109 results match your criteria Journal of the Association of Genetic Technologists[Journal]


Testicular Germ Cell Tumors: A Cytogenomic Update.

J Assoc Genet Technol 2018 ;44(4):128-133

The International Circle of Genetic Studies, Los Angeles, CA.

Objectives: 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). Read More

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January 2018
1 Read

Tissue Specificity in Trisomy 22 Mosaicism: A Tale of Caution for Interpretation of Chromosomal Microarray Results.

J Assoc Genet Technol 2018 ;44(4):137-140

Department of Pathology and Laboratory Medicine, University of Vermont Medical Center, Burlington, VT.

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. Read More

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January 2018
9 Reads

Unexplained cytopenias in an adolescent? You GATA think about it.

J Assoc Genet Technol 2018 ;44(4):135-136

Department of Pathology and Laboratory Medicine, University of Vermont Medical Center, Burlington, VT.

Objectives: 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. Read More

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January 2018
2 Reads

Two Double-hit Lymphomas Cases: A Molecular Cytogenetic Approach.

J Assoc Genet Technol 2018 ;44(4):141-145

Allina Health, Minneapolis, MN.

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. Read More

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January 2018
13 Reads

The Role of miR-15a and miR-16-1 in the Pathogenesis of Chronic Lymphocytic Leukemia, and the Importance of microRNAs in Targeted Therapies.

J Assoc Genet Technol 2018 ;44(3):84-87

The International Circle of Genetic Studies, Los Angeles, CA.

Objectives: 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. Read More

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January 2018
10 Reads

Mistaken identity: A Case for Karyotype Analysis Work-up of Soft Tissue Tumors.

J Assoc Genet Technol 2018 ;44(3):89-91

Department of Pathology and Laboratory Medicine, University of Vermont Medical Center, Burlington, VT.

Objectives: 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. Read More

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January 2018

A t(3;8)(q26.2;q24) involving the EVI1 (MECOM) Gene.

J Assoc Genet Technol 2018 ;44(3):92-99

The International Circle of Genetic Studies, Los Angeles, CA.

Objectives: 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. Read More

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January 2018
13 Reads

A t(18;22)(q21;q11) involving IGL/BCL2, A Rare Event in Chronic Lymphocytic Leukemia.

J Assoc Genet Technol 2018 ;44(2):49-53

The International Circle of Genetic Studies, Los Angeles, CA.

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]. Read More

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January 2018
5 Reads

"Lipoblastoma" has a nice ring to it.

J Assoc Genet Technol 2018 ;44(2):45-48

Department of Pathology and Laboratory Medicine, University of Vermont Medical Center, Burlington.

Objectives: 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. Read More

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January 2018
2 Reads

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.

J Assoc Genet Technol 2018 ;44(1):9-16

The International Circle of Genetic Studies, Chapter U.S.A.

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. Read More

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January 2018
4 Reads

Renal Cell Carcinoma with monosomy 8: A Case Series and Review of the Literature.

J Assoc Genet Technol 2018 ;44(1):5-9

Department of Pathology and Laboratory Medicine, University of Vermont Medical Center, Burlington.

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. Read More

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January 2018
4 Reads

The t(12;21)(p13;q22) in Pediatric B-Acute Lymphoblastic Leukemia: An Update.

J Assoc Genet Technol 2017 ;43(4):198

Allina Health, Minneapolis, MN 55407, HPS, Minneapolis, MN 55407, the University of Minnesota, School of Medicine. Department of Laboratory Medicine and Pathology, Minneapolis, MN 55407, and the International Circle of Genetics Studies, Los Angeles, CA 90024.

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. Read More

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January 2017
5 Reads

A Molecular and Cytogenetic Update on Non-Small Cell Lung Carcinoma.

J Assoc Genet Technol 2017 ;43(4):199-211

The International Circle of Genetic Studies, Los Angeles, CA; Allina Health, Inc., Minneapolis, MN; Hospital Pathology Associates, Minneapolis, MN, and the University of Minnesota School of Medicine, Department of Laboratory Medicine and Pathology. Minneapolis, MN.

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. Read More

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January 2017
5 Reads

Elucidation of Novel Chromosomal Abnormalities in Pancreatic Cancer: Conventional and Molecular Cytogenetic Characterization of 16 Pancreatic Cell Lines.

J Assoc Genet Technol 2017 ;43(3):113-127

The International Circle of Genetic Studies, Los Angeles, CA and Allina Health, Minneapolis, MN, HPS, Minneapolis, MN, and The University of Minnesota, School of Medicine. Department of Laboratory Medicine and Pathology, Minneapolis, MN.

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). Read More

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January 2017
14 Reads

The t(12;21)(p13;q22) in Pediatric B-Acute Lymphoblastic Leukemia: An Update.

J Assoc Genet Technol 2017 ;43(3):99-109

The International Circle of Genetic Studies, Los Angeles, CA and Allina Health, Minneapolis, MN, HPS, Minneapolis, MN, and The University of Minnesota, School of Medicine. Department of Laboratory Medicine and Pathology, Minneapolis, MN.

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. Read More

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January 2017
4 Reads

The Milestone of Non-invasive Prenatal Identification of Chromosomal Abnormalities in Fetal Trophoblasts Recovered from Maternal Blood.

J Assoc Genet Technol 2017 ;43(3):129-134

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. Read More

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January 2017
6 Reads

Cytogenetic Characterization of Myeloid Neoplasms with t(2;3)(p13-25;q25-29): An Analysis of 60 Cases.

J Assoc Genet Technol 2017 ;43(2):64-69

The International Circle of Genetic Studies, Los Angeles, CA 90024 and Allina Health, Minneapolis, MN 55401.

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. Read More

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January 2017
7 Reads

A Note from the Editor: Duchenne Muscular Dystrophy, Genetics, the FDA and Drug Pricing.

Authors:
Mark Terry

J Assoc Genet Technol 2017 ;43(2):53-55

Editor, JAGT.

DMD is a muscle-wasting disease. It is caused by mutations in the dystrophin gene which is found on the X chromosome. It has an X-linked recessive inheritance pattern and is passed on by the mother (carrier). Read More

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January 2017
2 Reads

Mosaic Trisomy 9p in a Patient with Mild Dysmorphic Features and Normal Intelligence.

J Assoc Genet Technol 2017 ;43(2):56-58

Department of Pathology, Medical College of Wisconsin, Milwaukee, Wisconsin.

To the Editor: Partial and whole duplications of the short arm of chromosome 9 have been commonly reported in the literature with characteristic phenotypic features and intellectual disabilities. The clinical features of 9p duplications are broad and can include growth retardation, developmental delay, intellectual disability, microbrachycephaly, deep set eyes, hypertelorism, downslanting palpebral fissures, prominent nasal root, bulbous nasal tip, low-set ears, short fingers and toes with hypoplastic nails, and delayed bone age (Bonaglia et al., 2002; Zou et al. Read More

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January 2017
30 Reads

Novel Cytogenetic Findings in a Case of Mixed Phenotype Acute Leukemia within the Context of a Complex Karyotype.

J Assoc Genet Technol 2017 ;43(1):20-22

Laboratory of Cytogenetics, Allina Health, Minneapolis, MN.

Background: Mixed phenotype acute leukemia (MPAL) is a rare hematological malignancy characterized by combinatorial aberrations involving cells of the myeloid, T-, and/or B- lineages, most often diagnosed by means of immunophenotyping in order to assess lineage-specific markers, which can still yield inconclusive diagnoses. MPAL with a complex karyotype (three or more chromosomal abnormalities) is a cytogenetic subtype of MPAL associated with a poor prognosis, but limited data is available about the cytogenetic abnormalities present in this context.

Findings: Herein, we present the case of a 67-year-old female whose bone marrow biopsy revealed an extensive blast population showing dual morphologic differentiation, including lymphoblasts and larger myeloblasts with monocytic differentiation. Read More

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January 2017
5 Reads

Report of a Triploid Fetus Identified in a Pregnancy with Oligohydramnios.

J Assoc Genet Technol 2017 ;43(1):6-8

Kowsar Human Genetics Research Center, Tehran, Iran.

This report describes a pregnancy with a triploid fetus identified from a scan for anomalies at 18 weeks and confirmed by amniocentesis. A 29-year-old, primigravida woman was referred to our clinic for genetic counseling at 18 weeks of gestation because of a mild oligohydramnios due to amniotic fluid index (AFI) less than the fifth percentile in her 18th week. The woman underwent amniocentesis, which revealed a karyotype of 69,XXX. Read More

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January 2017
32 Reads

MECOM (EVI1) Rearrangements: A Review and Case Report of Two MDS Patients with Complex 3q Inversion/Deletions.

J Assoc Genet Technol 2017 ;43(1):9-14

Knight Diagnostics Laboratories, Oregon Health and Science University, Portland, Oregon.

Acute myelogeneous leukemia (AML) with inv(3)/t(3;3)(q13q25) is associated with aberrant expression of the stem-cell regulator MECOM (aka EVI1). Two bone marrow samples received in the OHSU Knight Diagnostic Laboratories (KDL) Cytogenetics Laboratory for chromosomes and FISH for a question of progression of myelodysplastic syndrome (MDS) to AML showed complex abnormalities including a deletion of chromosome 3q, one with del(3)(q13q25) and the other with del(3)(q22q25). In light of the prognostic importance of the activation of the MECOM oncogene and the concurrent inactivation of the GATA2 tumor suppressor that occurs with the classic inversion of chromosome 3q, fluorescence in situ hybridization (FISH) was performed using two different probe designs to better define the 3q deletions in the two cases. Read More

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January 2017
15 Reads

Lost in Interpretation: Evidence of Sequence Variant Database Errors.

Authors:
Adam Coovadia

J Assoc Genet Technol 2017 ;43(1):23-28

Laboratory Operations Director, Genomic Scientist, EvolveGene, St. Petersburg, FL.

Variant databases serve as a resource for clinical molecular genetics laboratories. There is evidence of widespread interpretive and syntactic errors within the entries of both small and large-scale variant databases used for germline clinical molecular genetic interpretation reports. The over-dependence on variant databases for variant annotation, classification and reporting may be a potential source of error to clinical molecular genetics laboratories. Read More

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January 2017
10 Reads

A New Rhesus Macaque Karyotype Based on Human-rhesus Synteny.

J Assoc Genet Technol 2016 ;42(4):178-179

Department of Molecular and Medical Genetics, Oregon Health and Science University, Portland, OR 97239 and the Knight Diagnostic Laboratories, Cytogenetics Laboratory, Oregon Health and Science University, Portland, OR 97239.

Rhesus macaque (Macaca mulatta), because of their similarity to humans, are often used to study complex neurobiology and anatomy, cardiovascular disease, and in vaccine development. While the rhesus genome is studied on its own by primatologists, the grand majority of rhesus macaque research is done with the intention of extrapolating the findings to human diseases and traits. As such, it makes sense that the rhesus genome and karyotype be arranged based on homology to human chromosomes in an effort to ease the comparisons between the two, and aide in interpreting data generated using rhesus macaque model systems. Read More

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January 2016
14 Reads

Ring Chromosome 7: A Rare Structural Abnormality in Acute Myeloid Leukemia (AML).

J Assoc Genet Technol 2016 ;42(4):181-186

Department of Pathology and Laboratory Medicine, UCLA, Los Angeles, CA 90024.

Ring chromosomes, often leading to partial deletions, are found in about 2% of cases of acute myeloid leukemia (AML) and are typically associated with a poor prognosis. Herein, we present the case of a 62-year-old female who showed markedly hypercellular marrow with sheets of myeloblasts, monoblasts, and promonocytes, confirmed by flow cytometry and cases of AML with r(7) have been reported. Analysis of these cases demonstrated that r(7) was a sole abnormality in 20%, a primary abnormality in 14%, and in the context of a complex karyotype in 66%. Read More

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January 2016
7 Reads

JAK2 in the Diagnosis and Treatment of Lymphoid Malignancies: A Review of the Literature.

J Assoc Genet Technol 2016 ;42(3):98-103

Department of Pathology and Laboratory Medicine, UCLA, Los Angeles, CA 90024.

In 2016, there will be an estimated 6,590 new cases of acute lymphocytic leukemia and 18,960 new cases of chronic lymphocytic leukemia in the United States. These and other lymphoid malignancies have a key player in common, JAK2, an enzyme from the Janus kinase (JAK) family. Deviations from the normal functioning of JAK2, particularly in the JAK-signal transducer and activator of transcription (STAT) pathway, can disrupt homeostasis and drive the accumulation of intermediate progenitors, contributing to the development of myeloid and lymphoid malignancies. Read More

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September 2016
3 Reads

Telomerase in Acute Myeloid Leukemia: A Molecular Update on Diagnosis, Prognosis, and Treatment.

J Assoc Genet Technol 2016 ;42(3):105-10

Department of Pathology and Laboratory Medicine, UCLA, Los Angeles, CA 90024.

It is expected that 10,460 patients will die from acute myeloid leukemia (AML) in the United States in 2016. Despite progress in clinical management, AML patients still have a 25.9% survival rate in the U. Read More

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September 2016
2 Reads

An Adult Male Presenting with Concurrent Plasma Cell Myeloma Involving a CCND1-IGH Translocation and Chronic Myelogenous Leukemia with a Variant (9;22) Translocation.

J Assoc Genet Technol 2016 ;42(2):60-3

Department of Pathology and Laboratory Medicine, UCLA, Los Angeles, CA 90024.

The t(11;14)(q13;q32) involving IGH and CCND1 a nd t(9;22) (q34;q11.2) involving BCR and ABL1 are common abnormalities in plasma cell myeloma (PCM) and chronic myelogenous leukemia (CML), respectively. However, the concurrence of the two malignancies is extremely rare. Read More

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September 2016
27 Reads

CML in Chronic Phase with Novel Secondary Cytogenetic Abnormalities: A Case Report.

J Assoc Genet Technol 2016 ;42(2):57-9

The Gujarat Cancer and Research Institute, Asarwa, Ahmedabad, India.

The clonal evolution in t(9;22)-positive Chronic Myelocytic Leukemia (CML) patients is well established. Four major changes occur in more than 70% of patients: +8, i(17q), +19, and an extra Philadelphia chromosome. Here, we present a case with CML-Chronic phase (CML-CP) and novel t(9;13)(q34;q12~13) in addition to t(9;22)(q34;q11. Read More

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September 2016
9 Reads

A t(17;19)(q22;p13.3) Involving TCF3, a t(1;9)(p13;p13), and a 5' IGH Deletion in a Case of Adult B-cell Acute Lymphoblastic Leukemia.

J Assoc Genet Technol 2016 ;42(1):6-14

Pathology and Laboratory Medicine, UCLA Los Angeles, CA 90024.

TCF3 (19p13.3) abnormalities are relatively common in B-cell acute lymphoblastic leukemia (B-ALL). The t(1;19)(q23;p13) involving PBX1 is the most common of these rearrangements. Read More

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May 2016
2 Reads

The 2015 Nobel Prize in Chemistry The Discovery of Essential Mechanisms that Repair DNA Damage.

J Assoc Genet Technol 2016 ;42(1):37-41

Biochemistry and Biophysics, University of North Carolina School of Medicine, Chapel Hill.

The Royal Swedish Academy awarded the Nobel Prize in Chemistry for 2015 to Tomas Lindahl, Paul Modrich and Aziz Sancar for their discoveries in fundamental mechanisms of DNA repair. This pioneering research described three different essential pathways that correct DNA damage, safeguard the integrity of the genetic code to ensure its accurate replication through generations, and allow proper cell division. Working independently of each other, Tomas Lindahl, Paul Modrich and Aziz Sancar delineated the mechanisms of base excision repair, mismatch repair and nucleotide excision repair, respectively. Read More

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May 2016
16 Reads

A t(16;21)(p11;q22) in Acute Myeloid Leukemia (AML) Resulting in Fusion of the FUS/TLS and ERG Genes: A Review of the Literature.

J Assoc Genet Technol 2016 ;42(1):24-33

Pathology and Laboratory Medicine, UCLA Los Angeles, CA 90024.

The t(16;21)(p11;q22) is a rare chromosomal abnormality that appears in approximately 1% of acute myeloid leukemia (AML) cases. Previously, between 50 and 60 cases have been reported. In this review, we will discuss the literature regarding t(16;21) as well as cases published. Read More

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May 2016
14 Reads

Fetal Tissue Procurement for Karyotype Analysis: Clinician or Pathologist - Which is Better?

J Assoc Genet Technol 2016 ;42(1):15-8

Department of Pathology and Laboratory Medicine, University of Vermont Medical Center.

Unlabelled: Chromosomal abnormalities are detected in up to 13% of stillbirths and over 20% of those with developmental anomalies. These estimates may be low since up to 50% of samples fail to achieve a result due to microbial overgrowth or nonviability. Tissue for cytogenetics can be procured at bedside by the clinician or by the pathologist in the laboratory. Read More

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May 2016
5 Reads

Cytogenetics and Molecular Genetics of Prostate Cancer: A Comprehensive Update.

J Assoc Genet Technol 2015 ;41(3):100-11

Prostate cancer (PCa) is the one of the most commonly diagnosed cancers in males living in the United States, and approximately 222,800 men will contract PCa in 2015. Recent molecular studies have found novel genetic associations with PCa and genetic changes of potential clinical relevance in cancer detection and treatment. Single nucleotide polymorphism (SNP) arrays have revealed unique SNPs connected with patient ethnicity and other medical conditions, as well as uncovered new information on genes such as KLK3, which produces prostate specific antigen (PSA) and promotes PCa metastasis. Read More

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November 2015
3 Reads

Streamlining the OncoScan® Array Procedure for Use in a Clinical Laboratory.

J Assoc Genet Technol 2015 ;41(2):61-5

ARUP Institute for Clinical and Experimental Pathology®, Salt Lake City, UT.

Microarray analysis has found tremendous utility in the clinical laboratory testing for detection of copy number changes (CNCs) and loss of heterozygosity (LOH). Recently the OncoScan® array was introduced as a tool for identification of CNCs and LOH in formalin-fixed paraffin-embedded oncology samples. The objective of this study was to identify steps in the OncoScan procedure that could be modified to make the process more efficient and technician-friendly in the clinical laboratory setting. Read More

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July 2015
55 Reads

Detection of segmental chromosome copy number gains by improved fluorescence in situ hybridization techniques.

J Assoc Genet Technol 2015 ;41(1):5-11

ANU Medical School, Australian National University, Canberra ACT 0200, Australia ACT Pathology, The Canberra Hospital, Canberra ACT, Australia.

Fluorescence in situ hybridization (FISH) techniques are used for the targeted investigation of microduplication, microdeletion and structural rearrangements. More recently FISH techniques using probes specific to the region of interest have been applied to confirm genomic copy number variation (CNV). However, there are limitations in the assessment of FISH signal patterns. Read More

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June 2015
7 Reads

A Cryptic t(11;14) Translocation in Mantle Cell Lymphoma Highlights the Importance of FISH.

J Assoc Genet Technol 2015 ;41(1):13-6

Department of Pathology and Laboratory Medicine, David Geffen School of Medicine, University of California Los Angeles, Los Angeles, CA.

Mantle cell lymphoma (MCL) is a mature B-cell neoplasm composed of monomorphic small to medium-sized atypical lymphocytes arising from naïve mantle zone B-cells, with a generally aggressive and incurable clinical course. The t(11;14)(q13;q32) between IGH@ and CCND1 is present in almost all cases of MCL. Secondary cytogenetic abnormalities are common, and have been associated in some cases with clinical progression. Read More

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June 2015
13 Reads

C-MYC Involvement in Chronic Lymphocytic Leukemia (CLL): A Molecular and Cytogenetic Update.

J Assoc Genet Technol 2015 ;41(4):176-183

Department of Patholgy and Laboratory Medicine - David Deffen School of Medicine at UCLA.

Chronic lymphocytic leukemia (CLL) is a disorder entailing the slow proliferation of B-cell lymphocytes in the bone marrow and blood. In 2015, it is estimated that 14,620 patients will be diagnosed with CLL, and approximately 4,650 patients will die due to disease progression. CLL typically presents in patients about 71 years of age. Read More

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January 2015
2 Reads

Multiple Copies of BCR/ABL Fusion Signals and t(3;21) in a Chronic Myeloid Leukemia: Patient with Blast Crisis - A Rare Event with Imatinib Mesylate (Gleevec)-Resistance in an Indian Patient.

J Assoc Genet Technol 2014 ;40(1):4-9

Cell Biology Division, The Gujarat Cancer and Research Institute, Asarwa, Ahmedabad-380016, India.

Chronic myeloid leukaemia (CML) is characterized by the expression of BCR/ABL fusion gene, a constitutively activated tyrosine kinase that commonly results from the formation of the Philadelphia (Ph) chromosome after a t(9;22)(q34;q11) or variant rearrangement. The duplication of Ph chromosome is a recurring abnormality acquired during disease progression, whereas intrachromosomal amplification of BCR/ABL is a rare phenomenon and has been associated with imatinib mesylate (IM) therapy resistance. In the present study, we used G-banding to identify the presence of identical isochromosomes of the Ph chromosome and t(3;21)(q26;q22) resulted from clonal evolution in IM-resistant patient. Read More

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June 2015
11 Reads

Hyperdiploidy in CLL/SLL: A Rare Cytogenetic Event Associated with Poor Prognosis.

J Assoc Genet Technol 2014 ;40(1):22-4

UCLA Department of Pathology and Laboratory Medicine.

Hyperdiploidy has been described in a variety of malignancies including acute lymphoblastic leukemia and plasma cell myeloma, in which the abnormality is associated with a very good prognosis. Herein, we describe a 61-year-old female that was diagnosed with atypical chronic lymphocytic leukemia (CLL). Initial chromosome analysis of a lymph node specimen showed an abnormal karyotype described as 46-48,XX,add(3)(q12),+16,+mar[cp3]/46,XX[1]. Read More

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June 2015
5 Reads

Bone Marrow Cultures Stimulated with IL-2/CpG Oligonucleotide Benefits Chromosomal Aberration Detection of CLL Patients when Compared with Standard Culture.

J Assoc Genet Technol 2014 ;40(4):219-22

The University of Texas M.D. Anderson Cancer Center, School of Health Professions. Houston, TX.

Background: Chronic lymphocytic leukemia (CLL) is the most common leukemia in the United States. Metaphase-based cytogenetic tests, such as G-Band karyotyping, are among the most effective to detect CLL and provide significant prognostic information. However, the use of metaphase cytogenetics is currently problematic due to the low mitotic index of most CLL cells in vitro cultures. Read More

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June 2015
8 Reads

Cytogenetics of melanoma: a review.

J Assoc Genet Technol 2014 ;40(4):209-18

Department of Pathology and Laboratory Medicine, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, CA.

Malignant melanoma is an aggressive cutaneous neoplasm whose incidence has continued to increase worldwide. Currently, histopathologic examination of specimens is the gold standard for the diagnosis and categorization of melanoma. Cytogenetic analysis represents a powerful, and currently underused, adjunct to traditional histologic examination in distinguishing nevi and melanomas. Read More

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October 2015
7 Reads

Seizure Disorder in a Patient with a 5.09 Mb 7q11.23-q21.11 Microdeletion Including the MAGI2 Gene.

J Assoc Genet Technol 2014 ;40(1):16-21

Pittsburgh Cytogenetics Laboratory, Center for Medical Genetics and Genomics, Magee-Womens Hospital of UPMC, Pittsburgh, PA, and Department of Human Genetics, Graduate School of Public Health, University of Pittsburgh, Pittsburgh, PA, and Department of Pathology, University of Pittsburgh School of Medicine, Pittsburgh, PA.

Infantile spasms (IS) are a severe form of epilepsy characterized by hysparrhythmia on EEG, spasms, and intellectual disability. Typically occurring before one year of age, 40-60% of patients diagnosed with IS eventually develop other seizure disorders later in life. The etiology of IS is broad, and only recently have IS-associated genes been identified. Read More

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June 2015
11 Reads

Genes, chromosomes, and disorders of sex development: an update.

J Assoc Genet Technol 2014 ;40(3):124-30

Department of Pathology and Laboratory Medicine, University of California, Los Angeles (UCLA), Los Angeles, CA.

Disorders of sex development (DSD) comprise 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. Read More

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June 2015
8 Reads

Acute Myeloid Leukemia with a Masked Type of Three-Way t(8;11;21) Revealed by Fluorescence In Situ Hybridizations Using AML1-ETO Probe.

J Assoc Genet Technol 2014 ;40(1):11-5

The Gujurat Cancer and Research Institute Asarwa, Ahmedabad, India.

The translocation (8;21)(q22;q22) is associated with acute myeloblastic leukemia (AML) with M2 subtype. The accurate detection of this chromosomal rearrangement is vital due to its association with a favorable prognosis. Variants of t(8;21)(q22;q22) involving chromosomes 8, 21 and other chromosomes account for approximately 3% of all t(8;21)(q22;q22) in AML. Read More

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June 2015
7 Reads

c-MYC Amplification in Acute Myelogenous Leukemia Evolving from Double Minutes (dmins) to Homogeneously Staining Region (hsr).

J Assoc Genet Technol 2014 ;40(2):64-7

Department of Pathology, 1 Medical Center Drive, Morgantown, West Virginia University, Morgantown, WV.

A bone marrow biopsy of a 68-year-old woman revealed 59% blasts and immature monocytes, consistent with acute myeloid leukemia (AML) with monocytic features. Occasional hypolobated megakaryocytes and decreased iron stores were also present. A peripheral blood sample showed 7% blasts in addition to monocytosis, macrocytic anemia and thrombocytopenia. Read More

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June 2015
9 Reads

Epigenesis in acute myeloid leukemia: an update.

J Assoc Genet Technol 2013 ;39(2):61-5

Department of Pathology and Laboratory Medicine - UCLA.

Acute myeloid leukemia (AML) is a hematological malignancy characterized by uncontrolled proliferation of clonal neoplastic hematopoietic precursor cells leading to the disruption of normal hematopoiesis and bone marrow failure. While about 45% of AML cases show a normal karyotype with mutations detectable only at the molecular level, 55% display chromosomal rearrangements including deletions, insertions, segmental and complete monosomy/trisomy, and gene fusions created by translocations. However, AML is not induced by cytogenetic abnormalities and gene mutations alone: the current body of literature implicates abnormal epigenetics-specifically, abnormal levels of DNA methylation, chemical modification of histones, and non-coding RNA expression-in the flawed regulation of the fundamental genes of hematopoiesis. Read More

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June 2015
3 Reads

A Chronic Myelogenous Leukemia (CML) Case with a Cryptic Insertion of the ABL1 Gene of Chromosome 9 into 22 Resulting in a Fusion Signal on the Derivative 22: 46,XY.ish ins(22;9)(q11.2;q34q34)BCR+,ABL1.

J Assoc Genet Technol 2013 ;39(1):21-2

Department of Pathology and Laboratory Medicine, David Geffen UCLA School of Medicine. Los Angeles, CA.

Chronic myelogenous leukemia (CML) is characterized by the specific cytogenetic translocation t(9;22)(q34;q11.2), also called the Philadelphia (Ph) chromosome. We present a case of a cryptic BCR/ABL1 fusion, which was not originally detected by standard karyotyping. Read More

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June 2015
11 Reads

Concurrent t(4;11) and t(1:19) in a Pediatric Patient with B-Lymphoblastic Leukemia/Lymphoma (B-ALL): A Case Report and Review of the Literature.

J Assoc Genet Technol 2013 ;39(4):195-7

Department of Pathology, Hematopathology Section, University of New Mexico Health Sciences Center, Albuquerque, NM.

We herein present the case of a pediatric patient with B-lymphoblastic leukemia (B-ALL) with MLL gene rearrangement associated with the t(4;11)(q21;q23). Complete remission was achieved with standard B-ALL-directed chemotherapy and whole brain radiation. The patient subsequently relapsed and cytogenetic assessment revealed an additional acquired t(1;19)(q23;p13) associated with the TCF3-PBX1 fusion. Read More

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June 2015
4 Reads

MLL Rearrangment and EVI1 Deletion in BCR/ABL1 Positive Chronic Myeloid Leukemia.

J Assoc Genet Technol 2013 ;39(4):190-4

Cancer Cytogenetics, Department of Medicine, Section of Hematology/Oncology, University of Chicago, Chicago, IL.

We present unusual cytogenetic findings in a 65-year-old female with blast phase (BC) of Philadelphia chromosome positive chronic myeloid leukemia (CML). Chromosome analysis revealed two related abnormal clones, one characterized by a t(9;22)(q34;q11.2), and the other showing a t(11;19)(q23;p13. Read More

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June 2015
14 Reads