Trisomy 12 and p53 deletion in chronic lymphocytic leukemia detected by fluorescence in situ hybridization: Association with morphology and resistance to conventional chemotherapy

Cano, Isabel; Martínez, J. Larrauri; Quevedo, E; Pinilla, Javier; Martin-Recio, A.; Rodríguez, Antonio E. Pérez; Castañeda, Alex; López, R.; Pérez-Piño, T.; Hernández-Navarro, Fernando

doi:10.1016/s0165-4608(96)00063-5

Cited by 27 publications

(23 citation statements)

References 33 publications

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“…GG patients displayed a 53.1% increase in probability of presenting with splenomegaly. Other variables associated with splenomegaly were deletions in chromosomes 11 and 17 and male sex, again in agreement with independent studies [29][30][31] (Table 5).…”

Section: The G Allele Is Associated With Cll Patients Carrying Molecusupporting

confidence: 91%

CD38 gene polymorphism and chronic lymphocytic leukemia: a role in transformation to Richter syndrome?

Aydin

Rossi

Bergui

et al. 2008

Blood

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CD38 rules proliferation signals in chronic lymphocytic leukemia (CLL) cells, suggesting that the molecule is not merely a prognostic marker but also a key element in the pathogenetic network underlying the disease. CD38 has a genetic polymorphism, characterized by a C>G variation in the regulatory region of intron 1. The working hypothesis is that the presence of different alleles in CLL patients marks (or accounts for) some of the clinical heterogeneity. CD38 allele distribution in 248 Italian patients overlapped with that of the controls (n ‫؍‬ 232), suggesting that susceptibility to CLL is not influenced by CD38 genotype. Stratification of patients according to markers of unfavorable prognosis constantly resulted in a significantly higher frequency of the rare G allele. Furthermore, analysis of clinical parameters showed that G allele is independently associated with nodal/splenic involvement. The highest G allele frequency was observed in the 16 patients of the cohort that developed Richter syndrome (RS). Five-year cumulative incidence of transformation was significantly higher in G allele carriers than in CC homozygotes. Multivariate analysis on a total of 30 RS patients confirmed that the probability of transformation is strongly associated with G allele, likely representing an independent risk factor for RS development. (Blood. 2008;111:5646-5653)

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Section: The G Allele Is Associated With Cll Patients Carrying Molecusupporting

confidence: 91%

CD38 gene polymorphism and chronic lymphocytic leukemia: a role in transformation to Richter syndrome?

Aydin

Rossi

Bergui

et al. 2008

Blood

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“…These unexpected findings in the trisomic cases could be explained by TPA stimulating capacity or by technical problems which may affect the proliferation of neoplastic trisomic CLL cells during cultivation. 13 According to the present study including not only four but six loci, this effect may be restricted to trisomy 12 positive CLL cells.…”

Section: Discussionmentioning

confidence: 56%

“…In the literature, there are reports indicating for differences in detection rates, depending on the used material. 13,15,16 In case of "iFISH-aberrations" in 11q22.3, centromere 12, 13q14.3, and 17p13, Sánchez and Aventín 15 found higher proportions of detectable aberrant clones in TPA-cultivated material than in smears. The same was found previously for 17p13 by Cano et al, 13 while the same authors could not confirm this effect for trisomy 12.…”

Section: Discussionmentioning

confidence: 95%

“…In this study, the same probes as previously studied 13,15,16 and two additional loci (11q22.2 and 14q32.33) were tested on the two mentioned CLLderived interphase materials. Overall, in this study, the number of aberrant cells detected was higher in cell suspension after cultivation and stimulation by TPA than in smears (Fig.…”

Section: Discussionmentioning

confidence: 99%

“…Also, Cano et al 13 showed the ability to detect TP53 deletions and trisomy 12 in uncultivated smears at a low percentage of aberrant cells. However, as seen in cases 3 and 5, low-level presence of biallelic deletion of RB1 may be missed if only applying smears.…”

Section: Discussionmentioning

confidence: 99%

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Interphase Molecular Cytogenetic Detection Rates of Chronic Lymphocytic Leukemia–Specific Aberrations Are Higher in Cultivated Cells Than in Blood or Bone Marrow Smears

Alhourani

Aroutiounian

Harutyunyan

et al. 2016

J Histochem Cytochem.

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Banding cytogenetics is still the gold standard in many fields of leukemia diagnostics. However, in chronic lymphocytic leukemia (CLL), GTG-banding results are hampered by a low mitotic rate of the corresponding malignant lymphatic cells. Thus, interphase fluorescence in situ hybridization (iFISH) for the detection of specific cytogenetic aberrations is done nowadays as a supplement to or even instead of banding cytogenetics in many diagnostic laboratories. These iFISH studies can be performed on native blood or bone marrow smears or in nuclei after cultivation and stimulation by a suitable mitogen. As there are only few comparative studies with partially conflicting results for the detection rates of aberrations in cultivated and native cells, this question was studied in 38 CLL cases with known aberrations in 11q22.2, 11q22.3, 12, 13q14.3, 14q32.33, 17p13.1, or 18q21.32. The obtained results implicate that iFISH directly applied on smears is in general less efficient for the detection of CLL-specific genetic abnormalities than for cultivated cells. This also shows that applied cell culture conditions are well suited for malignant CLL cells. Thus, to detect malignant aberrant cells in CLL, cell cultivation and cytogenetic workup should be performed and the obtained material should be subjected to banding cytogenetics and iFISH.

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Impact of trisomy 12, del(13q), del(17p), and del(11q) on the immunophenotype, DNA ploidy status, and proliferative rate of leukemic B‐cells in chronic lymphocytic leukemia

Quijano

López

Rasillo

et al. 2007

Cytometry Part B Clinical

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B-cell chronic lymphocytic leukemia (B-CLL) is a well-defined clinical entity with heterogeneous molecular and cytogenetic features.Here, we analyze the impact of trisomy 12, del(13q), del(17p), and del(11q) as determined by interphase fluorescence in situ hybridization analysis of purified neoplastic B-CLL cells on their immunophenotype , DNA ploidy status and proliferative rate.Overall, 111 of 180 (62%) B-CLL cases studied displayed one (50%) or more (12%) genetic abnormalities, del(13q) (35%) being more frequently detected than trisomy 12 (23%) followed by del(11q) (9%) and del(17p) (8%). Trisomy 12 was associated with a higher frequency of DNA aneuploidy, stronger expression of CD19, CD20, CD22, CD24, CD27, CD79b, CD38, and sIg and lower reactivity for CD43 with respect to cytogenetically nonaltered cases. In turn, cases with del(13q) displayed greater reactivity for CD20, FMC7, CD27, CD22, CD5, and bcl2, while del (

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Trisomy 12 and p53 deletion in chronic lymphocytic leukemia detected by fluorescence in situ hybridization: Association with morphology and resistance to conventional chemotherapy

Cited by 27 publications

References 33 publications

CD38 gene polymorphism and chronic lymphocytic leukemia: a role in transformation to Richter syndrome?

CD38 gene polymorphism and chronic lymphocytic leukemia: a role in transformation to Richter syndrome?

Interphase Molecular Cytogenetic Detection Rates of Chronic Lymphocytic Leukemia–Specific Aberrations Are Higher in Cultivated Cells Than in Blood or Bone Marrow Smears

Impact of trisomy 12, del(13q), del(17p), and del(11q) on the immunophenotype, DNA ploidy status, and proliferative rate of leukemic B‐cells in chronic lymphocytic leukemia

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