t(14;22)(q32;q11) in non‐Hodgkin lymphoma and myeloid leukaemia: molecular cytogenetic investigations

Aamot, Hege Vangstein; Bjørnslett, Merete; Delabie, Jan; Heim, Sverre

doi:10.1111/j.1365-2141.2005.05688.x

Cited by 8 publications

(8 citation statements)

References 22 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…Certain patients were studied at diagnosis and during follow-up; thus, they may appear twice. (25) and another was identified in our series (patient 21). Although the mechanism of neoplastic transformation remains unknown, one cannot exclude that a nearby gene may be involved.…”

Section: Frequency and Distribution Of Ig Translocationsmentioning

confidence: 57%

Immunoglobulin gene translocations in chronic lymphocytic leukemia: A report of 35 patients and review of the literature

Braekeleer

Tous

Guéganic

et al. 2016

Molecular and Clinical Oncology

View full text Add to dashboard Cite

Abstract. Chronic lymphocytic leukemia (CLL) represents the most common hematological malignancy in Western countries, with a highly heterogeneous clinical course and prognosis. Translocations involving the immunoglobulin (IG) genes are regularly identified. From 2000 to 2014, we identified an IG gene translocation in 18 of the 396 patients investigated at diagnosis (4.6%) and in 17 of the 275 analyzed during follow-up (6.2%). A total of 4 patients in whom the IG translocation was identified at follow-up did not carry the translocation at diagnosis. The IG heavy locus (IGH) was involved in 27 translocations (77.1%), the IG κ locus (IGK) in 1 (2.9%) and the IG λ locus (IGL) in 7 (20.0%). The chromosome band partners of the IG translocations were 18q21 in 16 cases (45.7%), 11q13 and 19q13 in 4 cases each (11.4% each), 8q24 in 3 cases (8.6%), 7q21 in 2 cases (5.7%), whereas 6 other bands were involved once (2.9% each). At present, 35 partner chromosomal bands have been described, but the partner gene has solely been identified in 10 translocations. CLL associated with IG gene translocations is characterized by atypical cell morphology, including plasmacytoid characteristics, and the propensity of being enriched in prolymphocytes. The IG heavy chain variable region (IGHV) mutational status varies between translocations, those with unmutated IGHV presumably involving cells at an earlier stage of B-cell lineage. All the partner genes thus far identified are involved in the control of cell proliferation and/or apoptosis. The translocated partner gene becomes transcriptionally deregulated as a consequence of its transposition into the IG locus. With the exception of t(14;18)(q32;q21) and its variants, prognosis appears to be poor for the other translocations.Therefore, searching for translocations involving not only IGH, but also IGL and IGK, by banding and molecular cytogenetics is required. Furthermore, it is important to identify the partner gene to ensure the patients receive the optimal treatment.

show abstract

Section: Frequency and Distribution Of Ig Translocationsmentioning

confidence: 57%

Immunoglobulin gene translocations in chronic lymphocytic leukemia: A report of 35 patients and review of the literature

Braekeleer

Tous

Guéganic

et al. 2016

Molecular and Clinical Oncology

View full text Add to dashboard Cite

show abstract

“…2 and 3 ). Translocations between IGH and either of the two light chain loci have been reported in B cells and their associated disorders: IGL / IGH translocations have been reported in non-Hodgkin lymphoma 37 and in activated B cells 38 where it was suggested that the translocations resulted from deficiencies in non-homologous end-joining that induced both V(D)J-recombination-associated breaks at the IGL locus and class switch recombination-associated IGH breaks. The authors speculated that, since the translocations conferred no obvious selective advantage, these translocations simply reflected the mechanistic opportunity presented by two frequently-broken and spatially-proximal loci 38 .…”

Section: Discussionmentioning

confidence: 99%

A multiple myeloma-specific capture sequencing platform discovers novel translocations and frequent, risk-associated point mutations in IGLL5

White

Lanc

O’Neal

et al. 2018

Blood Cancer Journal

View full text Add to dashboard Cite

Multiple myeloma (MM) is a disease of copy number variants (CNVs), chromosomal translocations, and single-nucleotide variants (SNVs). To enable integrative studies across these diverse mutation types, we developed a capture-based sequencing platform to detect their occurrence in 465 genes altered in MM and used it to sequence 95 primary tumor-normal pairs to a mean depth of 104×. We detected cases of hyperdiploidy (23%), deletions of 1p (8%), 6q (21%), 8p (17%), 14q (16%), 16q (22%), and 17p (4%), and amplification of 1q (19%). We also detected IGH and MYC translocations near expected frequencies and non-silent SNVs in NRAS (24%), KRAS (21%), FAM46C (17%), TP53 (9%), DIS3 (9%), and BRAF (3%). We discovered frequent mutations in IGLL5 (18%) that were mutually exclusive of RAS mutations and associated with increased risk of disease progression (p = 0.03), suggesting that IGLL5 may be a stratifying biomarker. We identified novel IGLL5/IGH translocations in two samples. We subjected 15 of the pairs to ultra-deep sequencing (1259×) and found that although depth correlated with number of mutations detected (p = 0.001), depth past ~300× added little. The platform provides cost-effective genomic analysis for research and may be useful in individualizing treatment decisions in clinical settings.

show abstract

“…In cases 1, 2, and 3, standard cytogenetic observations are given first, followed by the FISH results after “,ish.” FISH probes used are presented in Table S1. t(14;22)(q32;q11) was described by Aamot et al…”

Section: Resultsmentioning

confidence: 99%

Diffuse large B‐cell lymphoma carrying t(9;14)(p13;q32)/PAX5‐immunoglobulin heavy chain gene is characterized by nuclear positivity of MUM1 and PAX5 by immunohistochemistry

Ohno

Nakagawa

Kishimori

et al. 2020

Hematological Oncology

View full text Add to dashboard Cite

We described four patients with diffuse large B‐cell lymphoma (DLBCL) carrying t(9;14)(p13;q32) that places the PAX5 adjacent to the immunoglobulin heavy chain (IGH) gene. Ages ranged between 63 and 80, and three were female. One developed a nodal disease, and the other three involved extranodal organs. The lymphoma cells were CD10−/BCL6−/MUM1+ in three and CD10+/BCL6+/MUM1+ in one. BCL2 was weak or negative. All had t(9;14)(p13;q32), and three had additional 14q32/IGH translocations or +der(14)t(9;14)(p13;q32). Fluorescence in situ hybridization using the PAX5 break‐apart probe showed that the locus was disrupted between the 5′ and 3′ probes or within the 5′ probe. Immunohistochemistry (IHC) using a monoclonal antibody against PAX5 showed strong nuclear positivity in all four patients. Cell block IHC of a CD30+ DLBCL cell line, KIS‐1, which carried the t(9;14)(p13;q32) and PAX5‐IGH fusion gene, reproduced the CD10−/BCL6−/MUM1+ immunophenotype, low‐level BCL2, and strong nuclear PAX5. Uniform nuclear positivity of MUM1 in all four cases and KIS‐1 cells suggest that these lymphomas arose at a late stage of B‐cell differentiation, where expression of PAX5 physiologically becomes downregulated. It is therefore possible that high‐level PAX5 resulting from t(9;14)(p13;q32) at this stage of differentiation perturbs the plasma cell differentiation program initiated by PAX5 repression, thereby contributing to the development of a fraction of DLBCL.

show abstract

t(14;22)(q32;q11) in non‐Hodgkin lymphoma and myeloid leukaemia: molecular cytogenetic investigations

Cited by 8 publications

References 22 publications

Immunoglobulin gene translocations in chronic lymphocytic leukemia: A report of 35 patients and review of the literature

Immunoglobulin gene translocations in chronic lymphocytic leukemia: A report of 35 patients and review of the literature

A multiple myeloma-specific capture sequencing platform discovers novel translocations and frequent, risk-associated point mutations in IGLL5

Diffuse large B‐cell lymphoma carrying t(9;14)(p13;q32)/PAX5‐immunoglobulin heavy chain gene is characterized by nuclear positivity of MUM1 and PAX5 by immunohistochemistry

Contact Info

Product

Resources

About