Trisomy 12 is a rare cytogenetic finding in typical chronic lymphocytic leukemia

Woessner, S; Solé, Françesc; Pérez-Losada, A.; Florensa, Lourdes; Vilà, R M

doi:10.1016/0145-2126(96)84956-3

Cited by 17 publications

(6 citation statements)

References 10 publications

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“…There is an interesting parallel with the situation in leukaemia, where the main type linked with radiation exposure, chronic myeloid leukaemia, is associated with an abnormal karyotype with a 9:22 translocation in virtually every case, while in chronic lymphatic leukaemia, not known to be related to exposure to radiation the majority of typical cases lack any detectable karyotypic abnormality (Woessner et al, 1996).…”

Section: mentioning

confidence: 96%

Gene rearrangement and Chernobyl related thyroid cancers

et al. 2000

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The increase in thyroid carcinoma post-Chernobyl has been largely confined to a specific subtype of papillary carcinoma (solid/follicular). This subtype is observed predominantly in children under 10 in unirradiated populations, but maintains a high frequency in those aged 10–15 from those areas exposed to fallout from the Chernobyl accident. The aim of this study was to link morphology with molecular biology. We examined 106 papillary carcinomas from children under the age of 15 at operation. All were examined for rearrangements of the RET oncogene by reverse transcription polymerase chain reaction (RT-PCR); a subset of these cases were also examined for mutations of the three ras oncogenes, exon 10 of the thyroid stimulating hormone receptor, associated more usually with a follicular rather than papillary morphology, and exons 5, 6, 7 and 8 of the p53 gene, commonly involved in undifferentiated thyroid carcinoma. Rearrangements of the RET oncogene were found in 44% of papillary carcinomas in which we studied fresh material; none of the tumours examined showed mutation in any of the other genes. The two rearrangements resulting from inversion of part of chromosome 10 (PTC1 and PTC3) accounted for the majority of RET rearrangements identified, with PTC1 being associated with papillary carcinomas of the classic and diffuse sclerosing variants and PTC3 with the solid/follicular variant. © 2000 Cancer Research Campaign

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Section: mentioning

confidence: 96%

Gene rearrangement and Chernobyl related thyroid cancers

et al. 2000

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“…There have been a number of studies documenting the association between CLL/PL and atypical CLL with the presence of trisomy 12, advanced clinical stages and a higher proliferative rate, while 13q deletions as a single abnormality in atypical CLL are rare (20, 23–25). Atypical morphology has also been reported in CLL cases with t(14;19) involving the Bcl‐3 gene.…”

Section: Morphologymentioning

confidence: 99%

Morphological and Immunophenotypic Features of Chronic Lymphocytic Leukemia

Matutes

Polliack²

2000

Rev Clin Exp Hematol

109

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In this review, we summarize the morphological features and immunophenotypic profile of chronic lymphocytic leukemia (CLL) cells, discuss the value of these investigations as front line diagnostic tests, and emphasize their correlation with the clinical features, disease progression, molecular genetics and pathogenesis of CLL. In CLL, the morphology of the circulating cells is characteristic and typical in the majority of cases. However, 15% of patients, either at diagnosis or during the course of the disease, show atypical morphology reflected by either (1) an increased (> 10%) number of circulating prolymphocytes, designated CLL/PL, or (2) an increased (> 15%) number of circulating lymphoplasmacytic and cleaved cells, designated 'atypical' CLL. There is strong evidence of a close association between atypical morphology (CLL/PL) and atypical (CLL) and clinical features, e.g. disease progression, advanced stage and survival, molecular genetics, particularly trisomy 12, but also the rare cases with t(11;14) or t(14;19), p53 abnormalities, unmutated immunoglobulin (Ig) VH genes and origin of the cell (naive, pregerminal center cell). CLL cells have a distinct immunological repertoire different from that of other lymphoproliferative disorders. The typical CLL phenotype is CD5+, CD23+, FMC7-, weak expression of surface Ig (sIg) and weak or absent expression of membrane CD22 and CD79b. The latter marker identifies an extracellular epitope of the B-cell receptor (BCR) beta chain and its weak or absent expression in CLL may derive from the expression of a truncated form. This, together with the low expression of CD22, might explain the abnormal signal transduction of CLL cells similar to that of anergic B lymphocytes. Because no single marker is specific for CLL, a composite phenotype considering this set of 5 or 6 markers compounded into a scoring system helps to distinguish CLL from the other B-cell malignancies. Immunophenotypic analysis has also been shown to be useful for minimal residual disease detection and adds valuable prognostic information because the expression of certain markers, such as FMC7 or CD38, seems to be associated with a poor outcome. In addition, CLL cells express a variety of Bcl-2 family proteins with a profile that favors inhibition of apoptosis which, together with the interaction with microenvironmental (e.g. stromal) cells and the release of cytokines, explains the long life span and subsequent accumulation of CLL cells in various organs. Despite controversies relating to the expression of adhesion molecules (selectins and integrins) in CLL cells, it appears that some of these molecules do play a role in the pathogenesis, biology and clinical patterns of the disease. In conclusion, morphology and immunophenotype are the two essential investigations, which must be carried out in all cases of CLL. Both provide relevant information in terms of diagnosis, course of the disease, prognosis and pathogenesis.

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“…Matutes and Polliack later defined the mixed‐cell type as >15% lymphoplasmacytoid cells, cells exhibiting nuclear indentations/clefts, or both with prolymphocytes accounting for <10% of cells. The reported prevalence of aCLL varies from 10% to 36% . The 2008 WHO classification of lymphoid neoplasms states that in aCLL, lymphocytes show less condensed nuclear chromatin and nuclear irregularities and that these findings occur more often in patients with trisomy 12 and other chromosomal abnormalities .…”

Section: Introductionmentioning

confidence: 99%