Detection of t(11;14) using interphase molecular cytogenetics in mantle cell lymphoma and atypical chronic lymphocytic leukemia

Avet‐Loiseau, Hervé; Garand, Richard; Gaillard, Fanny; Daviet, Axelle; Mellerin, Marie-Paule; Robillard, Nelly; Bouyge, Isabelle; Arcot, Santosh S.; Batzer, Mark A.; Talmant, Pascaline; Harousseau, Jean‐Luc; Milpied, Noël; Bataille, Régis

doi:10.1002/(sici)1098-2264(199810)23:2<175::aid-gcc11>3.0.co;2-n

Cited by 55 publications

(44 citation statements)

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“…The diagnosis of MCL first relies on morphological and phenotypical cri- teria but may be problematic when these features overlap with other B-cell lymphomas (6 -8). Therefore, the direct or indirect detection of t (11;14), the cytogenetic hallmark of MCL, has been progressively included among diagnostic criteria (7,8,15,16,18,28,29). The t(11;14) can be directly visualized by conventional cytogenetics or interphase FISH.…”

Section: Discussionmentioning

confidence: 99%

“…Because of the difficulty in obtaining analyzable metaphase spreads, the sensitivity of FISH analysis exceeds that of chromosome analysis (28,34,35). Interphase FISH has been applied for the detection of t (11;14), either on cell suspensions or on isolated nuclei from paraffin-embedded tissues with a 100% sensitivity (8,29).…”

Section: Discussionmentioning

confidence: 99%

“…Karyotype analysis allowed identification of t(11;14)(q13;q32) in only 70 to 75% of MCL, which may be related to the low mitotic index of malignant cells and to the poor morphology of metaphase spreads (9,27). Interphase fluorescence in situ hybridization (FISH) analysis circumvents these difficulties and has allowed the detection of t (11;14) in nearly 100% of MCL cases (8,28,29). Moreover, detection of t (11;14) by interphase FISH was achieved on cell suspensions or on nuclei isolated from fresh-frozen or paraffin-embedded material (8,29).…”

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A Comparative Analysis of FISH, RT-PCR, PCR, and Immunohistochemistry for the Diagnosis of Mantle Cell Lymphomas

et al. 2002

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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.

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Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

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A Comparative Analysis of FISH, RT-PCR, PCR, and Immunohistochemistry for the Diagnosis of Mantle Cell Lymphomas

et al. 2002

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“…The inversion of chromosome 11-inv(11) (p15;q13)-is associated with a substantial increase of cyclin D1 expression in a small fraction of benign parathyroid adenomas, 29 and the t(11;14) translocation-which occurs in most mantle cell lymphoma tumors, in approximately 20% of MM tumors, and sometimes in other kinds of B-cell tumors-results in the ectopic expression of cyclin D1, in contrast to the absence of cyclin D1 expression characteristic of normal B cells and most B-cell tumors lacking this translocation. 5,[19][20][21]46,55 Cyclin D1 gene amplification, mostly with, but sometimes without, overexpression of cyclin D1, occurs in a substantial fraction of nonhematopoietic tumors, including breast adenocarcinomas, head and neck squamous cell carcinomas, esophageal cancers, hepatocellular carcinomas, and others. 29 In some cases, there is overexpression of cyclin D1 without amplification.…”

Section: Discussionmentioning

confidence: 99%

“…1,3,4 Multiple myeloma (MM) is a tumor of postgerminal center, long-lived plasma cells that have been subjected to each of these 3 DNA modification processes. We and others [5][6][7][8][9][10] have determined that IgH translocations occur in most MM tumors and that they involve a promiscuous array of nonrandom chromosomal partners and oncogenes. The 3 most frequent partner loci, each of which is involved in approximately 10% to 20% of MM tumors, include 4p16.3 (FGFR3 and MMSET), 11q13 (cyclin D1), and 16q23 (c-maf).…”

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confidence: 99%

Cyclin D3 at 6p21 is dysregulated by recurrent chromosomal translocations to immunoglobulin loci in multiple myeloma

Shaughnessy

Gabrea

Ying

et al. 2001

Blood

194

109

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IntroductionDysregulation of oncogenes by translocation near a strong enhancer in an immunoglobulin heavy chain (IgH) (14q32) or IgL (, 2p11 or , 22q11) locus represents a critical event in the pathogenesis of B-lymphocyte tumors. 1,2 Primary translocations usually are mediated by errors in 1 of 3 B cell-and stage-specific DNA modification mechanisms that generate double-strand breaks in genomic DNA: VDJ recombination, IgH switch recombination, and somatic hypermutation. 1,3,4 Multiple myeloma (MM) is a tumor of postgerminal center, long-lived plasma cells that have been subjected to each of these 3 DNA modification processes. We and others [5][6][7][8][9][10] have determined that IgH translocations occur in most MM tumors and that they involve a promiscuous array of nonrandom chromosomal partners and oncogenes. The 3 most frequent partner loci, each of which is involved in approximately 10% to 20% of MM tumors, include 4p16.3 (FGFR3 and MMSET), 11q13 (cyclin D1), and 16q23 (c-maf). To gain a more comprehensive insight regarding what kinds of oncogenes are dysregulated by primary immunoglobulin translocations in MM, we have continued to search for additional recurrent translocation partners.Three D-type cyclin genes encode proteins, each of which can interact with the cdk4 or the cdk6 cyclin D-dependent kinases that phosphorylate Rb, thus regulating a process that promotes the G1/S cell cycle transition. 11 Despite differences in expression patterns and in some functional properties, it appears that cyclins D1, D2, and D3 are virtually interchangeable for regulating Rb phosphorylation. [12][13][14] It is well established that dysregulation of cyclin D1 provides a primary oncogenic event in animal models and in various human tumors, including MM. [15][16][17][18][19][20][21][22][23] By contrast, despite overexpression or amplification of cyclins D2 or D3 in some human tumors, there is a paucity of compelling evidence that dysregulation of cyclins D2 or D3 are primary oncogenic events. [24][25][26][27][28][29][30][31] We report here the cytogenetic and molecular characterization of a novel partner locus at 6p21 that is translocated to the IgH or Ig locus in approximately 4% of MM tumors, and identify cyclin D3 as the apparent oncogene that is dysregulated as a consequence of these translocations. Materials and methods ProbesThe CH and CBAC, the VH cosmid probe, the 5Ј and 3Ј switch gamma (S␥) probes, and the cyclin D3 cosmid (ccnd3cy13) probe have been described elsewhere. 8,32,33 The cyclin D3 BAC (RPC11-209e18) was Cell linesThe MM cell lines used to determine the expression of cyclin D messenger RNA (mRNA) and protein included the following, as described previously 6,8,35 : RPMI-8226, ANBL6, ARK, Delta-47, EJM, Flam-76, FR4, H1112, H929, JIM-3, JJN-3, Karpas-620, KMM-1, KMS-12, KMS-18, L363, LP-1, MM.1, MM-S1, OCI-MY5, OPM-2, SKMM-1, SKMM-2, U266, UTMC-2, XG-1, XG-2, XG-5, XG-6, and XG-7. Fluorescence in situ hybridization assaysThree color fluorescence in situ hybridization (FISH) assays of metaphase chromoso...

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Deletion of 5q31 is observed in megakaryocytic cells in patients with myelodysplastic syndromes and a del(5q), including the 5q- syndrome

Godon

Talmant

Garand

et al. 2000

Genes Chromosom. Cancer

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One of the most common structural rearrangements in myelodysplastic syndrome (MDS) is a deletion of the long arm of chromosome 5, del(5q). The 5q‐ syndrome is a distinct entity, that presents with specific morphologic abnormalities of the megakaryocytic lineage. Thus, we evaluated the presence or absence of the del(5q) in these cells. We performed fluorescence in situ hybridization analysis using unique sequence probes (one for 5q31, the other for the 5p telomeric band), and tested bone marrow specimens from 10 patients with MDS (including 6 patients with the 5q‐ syndrome) and a del(5q). Megakaryocytes were identified by nuclear morphology, size, and ploidy index. Our results demonstrate the presence of the del(5q) in the megakaryocytic lineage and, thus, the involvement of these cells in the disease process. © 2000 Wiley‐Liss, Inc.

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Detection of t(11;14) using interphase molecular cytogenetics in mantle cell lymphoma and atypical chronic lymphocytic leukemia

Cited by 55 publications

References 29 publications

A Comparative Analysis of FISH, RT-PCR, PCR, and Immunohistochemistry for the Diagnosis of Mantle Cell Lymphomas

A Comparative Analysis of FISH, RT-PCR, PCR, and Immunohistochemistry for the Diagnosis of Mantle Cell Lymphomas

Cyclin D3 at 6p21 is dysregulated by recurrent chromosomal translocations to immunoglobulin loci in multiple myeloma

Deletion of 5q31 is observed in megakaryocytic cells in patients with myelodysplastic syndromes and a del(5q), including the 5q- syndrome

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