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Refinement of 1p36 alterations not involving PRDM16 in myeloid and lymphoid malignancies.

Duhoux FP, Ameye G, Lambot V, Herens C, Lambert F, Raynaud S, Wlodarska I, Michaux L, Roche-Lestienne C, Labis E, Taviaux S, Chapiro E, Nguyen-Khac F, Khac FN, Struski S, Dobbelstein S, Dastugue N, Lippert E, Speleman F, Van Roy N, De Weer A, Rack K, Talmant P, Richebourg S, Mugneret F, Tigaud I, Mozziconacci MJ, Laibe S, Nadal N, Terré C, Libouton JM, Decottignies A, Vikkula M, Poirel HA, Groupe Francophone de Cytogénétique Hématologique (GFCH)Belgian Cytogenetic Group for Hematology and Oncology (BCG-H - PLoS ONE (2011)

Bottom Line: We also found novel partner loci on 1p36 for the known multi-partner genes HMGA2 and RUNX1.Intrachromosomal telomeric repetitive sequences were detected in at least half the cases of telomeric rearrangements.It is unclear how the latter rearrangements occurred and whether they represent oncogenic events or result from chromosomal instability during oncogenesis.

View Article: PubMed Central - PubMed

Affiliation: Center for Human Genetics, Cliniques Universitaires Saint-Luc, Université Catholique de Louvain, Brussels, Belgium.

ABSTRACT
Fluorescence in situ hybridization was performed to characterize 81 cases of myeloid and lymphoid malignancies with cytogenetic 1p36 alterations not affecting the PRDM16 locus. In total, three subgroups were identified: balanced translocations (N = 27) and telomeric rearrangements (N = 15), both mainly observed in myeloid disorders; and unbalanced non-telomeric rearrangements (N = 39), mainly observed in lymphoid proliferations and frequently associated with a highly complex karyotype. The 1p36 rearrangement was isolated in 12 cases, mainly myeloid disorders. The breakpoints on 1p36 were more widely distributed than previously reported, but with identifiable rare breakpoint cluster regions, such as the TP73 locus. We also found novel partner loci on 1p36 for the known multi-partner genes HMGA2 and RUNX1. We precised the common terminal 1p36 deletion, which has been suggested to have an adverse prognosis, in B-cell lymphomas [follicular lymphomas and diffuse large B-cell lymphomas with t(14;18)(q32;q21) as well as follicular lymphomas without t(14;18)]. Intrachromosomal telomeric repetitive sequences were detected in at least half the cases of telomeric rearrangements. It is unclear how the latter rearrangements occurred and whether they represent oncogenic events or result from chromosomal instability during oncogenesis.

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Unbalanced, non-telomeric rearrangements.Each column represents a case, each line represents a BAC or fosmid probe. 2 Mb intervals on 1p36 are represented at the same size. Diagnoses are highlighted in gold in myeloid cases and in light yellow in lymphoid cases. The results of the used BAC probes are represented in unshadowed boxes, inferences are represented in shadowed boxes. Cells are painted green if the probe hybridizes to the der(1), purple if the probe signal is weaker on the der(1) than on the normal chromosome 1, and red if the probe is deleted. There was one case of interstitial deletion (case 143) that was included in this subgroup as it did not belong to any of the other two subgroups; it was ordered according to its breakpoint on 1p36. Additional details are available in Table S3.
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pone-0026311-g003: Unbalanced, non-telomeric rearrangements.Each column represents a case, each line represents a BAC or fosmid probe. 2 Mb intervals on 1p36 are represented at the same size. Diagnoses are highlighted in gold in myeloid cases and in light yellow in lymphoid cases. The results of the used BAC probes are represented in unshadowed boxes, inferences are represented in shadowed boxes. Cells are painted green if the probe hybridizes to the der(1), purple if the probe signal is weaker on the der(1) than on the normal chromosome 1, and red if the probe is deleted. There was one case of interstitial deletion (case 143) that was included in this subgroup as it did not belong to any of the other two subgroups; it was ordered according to its breakpoint on 1p36. Additional details are available in Table S3.

Mentions: The 39 patients with unbalanced rearrangements included 9 myeloid disorders (7 AML, 1 MDS and 1 CML), 29 lymphoid malignancies [2 B-cell precursor ALL, 1 lymphoproliferative syndrome (LPS), 17 FL, 5 diffuse large B-cell lymphomas (DLBCL), 2 MZL, 1 T-cell ALL and 1 peripheral T-cell lymphomas (PTCL)] and 1 acute undifferenciated leukemia (AUL). There were 27 B-cell lymphoproliferations, of which 19 presented with t(14;18)(q32;q21) (16 FL and 3 DLBCL). Results of FISH analysis are depicted in Figure 3 and in Table S3.


Refinement of 1p36 alterations not involving PRDM16 in myeloid and lymphoid malignancies.

Duhoux FP, Ameye G, Lambot V, Herens C, Lambert F, Raynaud S, Wlodarska I, Michaux L, Roche-Lestienne C, Labis E, Taviaux S, Chapiro E, Nguyen-Khac F, Khac FN, Struski S, Dobbelstein S, Dastugue N, Lippert E, Speleman F, Van Roy N, De Weer A, Rack K, Talmant P, Richebourg S, Mugneret F, Tigaud I, Mozziconacci MJ, Laibe S, Nadal N, Terré C, Libouton JM, Decottignies A, Vikkula M, Poirel HA, Groupe Francophone de Cytogénétique Hématologique (GFCH)Belgian Cytogenetic Group for Hematology and Oncology (BCG-H - PLoS ONE (2011)

Unbalanced, non-telomeric rearrangements.Each column represents a case, each line represents a BAC or fosmid probe. 2 Mb intervals on 1p36 are represented at the same size. Diagnoses are highlighted in gold in myeloid cases and in light yellow in lymphoid cases. The results of the used BAC probes are represented in unshadowed boxes, inferences are represented in shadowed boxes. Cells are painted green if the probe hybridizes to the der(1), purple if the probe signal is weaker on the der(1) than on the normal chromosome 1, and red if the probe is deleted. There was one case of interstitial deletion (case 143) that was included in this subgroup as it did not belong to any of the other two subgroups; it was ordered according to its breakpoint on 1p36. Additional details are available in Table S3.
© Copyright Policy
Related In: Results  -  Collection

Show All Figures
getmorefigures.php?uid=PMC3198844&req=5

pone-0026311-g003: Unbalanced, non-telomeric rearrangements.Each column represents a case, each line represents a BAC or fosmid probe. 2 Mb intervals on 1p36 are represented at the same size. Diagnoses are highlighted in gold in myeloid cases and in light yellow in lymphoid cases. The results of the used BAC probes are represented in unshadowed boxes, inferences are represented in shadowed boxes. Cells are painted green if the probe hybridizes to the der(1), purple if the probe signal is weaker on the der(1) than on the normal chromosome 1, and red if the probe is deleted. There was one case of interstitial deletion (case 143) that was included in this subgroup as it did not belong to any of the other two subgroups; it was ordered according to its breakpoint on 1p36. Additional details are available in Table S3.
Mentions: The 39 patients with unbalanced rearrangements included 9 myeloid disorders (7 AML, 1 MDS and 1 CML), 29 lymphoid malignancies [2 B-cell precursor ALL, 1 lymphoproliferative syndrome (LPS), 17 FL, 5 diffuse large B-cell lymphomas (DLBCL), 2 MZL, 1 T-cell ALL and 1 peripheral T-cell lymphomas (PTCL)] and 1 acute undifferenciated leukemia (AUL). There were 27 B-cell lymphoproliferations, of which 19 presented with t(14;18)(q32;q21) (16 FL and 3 DLBCL). Results of FISH analysis are depicted in Figure 3 and in Table S3.

Bottom Line: We also found novel partner loci on 1p36 for the known multi-partner genes HMGA2 and RUNX1.Intrachromosomal telomeric repetitive sequences were detected in at least half the cases of telomeric rearrangements.It is unclear how the latter rearrangements occurred and whether they represent oncogenic events or result from chromosomal instability during oncogenesis.

View Article: PubMed Central - PubMed

Affiliation: Center for Human Genetics, Cliniques Universitaires Saint-Luc, Université Catholique de Louvain, Brussels, Belgium.

ABSTRACT
Fluorescence in situ hybridization was performed to characterize 81 cases of myeloid and lymphoid malignancies with cytogenetic 1p36 alterations not affecting the PRDM16 locus. In total, three subgroups were identified: balanced translocations (N = 27) and telomeric rearrangements (N = 15), both mainly observed in myeloid disorders; and unbalanced non-telomeric rearrangements (N = 39), mainly observed in lymphoid proliferations and frequently associated with a highly complex karyotype. The 1p36 rearrangement was isolated in 12 cases, mainly myeloid disorders. The breakpoints on 1p36 were more widely distributed than previously reported, but with identifiable rare breakpoint cluster regions, such as the TP73 locus. We also found novel partner loci on 1p36 for the known multi-partner genes HMGA2 and RUNX1. We precised the common terminal 1p36 deletion, which has been suggested to have an adverse prognosis, in B-cell lymphomas [follicular lymphomas and diffuse large B-cell lymphomas with t(14;18)(q32;q21) as well as follicular lymphomas without t(14;18)]. Intrachromosomal telomeric repetitive sequences were detected in at least half the cases of telomeric rearrangements. It is unclear how the latter rearrangements occurred and whether they represent oncogenic events or result from chromosomal instability during oncogenesis.

Show MeSH
Related in: MedlinePlus