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FusionScan: accurate prediction of fusion genes from RNA-Seq data

Kim P, Jang YE, Lee S

Identification of fusion gene is of prominent importance in cancer research field because of their potential as carcinogenic drivers. RNA sequencing (RNA-Seq) data have been the most useful source for...
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Ewing Sarcoma

Ju HY

Ewing sarcoma is the second most frequently occurring malignant tumor of the bone and soft tissue in adolescents and young adults. Genetically, Ewing sarcoma is characterized by balanced chromosomal translocation...
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PLAG1, SOX10, and Myb Expression in Benign and Malignant Salivary Gland Neoplasms

Lee JH, Kang HJ, Yoo CW, Park WS, Ryu JS, Jung YS, Choi SW, Park JY, Han N

BACKGROUND: Recent findings in molecular pathology suggest that genetic translocation and/or overexpression of oncoproteins is important in salivary gland tumorigenesis and diagnosis. We investigated PLAG1, SOX10, and Myb protein expression...
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Role of fetal ultrasound in prenatally diagnosed de novo balanced translocations

Seong ES, Youn HJ, Park MK, Boo HY, Lee BY, Ryu HM, Han YJ

PURPOSE: This study aimed to investigate fetal ultrasonographic findings in cases of prenatally diagnosed de novo balanced translocations and the role of fetal ultrasound in prenatal genetic counseling. MATERIALS AND METHODS:...
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Peptide Nucleic Acid Clamping and Direct Sequencing in the Detection of Oncogenic Alterations in Lung Cancer: Systematic Review and Meta-Analysis

Song JU, Lee J

PURPOSE: Molecular testing in non-small cell lung cancer (NSCLC) aids in identifying oncogenic alterations. The aim of this study was to compare the rates of detection of oncogenic alterations and...
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Clinical and Cytogenetic Profiles of Rhabdomyosarcoma with Bone Marrow Involvement in Korean Children: A 15-Year Single-Institution Experience

Lee DH, Park CJ, Jang S, Cho YU, Seo JJ, Im HJ, Koh KN, Cho KJ, Song JS, Seo EJ

BACKGROUND: Rhabdomyosarcoma (RMS) is the most common soft tissue sarcoma in children. Alveolar RMS (ARMS) is characterized by FOXO1-related chromosomal translocations that result in a poorer clinical outcome compared with...
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Genomic Profiling of Chronic Myelogenous Leukemia: Basic and Clinical Approach

Keramatinia A, Ahadi A, Akbari ME, Mohseny M, Jarahi AM, Mehrvar N, Mansouri N, Tabatabaei SAM, Movafagh A

Chronic myeloid leukemia (CML) is a hematological stem cell cancer driven by BCR-ABL1 fusion protein. We review the previous and recent evidence on the significance of CML in diagnostic and...
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Ankylosing spondylitis associated with balanced reciprocal X-1 translocation

Kim YH, Lee JO

A number of research papers have reported more frequent occurrence of rheumatic/autoimmune disease among patients with hypogonadism or a chromosomal anomaly with potential X-chromosome defects. A 30-year-old female patient came...
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Xp11.2 translocation renal cell carcinoma in the autosomal dominant polycystic kidney disease patient with preserved renal function

Huh H, Jo HA, Yi Y, Kim SH, Moon KC, Ahn C, Park HC

No abstract available.
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A Case of Chronic Myeloid Leukemia With Rare Variant ETV6/ABL1 Rearrangement

Choi SI, Jang MA, Jeong WJ, Jeon BR, Lee YW, Shin HB, Hong DS, Lee YK

No abstract available.
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MLL-SEPT5 Fusion Transcript in Two de novo Acute Myeloid Leukemia Patients With t(11;22)(q23;q11)

Wang N, Wu X, Sheng G, Ma L, Wen L, Yao H, Chen S

No abstract available.
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Acute Myeloid Leukemia With MLL Rearrangement and CD4+/CD56+ Expression can be Misdiagnosed as Blastic Plasmacytoid Dendritic Cell Neoplasm: Two Case Reports

Lee JM, Kim IS, Lee JN, Park SH, Kim HH, Chang CL, Lee EY, Kim HR, Oh SH, Song SA

No abstract available.
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Frequency and Clinical Characteristics of Intrachromosomal Amplification of Chromosome 21 in Korean Childhood B-lineage Acute Lymphoblastic Leukemia

Kim J, Lyu CJ, Shin S, Lee ST, Choi JR

BACKGROUND: Intrachromosomal amplification of chromosome 21 (iAMP21) is known to be associated with poor prognosis in B-cell ALL (B-ALL). To determine the frequency and clinical characteristics of iAMP21 in Korean...
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t(12;17)(p13;q12)/TAF15-ZNF384 Rearrangement in Acute Lymphoblastic Leukemia

Kim J, Kim HS, Shin S, Lee ST, Choi JR

No abstract available.
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First Case of Diffuse Large B-Cell Lymphoma Subtype of Monomorphic Post-Transplant Lymphoproliferative Disorder With 3q27 Translocation

Kim H, Kim IS, Lee EY, Shin DH, Cho SH

No abstract available.
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A Novel KIT INDEL Mutation in Acute Myeloid Leukemia With t(8;21)(q22;q22); RUNX1-RUNX1T1

Lee JH, Park C, Kim SH, Shin MG

No abstract available.
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B-cell Acute Lymphoblastic Leukemia With t(9;22)(q34;q11) Translocation and Clonal Divergence Through ider(22) Chromosome and t(13;17)(q14;q25) Translocation

Meza-Espinoza JP, Romo Martinez EJ, Aguilar Lopez L, Picos Cardenas VJ, Magana Torres MT, Gonzalez Garcia JR

No abstract available.
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Systematic Classification of Mixed-Lineage Leukemia Fusion Partners Predicts Additional Cancer Pathways

Marschalek R

Chromosomal translocations of the human mixed-lineage leukemia (MLL) gene have been analyzed for more than 20 yr at the molecular level. So far, we have collected about 80 direct MLL...
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A t(8;9)(p22;p24)/PCM1-JAK2 Translocation in a Patient With Myeloproliferative Neoplasm and Myeloid Sarcoma: First Report in Korea

Song I, Lee DH, Lee JH, Jang S, Huh JR, Seo EJ

No abstract available.
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SEC31A-ALK Fusion Gene in Lung Adenocarcinoma

Kim RN, Choi YL, Lee MS, Lira ME, Mao M, Mann D, Stahl J, Licon A, Choi SJ, Vrancken M, Han J, Wlodarska , Kim J

Anaplastic lymphoma kinase (ALK) fusion is a common mechanism underlying pathogenesis of non-small cell lung carcinoma (NSCLC) where these rearrangements represent important diagnostic and therapeutic targets. In this study, we...
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