Molecular cytogenetics reveals complex karyotype in apparent t(8;13) therapy-related acute myeloid leukemia M2 after fibrosarcoma

Soares-Ventura, Eliane Maria; Mkrtchyan, Hasmik; Marques-Salles, Terezinha de Jesus; Silva, Mariluze; Santos, Neide; Amaral, Bethânia de Araújo Silva; Liehr, Thomas; Abdelhay, Eliana; Silva, Maria Luiza Macedo; Muniz, Maria Tereza Cartaxo

doi:10.1016/j.leukres.2010.12.033

Cited by 3 publications

(2 citation statements)

References 8 publications

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“…Chromosome band 4q24 is a more common chromosomal breakpoint region in myeloid malignancies as 34 cases have been reported in MDS or AML [ 32 ]. The most frequent aberrations include: t(1;4)(p32;q24) [ 44 ], t(1;4)(p35;q24) [ 45 ], t(4;12)(q24;q12-q22) [ 46 , 47 , 48 ], t(4;17)(q24;q25) [ 47 , 48 ], t(X;4)(q22;q24) [ 49 ], and del(4)(q21-q28) [ 50 , 51 , 52 , 53 , 54 , 55 , 56 ]. In a study of four female AML or MDS patients the 4q24 band was involved in three apparently balanced translocations between 4q and a variable partner chromosome, including t(3;4)(q26;q24), t(4;5)(q24;p16), and t(4;7)(q24;q21), and one patient with a localized del(4)(q24q25) [ 57 ].…”

Section: Discussionmentioning

confidence: 99%

A Novel Acquired t(2;4)(q36.1;q24) with a Concurrent Submicroscopic del(4)(q23q24) in An Adult with Polycythemia Vera

Kjeldsen

2018

Cancers

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Background: Polycythemia vera (PV) is a clonal myeloid stem cell disease characterized by a growth-factor independent erythroid proliferation with an inherent tendency to transform into overt acute myeloid malignancy. Approximately 95% of the PV patients harbor the JAK2V617F mutation while less than 35% of the patients harbor cytogenetic abnormalities at the time of diagnosis. Methods and Results: Here we present a JAK2V617F positive PV patient where G-banding revealed an apparently balanced t(2;4)(q35;q21), which was confirmed by 24-color karyotyping. Oligonucleotide array-based Comparative Genomic Hybridization (aCGH) analysis revealed an interstitial 5.4 Mb large deletion at 4q23q24. Locus-specific fluorescent in situ hybridization (FISH) analyses confirmed the mono-allelic 4q deletion and that it was located on der(4)t(2;4). Additional locus-specific bacterial artificial chromosome (BAC) probes and mBanding refined the breakpoint on chromosome 2. With these methods the karyotype was revised to 46,XX,t(2;4)(q36.1;q24)[18]/46,XX[7]. Conclusions: This is the first report on a PV patient associated with an acquired novel t(2;4)(q36.1;q24) and a concurrent submicroscopic deletion del(4)(q23q24). The study also underscores the benefit of combined usage of FISH and oligo-based aCGH analysis in characterizing chromosomal abnormalities. The present findings provide additional clues to unravel important molecular pathways in PV to obtain the full spectrum of acquired chromosomal and genomic aberrations, which eventually may improve treatment options.

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Section: Discussionmentioning

confidence: 99%

A Novel Acquired t(2;4)(q36.1;q24) with a Concurrent Submicroscopic del(4)(q23q24) in An Adult with Polycythemia Vera

Kjeldsen

2018

Cancers

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“…Combined analysis of FISH based methods and karyotyping has been useful in the precise delineation of the karyotypes and accurate chromosome analysis of complex diagnostic cases. A complex case of acute myelogenous leukemia (AML) that showed a normal karyotype, revealed the recurrent translocation t(5;11)(q35;p15.5) with M‐FISH (Table ) while another therapy‐related AML case with a translocation t (8; 13) by conventional G‐banding analysis, revealed an unmasked complex variant, including a four way translocation t (3; 5; 8; 21), with FISH, M‐FISH and mBAND techniques showing the variant as a non‐favorable prognostic factor (Table ). These findings have highlighted the importance of additional tools for accurate diagnosis and prognosis of myeloid malignancies.…”

Section: Application Of Molecular Cytogenetic Methods In Cancermentioning

confidence: 99%

Molecular cytogenetics: recent developments and applications in cancer

Das

Tan

2013

Clinical Genetics

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Aneuploidy or alteration in chromosome numbers is a characteristic feature in cancer that is generally a consequence of defective chromosome segregation during cell division. Molecular cytogenetic analyses have conferred substantial evidence with regards to the chromosomal architectures in cancer. Most importantly, the fluorescence in situ hybridization (FISH) technique that plays a leading role in diagnostic pathology for its single-cell analysis has provided crucial information regarding genomic variations in malignant cells. Further development of molecular cytogenetic methodologies such as chromosome specific FISH karyotyping and comparative genomic hybridization have also helped in the detection of cryptic genetic changes in cancer. But, the recent advancement of high throughput sequencing technologies have provided a more comprehensive genomic analyses resulting in novel chromosome rearrangements, somatic mutations as well as identification of fusion genes leading to new therapeutic targets. This review highlights the application of early molecular cytogenetics and the recent high throughput genomic approaches in characterizing various cancers and their invaluable support in cancer therapeutics.

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t(2;2;21;8)(p21;q37;q22;q22), a novel four-way complex translocation involving variant t(8;21) in case of acute myeloid leukemia : A case report and literature review

Han,

Jing,

et al. 2024

Cancer Genetics

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Molecular cytogenetics reveals complex karyotype in apparent t(8;13) therapy-related acute myeloid leukemia M2 after fibrosarcoma

Cited by 3 publications

References 8 publications

A Novel Acquired t(2;4)(q36.1;q24) with a Concurrent Submicroscopic del(4)(q23q24) in An Adult with Polycythemia Vera

A Novel Acquired t(2;4)(q36.1;q24) with a Concurrent Submicroscopic del(4)(q23q24) in An Adult with Polycythemia Vera

Molecular cytogenetics: recent developments and applications in cancer

t(2;2;21;8)(p21;q37;q22;q22), a novel four-way complex translocation involving variant t(8;21) in case of acute myeloid leukemia : A case report and literature review

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