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Journal of the Association of Genetic Technologists

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https://read.qxmd.com/read/30840602/shox-and-awe-a-case-of-variant-turner-syndrome-with-an-unusual-phenotype
#1
Clayton LaValley, Katherine Devitt, Juli-Anne Gardner
Turner syndrome was first described to encompass a shared set of physical features displayed by a subset of female patients including short stature and lack of sexual development. Half of cases are due to complete loss of an X chromosome, while the remainder are due to other alterations of the X chromosome that disrupt genes necessary for normal physical and sexual development. The SHOX gene, located at Xp22.33, is essential for the growth and maturation of bone, while genes on Xq are important for ovarian function...
2019: Journal of the Association of Genetic Technologists
https://read.qxmd.com/read/30840601/molecular-cytogenetic-characterization-of-a-case-of-a-myelodysplastic-myeloproliferative-neoplasm-chronic-myelomonocytic-leukemia-1-cmml-1-with-abnormal-karyotype-with-an-apparent-monosomy-7-resulting-in-rearrangements-involving-chromosomes-7-and-21
#2
David Chung, Andrew Reyes, Kevin T Stieglbauer, Carlos A Tirado
We report the case of a 69-year-old male with peripheral blood findings of persistent anemia, mild absolute monocytosis with mild dysgranulopoiesis, rare circulating blasts, and mild thrombocytopenia. Bone marrow biopsy revealed hypercellular bone marrow (60%) with 3.4% blasts and mild dysgranulopoiesis, morphologically characteristic of myelodysplastic/myeloproliferative neoplasm, chronic myelomonocytic leukemia-1 (CMML-1). Chromosome analysis revealed an abnormal karyotype with an apparent monosomy 7 and the presence of one marker chromosome...
2019: Journal of the Association of Genetic Technologists
https://read.qxmd.com/read/30840600/epigenetics-of-b-all
#3
Jordan A Helmer, Rocio Iraburu, Carlos A Tirado
Precursor B-cell acute lymphoblastic leukemia (B-ALL) is one of the most common neoplasms. It is characterized by genetic and epigenetic aberrations. The most remarkable mechanisms involved in epigenetic abnormalities are DNA methylation and acetylation. Methylation of CpG islands in promoter regions and acetylation of lysine residues regulate gene expression. Several studies have shown that patients with B-ALL show aberrant DNA methylation in a genome-wide scale. Histone deacetylases (HDAC) regulate gene expression by removing acetyl groups from lysine residues and histone acetyltransferase (HAT) adds acetyl groups...
2019: Journal of the Association of Genetic Technologists
https://read.qxmd.com/read/30533005/testicular-germ-cell-tumors-a-cytogenomic-update
#4
L Blanco, Carlos A Tirado
Testicular germ cell tumors (TGCT) are a rare neoplasia but are still the most common malignancy in males between the ages of 15 and 44. TGCTs can be divided into two main types: Seminomas (SE) and non-seminomas (NS), the latter with an earlier age of onset and a worst prognosis. One of the most consistent features of TGCTs is the gain of material in the short arm of chromosome 12, that occurs in almost 100% of TGCT cases; 80% of them involve the formation of an isochromosome of the short arm i(12p). This might be the key step that allows the lesion to progress from a germ cell neoplasia in situ (GCNIS), which is a microscopic finding preceding the TGCT and without gain in 12p, to a TGCT...
2018: Journal of the Association of Genetic Technologists
https://read.qxmd.com/read/30521494/tissue-specificity-in-trisomy-22-mosaicism-a-tale-of-caution-for-interpretation-of-chromosomal-microarray-results
#5
Jeffrey D Covington, Calista Campbell, Leah W Burke, Juli-Anne Gardner
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...
2018: Journal of the Association of Genetic Technologists
https://read.qxmd.com/read/30521493/unexplained-cytopenias-in-an-adolescent-you-gata-think-about-it
#6
Justin Rueckert, Heather Bradeen, Katherine Devitt, Juli-Anne Gardner
The GATA family of DNA binding proteins consists of six different transcription factors (GATA1-6), each with a diverse biologic function. The transcription factors GATA1-3 function primarily to orchestrate hematopoiesis; however, they have roles in non-hematopoietic cells as well. Much of our current knowledge of the GATA transcription factors has come through observation of disease states with known GATA mutations. The GATA2 protein has been shown to be vital for proliferation and maintenance of hematopoietic stem cells; mutations result in variable phenotypes including myelodysplastic syndrome...
2018: Journal of the Association of Genetic Technologists
https://read.qxmd.com/read/30521492/two-double-hit-lymphomas-cases-a-molecular-cytogenetic-approach
#7
C Hernandez Torres, Carlos A Tirado
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...
2018: Journal of the Association of Genetic Technologists
https://read.qxmd.com/read/30208014/the-role-of-mir-15a-and-mir-16-1-in-the-pathogenesis-of-chronic-lymphocytic-leukemia-and-the-importance-of-micrornas-in-targeted-therapies
#8
A Calva-Lopez, Carlos A Tirado
Chronic lymphocytic leukemia (CLL) is the most common type of hematological cancer diagnosed in human adults; however, it has been linked with a series of chromosomal abnormalities, the most common being deletion of 13q14. This chromosomal alteration leads to the deletion of the miR-15/16 cluster, as well as downregulation of DLEU7. Deletion of miR-15a and miR-16-1 causes overexpression of BCL2, an apoptosis suppressing protein, while the deletion of DLEU7 activates the NF-kB pathway. Both lead to the development of a pro-proliferative phenotype, an inhibition of apoptosis and prolonged cell life...
2018: Journal of the Association of Genetic Technologists
https://read.qxmd.com/read/30208013/mistaken-identity-a-case-for-karyotype-analysis-work-up-of-soft-tissue-tumors
#9
Justin Rueckert, Alexandra Kalof, Katherine Devitt, Juli-Anne Gardner
Soft tissue pathology encompasses a diverse range of benign and malignant soft tissue tumors. Definitive diagnosis is challenging due to the vast number of histologic subtypes (>100) and the potential for overlapping clinical, radiographic, histologic, and/or immunohistochemical features. Many institutions have moved away from cytogenetic analysis in the workup of soft tissue tumors; however, specific non-random cytogenetic abnormalities are characteristic of various tumor types and can reveal or confirm the diagnosis in challenging cases...
2018: Journal of the Association of Genetic Technologists
https://read.qxmd.com/read/30208012/a-t-3-8-q26-2-q24-involving-the-evi1-mecom-gene
#10
Kristie Liu, Carlos A Tirado
Polycythemia vera (PV) is a Philadelphia chromosome-negative myeloproliferative neoplasm (MPN) primarily characterized by increased red blood cell production. We report a case of a 68-year-old male with a history of PV. About four years later, the patient developed myelofibrosis. A bone marrow biopsy confirmed the presence of myelofibrosis confirmed by a hypercellular bone marrow (80%) with increased reticulin fibrosis (MF2-3), 5% blasts, and a normal 46,XY karyotype. A follow-up bone marrow biopsy documented acute myeloid leukemia (post-polycythemic myelofibrosis with acute leukemic transformation) with 20-30% blasts in the bone marrow...
2018: Journal of the Association of Genetic Technologists
https://read.qxmd.com/read/29897892/a-t-18-22-q21-q11-involving-igl-bcl2-a-rare-event-in-chronic-lymphocytic-leukemia
#11
A Dowiak, Carlos A Tirado
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...
2018: Journal of the Association of Genetic Technologists
https://read.qxmd.com/read/29897891/-lipoblastoma-has-a-nice-ring-to-it
#12
Justin Rueckert, Katherine Devitt, Alexandra Kalof, Juli-Anne Gardner
Lipoblastomas are benign tumors composed of fat cells of varying degrees of maturation, from lipoblasts to mature adipocytes. These tumors typically affect young children under the age of three. Upregulation of the pleomorphic adenoma gene 1 (PLAG1), located on 8q12.1, is the primary driving force for lipoblastoma development. The most common mechanisms for PLAG1 upregulation are rearrangements of 8q11-13 and polysomy 8. We present a unique case of lipoblastoma in a three-year-old boy with a ring chromosome 8...
2018: Journal of the Association of Genetic Technologists
https://read.qxmd.com/read/29550806/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
#13
Kristie Liu, Mitchell Friend, John Reinartz, Carlos A Tirado
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...
2018: Journal of the Association of Genetic Technologists
https://read.qxmd.com/read/29550805/renal-cell-carcinoma-with-monosomy-8-a-case-series-and-review-of-the-literature
#14
Justin Rueckert, Katherine Devitt, Juli-Anne Gardner
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...
2018: Journal of the Association of Genetic Technologists
https://read.qxmd.com/read/29211693/the-t-12-21-p13-q22-in-pediatric-b-acute-lymphoblastic-leukemia-an-update
#15
Maximilian Becker, Kristie Liu, Carlos A Tirado
Erratum: Figure 1 on the last edition The Journal of the Association of Genetic Technologists. 2017;43(3): 113-127 does not contain the derivative 21. We are replacing this figure with the present one. In the section Secondary genetic aberrations we would like to add that: Deletions of 11q23 are observed in 5-6% of cases (Raynaud et al., 1999; Attarbaschi et al., 2004; Alvarez et al., 2005; Forestier et al., 2007).
2017: Journal of the Association of Genetic Technologists
https://read.qxmd.com/read/29211692/a-molecular-and-cytogenetic-update-on-non-small-cell-lung-carcinoma
#16
Maximilian Becker, Lori Ryan, Alexis Dowiak, Carlos A Tirado
Lung cancer is one of the leading causes of cancer-related death worldwide. Among patients with lung cancer, approximately 85% have non-small cell lung carcinoma (NSCLC). The discovery of oncogenic driver mutations in NSCLC opened new personalized treatment options. Several methods that can identify these biomarkers are used routinely in a clinical setting to stratify patients for targeted therapy. In this review, we summarize the most clinically relevant driver genes, discuss the advantages and limitations of current clinical detection methods, and highlight the benefits of personalized treatment over standard chemotherapy...
2017: Journal of the Association of Genetic Technologists
https://read.qxmd.com/read/28809762/elucidation-of-novel-chromosomal-abnormalities-in-pancreatic-cancer-conventional-and-molecular-cytogenetic-characterization-of-16-pancreatic-cell-lines
#17
David Shabsovich, Carlos A Tirado
Pancreatic carcinoma is a major cause of cancer-related death in the United States, with a five-year survival rate of approximately 5%. Cytogenetic analysis has identified clinically significant chromosomal abnormalities in numerous malignancies, but it is not utilized in the clinical management of pancreatic carcinoma. We performed conventional and molecular cytogenetic analysis of 16 pancreatic carcinoma cell lines using Giemsa banding and DNA-based fluorescence in situ hybridization (FISH). Conventional cytogenetic analysis revealed a diversity of recurrent and clonal numerical and structural abnormalities in all cell lines analyzed, many of which occurred at loci of genes implicated in pancreatic or related cancers...
2017: Journal of the Association of Genetic Technologists
https://read.qxmd.com/read/28809761/the-t-12-21-p13-q22-in-pediatric-b-acute-lymphoblastic-leukemia-an-update
#18
Maximilian Becker, Kristie Liu, Carlos A Tirado
Pediatric B-cell acute lymphoblastic leukemia (B-ALL) is the most common hematological malignancy in children, and the t(12;21)(p13;q22) occurs in approximately 25% of these cases, making it is the most prevalent chromosomal abnormality. The t(12;21) which disrupts hematopoietic differentiation and proliferation, and can be present as a sole abnormality or within the context of a complex karyotype characterized by three or more chromosomal abnormalities. The prognosis of t(12;21) within a complex karyotype is extensively debated...
2017: Journal of the Association of Genetic Technologists
https://read.qxmd.com/read/28809760/the-milestone-of-non-invasive-prenatal-identification-of-chromosomal-abnormalities-in-fetal-trophoblasts-recovered-from-maternal-blood
#19
Jaime Garcia-Heras
Two recent studies demonstrated that array CGH and NGS allow identification of chromosomal abnormalities in fetal trophoblasts circulating in maternal blood. This remarkable breakthrough paves the way for an improved assay that supersedes the performance of non-invasive prenatal testing (NIPT) in cell-free fetal DNA. Furthermore, it is foreseeable to expand the use of this new genomic analysis in trophoblasts to uncover single gene mutations of clinical significance prenatally.
2017: Journal of the Association of Genetic Technologists
https://read.qxmd.com/read/28661409/cytogenetic-characterization-of-myeloid-neoplasms-with-t-2-3-p13-25-q25-29-an-analysis-of-60-cases
#20
Alexis V Dowiak, Carlos A Tirado
Chromosomal translocations involving the short arm of chromosome 2 (p13-25) and the distal part of the long arm of chromosome 3 (q25-29) are rare and still poorly studied to date. These abnormalities are common in myeloid neoplasms and are associated with a poor prognosis. Chromosomal abnormalities within the involved range of bands may contribute to the ectopic expression or formation of fusion genes involving the EVI1 gene, but the exact mechanism by which EVI1 affects leukemogenesis remains unclear. Herein, we report an analysis of 60 patient cases presenting various myeloid malignancies with t(2;3)(p13-25;q25-29) compiled from the Mitelman Database of Chromosome Aberrations and Gene Fusions in Cancer...
2017: Journal of the Association of Genetic Technologists
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