FISH molecular testing in cytological preparations from solid tumors.


: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 cytology in spite of the remarkable promiscuity of cancer genes. Indeed, although it is a low-throughput assay, fluorescence in situ hybridization enables the direct disclosure and localization of genetic markers in single nuclei. Gene fusions are among the most prominent genetic alterations in cancer, providing markers that may be determinant in needle biopsies that are negative or suspicious for malignancy, and may contribute to the correct classification of the tumors. In view of the expanding use of fluorescence in situ hybridization in cytology, future challenges include automated sample evaluation and the specification of common criteria for interpreting and reporting results.


Mol Cytogenet


Molecular cytogenetics


Caria P,Vanni R




Has Abstract


2014-08-22 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


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

    更新日期:2018-10-19 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



    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

  • Jumping translocations of chromosome 1q occurring by a multi-stage process in an acute myeloid leukemia progressed from myelodysplastic syndrome with a TET2 mutation.

    abstract:Background:Jumping translocations (JTs) are rare chromosome rearrangements characterized by re-localization of one donor chromosome to multiple recipient chromosomes. Here, we describe an acute myeloid leukemia (AML) that progressed from myelodysplastic syndrome (MDS) in association with acquisition of 1q JTs. The sequ...

    journal_title:Molecular cytogenetics



    authors: Lee I,Gudipati MA,Waters E,Duong VH,Baer MR,Zou Y

    更新日期:2019-11-19 00:00:00

  • GSTM1 copy number variation in the context of single nucleotide polymorphisms in the human GSTM cluster.

    abstract:BACKGROUND:GSTM1 gene deletion is one of the most known copy number polymorphisms in human genome. It is most likely caused by homologous recombination between the repeats flanking the gene. However, taking into account that the deletion has no crucial effects on human well-being, and the ability of other GSTMs to comp...

    journal_title:Molecular cytogenetics

    pub_type: 杂志文章


    authors: Khrunin AV,Filippova IN,Aliev AM,Tupitsina TV,Slominsky PA,Limborska SA

    更新日期:2016-04-19 00:00:00

  • Early detection of Angelman syndrome resulting from de novo paternal isodisomic 15q UPD and review of comparable cases.

    abstract:BACKGROUND:Angelman syndrome is a rare neurogenetic disorder that results in intellectual and developmental disturbances, seizures, jerky movements and frequent smiling. Angelman syndrome is caused by two genetic disturbances: either genes on the maternally inherited chromosome 15 are deleted or inactivated or two pate...

    journal_title:Molecular cytogenetics



    authors: Horváth E,Horváth Z,Isaszegi D,Gergev G,Nagy N,Szabó J,Sztriha L,Széll M,Endreffy E

    更新日期:2013-09-08 00:00:00

  • Novel complex translocation involving 5 different chromosomes in a chronic myeloid leukemia with Philadelphia chromosome: a case report.

    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


    authors: Al Achkar W,Wafa A,Mkrtchyan H,Moassass F,Liehr T

    更新日期:2009-11-09 00:00:00

  • Genomic instability in a chronic lymphocytic leukemia patient with mono-allelic deletion of the DLEU and RB1 genes.

    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



    authors: Nava-Rodríguez MP,Domínguez-Cruz MD,Aguilar-López LB,Borjas-Gutiérrez C,Magaña-Torres MT,González-García JR

    更新日期:2019-01-31 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


    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

  • 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



    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

  • 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 Comparat...

    journal_title:Molecular cytogenetics

    pub_type: 杂志文章


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

    更新日期:2012-11-15 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


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

    更新日期:2010-06-29 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


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

    更新日期:2017-02-02 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


    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

  • A feasible diagnostic approach for the translocation carrier from the indication of products of conception.

    abstract:Background:Chromosome translocations are rare but frequently associated with infertility. The objective of this study is to investigate the feasibility of using chromosomal microarray analysis (CMA) on products of conception (POC) samples as an indicator of parental balanced translocation. From January 2011 to December...

    journal_title:Molecular cytogenetics

    pub_type: 杂志文章


    authors: Qian YQ,Fu XY,Wang XQ,Luo YQ,Chen M,Yan K,Yang YM,Liu B,Wang LY,Huang YZ,Li HG,Pan HY,Jin F,Dong MY

    更新日期:2018-01-30 00:00:00

  • Characterization of a prenatally assessed de novo supernumerary minute ring chromosome 20 in a phenotypically normal male.

    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


    authors: Kitsiou-Tzeli S,Manolakos E,Lagou M,Kontodiou M,Kosyakova N,Ewers E,Weise A,Garas A,Orru S,Liehr T,Metaxotou A

    更新日期:2009-01-07 00:00:00

  • Phylogenetic insight into subgenera Idaeobatus and Malachobatus (Rubus, Rosaceae) inferring from ISH analysis.

    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


    authors: Wang Y,Wang X,Chen Q,Zhang L,Tang H,Luo Y,Liu Z

    更新日期:2015-02-03 00:00:00

  • Parental origin of deletions and duplications - about the necessity to check for cryptic inversions.

    abstract:Background:Copy number variants (CNVs) are the genetic bases for microdeletion/ microduplication syndromes (MMSs). Couples with an affected child and desire to have further children are routinely tested for a potential parental origin of a specific CNV either by molecular karyotyping or by two color fluorescence in sit...

    journal_title:Molecular cytogenetics

    pub_type: 杂志文章


    authors: Liehr T,Schreyer I,Kuechler A,Manolakos E,Singer S,Dufke A,Wilhelm K,Jančušková T,Čmejla R,Othman MAK,Al-Rikabi AH,Mrasek K,Ziegler M,Kankel S,Kreskowski K,Weise A

    更新日期:2018-03-09 00:00:00

  • Chromosome 15q13 microduplication in a fetus with cardiac rhabdomyoma: a case report.

    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



    authors: Lin CZ,Qi BR,Hu JS,Huang YD,Huang XQ

    更新日期:2019-05-27 00:00:00

  • De novo duplication of chromosome 16p in a female infant with signs of neonatal hemochromatosis.

    abstract::Reported cases of "pure" duplication of the entire short arm of chromosome 16 (16p) are rare, with only 7 patients described in the literature. We report on a female infant with de novo 16p duplication localized to the short arm of chromosome 6, detected by chromosomal analysis and characterized by array CGH and fluor...

    journal_title:Molecular cytogenetics



    authors: Schwaibold EM,Bartels I,Küster H,Lorenz M,Burfeind P,Adam R,Zoll B

    更新日期:2014-01-23 00:00:00

  • Kleefstra syndrome in Hungarian patients: additional symptoms besides the classic phenotype.

    abstract:BACKGROUND:Kleefstra syndrome is a rare genetic disorder, with core phenotypic features encompassing developmental delay/intellectual disability, characteristic facial features - brachy(micro)cephaly, unusual shaped eyebrows, flat face with hypertelorism, short nose with anteverted nostrils, thickened lower lip, carpmo...

    journal_title:Molecular cytogenetics



    authors: Hadzsiev K,Komlosi K,Czako M,Duga B,Szalai R,Szabo A,Postyeni E,Szabo T,Kosztolanyi G,Melegh B

    更新日期:2016-02-25 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


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

    更新日期:2015-10-24 00:00:00

  • Heteromorphic variants of chromosome 9.

    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


    authors: Kosyakova N,Grigorian A,Liehr T,Manvelyan M,Simonyan I,Mkrtchyan H,Aroutiounian R,Polityko AD,Kulpanovich AI,Egorova T,Jaroshevich E,Frolova A,Shorokh N,Naumchik IV,Volleth M,Schreyer I,Nelle H,Stumm M,Wegner RD,Rei

    更新日期:2013-04-01 00:00:00

  • Identifying novel genetic alterations in pediatric acute lymphoblastic leukemia based on copy number analysis.

    abstract::Copy number variations (CNVs) analysis may reveal molecular biomarkers and provide information on the pathogenesis of acute lymphoblastic leukemia (ALL). We investigated the gene copy number in childhood ALL by microarray and select three new recurrent CNVs to evaluate by real-time PCR assay: DMBT1, KIAA0125 and PRDM1...

    journal_title:Molecular cytogenetics

    pub_type: 杂志文章


    authors: Batista-Gomes JA,Mello FAR Jr,de Oliveira EHC,de Souza MPC,Wanderley AV,da Costa Pantoja L,Dos Santos NPC,Khayat BCM,Khayat AS

    更新日期:2020-06-26 00:00:00

  • A rare case of acute promyelocytic leukemia with ider(17)(q10)t(15;17)(q22;q21) and favorable outcome.

    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



    authors: Liu Y,Xu J,Chu L,Yu L,Zhang Y,Ma L,Wang W,Zhang Y,Xu Y,Liu R

    更新日期:2020-04-10 00:00:00

  • Deletions in the 17q chromosomal region and their influence on the clonal cytogenetic evolution of recurrent meningiomas.

    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 ...

    journal_title:Molecular cytogenetics

    pub_type: 杂志文章


    authors: Hemmer S,Urbschat S,Oertel J,Ketter R

    更新日期:2019-05-24 00:00:00

  • Overexpression of the proneural transcription factor ASCL1 in chronic lymphocytic leukemia with a t(12;14)(q23.2;q32.3).

    abstract:Background:Translocations of the IGH locus on 14q32.3 are present in about 8% of patients with chronic lymphocytic leukemia (CLL) and contribute to leukemogenesis by deregulating the expression of the IGH-partner genes. Identification of these genes and investigation of the downstream effects of their deregulation can ...

    journal_title:Molecular cytogenetics



    authors: Malli T,Rammer M,Haslinger S,Burghofer J,Burgstaller S,Boesmueller HC,Marschon R,Kranewitter W,Erdel M,Deutschbauer S,Webersinke G

    更新日期:2018-01-11 00:00:00

  • Meiotic and mitotic behaviour of a ring/deleted chromosome 22 in human embryos determined by preimplantation genetic diagnosis for a maternal carrier.

    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


    authors: Mantzouratou A,Mania A,Apergi M,Laver S,Serhal P,Delhanty J

    更新日期:2009-01-23 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



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

    更新日期:2015-06-25 00:00:00

  • A familial chromosomal complex rearrangement confirms RUNX1T1 as a causative gene for intellectual disability and suggests that 1p22.1p21.3 duplication is likely benign.

    abstract:Background:Complex chromosomal rearrangements are constitutive structural aberrations involving three or more breaks. They can be balanced or unbalanced and result in different outcomes, depending on deletion/duplication of genomic material, gene disruption, or position effects. Case presentation:We report on a patien...

    journal_title:Molecular cytogenetics



    authors: Restaldi F,Alesi V,Aquilani A,Genovese S,Russo S,Coletti V,Pompili D,Falasca R,Dallapiccola B,Capolino R,Luciani M,Novelli A

    更新日期:2019-06-14 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



    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