Chromosomal Aberrations in ETV6/RUNX1-positive Childhood Acute Lymphoblastic Leukemia using 244K Oligonucleotide Array Comparative Genomic Hybridization.

Abstract:

UNLABELLED: BACKGROUND:Acute lymphoblastic leukemia (ALL) is a heterogeneous form of hematological cancer consisting of various subtypes. We are interested to study the genetic aberration in precursor B-cell ALL with specific t(12;21) translocation in childhood ALL patients. A high resolution 244K array-based Comparative Genomic Hybridization (array-CGH) was used to study eleven ETV6/RUNX1-positive childhood acute lymphoblastic leukemia (ALL) patients. RESULT:155 chromosomal aberrations (119 losses, 36 gains) were reported in the array findings, corresponding to 76.8% deletions and 23.2% amplifications. The ETV6 gene deletion occurred in 4 of the patients, corresponding to 45% of the sample. The most common alterations above 1 Mb were deletion 6q (13%), 12p (12%) and 9p (8%), and duplication 4q (6%) and Xq (4%). Other genes important in ALL were also identified in this study including RUNX1, CDKN2A, FHIT, and PAX5. The array-CGH technique was able to detect microdeletion as small as 400 bp. CONCLUSION:The results demonstrate the usefulness of high resolution array-CGH as a complementary tool in the investigation of ALL.

journal_name

Mol Cytogenet

journal_title

Molecular cytogenetics

authors

Zakaria Z,Ahid MF,Ismail A,Keoh TS,Nor NM,Kamaluddin NR,Esa E,Yuen LK,Rahman EJ,Osman R

doi

10.1186/1755-8166-5-41

subject

Has Abstract

pub_date

2012-11-15 00:00:00

pages

41

issue

1

issn

1755-8166

pii

1755-8166-5-41

journal_volume

5

pub_type

杂志文章
  • Partial monosomy14q involving FOXG1 and NOVA1 in an infant with microcephaly, seizures and severe developmental delay.

    abstract:BACKGROUND:FOXG1 gene mutations have been associated with the congenital variant of Rett syndrome (RTT) since the initial description of two patients in 2008. The on-going accumulation of clinical data suggests that the FOXG1-variant of RTT forms a distinguishable phenotype, consisting mainly of postnatal microcephaly,...

    journal_title:Molecular cytogenetics

    pub_type:

    doi:10.1186/s13039-016-0269-1

    authors: Fryssira H,Tsoutsou E,Psoni S,Amenta S,Liehr T,Anastasakis E,Skentou Ch,Ntouflia A,Papoulidis I,Manolakos E,Chaliasos N

    更新日期:2016-08-02 00:00:00

  • Partial tetrasomy of the proximal long arm of chromosome 15 in two patients: the significance of the gene dosage in terms of phenotype.

    abstract:BACKGROUND:Large amounts of low copy number repeats in the 15q11.2q13.3 chromosomal region increase the possibility of misalignments and unequal crossover during meiosis in this region, leading to deletions, duplications, triplications and supernumerary chromosomes. Most of the reported cases with epilepsy, autism and ...

    journal_title:Molecular cytogenetics

    pub_type:

    doi:10.1186/s13039-015-0137-4

    authors: Szabo A,Czako M,Hadzsiev K,Duga B,Komlosi K,Melegh B

    更新日期:2015-06-25 00:00:00

  • Short stature and primary ovarian insufficiency possibly due to chromosomal position effect in a balanced X;1 translocation.

    abstract:BACKGROUND:Primary ovarian insufficiency (POI) is defined as a primary ovarian defect characterized by absent menarche (primary amenorrhea), a decrease in the initial primordial follicle number, high follicle-stimulating hormone (FSH) levels and hypoestrogenism. Although the etiology of a majority of POI cases is not y...

    journal_title:Molecular cytogenetics

    pub_type:

    doi:10.1186/s13039-015-0154-3

    authors: Genesio R,Mormile A,Licenziati MR,De Brasi D,Leone G,Balzano S,Izzo A,Bonfiglio F,Conti A,Fioretti G,Lenta S,Poggiano MR,Siani P,Nitsch L

    更新日期:2015-07-15 00:00:00

  • Microarray-based genomic profiling and in situ hybridization on fibrotic bone marrow biopsies for the identification of numerical chromosomal abnormalities in myelodysplastic syndrome.

    abstract:BACKGROUND:Myelodysplastic syndromes (MDS) are a heterogeneous group of clonal hematological malignancies. In MDS patients with a fibrotic bone marrow the aspiration of cells often fails (dry-tap), which hampers standard karyotyping. Obtaining genetic data from these fibrotic marrows is therefore challenging, and up ti...

    journal_title:Molecular cytogenetics

    pub_type: 杂志文章

    doi:10.1186/s13039-015-0136-5

    authors: Stevens-Kroef MJ,Hebeda KM,Verwiel ET,Kamping EJ,van Cleef PH,Kuiper RP,Groenen PJ

    更新日期:2015-05-28 00:00:00

  • 13q deletion syndrome resulting from balanced chromosomal rearrangement in father: the significance of parental karyotyping.

    abstract:Background:Retinoblastoma is a malignancy of the eye in children characterized by biallelic inactivation of the retinoblastoma 1 gene (RB1), located at chromosome 13q14.2. Children with interstitial chromosome 13q deletions that include the RB1 gene show a predisposition to develop retinoblastoma and variable other fea...

    journal_title:Molecular cytogenetics

    pub_type:

    doi:10.1186/s13039-020-00500-7

    authors: Dittner-Moormann S,Reschke M,Biewald E,Kuechler A,Klein B,Timmermann B,Lohmann D,Ketteler P,Kanber D

    更新日期:2020-07-23 00:00:00

  • Microdeletions in 9q33.3-q34.11 in five patients with intellectual disability, microcephaly, and seizures of incomplete penetrance: is STXBP1 not the only causative gene?

    abstract:BACKGROUND:Most microdeletions involving chromosome sub-bands 9q33.3-9q34.11 to this point have been detected by analyses focused on STXBP1, a gene known to cause early infantile epileptic encephalopathy 4 and other seizure phenotypes. Loss-of-function mutations of STXBP1 have also been identified in some patients with...

    journal_title:Molecular cytogenetics

    pub_type: 杂志文章

    doi:10.1186/s13039-015-0178-8

    authors: Ehret JK,Engels H,Cremer K,Becker J,Zimmermann JP,Wohlleber E,Grasshoff U,Rossier E,Bonin M,Mangold E,Bevot A,Schön S,Heilmann-Heimbach S,Dennert N,Mathieu-Dramard M,Lacaze E,Plessis G,de Broca A,Jedraszak G,Röthlis

    更新日期:2015-09-29 00:00:00

  • A modified method for preparing meiotic chromosomes based on digesting pollen mother cells in suspension.

    abstract:BACKGROUND:Meiotic chromosome preparation is a key step in plant meiotic research. Pollen mother cell (PMC) wall elimination is beneficial to cytogenetic experimental procedures. Without wall interference, these procedures are easier and more successful. In existing methods it is difficult to eliminate PMC walls comple...

    journal_title:Molecular cytogenetics

    pub_type: 杂志文章

    doi:10.1186/s13039-015-0184-x

    authors: Dang J,Zhao Q,Yang X,Chen Z,Xiang S,Liang G

    更新日期:2015-10-24 00:00:00

  • 7p15 deletion as the cause of hand-foot-genital syndrome: a case report, literature review and proposal of a minimum region for this phenotype.

    abstract:Background:Hand-foot-genital syndrome (HFGS) is a rare condition characterized by congenital malformations in the limbs and genitourinary tract. Generally, this syndrome occurs due to point mutations that cause loss of function of the HOXA13 gene, which is located on 7p15; however, there are some patients with HFGS cau...

    journal_title:Molecular cytogenetics

    pub_type:

    doi:10.1186/s13039-017-0345-1

    authors: Yokoyama E,Smith-Pellegrin DL,Sánchez S,Molina B,Rodríguez A,Juárez R,Lieberman E,Avila S,Castrillo JL,Del Castillo V,Frías S

    更新日期:2017-11-15 00:00:00

  • FISH molecular testing in cytological preparations from solid tumors.

    abstract::Many of the exciting new developments in solid tumor molecular cytogenetics impact classical and molecular pathology. Fluorescence in situ hybridization to identify specific DNA target sequences in nuclei of non-dividing cells in solid neoplasms has contributed to the integration of molecular cytogenetics into cytolog...

    journal_title:Molecular cytogenetics

    pub_type: 杂志文章

    doi:10.1186/s13039-014-0056-9

    authors: Caria P,Vanni R

    更新日期:2014-08-22 00:00:00

  • Cytogenetics and stripe rust resistance of wheat-Thinopyrum elongatum hybrid derivatives.

    abstract:Background:Amphidiploids generated by distant hybridization are commonly used as genetic bridge to transfer desirable genes from wild wheat species into cultivated wheat. This method is typically used to enhance the resistance of wheat to biotic or abiotic stresses, and to increase crop yield and quality. Tetraploid Th...

    journal_title:Molecular cytogenetics

    pub_type: 杂志文章

    doi:10.1186/s13039-018-0366-4

    authors: Li D,Long D,Li T,Wu Y,Wang Y,Zeng J,Xu L,Fan X,Sha L,Zhang H,Zhou Y,Kang H

    更新日期:2018-02-05 00:00:00

  • Chromothripsis 18 in multiple myeloma patient with rapid extramedullary relapse.

    abstract:Background:Catastrophic chromosomal event known as chromothripsis was proven to be a significant hallmark of poor prognosis in several cancer diseases. While this phenomenon is very rare in among multiple myeloma (MM) patients, its presence in karyotype is associated with very poor prognosis. Case presentation:In our ...

    journal_title:Molecular cytogenetics

    pub_type:

    doi:10.1186/s13039-018-0357-5

    authors: Smetana J,Oppelt J,Štork M,Pour L,Kuglík P

    更新日期:2018-01-18 00:00:00

  • Candidate metastasis suppressor genes uncovered by array comparative genomic hybridization in a mouse allograft model of prostate cancer.

    abstract:BACKGROUND:The purpose of this study was to identify candidate metastasis suppressor genes from a mouse allograft model of prostate cancer (NE-10). This allograft model originally developed metastases by twelve weeks after implantation in male athymic nude mice, but lost the ability to metastasize after a number of in ...

    journal_title:Molecular cytogenetics

    pub_type: 杂志文章

    doi:10.1186/1755-8166-2-18

    authors: Yi Y,Nandana S,Case T,Nelson C,Radmilovic T,Matusik RJ,Tsuchiya KD

    更新日期:2009-09-26 00:00:00

  • Cytogenetic analysis in the neotropical fish Astyanax goyacensis Eigenmann, 1908 (Characidae, incertae sedis): karyotype description and occurrence of B microchromosomes.

    abstract:BACKGROUND:B chromosomes, also known as supernumerary or accessory chromosomes, are additional chromosomes over the standard complement found in various groups of plants and animals. We investigated the presence of, and characterized, supernumerary microchromosomes in Astyanax goyacensis using classical and molecular c...

    journal_title:Molecular cytogenetics

    pub_type: 杂志文章

    doi:10.1186/1755-8166-6-48

    authors: Dos Santos LP,Castro JP,Francisco CM,Vicari MR,de Almeida MC,Goll LG,Morelli S,Artoni RF

    更新日期:2013-11-05 00:00:00

  • Meiotic outcome in two carriers of Y autosome reciprocal translocations: selective elimination of certain segregants.

    abstract:BACKGROUND:Reciprocal Y autosome translocations are rare but frequently associated with male infertility. We report on the meiotic outcome in embryos fathered by two males with the karyotypes 46,X,t(Y;4)(q12;p15.32) and 46,X,t(Y;16)(q12;q13). The two couples underwent preimplantation genetic diagnosis (PGD) enabling de...

    journal_title:Molecular cytogenetics

    pub_type: 杂志文章

    doi:10.1186/s13039-017-0303-y

    authors: Ghevaria H,Naja R,SenGupta S,Serhal P,Delhanty J

    更新日期:2017-02-02 00:00:00

  • Identification of small segmental translocations in patients with repeated implantation failure and recurrent miscarriage using next generation sequencing after in vitro fertilization/intracytoplasmic sperm injection.

    abstract:BACKGROUND:To develop a novel preimplantation genetic screening (PGS) test using next generation sequencing(NGS) as a alternative to current array comparative genomic hybridization (array CGH) method for detection of small segmental translocations in two patients with repeated implantation failure (RIF) and recurrent m...

    journal_title:Molecular cytogenetics

    pub_type:

    doi:10.1186/s13039-015-0207-7

    authors: Ou J,Wang W,Feng T,Liao L,Meng Q,Zou Q,Ding J,Zheng A,Duan C,Li P,Liu Q,Lin C,Li H

    更新日期:2015-12-30 00:00:00

  • On the significance of germline cytogenetic rearrangements at MYCN locus in neuroblastoma.

    abstract:BACKGROUND:MYCN oncogene amplification is the most important prognostic factor in neuroblastoma. 25% neuroblastoma tumors have somatic amplifications at this locus but little is known about its constitutional aberrations and their potential role in carcinogenesis. Here, we have performed an array-CGH and qPCR character...

    journal_title:Molecular cytogenetics

    pub_type: 杂志文章

    doi:10.1186/1755-8166-6-43

    authors: Lipska BS,Koczkowska M,Wierzba J,Ploszynska A,Iliszko M,Izycka-Swieszewska E,Adamkiewicz-Drozynska E,Limon J

    更新日期:2013-10-16 00:00:00

  • Chromosomal mapping of microsatellite repeats in the rock bream fish Oplegnathus fasciatus, with emphasis of their distribution in the neo-Y chromosome.

    abstract::Despite the theoretical and experimental progress, our understanding on sex chromosome differentiation is still diagrammatic. The accumulation of repetitive DNA sequences is believed to occur in early stages of such differentiation. As fish species present a wide range of sex chromosome systems they are excellent mode...

    journal_title:Molecular cytogenetics

    pub_type: 杂志文章

    doi:10.1186/1755-8166-6-12

    authors: Xu D,Lou B,Bertollo LA,Cioffi Mde B

    更新日期:2013-03-19 00:00:00

  • Automated detection of residual cells after sex-mismatched stem-cell transplantation - evidence for presence of disease-marker negative residual cells.

    abstract:BACKGROUND:A new chimerism analysis based on automated interphase fluorescence in situ hybridization (FISH) evaluation was established to detect residual cells after allogene sex-mismatched bone marrow or blood stem-cell transplantation.Cells of 58 patients were characterized as disease-associated due to presence of a ...

    journal_title:Molecular cytogenetics

    pub_type: 杂志文章

    doi:10.1186/1755-8166-2-12

    authors: Erlecke J,Hartmann I,Hoffmann M,Kroll T,Starke H,Heller A,Gloria A,Sayer HG,Johannes T,Claussen U,Liehr T,Loncarevic IF

    更新日期:2009-05-29 00:00:00

  • A de novo duplication of chromosome 9q34.13-qter in a fetus with Tetralogy of Fallot Syndrome.

    abstract:BACKGROUND:Partial duplications of the distal 9q have been rarely reported in literatures. The key features included characteristic facial appearance, long fingers and toes, slight psychomotor retardation, heart murmur et al. But rare severe congenital heart defects (CHD) such as TOF were reported to be associated with...

    journal_title:Molecular cytogenetics

    pub_type:

    doi:10.1186/s13039-016-0267-3

    authors: Liu J,Hu H,Ma N,Jia Z,Zhou Y,Hu J,Wang H

    更新日期:2016-07-25 00:00:00

  • Global DNA Methylation patterns on marsupial and devil facial tumour chromosomes.

    abstract:BACKGROUND:Despite DNA methylation being one of the most widely studied epigenetic modifications in eukaryotes, only a few studies have examined the global methylation status of marsupial chromosomes. The emergence of devil facial tumour disease (DFTD), a clonally transmissible cancer spreading through the Tasmanian de...

    journal_title:Molecular cytogenetics

    pub_type: 杂志文章

    doi:10.1186/s13039-015-0176-x

    authors: Ingles ED,Deakin JE

    更新日期:2015-10-01 00:00:00

  • Comparative analysis of copy number detection by whole-genome BAC and oligonucleotide array CGH.

    abstract:BACKGROUND:Microarray-based comparative genomic hybridization (aCGH) is a powerful diagnostic tool for the detection of DNA copy number gains and losses associated with chromosome abnormalities, many of which are below the resolution of conventional chromosome analysis. It has been presumed that whole-genome oligonucle...

    journal_title:Molecular cytogenetics

    pub_type: 杂志文章

    doi:10.1186/1755-8166-3-11

    authors: Neill NJ,Torchia BS,Bejjani BA,Shaffer LG,Ballif BC

    更新日期:2010-06-29 00:00:00

  • Frequency of the 7q11.23 inversion polymorphism in transmitting parents of children with Williams syndrome and in the general population does not differ between North America and Europe.

    abstract:: Inversion of the Williams syndrome (WS) region on chromosome 7q11.23 has previously been shown to occur at a higher frequency in the transmitting parents of children with WS than in the general population, suggesting that it predisposes to the WS deletion. Frohnauer et al. recently reported that the frequency of this...

    journal_title:Molecular cytogenetics

    pub_type: 杂志文章

    doi:10.1186/1755-8166-4-7

    authors: Morris CA,Mervis CB,Osborne LR

    更新日期:2011-02-28 00:00:00

  • Rare gene fusion rearrangement SPTNB1-PDGFRB in an atypical myeloproliferative neoplasm.

    abstract::The 2016 revision to the World Health Organization classification of myeloid neoplasms and acute leukemia recognizes a distinct class of myeloid and lymphoid tumors with eosinophilia-related proliferations associated with specific gene rearrangements, one of which involves rearrangements of platelet-derived growth fac...

    journal_title:Molecular cytogenetics

    pub_type: 杂志文章

    doi:10.1186/s13039-018-0405-1

    authors: Furtado VF,Saini NY,Walsh W,Bathini V,Miron PM

    更新日期:2018-10-19 00:00:00

  • Report of a patient and further clinical and molecular characterization of interstitial 4p16.3 microduplication.

    abstract:BACKGROUND:Pure interstitial duplications of chromosome band 4p16.3 represent an infrequent chromosomal finding with, to the best of our knowledge, only two patients to date reported. CASE PRESENTATION:We report on a 13-year-old boy showing a set of dysmorphic facial features, attention deficit hyperactivity disorders...

    journal_title:Molecular cytogenetics

    pub_type:

    doi:10.1186/s13039-015-0119-6

    authors: Palumbo O,Palumbo P,Ferri E,Riviello FN,Cloroformio L,Carella M,Di Giacomo MC

    更新日期:2015-02-28 00:00:00

  • Complex balanced chromosomal translocation t(2;5;13) (p21;p15;q22) in a woman with four reproductive failures.

    abstract:BACKGROUND:Balanced complex translocations (BCTs) are rare events, they may result in reproductive failures: spontaneous abortions, missed abortions, stillbirths, congenital malformations in children, and male infertility. BCTs belong to the group of complex chromosome rearrangements (CCRs) - up to date about 260 cases...

    journal_title:Molecular cytogenetics

    pub_type:

    doi:10.1186/s13039-014-0083-6

    authors: Lazarczyk E,Drozniewska M,Pasinska M,Stasiewicz-Jarocka B,Midro AT,Haus O

    更新日期:2014-11-19 00:00:00

  • Cytogenetically visible copy number variations (CG-CNVs) in banding and molecular cytogenetics of human; about heteromorphisms and euchromatic variants.

    abstract:BACKGROUND:Copy number variations (CNVs) having no (obvious) clinical effects were rediscovered as major part of human genome in 2004. However, for every cytogeneticist microscopically visible harmless CNVs (CG-CNVs) are well known since decades. Harmless CG-CNVs can be present as heterochromatic or even as euchromatic...

    journal_title:Molecular cytogenetics

    pub_type: 杂志文章,评审

    doi:10.1186/s13039-016-0216-1

    authors: Liehr T

    更新日期:2016-01-22 00:00:00

  • Derivative chromosomes involving 5p large rearranged segments went unnoticed with the use of conventional cytogenetics.

    abstract:Background:In countries where comparative genomic hybridization arrays (aCGH) and next generation sequencing are not widely available due to accessibility and economic constraints, conventional 400-500-band karyotyping is the first-line choice for the etiological diagnosis of patients with congenital malformations and ...

    journal_title:Molecular cytogenetics

    pub_type:

    doi:10.1186/s13039-018-0374-4

    authors: Yokoyama E,Del Castillo V,Sánchez S,Ramos S,Molina B,Torres L,Navarro MJ,Avila S,Castrillo JL,García-De Teresa B,Asch B,Frías S

    更新日期:2018-05-09 00:00:00

  • A rare coincidence of different types of driver mutations among uterine leiomyomas (UL).

    abstract::Mutations of mediator subcomplex 12 (MED12) and of high mobility group protein AT-hook 2 (HMGA2) are driver mutations in uterine leiomyomas (UL) that have not been observed to coexist in one tumor and even rarely coexist in different UL tumors of one patient. Here we describe a patient who underwent hysterectomy becau...

    journal_title:Molecular cytogenetics

    pub_type:

    doi:10.1186/s13039-015-0177-9

    authors: Holzmann C,Markowski DN,Bartnitzke S,Koczan D,Helmke BM,Bullerdiek J

    更新日期:2015-10-14 00:00:00

  • A new case of de novo 19p13.2p13.12 deletion in a girl with overgrowth and severe developmental delay.

    abstract:BACKGROUND:We report clinical and molecular cytogenetic characterization of a 2 year-old girl with 19p13.2p13.12 microdeletion and compare her clinical features with those of three other patients reported before. RESULT:Array comparative genomic hybridization (aCGH) revealed in the present patient a de novo microdelet...

    journal_title:Molecular cytogenetics

    pub_type:

    doi:10.1186/1755-8166-7-40

    authors: Natiq A,Elalaoui SC,Miesch S,Bonnet C,Jonveaux P,Amzazi S,Sefiani A

    更新日期:2014-06-05 00:00:00

  • Meiotic segregation and interchromosomal effect in the sperm of a double translocation carrier: a case report.

    abstract:BACKGROUND:Infertility is a natural mechanism of selection intended to prevent the delivery of a child with malformations or mental retardation. Male infertility is closely related to chromosomal abnormalities. This study was focused on the analysis of meiotic segregation involving a Robertsonian translocation, 45,XY,d...

    journal_title:Molecular cytogenetics

    pub_type: 杂志文章

    doi:10.1186/1755-8166-2-24

    authors: Juchniuk de Vozzi MS,Santos SA,Pereira CS,Cuzzi JF,Laureano LA,Franco JG Jr,Martelli L

    更新日期:2009-12-01 00:00:00