Acute myeloid leukemia with t(16;16) (p13;q22) showing a new CBFB-MYH11 fusion transcript associated with an atypical leukemic blasts morphology
Summary Acute myeloid leukemia (AML) cases with inv(16)(p13q22) or t(16;16)(p13;q22) are characterized by multiple CBFB-MYH11 fusion transcripts, type A being the most frequent. Rare fusion variants are frequently correlated with an atypical cytomorphology, but their biologic and prognostic signific...
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| Veröffentlicht in: | Human pathology 2014-03, Vol.45 (3), p.643-647 |
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| creator | Albano, Francesco, MD Anelli, Luisa, MS Zagaria, Antonella, MS Coccaro, Nicoletta, MS Tota, Giuseppina, MS Impera, Luciana, MS Minervini, Crescenzio Francesco, MS Cellamare, Angelo, MS Delia, Mario, MD Minervini, Angela, MS Casieri, Paola, MS Specchia, Giorgina, MD |
| description | Summary Acute myeloid leukemia (AML) cases with inv(16)(p13q22) or t(16;16)(p13;q22) are characterized by multiple CBFB-MYH11 fusion transcripts, type A being the most frequent. Rare fusion variants are frequently correlated with an atypical cytomorphology, but their biologic and prognostic significance is unclear. We report a case of acute myeloid leukemia with a balanced t(16;16)(p13;q22) and additional monosomy 13 showing a new CBFB-MYH11 fusion transcript variant. The patient also showed an atypical morphology of bone marrow blasts, since about 15% of all blasts showed bilobed nuclei but there was no pathologic eosinophilia. The biologic and prognostic implications of this rare association are discussed. |
| doi_str_mv | 10.1016/j.humpath.2013.09.013 |
| format | Article |
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Rare fusion variants are frequently correlated with an atypical cytomorphology, but their biologic and prognostic significance is unclear. We report a case of acute myeloid leukemia with a balanced t(16;16)(p13;q22) and additional monosomy 13 showing a new CBFB-MYH11 fusion transcript variant. The patient also showed an atypical morphology of bone marrow blasts, since about 15% of all blasts showed bilobed nuclei but there was no pathologic eosinophilia. The biologic and prognostic implications of this rare association are discussed.</description><identifier>ISSN: 0046-8177</identifier><identifier>EISSN: 1532-8392</identifier><identifier>DOI: 10.1016/j.humpath.2013.09.013</identifier><identifier>PMID: 24342433</identifier><language>eng</language><publisher>United States: Elsevier Inc</publisher><subject>Bilobed leukemic blast ; Bone marrow ; CBFB-MYH11 fusion gene ; Chromosome Inversion ; Chromosomes, Human, Pair 16 ; Core Binding Factor beta Subunit - genetics ; Female ; Fusion transcript variants ; Genes ; Humans ; Leukemia ; Leukemia, Myeloid, Acute - genetics ; Leukemia, Myeloid, Acute - pathology ; Middle Aged ; Mutation ; Myosin Heavy Chains - genetics ; Oncogene Proteins, Fusion - genetics ; Pathology ; t(16;16)</subject><ispartof>Human pathology, 2014-03, Vol.45 (3), p.643-647</ispartof><rights>Elsevier Inc.</rights><rights>2014 Elsevier Inc.</rights><rights>2014 Elsevier Inc. All rights reserved.</rights><rights>Copyright Elsevier Limited Mar 2014</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c448t-c207bdd5fa6221a99fc091c011a86e75fbec7347b919603714cb6abe1e24cda23</citedby><cites>FETCH-LOGICAL-c448t-c207bdd5fa6221a99fc091c011a86e75fbec7347b919603714cb6abe1e24cda23</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktohtml>$$Uhttps://www.sciencedirect.com/science/article/pii/S0046817713004103$$EHTML$$P50$$Gelsevier$$H</linktohtml><link.rule.ids>314,776,780,3537,27901,27902,65306</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/24342433$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Albano, Francesco, MD</creatorcontrib><creatorcontrib>Anelli, Luisa, MS</creatorcontrib><creatorcontrib>Zagaria, Antonella, MS</creatorcontrib><creatorcontrib>Coccaro, Nicoletta, MS</creatorcontrib><creatorcontrib>Tota, Giuseppina, MS</creatorcontrib><creatorcontrib>Impera, Luciana, MS</creatorcontrib><creatorcontrib>Minervini, Crescenzio Francesco, MS</creatorcontrib><creatorcontrib>Cellamare, Angelo, MS</creatorcontrib><creatorcontrib>Delia, Mario, MD</creatorcontrib><creatorcontrib>Minervini, Angela, MS</creatorcontrib><creatorcontrib>Casieri, Paola, MS</creatorcontrib><creatorcontrib>Specchia, Giorgina, MD</creatorcontrib><title>Acute myeloid leukemia with t(16;16) (p13;q22) showing a new CBFB-MYH11 fusion transcript associated with an atypical leukemic blasts morphology</title><title>Human pathology</title><addtitle>Hum Pathol</addtitle><description>Summary Acute myeloid leukemia (AML) cases with inv(16)(p13q22) or t(16;16)(p13;q22) are characterized by multiple CBFB-MYH11 fusion transcripts, type A being the most frequent. Rare fusion variants are frequently correlated with an atypical cytomorphology, but their biologic and prognostic significance is unclear. We report a case of acute myeloid leukemia with a balanced t(16;16)(p13;q22) and additional monosomy 13 showing a new CBFB-MYH11 fusion transcript variant. The patient also showed an atypical morphology of bone marrow blasts, since about 15% of all blasts showed bilobed nuclei but there was no pathologic eosinophilia. The biologic and prognostic implications of this rare association are discussed.</description><subject>Bilobed leukemic blast</subject><subject>Bone marrow</subject><subject>CBFB-MYH11 fusion gene</subject><subject>Chromosome Inversion</subject><subject>Chromosomes, Human, Pair 16</subject><subject>Core Binding Factor beta Subunit - genetics</subject><subject>Female</subject><subject>Fusion transcript variants</subject><subject>Genes</subject><subject>Humans</subject><subject>Leukemia</subject><subject>Leukemia, Myeloid, Acute - genetics</subject><subject>Leukemia, Myeloid, Acute - pathology</subject><subject>Middle Aged</subject><subject>Mutation</subject><subject>Myosin Heavy Chains - genetics</subject><subject>Oncogene Proteins, Fusion - genetics</subject><subject>Pathology</subject><subject>t(16;16)</subject><issn>0046-8177</issn><issn>1532-8392</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2014</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNqFkk1v1DAQhiMEokvhJ4AscdkesnjsfKxVqahdtRSpiANw4GQ5zqTrbRKntsNq_wU_uQ67BakXDtb48Mw7H-8kyVugC6BQfNgs1mM3qLBeMAp8QcUihmfJDHLO0iUX7HkyozQr0iWU5VHyyvsNpQB5lr9MjljGs_j4LPl9rseApNtha01NWhzvsDOKbE1YkzCH4hSKEzIfgJ_eM3ZC_NpuTX9LFOlxS1YXVxfpl5_XAKQZvbE9CU71XjszBKK8t9qogPVeTfVEhd1gtGof62hStcoHTzrrhrVt7e3udfKiUa3HN4d4nPy4uvy-uk5vvn76vDq_SXWWLUOqGS2rus4bVTAGSohGUwE6TqiWBZZ5U6EueVZWAkRBeQmZrgpVISDLdK0YP07me93B2fsRfZCd8RrbVvVoRy8hEyLuMuMT-v4JurGj62N3f6iiyLnII5XvKe2s9w4bOTjTKbeTQOVkmdzIg2VyskxSIWOIee8O6mPVYf0369GjCHzcAxjX8cugk14b7DXWxqEOsrbmvyXOnijo1vSTEXe4Q_9vGumZpPLbdDfT2QCPP6CcPwDj4b3s</recordid><startdate>20140301</startdate><enddate>20140301</enddate><creator>Albano, Francesco, MD</creator><creator>Anelli, Luisa, MS</creator><creator>Zagaria, Antonella, MS</creator><creator>Coccaro, Nicoletta, MS</creator><creator>Tota, Giuseppina, MS</creator><creator>Impera, Luciana, MS</creator><creator>Minervini, Crescenzio Francesco, MS</creator><creator>Cellamare, Angelo, MS</creator><creator>Delia, Mario, MD</creator><creator>Minervini, Angela, MS</creator><creator>Casieri, Paola, MS</creator><creator>Specchia, Giorgina, MD</creator><general>Elsevier Inc</general><general>Elsevier Limited</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>K9.</scope><scope>7X8</scope></search><sort><creationdate>20140301</creationdate><title>Acute myeloid leukemia with t(16;16) (p13;q22) showing a new CBFB-MYH11 fusion transcript associated with an atypical leukemic blasts morphology</title><author>Albano, Francesco, MD ; Anelli, Luisa, MS ; Zagaria, Antonella, MS ; Coccaro, Nicoletta, MS ; Tota, Giuseppina, MS ; Impera, Luciana, MS ; Minervini, Crescenzio Francesco, MS ; Cellamare, Angelo, MS ; Delia, Mario, MD ; Minervini, Angela, MS ; Casieri, Paola, MS ; Specchia, Giorgina, MD</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c448t-c207bdd5fa6221a99fc091c011a86e75fbec7347b919603714cb6abe1e24cda23</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2014</creationdate><topic>Bilobed leukemic blast</topic><topic>Bone marrow</topic><topic>CBFB-MYH11 fusion gene</topic><topic>Chromosome Inversion</topic><topic>Chromosomes, Human, Pair 16</topic><topic>Core Binding Factor beta Subunit - genetics</topic><topic>Female</topic><topic>Fusion transcript variants</topic><topic>Genes</topic><topic>Humans</topic><topic>Leukemia</topic><topic>Leukemia, Myeloid, Acute - genetics</topic><topic>Leukemia, Myeloid, Acute - pathology</topic><topic>Middle Aged</topic><topic>Mutation</topic><topic>Myosin Heavy Chains - genetics</topic><topic>Oncogene Proteins, Fusion - genetics</topic><topic>Pathology</topic><topic>t(16;16)</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Albano, Francesco, MD</creatorcontrib><creatorcontrib>Anelli, Luisa, MS</creatorcontrib><creatorcontrib>Zagaria, Antonella, MS</creatorcontrib><creatorcontrib>Coccaro, Nicoletta, MS</creatorcontrib><creatorcontrib>Tota, Giuseppina, MS</creatorcontrib><creatorcontrib>Impera, Luciana, MS</creatorcontrib><creatorcontrib>Minervini, Crescenzio Francesco, MS</creatorcontrib><creatorcontrib>Cellamare, Angelo, MS</creatorcontrib><creatorcontrib>Delia, Mario, MD</creatorcontrib><creatorcontrib>Minervini, Angela, MS</creatorcontrib><creatorcontrib>Casieri, Paola, MS</creatorcontrib><creatorcontrib>Specchia, Giorgina, MD</creatorcontrib><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>ProQuest Health & Medical Complete (Alumni)</collection><collection>MEDLINE - Academic</collection><jtitle>Human pathology</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Albano, Francesco, MD</au><au>Anelli, Luisa, MS</au><au>Zagaria, Antonella, MS</au><au>Coccaro, Nicoletta, MS</au><au>Tota, Giuseppina, MS</au><au>Impera, Luciana, MS</au><au>Minervini, Crescenzio Francesco, MS</au><au>Cellamare, Angelo, MS</au><au>Delia, Mario, MD</au><au>Minervini, Angela, MS</au><au>Casieri, Paola, MS</au><au>Specchia, Giorgina, MD</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Acute myeloid leukemia with t(16;16) (p13;q22) showing a new CBFB-MYH11 fusion transcript associated with an atypical leukemic blasts morphology</atitle><jtitle>Human pathology</jtitle><addtitle>Hum Pathol</addtitle><date>2014-03-01</date><risdate>2014</risdate><volume>45</volume><issue>3</issue><spage>643</spage><epage>647</epage><pages>643-647</pages><issn>0046-8177</issn><eissn>1532-8392</eissn><abstract>Summary Acute myeloid leukemia (AML) cases with inv(16)(p13q22) or t(16;16)(p13;q22) are characterized by multiple CBFB-MYH11 fusion transcripts, type A being the most frequent. Rare fusion variants are frequently correlated with an atypical cytomorphology, but their biologic and prognostic significance is unclear. We report a case of acute myeloid leukemia with a balanced t(16;16)(p13;q22) and additional monosomy 13 showing a new CBFB-MYH11 fusion transcript variant. The patient also showed an atypical morphology of bone marrow blasts, since about 15% of all blasts showed bilobed nuclei but there was no pathologic eosinophilia. The biologic and prognostic implications of this rare association are discussed.</abstract><cop>United States</cop><pub>Elsevier Inc</pub><pmid>24342433</pmid><doi>10.1016/j.humpath.2013.09.013</doi><tpages>5</tpages></addata></record> |
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| ispartof | Human pathology, 2014-03, Vol.45 (3), p.643-647 |
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| subjects | Bilobed leukemic blast Bone marrow CBFB-MYH11 fusion gene Chromosome Inversion Chromosomes, Human, Pair 16 Core Binding Factor beta Subunit - genetics Female Fusion transcript variants Genes Humans Leukemia Leukemia, Myeloid, Acute - genetics Leukemia, Myeloid, Acute - pathology Middle Aged Mutation Myosin Heavy Chains - genetics Oncogene Proteins, Fusion - genetics Pathology t(16 16) |
| title | Acute myeloid leukemia with t(16;16) (p13;q22) showing a new CBFB-MYH11 fusion transcript associated with an atypical leukemic blasts morphology |
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