Abstract:
Objective:Meningiomas are among the most frequent intracranial tumors. Although the majority of meningiomas can be cured by surgical resection, up to 20% of the patients develop an aggressive clinical course with tumor recurrence or progressive disease.Cytogenetically, meningiomas frequently harbour a normal karyotype or monosomy of chromosome 22 as the sole anomaly. However, progression of meningiomas is associated with a non-random pattern of secondary losses of the chromosomes and chromosomal regions 1p, 6, 10, 14, 18, and 19. There is evidence, that loss of chromosome 17 might be involved in the clonal cytogenetic evolution of recurrent meningiomas. The aim of this study was to determine the role of deletions in the 17q chromosomal region in patients with recurrent meningiomas. Results:The authors retrospectively reviewed all patients that underwent repeated surgery for recurrent meningiomas between 1999 and 2015 at the Department of Neurosurgery of the Saarland University Hospital. Patients were included in this study if tumor samples from two or more different meningiomas were available.A total of 7 patients underwent repeated surgery for recurrent meningiomas (4 males, 3 females, mean age: 45.4 years at the date of surgery) between 1999 and 2015. Collectively, 22 biopsies were analyzed with FISH (fluorescence-in-situ-hybridization) for the chromosomal region 17q23.3. In 20/22 (90.1%) specimens, the tumor samples harboured a significant deletion in the chromosomal region 17q (range: 10 to 63% of the cells). In 3/3 (100%) cases, deletion in the 17q chromosomal region was detectable in the primary tumor. In the tumor evolution, there was no steady in- or decrease in the percentage of this deletion. Conclusion:Deletion in the 17q chromosomal region was present in the patients' primary tumors as well as in late recurrences. Overall, a significant deletion in the 17q chromosomal region was detected in 90.1% of the tumors. Thus, the authors assume that deletion in the 17q chromosomal region displays rather an early event in meningioma progression. Accordingly, deletion in the 17q chromosomal region might clinically serve as a potential early marker for malignancy and a higher risk for recurrence in meningiomas.
journal_name
Mol Cytogenetjournal_title
Molecular cytogeneticsauthors
Hemmer S,Urbschat S,Oertel J,Ketter Rdoi
10.1186/s13039-019-0434-4subject
Has Abstractpub_date
2019-05-24 00:00:00pages
22issn
1755-8166pii
434journal_volume
12pub_type
杂志文章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
更新日期:2017-02-02 00:00:00
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
更新日期:2013-03-19 00:00:00
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
更新日期:2014-11-19 00:00:00
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
更新日期:2016-07-25 00:00:00
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
更新日期:2013-11-05 00:00:00
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
更新日期:2018-05-09 00:00:00
abstract:BACKGROUND:Cumulative evidence suggests that DNA secondary structures impact DNA replication, transcription and genomic rearrangements. One of the best studied examples is the recurrent constitutional t(11;22) in humans that is mediated by potentially cruciform-forming sequences at the breakpoints, palindromic AT-rich ...
journal_title:Molecular cytogenetics
pub_type: 杂志文章
doi:10.1186/1755-8166-4-18
更新日期:2011-09-08 00:00:00
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
更新日期:2015-10-14 00:00:00
abstract:BACKGROUND:The well-known typical fusion gene BCR/ABL can be observed in connection with a complex translocation event in only 2-10% of cases with chronic myeloid leukemia (CML). As currently most CML cases are treated with Imatinib, variant rearrangements have in general no specific prognostic significance, though the...
journal_title:Molecular cytogenetics
pub_type: 杂志文章
doi:10.1186/1755-8166-2-21
更新日期:2009-11-09 00:00:00
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
更新日期:2016-01-22 00:00:00
abstract:Background:The most frequent cytogenetic abnormality detected in chronic lymphocytic leukemia (CLL) patients is the presence of a deletion within the chromosome band 13q14. Deletions can be heterogeneous in size, generally encompassing the DLEU1 and DLEU2 genes (minimal deleted region), but at times also including the ...
journal_title:Molecular cytogenetics
pub_type:
doi:10.1186/s13039-019-0417-5
更新日期:2019-01-31 00:00:00
abstract:BACKGROUND:The 4q- syndrome is a well known genetic condition caused by a partial terminal or interstitial deletion in the long arm of chromosome 4. The great variability in the extent of these deletions and the possible contribution of additional genetic rearrangements, such as unbalanced translocations, lead to a wid...
journal_title:Molecular cytogenetics
pub_type: 杂志文章
doi:10.1186/1755-8166-6-47
更新日期:2013-10-31 00:00:00
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
更新日期:2018-10-19 00:00:00
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
更新日期:2015-12-30 00:00:00
abstract:Background:Copy number variation (CNV) is a complex genomic rearrangement that has been linked to a large number of human diseases. Chromosome 15q13 microduplication is a rare form of CNV, which has been proved to be associated with multiple human disorders; however, the association between chromosome 15q13 microduplic...
journal_title:Molecular cytogenetics
pub_type:
doi:10.1186/s13039-019-0437-1
更新日期:2019-05-27 00:00:00
abstract:BACKGROUND:Ring chromosomes are normally associated with developmental anomalies and are rarely inherited. An exception to this rule is provided by deletion/ring cases. We were provided with a unique opportunity to investigate the meiotic segregation at oogenesis in a woman who is a carrier of a deleted/ring 22 chromos...
journal_title:Molecular cytogenetics
pub_type: 杂志文章
doi:10.1186/1755-8166-2-3
更新日期:2009-01-23 00:00:00
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
更新日期:2013-10-16 00:00:00
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
更新日期:2018-02-05 00:00:00
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 Comparat...
journal_title:Molecular cytogenetics
pub_type: 杂志文章
doi:10.1186/1755-8166-5-41
更新日期:2012-11-15 00:00:00
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
更新日期:2018-01-18 00:00:00
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
更新日期:2015-10-01 00:00:00
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
更新日期:2009-09-26 00:00:00
abstract:Background:22q11.2 deletion syndrome (22q11.2DS) and 22q11.2 duplication syndrome (22q11.2DupS) are the most common copy number variations in humans. The clinical phenotypes of these two syndromes are variable, and there are no large sample data on the prenatal detection rate for these two syndromes in the Chinese popu...
journal_title:Molecular cytogenetics
pub_type: 杂志文章
doi:10.1186/s13039-020-00498-y
更新日期:2020-07-08 00:00:00
abstract:Background:Full or partial monosomy of chromosome (chr) 21 is a very rare abnormal cytogenetic finding. It is characterized by variable sizes and deletion breakpoints on the long arm (q) of chr 21 that lead to a broad spectrum of phenotypes that include an increased risk of birth defects, developmental delay and intell...
journal_title:Molecular cytogenetics
pub_type:
doi:10.1186/s13039-020-00513-2
更新日期:2020-09-12 00:00:00
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
更新日期:2010-06-29 00:00:00
abstract:BACKGROUND:Heterochromatic variants of pericentromere of chromosome 9 are reported and discussed since decades concerning their detailed structure and clinical meaning. However, detailed studies are scarce. Thus, here we provide the largest ever done molecular cytogenetic research based on >300 chromosome 9 heteromorph...
journal_title:Molecular cytogenetics
pub_type: 杂志文章
doi:10.1186/1755-8166-6-14
更新日期:2013-04-01 00:00:00
abstract:Background:Chromosomal rearrangements in addition to t(15;17) have been reported in 25-40% of APL patients, with a large predominance of trisomy 8. Other abnormalities are far less frequent, particularly as ider(17), and the prognostic significance is still unclear. Case presentation:We present the case of a patient w...
journal_title:Molecular cytogenetics
pub_type:
doi:10.1186/s13039-020-00479-1
更新日期:2020-04-10 00:00:00
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
更新日期:2011-02-28 00:00:00
abstract:BACKGROUND:Rubus is a large and taxonomically complex genus exhibiting agamospermy, polyploidy and frequent hybridization. The objective of this work was to elucidate rDNA disrtibution pattern and investigate genomic composition of polyploids in 16 Rubus taxa (2n = 2x, 3x, 4x, 8x) of two subgenera Idaeobatus and Malach...
journal_title:Molecular cytogenetics
pub_type: 杂志文章
doi:10.1186/s13039-015-0114-y
更新日期:2015-02-03 00:00:00
abstract:BACKGROUND:The heterogeneous group of small supernumerary marker chromosomes (sSMCs) presents serious counseling problems, especially if they are present de novo and diagnosed prenatally. The incidence has been estimated at 1 in 1000 prenatal samples. We present a case of mosaic sSMC diagnosed prenatally after amniocen...
journal_title:Molecular cytogenetics
pub_type: 杂志文章
doi:10.1186/1755-8166-2-1
更新日期:2009-01-07 00:00:00