Recurrent loss of the Y chromosome and homozygous deletions within the pseudoautosomal region 1: association with male predominance in mantle cell lymphoma

Nieländer, Inga; Martín‐Subero, José I.; Wagner, Florian; Baudis, Michael; Gesk, Stefan; Harder, Lana; Hasenclever, Dirk; Klapper, Wolfram; Kreuz, Markus; Pott, Christiane; Martínez-Climent, José A.; Dreyling, Martin; Arnold, Norbert; Siebert, Reiner

doi:10.3324/haematol.12656

Cited by 18 publications

(21 citation statements)

References 16 publications

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“…The most frequent structural anomalies found in the present series are mainly losses of 1p, 6q, 8p, 9p, 9q, 11q, 13q, and 17p and gains of 3q and 12q, while trisomies of chromosomes 3 and 12 and monosomies of chromosomes 9, 13 and sex chromosomes are the most common numerical alterations. The frequency of loss of Y chromosome is also in agreement with previous studies (Nielander et al, 2008).…”

Section: Discussionsupporting

confidence: 82%

Incidence and prognostic impact of secondary cytogenetic aberrations in a series of 145 patients with mantle cell lymphoma

Espinet

Salaverría

Beà

et al. 2010

Genes Chromosomes & Cancer

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Mantle cell lymphoma (MCL) is a mature B-cell neoplasm with an aggressive behavior, characterized by the t(11;14)(q13;q32). Several secondary genetic abnormalities with a potential role in the oncogenic process have been described. Studies of large MCL series using conventional cytogenetics, and correlating with proliferation and survival, are scarce. We selected 145 MCL cases at diagnosis, displaying an aberrant karyotype, from centers belonging to the Spanish Cooperative Group for Hematological Cytogenetics. Histological subtype, proliferative index and survival data were ascertained. Combined cytogenetic and molecular analyses detected CCND1 translocations in all cases, mostly t(11;14)(q13;q32). Secondary aberrations were present in 58% of patients, the most frequent being deletions of 1p, 13q and 17p, 10p alterations and 3q gains. The most recurrent breakpoints were identified at 1p31-32, 1p21-22, 17p13, and 1p36. Aggressive blastoid/pleomorphic variants displayed a higher karyotypic complexity, a higher frequency of 1p and 17p deletions and 10p alterations, a higher proliferation index and poor survival. Gains of 3q and 13q and 17p13 losses were associated with reduced survival times. Interestingly, gains of 3q and 17p losses added prognostic significance to the morphology in a multivariate analysis. Our findings confirm previous observations indicating that proliferation index, morphology and several secondary genetic alterations (3q gains and 13q and 17p losses) have prognostic value in patients with MCL. Additionally, we observed that 3q gains and 17p losses detected by conventional cytogenetics are proliferation-independent prognostic markers indicating poor outcome.

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Section: Discussionsupporting

confidence: 82%

Incidence and prognostic impact of secondary cytogenetic aberrations in a series of 145 patients with mantle cell lymphoma

Espinet

Salaverría

Beà

et al. 2010

Genes Chromosomes & Cancer

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“…The P2RY8 promoter has previously been described to be involved in promoter swapping with one of the Sry (sex-determining region Y)-box genes (SOX5) on chromosome 12 in a patient with primary splenic follicular lymphoma. 35 Deletions of the PAR1 region, including CSF2RA and CRLF2, have been reported in mantle cell lymphoma. 35 However, to our knowledge, there are no reports of an acquired, activating chromosomal abnormality within PAR1 in BCP-ALL to date.…”

Section: Discussionmentioning

confidence: 99%

“…35 Deletions of the PAR1 region, including CSF2RA and CRLF2, have been reported in mantle cell lymphoma. 35 However, to our knowledge, there are no reports of an acquired, activating chromosomal abnormality within PAR1 in BCP-ALL to date.…”

Section: Discussionmentioning

confidence: 99%

Deregulated expression of cytokine receptor gene, CRLF2, is involved in lymphoid transformation in B-cell precursor acute lymphoblastic leukemia

Russell

Capasso

Vater

et al. 2009

Blood

448

493

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“…Recent genetic studies propose that MCL may arise from cells with loss of chromosome Y due to an agerelated effect in elderly cells, in combination with the suppression of a tumour suppressor gene on the Xchromosome (Nielander et al 2008).…”

Section: Epidemiologymentioning

confidence: 99%

Diffuse large B‐cell lymphoma and mantle cell lymphoma of the ocular adnexal region, and lymphoma of the lacrimal gland: An investigation of clinical and histopathological features

Rasmussen

2013

Acta Ophthalmologica

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Diffuse large B‐cell lymphoma (DLBCL) and mantle cell lymphoma (MCL) constitute two distinct subtypes of non‐Hodgkin lymphoma (NHL) associated with considerable morbidity and mortality.Marked diversities with regard to molecular biology and clinical features are recognized in different subsets of the two lymphomas. Because these differences could be related to the location of the lymphoma, it is of interest to investigate the clinical and histopathological features of DLBCL and MCL involving the ocular adnexal region (i.e. the orbit, eyelids, conjunctiva, lacrimal gland and lacrimal sac). Similarly, the lacrimal gland is the only glandular structure within the orbit. Because the lacrimal gland represents an important part of the immunological system, it is of interest to investigate lymphomas involving this location with regard to clinical and histological characteristics.Purpose: To characterize the clinical and histopathological features of Danish patients with DLBCL of the ocular adnexal region between 1980 and 2009 and of Danish ocular adnexal MCL patients from 1980 to 2005. Furthermore, the aim of this PhD was to review all specimens from patients with lymphoma of the lacrimal gland in Denmark between 1975 and 2009 to determine the distribution of lymphoma subtypes of the lacrimal gland and to describe the clinicopathological features of these patients.Results: A total of 34 patients with DLBCL and 21 with MCL of the ocular adnexal region were identified. Twenty‐seven patients had lacrimal gland lymphoma, including four DLBCLs and three MCLs from studies I and II.Elderly patients predominated in all three groups, with median ages of 78, 75 and 69 years in the DLBCL, the MCL and the lacrimal gland lymphoma groups, respectively. MCL patients had a preponderance of males, whereas females prevailed among lacrimal gland lymphoma patients. The orbit was the most common site of involvement in DLBCL and MCL. Most DLBCL patients had unilateral involvement, while MCL patients had a high frequency of bilateral involvement. Similarly, localized lymphoma was relatively frequently seen in DLBCL patients in contrast to the predominance of disseminated lymphoma in the MCL group.The majority of lacrimal gland lymphomas were low grade, and the distribution of subtypes was as follows: extranodal marginal zone lymphoma, 10 (37%); follicular lymphoma, 5 (19%); DLBCL, 4 (15%); MCL, 3 (11%); chronic lymphocytic leukaemia/small lymphatic lymphoma, 2 (7%); and unclassified B‐cell lymphoma, 3 (11%).The overall survival rates at 3 and 5 years for the entire study group of DLBCL were 42% and 20%, whereas 58% and 22% of MCL patients were alive 3 and 5 years after the time of diagnosis. The 5‐year overall survival rate of lacrimal gland lymphoma patients was 70%.Concordant bone marrow involvement and the International Prognostic Index score were predictive factors for the overall survival in the DLBCL group in Cox regression analysis. Rituximab‐containing chemotherapy was associated with an improved survival rate in MCL patients.Conclusions: Diffuse large B‐cell lymphoma and MCL involving the ocular adnexal region and lymphoma of the lacrimal gland are prevalent among elderly patients. The overall prognosis in DLBCL and MCL was poor, whereas the prognosis for lacrimal gland lymphoma patients was relatively good. Concordant bone marrow involvement and the International Prognostic Index score were independent predictive factors for mortality in the DLBCL group. Chemotherapy containing rituximab significantly improved survival in the MCL group.

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Recurrent loss of the Y chromosome and homozygous deletions within the pseudoautosomal region 1: association with male predominance in mantle cell lymphoma

Cited by 18 publications

References 16 publications

Incidence and prognostic impact of secondary cytogenetic aberrations in a series of 145 patients with mantle cell lymphoma

Incidence and prognostic impact of secondary cytogenetic aberrations in a series of 145 patients with mantle cell lymphoma

Deregulated expression of cytokine receptor gene, CRLF2, is involved in lymphoid transformation in B-cell precursor acute lymphoblastic leukemia

Diffuse large B‐cell lymphoma and mantle cell lymphoma of the ocular adnexal region, and lymphoma of the lacrimal gland: An investigation of clinical and histopathological features

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