>20060701</enddate><creator>García-Casado, Zaida</creator><creator>Cervera, José</creator><creator>Valencia, Ana</creator><creator>Pajuelo, Juan C.</creator><creator>Mena-Duran, Armando V.</creator><creator>Barragán, Eva</creator><creator>Bolufer, Pascual</creator><creator>Sanz, Miguel A.</creator><general>Elsevier Inc</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>7T5</scope><scope>8FD</scope><scope>FR3</scope><scope>H94</scope><scope>P64</scope><scope>RC3</scope><scope>7X8</scope></search><sort><creationdate>20060701</creationdate><title>A t(17;20)(q21;q12) masking a variant t(15;17)(q22;q21) in a patient with acute promyelocytic leukemia</title><author>García-Casado, Zaida ; 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subjects | Adult Anthracyclines - therapeutic use Chromosome Painting Chromosomes, Human, Pair 15 - genetics Chromosomes, Human, Pair 17 - genetics Chromosomes, Human, Pair 20 - genetics Female Humans In Situ Hybridization, Fluorescence Leukemia, Promyelocytic, Acute - drug therapy Leukemia, Promyelocytic, Acute - genetics Neoplasm Proteins - genetics Oncogene Proteins, Fusion - genetics Remission Induction Reverse Transcriptase Polymerase Chain Reaction Translocation, Genetic - genetics Tretinoin - therapeutic use |
title | A t(17;20)(q21;q12) masking a variant t(15;17)(q22;q21) in a patient with acute promyelocytic leukemia |
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