Late-appearing pseudocentric fission event during chronic myeloid leukemia progression

Storlazzi, Clelia Tiziana; Albano, Francesco; Denčić‐Fekete, Marija; Djordjević, Vladimir; Rocchi, Mariano

doi:10.1016/j.cancergencyto.2006.11.009

Cited by 10 publications

(9 citation statements)

References 34 publications

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“…Additionally, CN variations within JAK2 and KMT2A (also known as MLL ) (CN state 1 and 3, respectively) were observed. FISH, performed as previously described [5], excluded the involvement of JAK2 and KMT2A in further rearrangements leading, for instance, to fusion genes (data not shown), but it could not confirm the CN variation (18.8 and 32.6 Kb, respectively). We conclude that, apart from the deletion of chromosome 5, the complex rearrangement of chromosome 3 was the only relevant structural rearrangement in the bone marrow cells of the patient.…”

Section: Case Presentationmentioning

confidence: 89%

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FOXP1 and TP63 involvement in the progression of myelodysplastic syndrome with 5q- and additional cytogenetic abnormalities

L’Abbate

Cunsolo²,

Macrì³

et al. 2014

BMC Cancer

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BackgroundThe progression of low-risk del(5q) myelodysplastic syndrome to acute myeloid leukemia is increased when associated with mutations of TP53, or with additional chromosomal abnormalities. However, to date the prognostic impact and molecular consequences of these rearrangements were poorly investigated. Single additional alterations to del(5q) by balanced chromosome rearrangements were rarely found in myelodysplasia. In particular, balanced alterations involving TP63 and FOXP1 genes were never reported in the literature.Case presentationHere we report on a 79-year woman with an aggressive form of myelodysplastic syndrome with del(5q), no TP53 mutation, and a novel complex rearrangement of chromosome 3 in bone marrow cells. Our results revealed that the FOXP1 and TP63 genes were both relocated along chromosome 3. Strikingly, immunohistochemistry analysis showed altered protein levels, disclosing that this rearrangement triggered the expression of FOXP1 and TP63 genes. FOXP1 was also found activated in other patients with myelodysplasia and acute myeloid leukemia, showing that it is an important, recurrent event.ConclusionsWe document an apparent role of FOXP1 and TP63, up to now poorly documented, in the progression of MDS in our patient who is lacking mutations in the TP53 tumor suppressor gene normally associated with poor outcome in myelodysplastic syndrome with 5q-. Finally, our results may suggest a possible broader role of FOXP1 in the pathogenesis and progression of myelodysplasia and acute myeloid leukemia.

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Section: Case Presentationmentioning

confidence: 89%

“…(a) Q-banding; (b) FISH cohybridization experiment, performed as previously described [5], using commercial PCP probes specific for 3p (Kreatech, prod. No.…”

Section: Introductionmentioning

confidence: 99%

FOXP1 and TP63 involvement in the progression of myelodysplastic syndrome with 5q- and additional cytogenetic abnormalities

L’Abbate

Cunsolo²,

Macrì³

et al. 2014

BMC Cancer

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“…A detailed fluorescence in situ hybridization (FISH) analysis 10 using selected BAC and fosmid probes (Online Supplementary Appendix) identified a large deletion affecting PAX5 in 14 patients (Online Supplementary Table S2 and Figure S1) and, more importantly, a translocation involving PAX5 in 5 cases (Patients 5, 7, 10, 15 and 19) ( Figure 1A and Online Supplementary A characterization of each novel fusion gene is given below and the expected fusion proteins are described in Figures 2 and 3.…”

Section: 9mentioning

confidence: 99%

Three novel fusion transcripts of the paired box 5 gene in B-cell precursor acute lymphoblastic leukemia

et al. 2014

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“…FISH analysis was done as previously described (18 Collection of DNA from saliva samples Almost 2 mL of saliva samples were collected from 5 patients and mixed with 2 mL DNA preserving solution contained in the Oragene DNA Self-Collection Kit Oragene (OG-500 Tube Format; DNA Genotek Inc.), according to the manufacturer's instructions.…”

Section: Fish and Probesmentioning

confidence: 99%

CDKN2A/BAlterations Impair Prognosis in AdultBCR-ABL1–Positive Acute Lymphoblastic Leukemia Patients

Iacobucci

Ferrari

Lonetti

et al. 2011

Clinical Cancer Research

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Purpose: The 9p21 locus, encoding three important tumor suppressors (p16/CDKN2A, p14/ARF, and p15/CDKN2B), is a major target of inactivation in the pathogenesis of many human tumors.Patients and Methods: To explore, at high resolution, the frequency and size of alterations affecting this locus in adult BCR-ABL1-positive acute lymphoblastic leukemia (ALL) and to investigate their prognostic value, 112 patients (101 de novo and 11 relapsed cases) were analyzed by genome-wide single-nucleotide polymorphism arrays and gene candidate deep exon sequencing. Paired diagnosis-relapse samples were further available and analyzed for 19 (19%) cases.Results: CDKN2A/ARF and CDKN2B genomic alterations were identified in 29% and 25% of newly diagnosed patients, respectively. Deletions were monoallelic in 72% of cases, and in 43% of them, the minimal overlapping region of the lost area spanned only the CDKN2A/B gene locus. An analysis conducted at relapse showed an increase in the detection rate of CDKN2A/ARF loss (47%) compared with the time of diagnosis (P ¼ 0.06). Point mutations within the 9p21 locus were found at very low levels, with only a nonsynonymous substitution in the exon 2 of CDKN2A. Of note, deletions of CDKN2A/B were significantly associated with poor outcomes in terms of overall survival (P ¼ 0.0206), disease free-survival (P ¼ 0.0010), and cumulative incidence of relapse (P ¼ 0.0014).Conclusions: Inactivation of the 9p21 locus by genomic deletion is a frequent event in BCR-ABL1-positive ALL. Deletions are frequently acquired during leukemia progression and are a poor prognostic marker of long-term outcomes. Clin Cancer Res; 17(23); 7413-23. Ó2011 AACR.

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Late-appearing pseudocentric fission event during chronic myeloid leukemia progression

Cited by 10 publications

References 34 publications

FOXP1 and TP63 involvement in the progression of myelodysplastic syndrome with 5q- and additional cytogenetic abnormalities

FOXP1 and TP63 involvement in the progression of myelodysplastic syndrome with 5q- and additional cytogenetic abnormalities

Three novel fusion transcripts of the paired box 5 gene in B-cell precursor acute lymphoblastic leukemia

CDKN2A/BAlterations Impair Prognosis in AdultBCR-ABL1–Positive Acute Lymphoblastic Leukemia Patients

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