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New Variant Translocation (8;9;21)(q22;p24;q22) in a Patient with Granulocytic Sarcoma Concurrent with Acute Myeloid Leukemia  [PDF]
Gmidène Abir, Wahchi Ines, Meksi Sondes, Jeddi Ramzi, Meddeb Balkis, Saad Ali, Sennana Hlima
Open Journal of Blood Diseases (OJBD) , 2014, DOI: 10.4236/ojbd.2014.44006
Abstract: Granulocytic sarcoma is a form of acute myeloid leukemia which may occur in any anatomical site. Isolated pancreatic granulocytic sarcoma is however, extremely rare. Translocation t(8;21) is the most common cytogenetic abnormality found in leukemia patients with granulocytic sarcoma and is associated with a relatively good prognosis when treated with chemotherapy. Variants of the t(8;21) are uncommon and account for approximately 3% to 4% of acute myeloid leukemia associated with t(8;21) and are rarely described in acute myeloid leukemia cases associated with granulocytic sarcoma. We report here a patient with acute myeloid leukemia and a novel variant t(8;9;21)(q22;p24;q22) with suspected granulocytic sarcoma in pancreas. A dual-color fluorescence in situ hybridization analysis with RUNX1T1 and RUNX1 probes, revealed the presence of an RUNX1/RUNX1T1 fusion signal in this translocation. To the best of our knowledge, a variant of t(8;21) in GS was rarely described and the involvement of the 9q22 region is the first time described here even in isolated AML-M2. We conclude that further accumulation of similar cases is needed and that genetic exploring of variants of t(8;21) may be helpful for a better understanding of molecular pathogenetic mechanism.
Autistic disorder associated with a paternally derived unbalanced translocation leading to duplication of chromosome 15pter-q13.2: a case report
David J Wu, Nicholas J Wang, Jennette Driscoll, Naghmeh Dorrani, Dahai Liu, Marian Sigman, N Carolyn Schanen
Molecular Cytogenetics , 2009, DOI: 10.1186/1755-8166-2-27
Abstract: The association of maternally derived chromosome 15 duplications and autism spectrum disorders (ASD) has been well defined (reviewed in [1]). The classic duplications and deletions in this region involve non-allelic homologous recombination events between a group of low copy repeats (LCR) located on the proximal long arm that generate common breakpoints (BP) in most of the derivative chromosomes [2]. Because most duplications are maternally derived and the region is subject to genomic imprinting, much of the focus for the duplication phenotypes has been on the maternally expressed transcripts although it is likely that the full phenotype arises from contiguous gene effects, also involving the biallelically expressed genes included in the duplication chromosomes.The phenotypic consequences of paternally derived duplications are not well delineated. Idic(15) chromosomes are almost exclusively maternally derived with the only known paternally derived idic(15) chromosomes occurring in mosaic form in association with maternal uniparental disomy and Prader Willi syndrome (PWS) [3,4]. Other paternally derived duplications of this region are interstitial rearrangements that were identified in familial cases in which a phenotypically normal mother transmitted a paternally derived duplication chromosome, leading to ASD in the child [5]. Rare cases of paternal duplications associated with developmental delays and possibly ASD have been reported [6,7]. Here we describe a case of an autistic boy who is trisomic for 15pter-q13.2 and 9q34.12-qter because of a segregation error leading to transmittance of two copies of a balanced paternal translocation chromosome derived from chromosomes 9 and 15. His behavioral profile overlaps the duplication 15q11.2-q13.2 phenotype including the presence of autism, suggesting that the maternally expressed genes on chromosome 15q are not solely responsible for the ASD phenotype. Notably, he is trisomic for distal 9q, however, neither deletions no
Adult B lymphoblastic leukaemia/lymphoma with hypodiploidy (-9) and a novel chromosomal translocation t(7;12)(q22;p13) presenting with severe eosinophilia – case report and review of literature
Farhat Bhatti, Iftikhar Hussain, Muhammad Ali
Journal of Hematology & Oncology , 2009, DOI: 10.1186/1756-8722-2-26
Abstract: Severe eosinophilia, defined as eosinophil count > 5000/μl, can be seen in helminthic infections, allergic disorders, lymphoproliferative disorders, chronic myeloid leukemia, and chronic eosinophilic leukaemia[1]. A history of allergic disorders, exposure to helminthic infestations, passage of worms in feces, drug intake, weight loss, fever, cough, diarrhoea and skin rash need to be complemented with proper clinical examination to delineate the likely cause of eosinophilia. Extensive investigations, which include stool examination, chest X Ray, ultrasound abdomen, CT scan, bone marrow aspiration/biopsy and cytogenetic studies, are required to know the etiology and differentiate between 'reactive' or 'clonal' eosinophilia.' Severe eosinophilia may occur several years before the onset of haematological malignancy, like in Hodgkin lymphoma[2], and may pose a diagnostic dilemma.Precursor B acute lymphoblastic leukemia with exaggerated eosinophilia is a rare entity with less than 50 cases reported since 1973, when it was first described by Spitzer and Garson [3,4]. In most patients, the characteristic feature of ALL with eosinophilia is the absence of blasts in the peripheral blood film. This could lead to delay in the diagnosis, if bone marrow aspiration is not done and the patient is started on steroid therapy. The most common cytogenetic abnormality encountered in acute lymphoblastic leukemia with eosinophilia is t(5;14), and is characterized by overproduction of IL-3 [5]. The latter entity is now included as 'B lymphoblastic leukemia/lymphoma with t(5;14); IL3-IGH' in new WHO classification of lymphoid neoplasms published in 2008 [6].In the following case report, diagnosis and management of a young male is discussed who suffered from precursor B acute lymphoblastic leukemia with severe eosinophilia, and a unique cytogenetic abnormality 45,XY,t(7;12)(q22;p13),-9, reported for the first time.A 31 years old male presented with history of aches and pains in whole body es
Three way translocation in a new variant of t(8;21) acute myeloid leukemia involving Xp22  [cached]
Vundinti B,Kerketta L,Madkaikar M,Jijina F
Indian Journal of Cancer , 2008,
Abstract: The t(8;21)(q22;q22) is one of the most frequent chromosomal abnormality associated with acute myeloid leukemia (AML) M2 sub type. The additional chromosomal abnormalities including structural and numerical are frequently reported with the translocation, t (8;21)(q22;q22). We report a case of AML-M2 with t(X;8;21)(p22;q22;q22) associated with loss of Y chromosome. Using a dual color fluorescence in situ hybridization (FISH) analysis with ETO and AML1 probes, we demonstrated an ETO/AML1 fusion signal on the derivative chromosome 8 and one ETO signal on derivative Chromosome Xp22. The patient did not respond to therapy and follow-up of cytogenetics revealed same chromosome abnormality. Hence, this three way translocation involving X chromosome might be associated with poor prognosis.
Acute myeloid leukemia with t(8;21)(q22;q22) preceded by breast granulocytic sarcoma
Rocha Filho, Francisco D.;Lima, Gabrielle G.;Ferreira, Francisco V.;Miranda, Nadjane B. A.;Santos, Franklin J. C.;Vieira, Andrea A.;Messias, Nídia C.;
Revista Brasileira de Hematologia e Hemoterapia , 2008, DOI: 10.1590/S1516-84842008000500020
Abstract: granulocytic sarcoma (gs) is a rare extramedullary tumor mass composed of immature cells derived from the hematopoietic myeloid series. it is usually associated with leukemia and other myeloproliferative disorders but can also occur without overt hematologic diseases. the breast has been reported to be an uncommon site of presentation. we report a case of acute myeloid leukemia preceded by gs of the breast. the immunohistochemistry revealed myeloperoxidase, cd68 and cd43 positivity, thus indicating a diagnosis of gs. conventional cytogenetic analysis of peripheral blood cells showed t(8;21)(q22;22). complete remission was achieved with daunorubicin and cytarabine induction therapy followed by three courses of high-dose cytarabine consolidation. the patient remains in continuous complete remission at 27 months.
Maternally and Paternally Silenced Imprinted Genes Differ in Their Intron Content  [PDF]
Marie E. Fahey,Walter Mills,Desmond G. Higgins,Tom Moore
Comparative and Functional Genomics , 2004, DOI: 10.1002/cfg.437
Abstract: Imprinted genes exhibit silencing of one of the parental alleles during embryonic development. In a previous study imprinted genes were found to have reduced intron content relative to a non-imprinted control set (Hurst et al., 1996). However, due to the small sample size, it was not possible to analyse the source of this effect. Here, we re-investigate this observation using larger datasets of imprinted and control (non-imprinted) genes that allow us to consider mouse and human, and maternally and paternally silenced, imprinted genes separately. We find that, in the human and mouse, there is reduced intron content in the maternally silenced imprinted genes relative to a non-imprinted control set. Among imprinted genes, a strong bias is also observed in the distribution of intronless genes, which are found exclusively in the maternally silenced dataset. The paternally silenced dataset in the human is not different to the control set; however, the mouse paternally silenced dataset has more introns than the control group. A direct comparison of mouse maternally and paternally silenced imprinted gene datasets shows that they differ significantly with respect to a variety of intron-related parameters. We discuss a variety of possible explanations for our observations.
Detection of Chromosome X;18 Breakpoints and Translocation of the Xq22.3;18q23 Regions Resulting in Variable Fertility Phenotypes
Attila Szvetko,Nicole Martin,Chris Joy,Andrea Hayward,Bob Watson,Andrew Cary,Stephen Withers
Case Reports in Genetics , 2012, DOI: 10.1155/2012/681747
Abstract: We describe a familial pattern of gonosomal-autosomal translocation between the X and 18 chromosomes, balanced and unbalanced forms, in male and female siblings. The proposita was consulted for hypergonadotropic hypogonadism. Karyotype analysis revealed a balanced 46, X, t(X;18)(q22.3;q23) genotype. The sister of the proband presented with oligomenorrhea with irregular menses and possesses an unbalanced form of the translocation 46, X, der(X), t(X;18)(q22.3;q23). The brother of the proband was investigated and was found to possess the balanced form of the same translocation, resulting in disrupted spermatogenesis. Maternal investigation revealed the progenitor karyotype 46, X, t(X;18)(q22.3;q23). Maternal inheritance and various genomic events contributed to the resultant genotypes. Primary infertility was initially diagnosed in all progeny; however, the male individual recently fathered twins. We briefly review the mechanisms associated with X;18 translocations and describe a pattern of inheritance, where breakpoints and translocation of the Xq22.3;18q23 regions have resulted in variable fertility.
A Balanced Reciprocal Translocation Case in Family with a History of Recurrent Abortions  [PDF]
Mahmut Balkan,M. Nail Alp,Turgay Budak
Dicle Medical Journal , 2008,
Abstract: In this study, we are presenting the results of cytogenetic analysis and molecular cytogenetic analysis of the couple and their family, who were referred to our genetic diagnostic laboratory with two abortions in their reproductive history. We found a normal karyotype (46,XX) in female, and balanced reciprocal translocation [46,XY,t(3;18)(p25;p11.3)] in the male. To determine the parental origin of translocation, we examined the individuals of the family, and we found that the translocation: [46,XY,t(3;18)(p25;p11.3)] is paternally inherited. We concluded that the abortions in the history of this carrier family might be due to the unbalanced distribution of translocation, during gamete formation, prenatal diagnosis recommended for their further pregnancies.
NNAT and DIRAS3 genes are paternally expressed in pigs  [cached]
Cheng Huan-Chen,Zhang Feng-Wei,Deng Chang-Yan,Jiang Cao-De
Genetics Selection Evolution , 2007, DOI: 10.1186/1297-9686-39-5-599
Abstract: Although expression and epigenetic differences of imprinted genes have been extensively characterised in man and the mouse, little is known on livestock species. In this study, the polymorphism-based approach was used to detect the imprinting status of NNAT and DIRAS3 genes in five heterozygous pigs (based on SNP) of Large White and Meishan F1 hybrids. The results show that both genes were paternally expressed in all the tested tissues (heart, liver, spleen, lung, kidney, stomach, small intestine, skeletal muscle, fat, uterus, ovary and pituitary). In addition, the NNAT gene had two transcripts in all tested tissues, which is consistent with its counterpart in man and cattle.
A balanced t(5;17) (p15;q22-23) in chondroblastoma: frequency of the re-arrangement and analysis of the candidate genes
Salvatore Romeo, Karoly Szuhai, Isao Nishimori, Marije Ijszenga, Pauline Wijers-Koster, Antonie HM Taminiau, Pancras CW Hogendoorn
BMC Cancer , 2009, DOI: 10.1186/1471-2407-9-393
Abstract: A balanced t(5;17)(p15;q22-23) was identified. In the index case, interphase FISH showed that the translocation was present only in mononucleated cells and was absent in the characteristic multinucleated giant cells. The t(5;17) translocation was not observed in the other cases studied. The breakpoint in 5p15 occurred close to the steroid reductase 5α1 (SRD5A1) gene. Expression of the protein was found in all cases tested. Similar expression was found for the sex steroid signalling-related molecules oestrogen receptor alpha and aromatase, while androgen receptors were only found in isolated cells in a few cases. The breakpoint in 17q22-23 was upstream of the carbonic anhydrase × (CA10) gene region and possibly involved gene-regulatory elements, which was indicated by the lack of CA10 protein expression in the index case. All other cases showed variable levels of CA10 expression, with low expression in three cases.We report a novel t(5;17)(p15;q22-23) translocation in chondroblastoma without involvement of any of the two chromosomal regions in other cases studied. Our results indicate that the characteristic multinucleated giant cells in chondroblastoma do not have the same clonal origin as the mononuclear population, as they do not harbour the same translocation. We therefore hypothesise that they might be either reactive or originate from a distinct neoplastic clone, although the occurrence of two distinct clones is unlikely. Impairment of the CA10 gene might be pathogenetically relevant, as low expression was found in four cases. Diffuse expression of SRD5A1 and sex steroid signalling-related molecules confirms their role in neoplastic chondrogenesis.Chondroblastoma is a benign bone tumour that mainly affects the epiphysis of long bones in young males (male to female ratio 1.5:1; peak of occurrence: second decade) [1-3]. Its nomenclature stems from the presence of cells resembling immature cartilage cells (chondroblasts) set within a distinctive and heterogeneous
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