Genomic gain at 6p21: a new cryptic molecular rearrangement in secondary myelodysplastic syndrome and acute myeloid leukemia

Starza, Roberta La; Aventı́n, Anna; Matteucci, Caterina; Crescenzi, Barbara; Romoli, Silvia; Testoni, Nicoletta; Pierini, Valentina; Ciolli, Stefania; Sambani, Constantina; Locasciulli, Anna; Bona, Eros Di; Lafage‐Pochitaloff, Marina; Martelli, Massimo F.; Marynen, Peter; Mecucci, Cristina

doi:10.1038/sj.leu.2404208

Cited by 13 publications

(9 citation statements)

References 33 publications

(35 reference statements)

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“…The latter two aberrations were not detectable by karyotype. Genomic gain in 6p21 has been shown to be major pathogenic events in progression of MDS to AML [25]. Case #8 was a therapy-related complex karyotype MDS, with segmental deletions of chromosomes 5, 7 and 12.…”

Section: Resultsmentioning

confidence: 99%

Application of Optical Genome Mapping For Comprehensive Assessment of Chromosomal Structural Variants for Clinical Evaluation of Myelodysplastic Syndromes

Yang

Rush

Montalban‐Bravo

et al. 2021

Preprint

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Structural chromosomal variants [copy number variants (CNVs): losses/ gains and structural variants (SVs): inversions, balanced and unbalanced fusions/translocations] are important for diagnosis and risk-stratification of myelodysplastic syndromes (MDS). Optical genome mapping (OGM) is a novel single-platform cytogenomic technique that enables high-throughput, accurate and genome-wide detection of all types of clinically important chromosomal variants (CNVs and SVs) at a high resolution, hence superior to current standard-of-care cytogenetic techniques that include conventional karyotyping, FISH and chromosomal microarrays. In this proof-of-principle study, we evaluated the performance of OGM in a series of 12 previously well-characterized MDS cases using clinical BM samples. OGM successfully facilitated detection and detailed characterization of twenty-six of the 28 clonal chromosomal variants (concordance rate: 93% with conventional karyotyping; 100% with chromosomal microarray). These included copy number gains/losses, inversions, inter and intra-chromosomal translocations, dicentric and complex derivative chromosomes; the degree of complexity in latter aberrations was not apparent using standard technologies. The 2 missed aberrations were from a single patient within a composite karyotype, below the limit of detection. Further, OGM uncovered 6 additional clinically relevant sub-microscopic aberrations in 4 (33%) patients that were cryptic by standard-of-care technologies, all of which were subsequently confirmed by alternate platforms. OGM permitted precise gene-level mapping of clinically informative genes such as TP53, TET2 and KMT2A, voiding the need for multiple confirmatory assays. OGM is a potent single-platform assay for high-throughput and accurate identification of clinically important chromosomal variants.

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Section: Resultsmentioning

confidence: 99%

Application of Optical Genome Mapping For Comprehensive Assessment of Chromosomal Structural Variants for Clinical Evaluation of Myelodysplastic Syndromes

Yang

Rush

Montalban‐Bravo

et al. 2021

Preprint

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“…Putative candidate genes at 6p21 include CCND3 at 6p21.1 and MHC complex, NOTCH4, BAK1, FANCE, ETV7, HMGA1, FKBP5 at 6p21.3 (La Starza et al, 2006).…”

Section: Notementioning

confidence: 99%

t(6;17)(p21;p13)

Zámečnı́kova¹

2019

Atlas of Genetics and Cytogenetics in Oncology and Haematology

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“…2017 yılında yayımlanan "European Leukemia Net (ELN)" rehberinde prognozu belirleyen kromozomal bozukluklar yeniden tanımlanmıştır (1). 6p23 delesyonu, sekonder AML ve miyelodisplastik sendromda genellikle kompleks karyotipin bir parçası olarak bildirilmektedir (2,3). Altıncı kromozoma ait bozukluklar, aynı zamanda lenfoid maligniteler ve osteoblastom, melanom ve retinoblastom gibi solid malignitelerde de bildirilmiştir (2,4-7).…”

Section: Introductionunclassified

Del(6)(p22)In De Novo Acute Myeloid Leukemia As a Sole Genetic Abnormality

Andıç¹,

Aras²,

Tatlipinar³

et al. 2017

LLM Dergi

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Akut miyeloid lösemi (AML)'de sitogenetik analiz tedaviye yön vermektedir. 6p delesyonu ikincil AML, miyelodisplastik sendrom, lenfoid maligniteler ve solid malignitelerde bildirilmiştir. Birincil AML'de tek genetik bozukluk olarak 6p delesyonu bildiren az sayıda yayın mevcuttur. Bu kromozomal anormalliğin önemi henüz bilinmemektedir. Burada tek genetik bozukluk olarak 6p delesyonu taşıyan bir de novo AML hastası sunulmaktadır.

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Genomic gain at 6p21: a new cryptic molecular rearrangement in secondary myelodysplastic syndrome and acute myeloid leukemia

Cited by 13 publications

References 33 publications

Application of Optical Genome Mapping For Comprehensive Assessment of Chromosomal Structural Variants for Clinical Evaluation of Myelodysplastic Syndromes

Application of Optical Genome Mapping For Comprehensive Assessment of Chromosomal Structural Variants for Clinical Evaluation of Myelodysplastic Syndromes

t(6;17)(p21;p13)

Del(6)(p22)In De Novo Acute Myeloid Leukemia As a Sole Genetic Abnormality

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