Lack of PAX5 rearrangements in lymphoplasmacytic lymphomas: reassessing the reported association with t(9;14)1 1These studies were performed in the University of Pittsburgh Cancer Institute Cytogenetics Facility.

Cook, James R.; Aguilera, Nadine Ives; Reshmi-Skarja, Shalini; Huang, Xin; Yu, Zhisheng; Gollin, Susanne M.; Abbondanzo, Susan L.; Swerdlow, Steven H.

doi:10.1016/j.humpath.2003.10.014

Cited by 56 publications

(7 citation statements)

References 24 publications

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“…We found no evidence of PAX5 gene rearrangements, suggesting t(9;14) and PAX5 translocations are uncommon events in these types of lymphomas. These results confirm recent reports [1][2][3] that found a lack of t(9;14) in LPL. Cook and colleagues 1 examined a series of 14 previously published cases of nodal or other extramedullary LPLs using a novel BAC contig probe for PAX5 and an IgH dual-color, break-apart probe (Vysis), and investigated for the presence of t(9;14) using paraffin section interphase FISH.…”

Section: Discussionsupporting

confidence: 93%

“…Recent studies [1][2][3] have called into question the association of t(9;14)(p13;q32) and lymphoplasmacytic lymphoma (LPL), both medullary (ie, Waldenströ m's macroglobulinemia) and extramedullary. Initially described in a CD30-positive diffuse large B-cell lymphoma cell line, KIS-1, 4 this translocation involves the paired homeobox-5 (PAX5) gene at 9p13 and the immunoglobulin heavy chain (IgH) gene at 14q32.…”

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confidence: 99%

“…In reviewing previous reports of t(9;14)(p13;q32) in the literature, as concisely summarized by Cook and colleagues, 1 only 2 of 20 cases were classified as LPL using World Health Organization criteria. 6 The remaining cases had a variety of diagnoses including plasmacytoid small lymphocytic lymphoma, diffuse large noncleaved cell lymphoma, splenic marginal zone lymphoma, diffuse large B-cell lymphoma, follicular mixed lymphoma, ␣-heavy chain disease, plasma cell leukemia, and primary effusion lymphoma.…”

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confidence: 99%

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Low-Grade B-Cell Lymphomas With Plasmacytic Differentiation Lack PAX5 Gene Rearrangements

George

Wrede

Bangs

et al. 2005

The Journal of Molecular Diagnostics

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The chromosomal translocation t(9;14)(p13;q32) has been reported in association with lymphoplasmacytic lymphoma (LPL). Although this translocation involving the paired homeobox-5 (PAX5) gene at chromosome band 9p13 and the immunoglobulin heavy chain (IgH) gene at 14q32 has been described in ϳ50% of LPL cases, the actual number of cases studied is quite small. Many of the initial cases associated with t(9;14)(p13;q32) were actually low-grade B-cell lymphomas with plasmacytic differentiation other than LPL. Thus, we analyzed a series of low-grade B-cell lymphomas for PAX5 gene rearrangements. We searched records from the Department of Pathology, Stanford University Medical Center for low-grade Bcell lymphomas, with an emphasis on plasmacytic differentiation, that had available paraffin blocks or frozen tissue. We identified 37 cases, including 13 LPL, 18 marginal zone lymphomas (nodal, extranodal, splenic, and ␣-heavy chain disease), and 6 small lymphocytic lymphomas. A novel dual-color breakapart bacterial artificial chromosome probe was designed to flank the PAX5 gene, spanning previously described PAX5 breakpoints, and samples were analyzed by interphase fluorescence in situ hybridization. All cases failed to demonstrate a PAX5 translocation, indicating that t(9;14)(p13;q32) and other PAX5 translocations are uncommon events in lowgrade B-cell lymphomas with plasmacytic differentiation. This study also confirms recent reports that found an absence of PAX5 rearrangements in LPL, suggesting the reassessment of PAX5 rearrangements in LPL. Recent studies 1-3 have called into question the association of t(9;14)(p13;q32) and lymphoplasmacytic lymphoma (LPL), both medullary (ie, Waldenströ m's macroglobulinemia) and extramedullary. Initially described in a CD30-positive diffuse large B-cell lymphoma cell line, 4 this translocation involves the paired homeobox-5 (PAX5) gene at 9p13 and the immunoglobulin heavy chain (IgH) gene at 14q32.5 After its initial characterization, further studies found the t(9;14)(p13;q32) associated with LPL.

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Section: Discussionsupporting

confidence: 93%

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confidence: 99%

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confidence: 99%

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Low-Grade B-Cell Lymphomas With Plasmacytic Differentiation Lack PAX5 Gene Rearrangements

George

Wrede

Bangs

et al. 2005

The Journal of Molecular Diagnostics

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“…19,27 The detailed morphologic features of nodal LPL have been previously investigated. 3,5,26,27 The most characteristic nodal pattern of LPL consists of a partially preserved architecture with patent sinuses and an expansion by small lymphocytes and plasma cells, wherein plasma cells usually represent a minority of the cellularity. Cases with this pattern are highly associated with bone marrow involvement and an IgM paraprotein.…”

Section: Discussionmentioning

confidence: 99%

Gamma Heavy-chain Disease

Bieliauskas

Tubbs

Bacon

et al. 2012

American Journal of Surgical Pathology

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Gamma heavy-chain disease (gHCD) is defined as a lymphoplasmacytic neoplasm that produces an abnormally truncated immunoglobulin gamma heavy-chain protein that lacks associated light chains. There is scant information in the literature regarding the morphologic findings in this rare disorder, but cases have often been reported to resemble lymphoplasmacytic lymphoma (LPL). To clarify the spectrum of lymphoproliferative disorders that may be associated with gHCD, this study reports the clinical, morphologic, and phenotypic findings in 13 cases of gHCD involving lymph nodes (n = 7), spleen (n = 2), bone marrow (n = 8), or other extranodal tissue biopsies (n = 3). Clinically, patients showed a female predominance (85%) with frequent occurrence of autoimmune disease (69%). Histologically, 8 cases (61%) contained a morphologically similar neoplasm of small lymphocytes, plasmacytoid lymphocytes, and plasma cells that was difficult to classify with certainty, whereas the remaining 5 cases (39%) showed the typical features of one of several other well-defined entities in the 2008 WHO classification. This report demonstrates that gHCD is associated with a variety of underlying lymphoproliferative disorders but most often shows features that overlap with cases previously reported as “vaguely nodular, polymorphous” LPL. These findings also provide practical guidance for the routine evaluation of small B-cell neoplasms with plasmacytic differentiation that could represent a heavy-chain disease and give suggestions for an improved approach to the WHO classification of gHCD.

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“…Two large series investigating the presence of t(9;14)(p13;q32) by FISH using combinations of PAX5-and Hematoxylin-and eosin-stained section corresponding to the middle is shown in the right IgH-specific probes failed to demonstrate the rearrangement in lymphoma tissues of LPL or low-grade B-cell lymphomas with plasmacytic differentiation [14,15]. On the other hand, the translocation has been identified in multiple myeloma, plasma cell leukemia, chronic lymphocytic leukemia, splenic marginal zone lymphoma, and post-transplantation DLBCL [16][17][18][19][20], indicating that t(9;14)(p13;q32) is not restricted to a specific tumor subtype and occurs in both immunocompetent and immunocompromised settings.…”

Section: Discussionmentioning

confidence: 99%

Epstein–Barr virus-positive diffuse large B-cell lymphoma carrying a t(9;14)(p13;q32) translocation

et al. 2009

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We, herein, report a 75-year-old man with lymphoma who initially presented with disseminated disease involving the lung, followed by temporal regression, and finally died of disease progression. Lymph-node biopsy showed a morphology of diffuse large B-cell lymphoma (DLBCL), containing CD30(+) Reed-Sternberg-like cells. The lymphoma cells were stained by in situ hybridization (ISH) for Epstein-Barr virus (EBV)-encoded RNA, and the presence of the EBV genome was confirmed by the polymerase chain reaction. A cytogenetic study showed that the lymphoma cells carried a t(9;14)(p13;q32) translocation, and rearrangement of the PAX5 gene was determined by fluorescence ISH using a split signal probe. This case report is the first to identify t(9;14)(p13;q32) in EBV(+) DLBCL of the elderly, which was very recently listed among subtypes of DLBCL.

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Lack of PAX5 rearrangements in lymphoplasmacytic lymphomas: reassessing the reported association with t(9;14)1 1These studies were performed in the University of Pittsburgh Cancer Institute Cytogenetics Facility.

Cited by 56 publications

References 24 publications

Low-Grade B-Cell Lymphomas With Plasmacytic Differentiation Lack PAX5 Gene Rearrangements

Low-Grade B-Cell Lymphomas With Plasmacytic Differentiation Lack PAX5 Gene Rearrangements

Gamma Heavy-chain Disease

Epstein–Barr virus-positive diffuse large B-cell lymphoma carrying a t(9;14)(p13;q32) translocation

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