Journal of the Association of Genetic Technologists最新文献_第9页

Journal of the Association of Genetic Technologists Pub Date : 2019-01-01

Jordan A Helmer, Rocio Iraburu, Carlos A Tirado

引用次数: 0

Shox and Awe: A Case of Variant Turner Syndrome with an Unusual Phenotype. Shox和Awe:一个不寻常表型的变异特纳综合征病例。

Journal of the Association of Genetic Technologists Pub Date : 2019-01-01

Clayton LaValley, Katherine Devitt, Juli-Anne Gardner

引用次数: 0

The Ups and Downs When TLX-1 and Other Transcriptional Modulators Abound: A Case of T-ALL with a Transcriptionally Complex Set of Mutations. 当TLX-1和其他转录调节剂大量存在时的起起落落:一组转录复杂突变的T-ALL病例。

Journal of the Association of Genetic Technologists Pub Date : 2019-01-01

Liam Donnelly, Katherine Devitt, Juli-Anne Gardner

{"title":"The Ups and Downs When TLX-1 and Other Transcriptional Modulators Abound: A Case of T-ALL with a Transcriptionally Complex Set of Mutations.","authors":"Liam Donnelly, Katherine Devitt, Juli-Anne Gardner","doi":"","DOIUrl":"","url":null,"abstract":"Objectives: Acute T-lymphoblastic leukemia (T-ALL) is a malignancy of immature T-cells in children and adults and although it occurs less frequently than B-ALL, it carries a worse prognosis, especially after relapse. Molecular characterization and subtyping of T-ALL has begun to reveal vital insights into the complex biology of T-ALL and has prognostic and therapeutic implications. We present a case of a 19-year-old male who was found to have an early cortical phenotype T-ALL with multiple cytogenetic and somatic mutations including t(10;14) TLX-1 translocation, 9p22 CDKN2A deletion and missense mutations in PHF6, NOTCH-1, and FBXW7. Characterization of the significance of these mutations reveals that PHF6 mutations occur more frequently in adult males in association with TLX-1 translocations and early cortical phenotypes with NOTCH-1 activating mutations. We show mechanistically that these alterations occur in concert with one another to drive cell growth, cell survival and cell cycle progression. While still in development, further characterization of T-ALL is essential to provide more prognostic and therapeutically useful information.","PeriodicalId":73975,"journal":{"name":"Journal of the Association of Genetic Technologists","volume":"45 4","pages":"175-179"},"PeriodicalIF":0.0,"publicationDate":"2019-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"37452849","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Molecular Cytogenetic Characterization of a Karyotype of a Female Patient with Secondary Amenorrhea with a Cell Line Showing 46,X,+mar. 1例女性继发性闭经患者46、X、+mar细胞系核型的分子细胞遗传学特征。

Journal of the Association of Genetic Technologists Pub Date : 2019-01-01

A Okabe, A Reyes, M Murphy, L Thomson, A M Nguyen, K Cunnien, D Serk, C A Tirado

{"title":"Molecular Cytogenetic Characterization of a Karyotype of a Female Patient with Secondary Amenorrhea with a Cell Line Showing 46,X,+mar.","authors":"A Okabe, A Reyes, M Murphy, L Thomson, A M Nguyen, K Cunnien, D Serk, C A Tirado","doi":"","DOIUrl":"","url":null,"abstract":"Objectives: Disorders of sex development (DSD) include a group of conditions in which genotypes do not correlate with the typical male and female phenotypes. Numerical and structural abnormalities involving both autosomes and sex chromosomes have been observed in DSD. Specifically, deletions, duplications, and translocations involving specific genes as well as point mutations and less common aberrations have been implicated in the pathogenesis of these conditions. Finally, recent advances in analytical tools, namely chromosomal microarrays and sequencing methods, have greatly enhanced the precision with which DSD are genetically characterized and phenotypically correlated. Herein we report a case of a 24-year-old female patient who presented with secondary amenorrhea. Cytogenetic studies of her peripheral blood showed an abnormal clone with 45,X in three cells and the other was initially observed by chromosome analysis as 46,X,+mar in 27 cells. Molecular cytogenetics were performed to characterize the marker chromosome that showed two copies of the SRY, two copies of the heterochromatin Yq12, and two copies of the Y centromere Yp11.1-q11.1 on the marker chromosome, resulting in the identification of an isodicentric Y chromosome. Females with a 46,XY karyotype have gonadal dysgenesis and typically present as mosaic, along with a 45,X cell line. Some show small deletions of the short arm of the Y chromosome. Further studies based on the clinical picture, as well as possible prophylactic gonadectomy due to an increased risk of gonadal malignancy, gonadoblastoma or dysgerminoma, are suggested. Genetic counseling was recommended.","PeriodicalId":73975,"journal":{"name":"Journal of the Association of Genetic Technologists","volume":"45 4","pages":"180-186"},"PeriodicalIF":0.0,"publicationDate":"2019-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"37452917","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Two Double-hit Lymphomas Cases: A Molecular Cytogenetic Approach. 两例双重打击淋巴瘤:分子细胞遗传学方法。

Journal of the Association of Genetic Technologists Pub Date : 2018-01-01

C Hernandez Torres, Carlos A Tirado

{"title":"Two Double-hit Lymphomas Cases: A Molecular Cytogenetic Approach.","authors":"C Hernandez Torres, Carlos A Tirado","doi":"","DOIUrl":"","url":null,"abstract":"Objectives: Double-hit lymphomas represent 5% of cases of diffuse large B-cell lymphomas (DLBCL). They are currently recognized as highgrade B-cell lymphomas (HGBCL) with rearrangements of MYC and BCL2 and/or BCL6 by the 2016 WHO classification. One of these rearrangements is the translocation of the BCL2 gene (18q21.33), which codes for an apoptotic inhibitor, to the immunoglobulin heavy chain gene (14q32). In rarer instances, a translocation of the BCL2 gene to the immunoglobulin light chain gene on 2p11 also occurs. Both of these rearrangements result in consistent expression of the BCL2 protein. Another rearrangement is the translocation of the MYC proto-oncogene (8q24.21) to the IGH gene (14q32), which results in the overactivation of MYC. A t(14;18) can drive a low-grade malignant lymphoma, which is commonly a follicular or DLBCL. However, the presence of a t(8;14) abnormality may result in a highgrade malignant lymphoma, such as Burkitt's lymphoma. Both translocations affecting MYC and BCL2 rarely occur in an identical cell, and this lymphoid malignancy is known as BCL2 and MYC double-hit lymphoma. The incidence of aggressive B-cell lymphomas other than Burkitt's with a MYC breakpoint is difficult to assess, mainly because the published cytogenetics data may be biased toward specific categories of lymphomas and not consider the BCL2 involvement. BCL6/MYC double-hit lymphomas are less common, and most of these cases represent triple-hit lymphomas with involvement of BCL2 as well. In this review, we summarize and discuss the significance of cytogenetic abnormalities found in HGBCL and discuss possible directions for future research. We present two patients with double-hit lymphomas as well as our molecular cytogenetic approach to check the presence of MYC and BCL6 rearrangements as well as a BCL2/ IGH fusion.","PeriodicalId":73975,"journal":{"name":"Journal of the Association of Genetic Technologists","volume":"44 4","pages":"141-145"},"PeriodicalIF":0.0,"publicationDate":"2018-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"36755866","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Mistaken identity: A Case for Karyotype Analysis Work-up of Soft Tissue Tumors. 误认:软组织肿瘤核型分析检查1例。

Journal of the Association of Genetic Technologists Pub Date : 2018-01-01

Justin Rueckert, Alexandra Kalof, Katherine Devitt, Juli-Anne Gardner

引用次数: 0

Tissue Specificity in Trisomy 22 Mosaicism: A Tale of Caution for Interpretation of Chromosomal Microarray Results. 22三体嵌合体的组织特异性:染色体微阵列结果解释的一个谨慎的故事。

Journal of the Association of Genetic Technologists Pub Date : 2018-01-01

Jeffrey D Covington, Calista Campbell, Leah W Burke, Juli-Anne Gardner

{"title":"Tissue Specificity in Trisomy 22 Mosaicism: A Tale of Caution for Interpretation of Chromosomal Microarray Results.","authors":"Jeffrey D Covington, Calista Campbell, Leah W Burke, Juli-Anne Gardner","doi":"","DOIUrl":"","url":null,"abstract":"Objectives: While the complete form of trisomy 22 is seemingly incompatible with life, the mosaic form is a rare syndrome associated with developmental delays, intellectual disability, and dysmorphic features. Due in part to the difficulty of analyzing chromosomal mosaicism, many instances either go undiagnosed or have their diagnosis delayed. We report a case of mosaic trisomy 22 in a diamnionic-dichorionic twin with marked growth discordance and intra-uterine growth restriction, diagnosed in a 2-year-old with developmental delays, sensorineural hearing loss, cardiac and gastrointestinal abnormalities, and osteopenia of prematurity. Evaluation with a chromosomal oligonucleotide microarray with SNP analysis did not detect any copy number variants. Fibroblast metaphase karyotype analysis from a skin biopsy, however, showed trisomy 22 which was confirmed by FISH. Follow-up peripheral blood karyotype analysis and FISH studies revealed a normal male karyotype. This case highlights an instance where classical cytogenetics from two separate tissue types can provide a diagnosis that is more cost-effective than microarray analysis in assessing pediatric developmental delay. Trisomy 22 is the second most common aneuploidy in spontaneous miscarriages and has a nondescript and variable phenotype, especially in cases of mosaicism. As such, this condition may be underdiagnosed using the current recommended testing algorithm. Chromosomal microarray is considered first tier testing in an unrecognized phenotype with whole exome or whole genome sequencing, often performed on peripheral blood, as second tier testing. Diagnoses such as mosaic trisomy 22 suggest the second tier of testing in undiagnosed cases should also include a recommendation to look at alternative tissue types.","PeriodicalId":73975,"journal":{"name":"Journal of the Association of Genetic Technologists","volume":"44 4","pages":"137-140"},"PeriodicalIF":0.0,"publicationDate":"2018-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"36755868","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

A t(18;22)(q21;q11) involving IGL/BCL2, A Rare Event in Chronic Lymphocytic Leukemia. A t(18;22)(q21;q11)参与IGL/BCL2在慢性淋巴细胞白血病中的罕见事件。

Journal of the Association of Genetic Technologists Pub Date : 2018-01-01

A Dowiak, Carlos A Tirado

{"title":"A t(18;22)(q21;q11) involving IGL/BCL2, A Rare Event in Chronic Lymphocytic Leukemia.","authors":"A Dowiak, Carlos A Tirado","doi":"","DOIUrl":"","url":null,"abstract":"Objectives: We report a 63-year-old male whose bone marrow morphology and flow cytometry showed evidence of B-Chronic Lymphocytic Leukemia (B-CLL). Chromosome analysis of the bone marrow showed an abnormal karyotype, described as 46,XY,t(18;22)(q21;q11.2)[19]/46,XY[1]. FISH analysis on interphase nuclei revealed an abnormal clone with loss of D13S319 (13q14.3) in 68.0% of the cells examined. Deletion of chromosome 13 is the most common cytogenetic abnormality identified in CLL (approximately 50% of CLL). Recent studies suggest that deletion of chromosome 13q14 in 65% or more nuclei by FISH is associated with an intermediate to unfavorable prognosis in CLL. The t(18;22)(q21;q11.2) present in this case, as well as the t(2;18)(p12;q21), are variants of the t(14;18)(q32;q21); all three are abnormalities in CLL. These abnormalities are found in less than 4% of CLL cases. They are usually present within the context of a complex karyotype in a subset of CLL, but can also be observed in cases of benign lymphocytosis. Herein, we report a t(18;22)(q21;q11.2) in a CLL patient as a sole cytogenetic abnormality by conventional cytogenetics, and with loss of 13q14.3, as determined by FISH. To the best of our knowledge, this is one of the few cases of its kind.","PeriodicalId":73975,"journal":{"name":"Journal of the Association of Genetic Technologists","volume":"44 2","pages":"49-53"},"PeriodicalIF":0.0,"publicationDate":"2018-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"36218903","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Renal Cell Carcinoma with monosomy 8: A Case Series and Review of the Literature. 肾细胞癌伴单体8:病例系列及文献回顾。

Journal of the Association of Genetic Technologists Pub Date : 2018-01-01

Justin Rueckert, Katherine Devitt, Juli-Anne Gardner

{"title":"Renal Cell Carcinoma with monosomy 8: A Case Series and Review of the Literature.","authors":"Justin Rueckert, Katherine Devitt, Juli-Anne Gardner","doi":"","DOIUrl":"","url":null,"abstract":"Objectives: Renal cell carcinoma (RCC) is a malignancy commonly encountered by both clinicians and pathologists. Different RCC subtypes are classified based on histologic features, immunohistochemistry profiles, and cytogenetic abnormalities. Accurate diagnosis of subtypes is important as it has prognostic and therapeutic implications. The most common RCC subtype is clear cell renal cell carcinoma (CCRCC); the most frequent genetic abnormalities associated with CCRCC are a deletion of the short arm of chromosome 3 involving 3p21 and mutations involving the Von Hippel-Lindau (VHL) gene. Advances in molecular pathology have identified additional molecular pathways leading to CCRCC. Researchers identified mutations of TCEB-1, monosomy 8, intact chromosome 3 and lack of VHL gene mutations in 4.7% of CCRCC. Additional evidence has been found recognizing RCC with monosomy 8 as a unique RCC subtype by describing cases with similar genetic profiles, non-specific immunohistochemistry, and histomorphology that overlapped with other known RCC types. At the University of Vermont Medical Center (UVMMC), conventional cytogenetics are obtained on all renal neoplasms. Three recent cases of RCC with monosomy 8, normal chromosome 3 morphology, clear cell cytology and non-specific immunohistochemistry profiles were identified. We present these cases to further document this unique subtype and highlight the importance of conventional cytogenetics in the diagnosis of renal cell carcinoma.","PeriodicalId":73975,"journal":{"name":"Journal of the Association of Genetic Technologists","volume":"44 1","pages":"5-9"},"PeriodicalIF":0.0,"publicationDate":"2018-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"35923439","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

A Plasma Cell Myeloma Case with an Abnormal Clone with a t(8;22)(q24.1;q11.2) Within the Context of a Hyperdiploid Complex Karyotype. 在超二倍体复杂核型的背景下，具有t(8;22)(q24.1;q11.2)异常克隆的浆细胞骨髓瘤病例。

Journal of the Association of Genetic Technologists Pub Date : 2018-01-01

Kristie Liu, Mitchell Friend, John Reinartz, Carlos A Tirado

{"title":"A Plasma Cell Myeloma Case with an Abnormal Clone with a t(8;22)(q24.1;q11.2) Within the Context of a Hyperdiploid Complex Karyotype.","authors":"Kristie Liu, Mitchell Friend, John Reinartz, Carlos A Tirado","doi":"","DOIUrl":"","url":null,"abstract":"Objectives: We report here a 74-year-old male who was seen for recurrent respiratory infections, fatigue, and weight loss in November 2016. Bone marrow biopsy showed 90% involvement by plasma cell myeloma (PCM) [90% plasma cells, 40% cellular bone marrow]. Cytogenetic analysis of the bone marrow showed a complex karyotype described as: 53,Y,add(X)(p22.1),del(1)(p13p22),+3,add(3)(p13),add(4)(p12),+6,del(6)(q13q25),t(8;22)(q24.1;q11.2),+9,+11,+15,+15,+21[7]/46,XY[13]. This particular pattern with deletion 1p, deletion 6q, and a t(8;22)(q24;q11.2) within the context of a complex karyotype is seen in PCM. Fluorescence in situ hybridization analysis on the CDC138 sample was positive for additional copies of CEP7 (centromere 7), CEP9 (centromere 9), CEP11 (centromere 11), and CEP15 (centromere 15), suggesting polysomy. FISH using the MYC Vysis break apart probe showed evidence of MYC rearrangement similar to the breakpoint site seen in Burkitt lymphoma with t(8;22)(q24;q11). FISH using the IGL break apart probe (Cytocell, Cambridge, UK) showed evidence of a 22q11.2 rearrangement. The signal pattern showed a residual green signal (BCR), a green signal on the derivative 8, and a red signal on the derivative 22, suggesting that the breakpoint at 22q11.2 in this patient was located downstream of the BCR region of the IGL gene. The variant Burkitt-type translocation, t(8;22)(q24;q11), is a very rare abnormality in PCM, and this case is one of only several reported to date. In these patients, MYC abnormalities appear late in the course of the disease and have an immature phenotype. A review of several cases in the literature suggests that this translocation leads the MYC gene under direct regulation of the enhancer of the partner gene, and in our case, the IGL or a nearby gene, thereby causing high level transcription of MYC. This abnormality is usually present within a complex karyotype and is associated with tumor progression and a poor prognosis.","PeriodicalId":73975,"journal":{"name":"Journal of the Association of Genetic Technologists","volume":"44 1","pages":"9-16"},"PeriodicalIF":0.0,"publicationDate":"2018-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"35923440","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0