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JL1 Antigen Expression on Bone Marrow Lymphoma Cells from Patients With Non-Hodgkin Lymphoma

Kim MS, Park CJ, Cho YU, Jang S, Seo EJ, Park CS, Huh J, Im HJ, Seo JJ, Yoon DH, Suh C

BACKGROUND: JL1, a CD43 epitope and mucin family cell surface glycoprotein, is expressed on leukemic cells. An anti-JL1 antibody combined with a toxic substance can have targeted therapeutic effects against...
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A Case of Pediatric Acute Lymphoblastic Leukemia with Trisomy 5 as a Sole Chromosomal Anomaly: A Prognostic Significance

Cho YH, Jeon IS

We present a case of Korean pediatric patient with pre-B cell type acute lymphoblastic leukemia (ALL) with trisomy 5 as a sole cytogenetic anomaly. Here, we compare and describe the...
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Chromosomal Microarray Analysis as a First-Tier Clinical Diagnostic Test in Patients With Developmental Delay/Intellectual Disability, Autism Spectrum Disorders, and Multiple Congenital Anomalies: A Prospective Multicenter Study in Korea

Jang W, Kim Y, Han E, Park J, Chae H, Kwon A, Choi H, Kim J, Son JO, Lee SJ, Hong BY, Jang DH, Han JY, Lee JH, Kim SY, Lee IG, Sung IK, Moon Y, Kim M, Park JH

BACKGROUND: To validate the clinical application of chromosomal microarray analysis (CMA) as a first-tier clinical diagnostic test and to determine the impact of CMA results on patient clinical management, we...
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Unilateral Multifocal Type 2 Papillary Renal Cell Carcinoma in Adolescence. A Case Report

Yoon S, Choi JH, Lee SW, Jeh SU, Hwa JS, Hyun JS, Chung KH, Park HO, Lee JS, Choi SM

Papillary renal cell carcinomas (RCCs) can be classified into 2 subtypes (types 1 and 2), depending on their characteristic cytogenetics, immunostaining profiles, and gene-expression profiles. Compared with type 1 papillary...
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Intraoperative Frozen Cytology of Central Nervous System Neoplasms: An Ancillary Tool for Frozen Diagnosis

Kang M, Chung DH, Kim NR, Cho HY, Ha SY, Lee S, An J, Seok JY, Yie GT, Yoo CJ, Lee SG, Kim EY, Kim WK, Son S, Sym SJ, Shin DB, Hwang HY, Kim EY, Lee KC

BACKGROUND: Pathologic diagnosis of central nervous system (CNS) neoplasms is made by comparing light microscopic, immunohistochemical, and molecular cytogenetic findings with clinicoradiologic observations. Intraoperative frozen cytology smears can improve the...
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A case of de novo 18p deletion syndrome with panhypopituitarism

Yang A, Kim J, Cho SY, Lee JE, Kim HJ, Jin DK

Deletion on the short arm of chromosome 18 is a rare disorder characterized by intellectual disability, growth retardation, and craniofacial malformations (such as prominent ears, microcephaly, ptosis, and a round...
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Dose Estimation Curves Following In Vitro X-ray Irradiation Using Blood From Four Healthy Korean Individuals

Jang MA, Han EA, Lee JK, Cho KH, Shin HB, Lee YK

Cytogenetic dosimetry is useful for evaluating the absorbed dose of ionizing radiation based on analysis of radiation-induced chromosomal aberrations. We created two types of in vitro dose-response calibration curves for...
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Report on the External Quality Assessment Scheme for Cytogenetics and Molecular Cytogenetics in Korea (2016–2017)

Kim J, Shin S, Kim B, Lee ST, Kim M, Choi JR

In both 2016 and 2017, the cytogenetic and molecular cytogenetic programs conducted three assessments for the Korean Association of External Quality Assessment Service. A total of six cases with chromosomal...
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Altered expression of MALAT1 lncRNA in chronic lymphocytic leukemia patients, correlation with cytogenetic findings

Ahmadi A, Kaviani S, Yaghmaie M, Pashaiefar H, Ahmadvand , Jalili M, Alimoghaddam K, Eslamijouybari M, Ghavamzadeh A

BACKGROUND: Recent studies have devoted much attention to non-protein-coding transcripts in relation to a wide range of malignancies. MALAT1, a long non-coding RNA, has been reported to be associated with...
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Treatment and clinical outcomes of patients relapsing after allogeneic hematopoietic cell transplantation for myelodysplastic syndrome

Choi EJ, Lee JH, Lee JH, Park HS, Ko SH, Seol M, Lee YS, Kang YA, Jeon M, Lee KH

BACKGROUND: Although allogeneic hematopoietic cell transplantation (HCT) is the only curative treatment option for myelodysplastic syndrome (MDS), a substantial number of patients experience relapse. We reviewed the clinical outcomes of...
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Clinicohematological parameters and outcomes in a cohort of chronic lymphocytic leukemia patients with Deletion 17p from Pakistan

Mahmood R, Khan SA, Altaf C, Malik HS, Khadim MT

BACKGROUND: Chronic lymphocytic leukemia (CLL) exhibits profound heterogeneity in its clinical course. Its clinicohematological and cytogenetic features play a significant role in determining the clinical course and in predicting the...
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No benefit of hypomethylating agents compared to supportive care for higher risk myelodysplastic syndrome

Sohn SK, Moon JH, Lee IH, Ahn JS, Kim HJ, Chung JS, Shin HJ, Park SW, Lee WS, Lee SM, Kim H, Lee HS, Kim YS, Cho YY, Bae SH, Lee JH, Kim SH, Song IC, Kwon JH, Lee YJ

BACKGROUND/AIMS: This study evaluated the role of hypomethylating agents (HMA) compared to best supportive care (BSC) for patients with high or very-high (H/VH) risk myelodysplastic syndrome (MDS) according to the...
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Primary Myelofibrosis with MPL S505N Mutation: The First Case Reported in Korea

Kim UJ, Lee HJ, Choi IS, Kang SH, Jang SJ, Moon DS, Park G

MPL mutation is an important molecular marker in myeloproliferative neoplasms (MPN). Although MPL W515 is a hot spot for missense mutations in MPN, MPL S505 mutations have been reported in...
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Philadelphia-positive mixed phenotype acute leukemia presenting with PML-RARα fusion transcript without t(15;17) on cytogenetic studies

Huh SJ, Kim SH, Kim HJ, Han JY, Lim H, Lee JH

No abstract available.
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Multiple Exposures and Coexposures to Occupational Hazards Among Agricultural Workers: A Systematic Review of Observational Studies

Nguyen TH, Bertin M, Bodin J, Fouquet N, Bonvallot , Roquelaure Y

BACKGROUND: Workers may be exposed to various types of occupational hazards at the same time, potentially increasing the risk of adverse health outcomes. The aim of this review was to...
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The incidence of atypical patterns of BCR-ABL1 rearrangement and molecular-cytogenetic response to tyrosine kinase inhibitor therapy in newly diagnosed cases with chronic myeloid leukemia (CML)

Švabek ZT, Josipović M, Horvat I, Zadro R, Davidović-Mrsić S

BACKGROUND: To analyze the frequency of atypical fluorescence in situ hybridization signal patterns and estimate the complete cytogenetic response (CCyR) and major molecular response (MMR) during 12 months of tyrosine...
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Wilms tumor, aniridia, genitourinary anomalies, and mental retardation syndrome with deletion of chromosome 11p14.3p12

Seo GH, Kim YM, Kim GH, Seo EJ, Choi JH, Lee BH, Yoo HW

WAGR (Wilms tumor, aniridia, genitourinary anomalies, and mental retardation) syndrome is a rare contiguous gene deletion syndrome caused by deleting genes including WT1 and PAX6 genes in 11p13 region, which...
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Clinical Utility of a Diagnostic Approach to Detect Genetic Abnormalities in Multiple Myeloma: A Single Institution Experience

Jung HA, Jang MA, Kim K, Kim SH

BACKGROUND: The identification of genetic abnormalities in patients with multiple myeloma (MM) has gained emphasis because genetics-based risk stratification significantly affects overall survival (OS). We investigated genetic abnormalities using conventional...
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Anaplastic Large Cell Lymphoma with Massive Eosinophilia and Complex Karyotype Initially Misdiagnosed as Chronic Eosinophilic Leukemia

So MK, Park S, Cho MS, Mun YC, Huh J

We report a patient with massive eosinophilia and a complex karyotype that was initially misdiagnosed as chronic eosinophilic leukemia (CEL), but later diagnosed as anaplastic large cell lymphoma (ALCL) masked...
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Additional cytogenetic aberrations in chronic myeloid leukemia: a single-center experience in the Middle East

Safaei A, Monabati A, Safavi M, Atashabparvar A, Hosseini M

BACKGROUND: Additional cytogenetic aberrations are associated with disease progression in chronic myeloid leukemia (CML). This study was conducted to determine the type and frequency of these aberrations and their relationship...
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