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Youk, Jeonghwan,Koh, Youngil,Kim, Ji-Won,Kim, Dae-Yoon,Park, Hyunkyung,Jung, Woo June,Ahn, Kwang-Sung,Yun, Hongseok,Park, Inho,Sun, Choong-Hyun,Lee, Seungmook,Yoon, Sung-Soo Korean Society of Hematology; Korean Society of Bl 2016 Blood Research Vol.51 No.1
<P><B>Background</B></P><P>Mast cell leukemia (MCL) is the most aggressive form of systemic mastocytosis disorders. Owing to its rarity, neither pathogenesis nor standard treatment is established for this orphan disease. Hence, we tried to treat a patient with MCL based on the exome and transcriptome sequencing results of the patient's own DNA and RNA.</P><P><B>Methods</B></P><P>First, tumor DNA and RNA were extracted from bone marrow at the time of diagnosis. Germline DNA was extracted from the patient's saliva 45 days after induction chemotherapy and used as a control. Then, we performed whole-exome sequencing (WES) using the DNA and whole transcriptome sequencing (WTS) using the RNA. Single nucleotide variants (SNVs) were called using MuTect and GATK. Samtools, FusionMap, and Gene Set Enrichment Analysis were utilized to analyze WTS results.</P><P><B>Results</B></P><P>WES and WTS results revealed mutation in <I>KIT</I> S476I. Fusion analysis was performed using WTS data, which suggested a possible RARα-B2M fusion. When RNA expression analysis was performed using WTS data, upregulation of PIK3/AKT pathway, downstream of KIT and mTOR, was observed. Based on our WES and WTS results, we first administered all-trans retinoic acid, then dasatinib, and finally, an mTOR inhibitor.</P><P><B>Conclusion</B></P><P>We present a case of orphan disease where we used a targeted approach using WES and WTS data of the patient. Even though our treatment was not successful, use of our approach warrants further validation.</P>
Dissecting single-cell genomes through the clonal organoid technique
Youk Jeonghwan,Kwon Hyun Woo,Kim Ryul,주영석 생화학분자생물학회 2021 Experimental and molecular medicine Vol.53 No.-
The revolution in genome sequencing technologies has enabled the comprehensive detection of genomic variations in human cells, including inherited germline polymorphisms, de novo mutations, and postzygotic mutations. When these technologies are combined with techniques for isolating and expanding single-cell DNA, the landscape of somatic mosaicism in an individual body can be systematically revealed at a single-cell resolution. Here, we summarize three strategies (whole-genome amplification, microdissection of clonal patches in the tissue, and in vitro clonal expansion of single cells) that are currently applied for single-cell mutational analyses. Among these approaches, in vitro clonal expansion, particularly via adult stem cell-derived organoid culture technologies, yields the most sensitive and precise catalog of somatic mutations in single cells. Moreover, because it produces living mutant cells, downstream validation experiments and multiomics profiling are possible. Through the synergistic combination of organoid culture and genome sequencing, researchers can track genome changes at a single-cell resolution, which will lead to new discoveries that were previously impossible.
Hyunkyung Park,Jeonghwan Youk,Seongcheol Cho,Ji Hyun Lee,Yeonjoo Choi,Youngil Koh 순천향대학교 순천향의학연구소 2015 Journal of Soonchunhyang Medical Science Vol.21 No.2
Catastrophic antiphospholipid syndrome (APS) is defined as a rare, life-threatening autoimmune disorder leading to multiorgan failure. Probable APS, with clinical manifestations similar to APS without antiphospholipid antibodies, was suggested to be seronegative catastrophic APS. The triggering factors of catastrophic APS are various, including infection, trauma, malignancy, and surgery. In approximately 40% of patients, catastrophic APS develops from an unknown cause. We report a case of seronegative catastrophic APS due to an unknown origin. A 20-year-old man presented with cough, abdominal pain, skin lesions, tunnel vision, and watery diarrhea without fever. His symptoms and laboratory test suggested disseminated intravascular coagulation. Considering seronegative catastrophic APS, we treated with intravenous steroid and intravenous immunoglobulin, but the effects were limited. After weekly treatment with rituximab, an immune-modulating agent, his laboratory findings including thrombocytopenia and coagulation tests, returned to normal. We conclude that rituximab can be an effective treatment for seronegative catastrophic APS.
( Junghoon Shin ),( Youngil Koh ),( Jeonghwan Youk ),( Miso Kim ),( Byung Soo Kim ),( Chul Won Choi ),( Hwa Jung Sung ),( Yong Park ),( Sung-soo Yoon ),( Inho Kim ) 대한내과학회 2017 The Korean Journal of Internal Medicine Vol.32 No.4
Background/Aims: Although multiple myeloma (MM) is typically a disease of the elderly, a certain subset of extremely young patients exists. It is necessary to establish clinicopathological characteristics for this population. Methods: We reviewed the medical records of MM patients whose age was 40 years or younger at diagnosis. Results: A total of 32 patients were analyzed (male to female ratio 19:13, median age 37 years). According to International Staging System, 29%, 48%, and 16% were in stage I, II, and III, respectively. Light chain myeloma accounted for 30%. Clinically significant anemia, hypercalcemia, azotemia, and hypoalbuminemia were present in 29%, 28%, 13%, and 28%, respectively. Three or more lytic bone lesions were detected in 45% of the patients, whereas 13% had no lytic bone lesions. Regarding treatment, 79% of patients received autologous hematopoietic stem cell transplantation. After a median follow-up duration of 64 months, the 1-, 3-, and 5-year overall survival (OS) rates were 84%, 62%, and 54%, respectively. The median OS was 61 months for the entire cohort. Conclusions: In our study, MM patients aged 40 years or younger at diagnosis showed no superior survival compared to those of the moderately elderly patients based on historical data.
Seongcheol Cho,Jin Won Kim,Jeonghwan Youk,Sang Mee Hwang,Hyo Jin Park,Choon-Taek Lee 순천향대학교 순천향의학연구소 2015 Journal of Soonchunhyang Medical Science Vol.21 No.2
Here we report a case of a 72-year-old male patient recurred in bone marrow alone with pulmonary tumor embolism after an excision of extramammary Paget’s disease of scrotum 3 years ago. The patient received paclitaxel/carboplatin chemotherapy with respiratory support in intensive care unit. Four days after chemotherapy, the oxygen demand decreased and the patient was transferred to general ward. The platelet count recovered after 2 weeks. Finally, he died of hepatic failure from Paget’s disease hepatic involvement confirmed by liver biopsy at 10 months after recurrence. This is a rare case of recurred extramammary Paget’s disease in bone marrow alone with pulmonary tumor embolism, which was properly diagnosed with high suspicion and was successfully treated with immediate chemotherapy.
Mutational spectrum of SARS-CoV-2 during the global pandemic
이기종,김수연,Bleazard Thomas,김태우,Youk Jeonghwan,주영석 생화학분자생물학회 2021 Experimental and molecular medicine Vol.53 No.-
Viruses accumulate mutations under the influence of natural selection and host–virus interactions. Through a systematic comparison of 351,525 full viral genome sequences collected during the recent COVID-19 pandemic, we reveal the spectrum of SARS-CoV-2 mutations. Unlike those of other viruses, the mutational spectrum of SARS-CoV-2 exhibits extreme asymmetry, with a much higher rate of C>U than U>C substitutions, as well as a higher rate of G>U than U>G substitutions. This suggests directional genome sequence evolution during transmission. The substantial asymmetry and directionality of the mutational spectrum enable pseudotemporal tracing of SARS-CoV-2 without prior information about the root sequence, collection time, and sampling region. This shows that the viral genome sequences collected in Asia are similar to the original genome sequence. Adjusted estimation of the d N /d S ratio accounting for the asymmetrical mutational spectrum also shows evidence of negative selection on viral genes, consistent with previous reports. Our findings provide deep insights into the mutational processes in SARS-CoV-2 viral infection and advance the understanding of the history and future evolution of the virus.
Eltrombopag for Post-Transplant Poor Graft Function in East Asian Patients
Ahn Hyun Jin,Byun Ja Min,Kim Inho,Youk Jeonghwan,Koh Youngil,Shin Dong-Yeop,Hong Junshik,Yoon Sung-Soo 대한의학회 2022 Journal of Korean medical science Vol.37 No.6
Poor graft function (PGF) is a serious, potentially life-threatening complication of allogeneic hematopoietic stem cell transplantation. Eltrombopag has shown multilineage responses in patients with refractory severe aplastic anemia, supporting the idea that it may improve cytopenia in patients with PGF. This retrospective, single center analysis included 8 Korean patients receiving eltrombopag for PGF. Median interval between transplant and eltrombopag treatment was 73 days, and the median duration treatment was 3.5 weeks. With median maximum daily dose of 50 mg, the time to best response was 93 days. Median hemoglobin increased from 8.2 g/dL to 10.9 g/dL, platelet from 18.5 × 109 /L to 54 × 109 /L, and absolute neutrophil count from 1.25 × 109 /L to 3.32 × 109 /L. In conclusion, eltrombopag is a good option for PGF in Korean patients, even at a lower dose compared to western patients.
Treated chronic hepatitis B is a good prognostic factor of diffuse large B-cell lymphoma
Jeayeon Park,Sung Won Chung,Yun Bin Lee,Hyunjae Shin,Moon Haeng Hur,Heejin Cho,Min Kyung Park,Jeonghwan Youk,Ji Yun Lee,Jeong-Ok Lee,Su Jong Yu,Yoon Jun Kim,Jung-Hwan Yoon,Tae Min Kim,Jeong-Hoon Lee 대한간학회 2023 Clinical and Molecular Hepatology(대한간학회지) Vol.29 No.3
Background/Aims: Chronic hepatitis B (CHB) is a risk factor for non-Hodgkin lymphoma (NHL). Our recent study suggested that antiviral treatment may reduce the incidence of NHL in CHB patients. This study compared the prognoses of hepatitis B virus (HBV)-associated diffuse large B-cell lymphoma (DLBCL) patients receiving antiviral treatment and HBV-unassociated DLBCL patients. Methods: This study comprised 928 DLBCL patients who were treated with rituximab, cyclophosphamide, doxorubicin, vincristine, and prednisone (R-CHOP) at two referral centers in Korea. All patients with CHB received antiviral treatment. Time-to-progression (TTP) and overall survival (OS) were the primary and secondary endpoints, respectively. Results: Among the 928 patients in this study, 82 were hepatitis B surface antigen (HBsAg)-positive (the CHB group) and 846 were HBsAg-negative (the non-CHB group). The median follow-up time was 50.5 months (interquartile range [IQR]=25.6–69.7 months). Multivariable analyses showed longer TTP in the CHB group than the non-CHB group both before inverse probability of treatment weighting (IPTW; adjusted hazard ratio [aHR]=0.49, 95% confidence interval [CI]=0.29–0.82, P=0.007) and after IPTW (aHR=0.42, 95% CI=0.26–0.70, P<0.001). The CHB group also had a longer OS than the non-CHB group both before IPTW (HR=0.55, 95% CI=0.33–0.92, log-rank P=0.02) and after IPTW (HR=0.53, 95% CI=0.32–0.99, log-rank P=0.02). Although liver-related deaths did not occur in the non-CHB group, two deaths occurred in the CHB group due to hepatocellular carcinoma and acute liver failure, respectively. Conclusions: Our findings indicate that HBV-associated DLBCL patients receiving antiviral treatment have significantly longer TTP and OS after R-CHOP treatment than HBV-unassociated DLBCL patients.