Laboratory Medicine Online

Case Report | 2022-04-01

De novo HCN1 Mutation Identified by Next-Generation Sequencing in a Patient with Early Infantile Epileptic Encephalopathy: Case Report

Hanmil Jang, M.D.¹, Dongju Won, M.D.

¹, Saeam Shin, M.D.¹, Seung-Tae Lee, M.D.¹, Jong Rak Choi, M.D.¹, Joon Soo Lee, M.D.

²

https://doi.org/10.47429/lmo.2022.12.2.134

Lab Med Online 2022; 12(2): 134-137

Keywords:

HCN1, Neurodevelopmental disease, Early infantile epileptic encephalopathy, de novo mutation, Next-generation sequencing

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Case Report | 2022-01-01

Secondary Germline CDKN2A Mutation Identified using Liquid Biopsy in a Patient with Esophageal Cancer

Hanmil Jang, M.D.¹, Dongju Won, M.D.¹, Saeam Shin, M.D.

¹, Seong Yong Park, M.D.

², Dae Joon Kim, M.D.², Seung-Tae Lee, M.D.¹, Jong Rak Choi, M.D.¹

https://doi.org/10.47429/lmo.2022.12.1.63

Lab Med Online 2022; 12(1): 63-67

Keywords:

Circulating tumor DNA, Germline mutation, CDKN2A, Liquid biopsy, Hereditary cancer syndromes

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Case Report | 2022-01-01

JAK2 V617F-Positive Acute Myeloid Leukemia: Clinicopathological Features of Two Cases

Youngeun Lee, M.D.¹, Ji Yun Lee, M.D.², Jeong-Ok Lee, M.D.², Soo-Mee Bang, M.D.², Sang Mee Hwang, M.D.

^1,3

https://doi.org/10.47429/lmo.2022.12.1.53

Lab Med Online 2022; 12(1): 53-57

Keywords:

Acute myeloid leukemia, JAK2 mutation, Next-generation sequencing

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Original Article | 2021-10-01

Evaluation of a Targeted Next-generation Sequencing Assay for BRCA Mutation Screening in Clinical Samples

Man Jin Kim, M.D.¹, Byeong Ju Song, M.T.¹, Si Eun Kim, M.S.², Chang Seon Lee, M.S.², Ji-Eun Im, M.S.², Ensel Oh, Ph.D.², Keunsook Lee, Ph.D.², Sung Im Cho, M.T.¹, Kwang Joong Kim, Ph.D.², Sung Sup Park, M.D.¹, Moon-Woo Seong, M.D.

¹

https://doi.org/10.47429/lmo.2021.11.4.283

Lab Med Online 2021; 11(4): 283-289

Keywords:

BRCA, Mutation, Next-generation sequencing, in vitro diagnosis, Hereditary breast and ovarian cancer (HBOC) syndrome

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Case Report | 2021-04-01

Neurofibromatosis Type I: Case Reports of Two Novel Mutations

Ho Jong Lee, M.D., Ung Jun Kim, M.D., Woo Shin Kim, M.D., Young Jin Ko, M.D., Geon Park, M.D., Sook Jin Jang, M.D., Seong-Ho Kang, M.D.

https://doi.org/10.47429/lmo.2021.11.2.135

Lab Med Online 2021; 11(2): 135-138

Keywords:

Neurofibromatosis type I, NF1 gene, Frameshift mutation

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Case Report | 2018-10-01

Primary Myelofibrosis with MPL S505N Mutation: The First Case Reported in Korea

Ung-Jun Kim, M.D., Ho-Jong Lee, M.D., In-Sun Choi, M.D., Seong-Ho Kang, M.D., Sook-Jin Jang, M.D., Dae-Soo Moon, M.D., Geon Park, M.D.

https://doi.org/10.3343/lmo.2018.8.4.167

Lab Med Online 2018; 8(4): 167-170

Keywords:

Myeloproliferative neoplasm, Primary myelofibrosis, MPL S505N mutation, 13q deletion

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Original Article | 2017-07-01

Frequency and Distinct Characteristics of Acute Myeloid Leukemia Lacking HLA-DR and CD34 Expression: Features Intermediate between Typical Acute Myeloid Leukemia and Acute Promyelocytic Leukemia

Hye-Young Lee, M.D., Young-Uk Cho, M.D., Eunkyoung You, M.D., Seongsoo Jang, M.D., Eul-Ju Seo, M.D. and Chan-Jeoung Park, M.D.

https://doi.org/10.3343/lmo.2017.7.3.103

Lab Med Online 2017; 7(3): 103-110

Keywords:

promyelocytic leukemia, Acute myeloid leukemia, HLA-DR, CD34, Immunophenotype, DIC, NPM1 mutation

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Case Report | 2015-01-01

A Case of GNAS1 Mutation in Pseudohypoparathyroidism Type Ia

Geon Park, M.D., Ji Hee Kim, M.D., Seung Hwa Rhie, M.D., Eun Sun Lee, M.D., and Se Eung Noh, M.D.

https://doi.org/10.3343/lmo.2015.5.1.38

Lab Med Online 2015; 5(1): 38-43

Keywords:

Albright hereditary osteodystrophy, GNAS1 gene, Missense mutation, Pseudohypoparathyroidism

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Original Article | 2014-10-01

Diagnostic Effectiveness of PCR-based Tests Detecting BRAF Mutation for Treating Malignant Melanoma: A Systematic Review

Hae-Won Shin, M.P.H., Ryeo-Jin Ko, M.P.H., Min Lee, M.P.H., Hee-Young Bang, M.S., Kye-Chul Kwon, M.D., Jong-Woo Park, M.D., and Sun-Hoe Koo, M.D.

https://doi.org/10.3343/lmo.2014.4.4.203

Lab Med Online 2014; 4(4): 203-211

Keywords:

BRAF mutation, Melanoma, PCR, Systematic review

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Original Article | 2011-10-01

Analysis of TP53 Gene Mutations in the Korean Patients with Lung Cancer

Sang Bong Jung, MS, Hee Kyung Chang, M.D., Seok Cheol Choi, Ph.D., Kyeong-Cheol Shin, M.D., Kwan-Ho Lee, M.D., and Chang Ho Jeon, M.D.

https://doi.org/10.3343/lmo.2011.1.4.6

Lab Med Online 2011; 1(4): 202-208

Keywords:

TP53 gene mutation, denaturing high performance liquid chromatography, exon, codon

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De novo HCN1 Mutation Identified by Next-Generation Sequencing in a Patient with Early Infantile Epileptic Encephalopathy: Case Report

Secondary Germline CDKN2A Mutation Identified using Liquid Biopsy in a Patient with Esophageal Cancer

JAK2 V617F-Positive Acute Myeloid Leukemia: Clinicopathological Features of Two Cases

Evaluation of a Targeted Next-generation Sequencing Assay for BRCA Mutation Screening in Clinical Samples

Neurofibromatosis Type I: Case Reports of Two Novel Mutations

Primary Myelofibrosis with MPL S505N Mutation: The First Case Reported in Korea

Frequency and Distinct Characteristics of Acute Myeloid Leukemia Lacking HLA-DR and CD34 Expression: Features Intermediate between Typical Acute Myeloid Leukemia and Acute Promyelocytic Leukemia

A Case of GNAS1 Mutation in Pseudohypoparathyroidism Type Ia

Diagnostic Effectiveness of PCR-based Tests Detecting BRAF Mutation for Treating Malignant Melanoma: A Systematic Review

Analysis of TP53 Gene Mutations in the Korean Patients with Lung Cancer

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