A Comparative Analysis of FISH, RT-PCR, PCR, and Immunohistochemistry for the Diagnosis of Mantle Cell Lymphomas
Mantle cell lymphoma (MCL) diagnosis first relies on morphology and phenotype that may overlap with other B-cell lymphomas. Therefore, the demonstration of t(11;14)(q13;q32), the cytogenetic hallmark of MCL, is considered of diagnostic value. By studying a series of 35 MCL with characteristic morpho...
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| Veröffentlicht in: | Modern pathology 2002-05, Vol.15 (5), p.517-525 |
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| creator | Belaud-Rotureau, Marc-Antoine Parrens, Marie Dubus, Pierre Garroste, Jean-Christophe de Mascarel, Antoine Merlio, Jean-Philippe |
| description | Mantle cell lymphoma (MCL) diagnosis first relies on morphology and phenotype that may overlap with other B-cell lymphomas. Therefore, the demonstration of t(11;14)(q13;q32), the cytogenetic hallmark of MCL, is considered of diagnostic value. By studying a series of 35 MCL with characteristic morphology and phenotype (CD5+, CD10−, CD20+, CD23−), we have evaluated the applicability and the sensitivity of interphase fluorescence in situ hybridization (FISH) for t(11;14) detection and other techniques: (1) polymerase chain reaction (PCR) for amplification of t(11;14) genomic breakpoint, (2) competitive RT-PCR for the detection of cyclin D1 transcripts overexpression, and (3) immunohistochemistry (IHC) for cyclin D1 protein detection. Tissues from different origins were analyzed: lymph nodes (n = 24), spleen (n = 3), digestive biopsy (n = 3), tonsils (n = 3), and skin (n = 2). Interphase FISH was performed either on touch preparations (n = 11) and frozen (n = 9) or paraffin sections (n = 15). FISH analysis detected t(11;14) in 34/35 cases (97%) and demonstrated a recurrent CCND1 amplification in t(11;14)+ nuclei of the three blastoid MCL variants of our series. Genomic PCR analysis, hampered by the scattering of 11q13 breakpoints, was positive in only 13/35 cases (37%). RT-PCR analysis was applicable on nonepithelial tissues (27/35) and showed cyclin D1 transcript overexpression in all tested cases (27/35). IHC for cyclin D1 protein was performed either on frozen (n = 12) or on paraffin sections (n = 23), and its sensitivity was higher on paraffin sections (91%) than on frozen sections (25%). A cyclin D1 protein immunoreactivity was observed in 24/35 cases (69%). Our study emphasizes on the use of FISH analysis for the direct detection of t(11;14) because its applicability and sensitivity largely exceeded those of other techniques. It may also provide some informations on secondary cytogenetic changes of potential clinical relevance. |
| doi_str_mv | 10.1038/modpathol.3880556 |
| format | Article |
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Therefore, the demonstration of t(11;14)(q13;q32), the cytogenetic hallmark of MCL, is considered of diagnostic value. By studying a series of 35 MCL with characteristic morphology and phenotype (CD5+, CD10−, CD20+, CD23−), we have evaluated the applicability and the sensitivity of interphase fluorescence in situ hybridization (FISH) for t(11;14) detection and other techniques: (1) polymerase chain reaction (PCR) for amplification of t(11;14) genomic breakpoint, (2) competitive RT-PCR for the detection of cyclin D1 transcripts overexpression, and (3) immunohistochemistry (IHC) for cyclin D1 protein detection. Tissues from different origins were analyzed: lymph nodes (n = 24), spleen (n = 3), digestive biopsy (n = 3), tonsils (n = 3), and skin (n = 2). Interphase FISH was performed either on touch preparations (n = 11) and frozen (n = 9) or paraffin sections (n = 15). FISH analysis detected t(11;14) in 34/35 cases (97%) and demonstrated a recurrent CCND1 amplification in t(11;14)+ nuclei of the three blastoid MCL variants of our series. Genomic PCR analysis, hampered by the scattering of 11q13 breakpoints, was positive in only 13/35 cases (37%). RT-PCR analysis was applicable on nonepithelial tissues (27/35) and showed cyclin D1 transcript overexpression in all tested cases (27/35). IHC for cyclin D1 protein was performed either on frozen (n = 12) or on paraffin sections (n = 23), and its sensitivity was higher on paraffin sections (91%) than on frozen sections (25%). A cyclin D1 protein immunoreactivity was observed in 24/35 cases (69%). Our study emphasizes on the use of FISH analysis for the direct detection of t(11;14) because its applicability and sensitivity largely exceeded those of other techniques. It may also provide some informations on secondary cytogenetic changes of potential clinical relevance.</description><identifier>ISSN: 0893-3952</identifier><identifier>EISSN: 1530-0285</identifier><identifier>DOI: 10.1038/modpathol.3880556</identifier><identifier>PMID: 12011256</identifier><identifier>CODEN: MODPEO</identifier><language>eng</language><publisher>New York: Elsevier Inc</publisher><subject>Antigens, CD20 - analysis ; Blotting, Southern ; CCND1 ; CD5 Antigens - analysis ; Chromosomes, Human, Pair 11 - genetics ; Chromosomes, Human, Pair 14 - genetics ; Cyclin D1 ; Cyclin D1 - analysis ; Cyclin D1 - genetics ; DNA, Neoplasm - genetics ; FISH ; Humans ; Immunohistochemistry ; In Situ Hybridization, Fluorescence ; Laboratory Medicine ; Lymphoma, Mantle-Cell - genetics ; Lymphoma, Mantle-Cell - metabolism ; Lymphoma, Mantle-Cell - pathology ; Mantle cell lymphoma ; Medicine ; Medicine & Public Health ; original-article ; Pathology ; PCR ; Polymerase Chain Reaction ; Reverse Transcriptase Polymerase Chain Reaction ; RNA, Messenger - genetics ; RNA, Messenger - metabolism ; RT-PCR ; t(11;14)(q13;q32) ; Translocation, Genetic</subject><ispartof>Modern pathology, 2002-05, Vol.15 (5), p.517-525</ispartof><rights>2002 United States & Canadian Academy of Pathology</rights><rights>The United States and Canadian Academy of Pathology, Inc. 2002</rights><rights>Copyright Nature Publishing Group May 2002</rights><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c589t-db27be05941fee27ec3642afdc95cf83b9d7859b3762945767f192bdffb838db3</citedby><cites>FETCH-LOGICAL-c589t-db27be05941fee27ec3642afdc95cf83b9d7859b3762945767f192bdffb838db3</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktohtml>$$Uhttps://www.proquest.com/docview/221212087?pq-origsite=primo$$EHTML$$P50$$Gproquest$$H</linktohtml><link.rule.ids>314,776,780,27903,27904,64361,64363,64365,72215</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/12011256$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Belaud-Rotureau, Marc-Antoine</creatorcontrib><creatorcontrib>Parrens, Marie</creatorcontrib><creatorcontrib>Dubus, Pierre</creatorcontrib><creatorcontrib>Garroste, Jean-Christophe</creatorcontrib><creatorcontrib>de Mascarel, Antoine</creatorcontrib><creatorcontrib>Merlio, Jean-Philippe</creatorcontrib><title>A Comparative Analysis of FISH, RT-PCR, PCR, and Immunohistochemistry for the Diagnosis of Mantle Cell Lymphomas</title><title>Modern pathology</title><addtitle>Mod Pathol</addtitle><addtitle>Mod Pathol</addtitle><description>Mantle cell lymphoma (MCL) diagnosis first relies on morphology and phenotype that may overlap with other B-cell lymphomas. Therefore, the demonstration of t(11;14)(q13;q32), the cytogenetic hallmark of MCL, is considered of diagnostic value. By studying a series of 35 MCL with characteristic morphology and phenotype (CD5+, CD10−, CD20+, CD23−), we have evaluated the applicability and the sensitivity of interphase fluorescence in situ hybridization (FISH) for t(11;14) detection and other techniques: (1) polymerase chain reaction (PCR) for amplification of t(11;14) genomic breakpoint, (2) competitive RT-PCR for the detection of cyclin D1 transcripts overexpression, and (3) immunohistochemistry (IHC) for cyclin D1 protein detection. Tissues from different origins were analyzed: lymph nodes (n = 24), spleen (n = 3), digestive biopsy (n = 3), tonsils (n = 3), and skin (n = 2). Interphase FISH was performed either on touch preparations (n = 11) and frozen (n = 9) or paraffin sections (n = 15). FISH analysis detected t(11;14) in 34/35 cases (97%) and demonstrated a recurrent CCND1 amplification in t(11;14)+ nuclei of the three blastoid MCL variants of our series. Genomic PCR analysis, hampered by the scattering of 11q13 breakpoints, was positive in only 13/35 cases (37%). RT-PCR analysis was applicable on nonepithelial tissues (27/35) and showed cyclin D1 transcript overexpression in all tested cases (27/35). IHC for cyclin D1 protein was performed either on frozen (n = 12) or on paraffin sections (n = 23), and its sensitivity was higher on paraffin sections (91%) than on frozen sections (25%). A cyclin D1 protein immunoreactivity was observed in 24/35 cases (69%). Our study emphasizes on the use of FISH analysis for the direct detection of t(11;14) because its applicability and sensitivity largely exceeded those of other techniques. 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analysis</topic><topic>Blotting, Southern</topic><topic>CCND1</topic><topic>CD5 Antigens - analysis</topic><topic>Chromosomes, Human, Pair 11 - genetics</topic><topic>Chromosomes, Human, Pair 14 - genetics</topic><topic>Cyclin D1</topic><topic>Cyclin D1 - analysis</topic><topic>Cyclin D1 - genetics</topic><topic>DNA, Neoplasm - genetics</topic><topic>FISH</topic><topic>Humans</topic><topic>Immunohistochemistry</topic><topic>In Situ Hybridization, Fluorescence</topic><topic>Laboratory Medicine</topic><topic>Lymphoma, Mantle-Cell - genetics</topic><topic>Lymphoma, Mantle-Cell - metabolism</topic><topic>Lymphoma, Mantle-Cell - pathology</topic><topic>Mantle cell lymphoma</topic><topic>Medicine</topic><topic>Medicine & Public Health</topic><topic>original-article</topic><topic>Pathology</topic><topic>PCR</topic><topic>Polymerase Chain Reaction</topic><topic>Reverse Transcriptase Polymerase Chain Reaction</topic><topic>RNA, Messenger - genetics</topic><topic>RNA, Messenger - metabolism</topic><topic>RT-PCR</topic><topic>t(11;14)(q13;q32)</topic><topic>Translocation, Genetic</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Belaud-Rotureau, Marc-Antoine</creatorcontrib><creatorcontrib>Parrens, Marie</creatorcontrib><creatorcontrib>Dubus, Pierre</creatorcontrib><creatorcontrib>Garroste, Jean-Christophe</creatorcontrib><creatorcontrib>de Mascarel, Antoine</creatorcontrib><creatorcontrib>Merlio, Jean-Philippe</creatorcontrib><collection>ScienceDirect Open Access Titles</collection><collection>Elsevier:ScienceDirect:Open Access</collection><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>ProQuest Central (Corporate)</collection><collection>Calcium & Calcified Tissue Abstracts</collection><collection>Nursing & Allied Health Database</collection><collection>Neurosciences Abstracts</collection><collection>Health & Medical Collection</collection><collection>ProQuest Central (purchase pre-March 2016)</collection><collection>Biology Database (Alumni Edition)</collection><collection>Medical Database (Alumni Edition)</collection><collection>ProQuest Pharma Collection</collection><collection>ProQuest SciTech Collection</collection><collection>ProQuest Natural Science Collection</collection><collection>Hospital Premium Collection</collection><collection>Hospital Premium Collection (Alumni Edition)</collection><collection>ProQuest Central (Alumni) (purchase pre-March 2016)</collection><collection>ProQuest Central (Alumni Edition)</collection><collection>ProQuest Central UK/Ireland</collection><collection>ProQuest Central Essentials</collection><collection>Biological Science Collection</collection><collection>ProQuest Central</collection><collection>Natural Science Collection (ProQuest)</collection><collection>ProQuest One Community College</collection><collection>ProQuest Central Korea</collection><collection>Health Research Premium Collection</collection><collection>Health Research Premium Collection (Alumni)</collection><collection>ProQuest Central Student</collection><collection>SciTech Premium Collection</collection><collection>ProQuest Health & Medical Complete (Alumni)</collection><collection>Nursing & Allied Health Database (Alumni Edition)</collection><collection>ProQuest Biological Science Collection</collection><collection>Health & Medical Collection (Alumni Edition)</collection><collection>Medical Database</collection><collection>Biological Science Database</collection><collection>Nursing & Allied Health Premium</collection><collection>ProQuest One Academic Eastern Edition (DO NOT USE)</collection><collection>ProQuest One Academic</collection><collection>ProQuest One Academic UKI Edition</collection><collection>ProQuest Central China</collection><collection>MEDLINE - Academic</collection><collection>Immunology Abstracts</collection><collection>AIDS and Cancer Research Abstracts</collection><jtitle>Modern pathology</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Belaud-Rotureau, Marc-Antoine</au><au>Parrens, Marie</au><au>Dubus, Pierre</au><au>Garroste, Jean-Christophe</au><au>de Mascarel, Antoine</au><au>Merlio, Jean-Philippe</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>A Comparative Analysis of FISH, RT-PCR, PCR, and Immunohistochemistry for the Diagnosis of Mantle Cell Lymphomas</atitle><jtitle>Modern pathology</jtitle><stitle>Mod Pathol</stitle><addtitle>Mod Pathol</addtitle><date>2002-05-01</date><risdate>2002</risdate><volume>15</volume><issue>5</issue><spage>517</spage><epage>525</epage><pages>517-525</pages><issn>0893-3952</issn><eissn>1530-0285</eissn><coden>MODPEO</coden><abstract>Mantle cell lymphoma (MCL) diagnosis first relies on morphology and phenotype that may overlap with other B-cell lymphomas. Therefore, the demonstration of t(11;14)(q13;q32), the cytogenetic hallmark of MCL, is considered of diagnostic value. By studying a series of 35 MCL with characteristic morphology and phenotype (CD5+, CD10−, CD20+, CD23−), we have evaluated the applicability and the sensitivity of interphase fluorescence in situ hybridization (FISH) for t(11;14) detection and other techniques: (1) polymerase chain reaction (PCR) for amplification of t(11;14) genomic breakpoint, (2) competitive RT-PCR for the detection of cyclin D1 transcripts overexpression, and (3) immunohistochemistry (IHC) for cyclin D1 protein detection. Tissues from different origins were analyzed: lymph nodes (n = 24), spleen (n = 3), digestive biopsy (n = 3), tonsils (n = 3), and skin (n = 2). Interphase FISH was performed either on touch preparations (n = 11) and frozen (n = 9) or paraffin sections (n = 15). FISH analysis detected t(11;14) in 34/35 cases (97%) and demonstrated a recurrent CCND1 amplification in t(11;14)+ nuclei of the three blastoid MCL variants of our series. Genomic PCR analysis, hampered by the scattering of 11q13 breakpoints, was positive in only 13/35 cases (37%). RT-PCR analysis was applicable on nonepithelial tissues (27/35) and showed cyclin D1 transcript overexpression in all tested cases (27/35). IHC for cyclin D1 protein was performed either on frozen (n = 12) or on paraffin sections (n = 23), and its sensitivity was higher on paraffin sections (91%) than on frozen sections (25%). A cyclin D1 protein immunoreactivity was observed in 24/35 cases (69%). Our study emphasizes on the use of FISH analysis for the direct detection of t(11;14) because its applicability and sensitivity largely exceeded those of other techniques. It may also provide some informations on secondary cytogenetic changes of potential clinical relevance.</abstract><cop>New York</cop><pub>Elsevier Inc</pub><pmid>12011256</pmid><doi>10.1038/modpathol.3880556</doi><tpages>9</tpages><oa>free_for_read</oa></addata></record> |
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| subjects | Antigens, CD20 - analysis Blotting, Southern CCND1 CD5 Antigens - analysis Chromosomes, Human, Pair 11 - genetics Chromosomes, Human, Pair 14 - genetics Cyclin D1 Cyclin D1 - analysis Cyclin D1 - genetics DNA, Neoplasm - genetics FISH Humans Immunohistochemistry In Situ Hybridization, Fluorescence Laboratory Medicine Lymphoma, Mantle-Cell - genetics Lymphoma, Mantle-Cell - metabolism Lymphoma, Mantle-Cell - pathology Mantle cell lymphoma Medicine Medicine & Public Health original-article Pathology PCR Polymerase Chain Reaction Reverse Transcriptase Polymerase Chain Reaction RNA, Messenger - genetics RNA, Messenger - metabolism RT-PCR t(11 14)(q13 q32) Translocation, Genetic |
| title | A Comparative Analysis of FISH, RT-PCR, PCR, and Immunohistochemistry for the Diagnosis of Mantle Cell Lymphomas |
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