Presence of t(14;18) translocation in healthy individuals varies according to ethnic background in the Brazilian population

Levy, Débora; Bertoldi, Ester Risério Matos; Ruiz, Jorge L.M.; Pereira, Juliana; Bydlowski, Sérgio Paulo

doi:10.1590/1414-431x20176172

Cited by 6 publications

(7 citation statements)

References 14 publications

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“…It is unclear if these statistics still hold because the data were obtained almost two decades ago. Over 90% (68/70 people) of Brazilians of Japanese descent harbor t(14;18) cells, and 53% of Caucasians in this series harbored t(14;18) cells in their peripheral blood, which is very similar to previous findings . Thus, the exact proportion of the Japanese population with t(14;18) cells must be further examined.…”

Section: Conclusion and Open Questionssupporting

confidence: 86%

“…We have described a new clinical entity-namely, duodenaltype FL. Although patients' clinical course has been clarified, long-term outcome is uncertain because even the longest followed-up cases have not reached 20 years, and only 37 and 53% of Caucasians in this series harbored t(14;18) cells in their peripheral blood, which is very similar to previous findings. 35 Thus, the exact proportion of the Japanese population with t(14;18) cells must be further examined.…”

Section: Conclusion and Open Questionssupporting

confidence: 79%

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Recent progress in follicular lymphoma in Japan and characteristics of the duodenal type

Yoshino

Takata

Tanaka

et al. 2018

Pathology International

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The incidence of lymphoma has rapidly increased over the last 40 years in Japan, following a trend that is very similar to that of breast cancer. In particular, the relative frequency of follicular lymphoma (FL) has reached that in Western countries. Given its indolence, a “watch‐and‐wait” approach is often applied to FL patients. We have shown that FL is often detected in the second portion of the duodenum and has a distinct follicular dendritic cell distribution and heavy chain variable usage similar to mucosa‐associated lymphoid tissue (MALT) lymphoma. Although the t(14;18)(q32;q21) frequency is the same as in the nodal subtype of FL, there are also ongoing mutations, immunopositivity for cluster of differentiation 10 and B‐cell lymphoma (BCL)6, and overexpression of BCL2. Gene expression profiling has shown that it is more similar to gastric MALT lymphoma than to nodal FL. Duodenal‐type FL lacks the activation‐induced cytidine deaminase (AID) expression observed in nodal ones, although this may be compensated for by BTB domain and CNC homolog 2. Based on these findings, duodenal‐type FL has been included in the Revised 4th edition of the World Health Organization classification published in late 2017.

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Section: Conclusion and Open Questionssupporting

confidence: 86%

Section: Conclusion and Open Questionssupporting

confidence: 79%

Recent progress in follicular lymphoma in Japan and characteristics of the duodenal type

Yoshino

Takata

Tanaka

et al. 2018

Pathology International

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“…Interestingly, t(14;18) translocation in the peripheral blood was found in 53% (45/85) of white individuals, 79% (57/72) of black individuals, and 97% (68/70) of Japanese-descent. 15 Therefore, further validation is needed to determine whether the difference in the incidence of t(14;18)-positive cells in peripheral blood explains the different incidences of manifested FL across international populations.…”

Section: T(14;18)-positive Cells In Peripheral Blood Of Otherwise Hea...mentioning

confidence: 99%

“…These t(14;18)-positive B cells exist at very low frequency in peripheral blood approximately ranging from 1 × 10 -6 to 1 × 10 -2 , as quantified by quantitative PCR. 5,[8][9][10][11][12][13][14][15] Of note, a study investigated the distribution of t(14;18)-positive cells with a cell sorter and showed that the positive cells are more enriched in IgM memory (median: 380 × 10 -6 ) than in antigen-naive (median: 16 × 10 -6 ) or switched memory (median: 5 × 10 -6 ) B cells. 16 This finding demonstrated that t(14;18) is generated during early B cell development in bone marrow and that affected cells may mature and expand in GCs.…”

Section: T(14;18)-positive Cells In Peripheral Blood Of Otherwise Hea...mentioning

confidence: 99%

Precursory or early lesions of follicular lymphoma: clinical features, pathology, and genetics

Oishi

2023

J Clin Exp Hematopathol

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Follicular lymphoma (FL) is an indolent B-cell lymphoma with a germinal center (GC) B cell phenotype that typically harbors t(14;18)(q32;q21). t(14;18) juxtaposes IGH on 14q32 and BCL2 on 18q21, resulting in overexpression of the anti-apoptotic BCL2 protein. However, t(14;18) is also found in the peripheral blood or lymphoid nodes (LNs) of otherwise healthy individuals. Moreover, overt FL has several additional gene alterations involved in epigenetic modification, JAK/STAT signaling, immune modulation, and NF-κB signaling, indicating multi-step lymphomagenesis in FL. There are two early or precursory lesions of FL: t(14;18)-positive cells in the peripheral blood of otherwise healthy individuals and in situ follicular B-cell neoplasm (ISFN). t(14;18)-positive cells are found in 10%–50% of healthy populations, and their incidence and frequency increase with age. The detection of t(14;18) in peripheral blood is a predictive factor for an increased risk of overt FL development. In contrast, ISFN is a histopathologically recognizable precursory lesion, in which t(14;18)-positive cells are confined to the GC of otherwise reactive LNs. ISFN is usually detected incidentally, with an incidence ranging from 2.0% to 3.2%. Occasional ISFN cases have concurrent or metachronous clonally related overt FL or aggressive B-cell lymphoma of a GC phenotype. t(14;18)-positive cells in peripheral blood and isolated ISFN, by themselves, are asymptomatic with limited clinical significance; however, investigations of t(14;18)-positive precursory or early lesions offer meaningful insights into the pathogenesis of FL. This review summarizes the epidemiology, clinical features, pathology, and genetics of precursory or early lesions of FL.

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“…For example, in 50-60% of healthy adults, the translocation bcl2/IgH was registered, and in 2% − the translocation c-myc/IgH. The proto-oncogene product Bcl2 suppresses the apoptosis, and the protein Myc is a transcriptional factor regulating expression of 15% genes (Levy et al, 2017).…”

Section: Introductionmentioning

confidence: 99%

Non-accidental structural chromosome aberrations in established monkey B-lymphocyte cell lines

Araviashvili¹,

Chzhu²,

Marinich³

et al. 2020

biologija

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Established primate lymphocyte cell lines obtained from tumour samples and from EBV-positive monkeys served us as the model system for studying the role of genetic factors and chromosomal abnormalities in malignization. The investigation of chromosome regions and genes involved in chromosomal aberrations leading to malignization in these lines was the aim of our work. Cytogenetic analysis was performed at different stages of cultivation in vitro. To determine the oncogenes and tumour suppressor genes located on aberrant chromosomes, data on mapping rhesus macaque genes, and high similarity of human and monkey karyotypes were used. We found that, in the line obtained from lymphomatous baboon tissue, the inactivation of tumour suppressor gene RB1 on chromosome 17 after chromosomal rearrangement is one of the most probable causes of in vivo malignization. Chromosomal aberrations at the region of oncogene c-Ki-ras and tumour suppressor gene TP53 change the proliferative status and differentiation in established cell lines obtained from healthy but EBV-seropositive primates. The other cause of malignization in these lines is an increase in expression of the oncogene c-myc caused by trisomy of chromosome 8 where c-myc is located. Structural aberrations in established primate cell lines affecting several chromosomal loci were identified as: (1) causing the proto-oncogene activation – the central event in the tumour clone occurrence, and (2) deactivating tumour suppressor genes. The change in the chromosome number leads to increase in oncogenic products and to damage of regulatory functions associated with cell proliferation.

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Presence of t(14;18) translocation in healthy individuals varies according to ethnic background in the Brazilian population

Cited by 6 publications

References 14 publications

Recent progress in follicular lymphoma in Japan and characteristics of the duodenal type

Recent progress in follicular lymphoma in Japan and characteristics of the duodenal type

Precursory or early lesions of follicular lymphoma: clinical features, pathology, and genetics

Non-accidental structural chromosome aberrations in established monkey B-lymphocyte cell lines

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