1.NUP214 Rearrangements in Leukemia Patients:A Case Series From a Single Institution
Yu Jeong CHOI ; Young Kyu MIN ; Seung-Tae LEE ; Jong Rak CHOI ; Saeam SHIN
Annals of Laboratory Medicine 2024;44(4):335-342
Background:
The three best-known NUP214 rearrangements found in leukemia (SET::NUP214, NUP214::ABL1, and DEK::NUP214) are associated with treatment resistance and poor prognosis. Mouse experiments have shown that NUP214 rearrangements alone are insufficient for leukemogenesis; therefore, the identification of concurrent mutations is important for accurate assessment and tailored patient management. Here, we characterized the demographic characteristics and concurrent mutations in patients harboring NUP214 rearrangements.
Methods:
To identify patients with NUP214 rearrangements, RNA-sequencing results of diagnostic bone marrow aspirates were retrospectively studied. Concurrent targeted nextgeneration sequencing results, patient demographics, karyotypes, and flow cytometry information were also reviewed.
Results:
In total, 11 patients harboring NUP214 rearrangements were identified, among whom four had SET::NUP214, three had DEK::NUP214, and four had NUP214::ABL1. All DEK::NUP214-positive patients were diagnosed as having AML. In patients carrying SET::NUP214 and NUP214::ABL1, T-lymphoblastic leukemia was the most common diagnosis (50%, 4/8). Concurrent gene mutations were found in all cases. PFH6 mutations were the most common (45.5%, 5/11), followed by WT1 (27.3%, 3/11), NOTCH1 (27.3%, 3/11), FLT3-internal tandem duplication (27.3%, 3/11), NRAS (18.2%, 2/11), and EZH2 (18.2%, 2/11) mutations. Two patients represented the second and third reported cases of NUP214::ABL1-positive AML.
Conclusions
We examined the characteristics and concurrent test results, including gene mutations, of 11 leukemia patients with NUP214 rearrangement. We hope that the elucidation of the context in which they occurred will aid future research on tailored monitoring and treatment.
2.Circulating Tumor DNA Reflects Histologic and Clinical Characteristics of Various Lymphoma Subtypes
Jin Ju KIM ; Hye Min KIM ; Hongkyung KIM ; Soo-Jeong KIM ; Seung-Tae LEE ; Jong Rak CHOI ; Saeam SHIN ; Doh Yu HWANG
Cancer Research and Treatment 2024;56(1):314-323
Purpose:
We designed and evaluated the clinical performance of a plasma circulating tumor DNA (ctDNA) panel of 112 genes in various subtypes of lymphoma.
Materials and Methods:
Targeted deep sequencing with an error-corrected algorithm was performed in ctDNA from plasma samples that were collected before treatment in 42 lymphoma patients. Blood buffy coat was utilized as a germline control. We evaluated the targeted gene panel using mutation detection concordance on the plasma samples with matched tissue samples analyzed the mutation profiles of the ctDNA.
Results:
Next-generation sequencing analysis using matched tissue samples was available for 18 of the 42 patients. At least one mutation was detected in the majority of matched tissue biopsy samples (88.9%) and plasma samples (83.3%). A considerable number of mutations (40.4%) that were detected in the tissue samples were also found in the matched plasma samples. Majority of patients (21/42) were diffuse large B cell lymphoma patients. The overall detection rate of ctDNA in patients was 85.7% (36/42). The frequently mutated genes included PIM1, TET2, BCL2, KMT2D, KLHL6, HIST1H1E, and IRF8. A cutoff concentration (4,506 pg/mL) of ctDNA provided 88.9% sensitivity and 82.1% specificity to predict ctDNA mutation detection. The ctDNA concentration correlated with elevated lactate dehydrogenase level and the disease stage.
Conclusion
Our design panel can detect many actionable gene mutations, including those at low frequency. Therefore, liquid biopsy can be applied clinically in the evaluation of lymphoma patients, especially in aggressive lymphoma patients.
3.Trapping and A4-A4 end-to-side anastomosis for the treatment of a ruptured A3 fusiform aneurysm: Potential risk of in-situ bypass
Young Rak KIM ; Sung Ho LEE ; Jin Woo BAE ; Young Hoon CHOI ; Eun Jin HA ; Kang Min KIM ; Won-Sang CHO ; Hyun-Seung KANG ; Jeong Eun KIM
Journal of Cerebrovascular and Endovascular Neurosurgery 2023;25(1):62-68
The treatment of complicated anterior cerebral artery aneurysms remains challenging. Here, the authors describe a case of ruptured complicated A3 aneurysm, which was treated with trapping and in-situ bypass. A 47-year-old man presented to the emergency department with severe headache and vomiting. Computed tomography illustrated acute intracerebral hemorrhage in the right frontal lobe. Digital subtraction angiography (DSA) confirmed a ruptured fusiform A3 aneurysm with lobulation and a daughter sac. Trapping of the ruptured fusiform A3 aneurysm and distal end-toside A4 anastomosis was performed. DSA on postoperative day 7 showed mild vasospasm to the afferent artery. However, 2 months later, DSA demonstrated that the antegrade flow through the anastomosis site had recovered. Thus, surgeons should be aware of the possibility of postsurgical vasospasm of anastomosed arteries, especially in cases of ruptured aneurysms.
4.Computed tomography–assessed presarcopenia and clinical outcomes after laparoscopic surgery for rectal cancer
Ji Hyeong SONG ; Rak Kyun OH ; Jeong Eun LEE ; Kyung Ha LEE ; Ji Yeon KIM ; Jin Soo KIM
Annals of Coloproctology 2023;39(6):513-520
Purpose:
Previous studies have reported that presarcopenia negatively affects rectal cancer treatment. However, most studies have analyzed patients including majority of open surgery, and the association between presarcopenia and clinical outcomes after laparoscopic rectal cancer surgery remains unclear. This study aimed to evaluate the impact of presarcopenia on the clinical and oncological outcomes after laparoscopic rectal cancer surgery.
Methods:
Three hundred and one patients undergoing laparoscopic rectal cancer surgery between December 2009 and May 2016 were enrolled. Body composition was assessed using computed tomography by measuring the muscle and fat areas at the third lumbar (L3) vertebra. The L3 skeletal muscle area was used to calculate the skeletal muscle index and evaluate presarcopenia.
Results:
Presarcopenia was more common in older ( ≥ 70 years, P = 0.008) or female patients (P = 0.045). Patients with presarcopenia had decreased skeletal muscle area (P < 0.001), lower hemoglobin level (P = 0.034), longer time to first flatus (P < 0.001), and more frequent surgical site infection (P = 0.001). However, survival rates were not significantly different between those with and without presarcopenia.
Conclusion
Computed tomography-assessed presarcopenia was associated with delayed functional recovery and increased surgical site infection, although it was not revealed as a prognostic factor for oncological outcomes.
5.Safety and Management Status of Anatomical Labs in Medical Schools
Jae-Hee PARK ; Kwang-Rak PARK ; An-Na BAE ; Han-Gyu JEONG ; Jae-Ho LEE
Keimyung Medical Journal 2022;41(2):76-79
It is necessary to install ventilation facilities in the laboratory and to regularly monitor harmful gases including formalin for safe environment of the dissection laboratory. However, there are no indicators that can identify the current status of ventilation facilities, safety equipment, and protective equipment in the dissection laboratory. In this study, the status of safety management of anatomical lab at domestic medical, dental, and oriental medical universities are investigated through an online questionnaire. Of the total 32 universities, 7 universities (21.8%) regularly monitor harmful gases such as formalin in the dissection lab, 13 universities (40.6%) do it on an irregular basis, and 12 do not do it at all. Seven universities (21.8%) are using the exhaust-type dissection table, 24 universities (75%) are not using it. Regarding the need for standards for manpower and facilities in the management of the anatomy lab, 7 universities (21.8%) are mediocre, 21 universities are necessary (65.6%), and 4 universities (12.5%) are very necessary. The responsibility for anatomy lab is 27 universities (84.3%) of the schools that responded as head professors of the department of anatomy, 3 universities (9.3%) of technicians, and 2 universities (6.2%) of the dean of the medical school. Regarding the need for standards for the anatomical lab, 7 universities (21.8%) are very necessary, 21 universities (65.6%) are necessary, and 4 universities (12.5%) are mediocre. Based on this data, the standard for the quality improvement and safety of anatomical education should be prepared.
6.Monoclonal Gammopathy-Associated Scleredema Adultorum of Buschke in a Patient with Diabetes Mellitus Successfully Treated with Intravenous Immunoglobulin and Narrow-Band Ultraviolet B Phototherapy: A Case Report
Kyu Rak HONG ; Jeong Yeon HONG ; Euy Hyun CHUNG ; Sul Hee LEE ; Sung Won LEE ; Jung Eun KIM
Annals of Dermatology 2021;33(6):586-588
no abstract available.
7.Benzydamine inhibits osteoclast differentiation and bone resorption down-regulation of interleukin-1 expression.
Han Saem SON ; Jiae LEE ; Hye In LEE ; Narae KIM ; You-Jin JO ; Gong-Rak LEE ; Seong-Eun HONG ; Minjeong KWON ; Nam Young KIM ; Hyun Jin KIM ; Jin Ha PARK ; Soo Young LEE ; Woojin JEONG
Acta Pharmaceutica Sinica B 2020;10(3):462-474
Bone diseases such as osteoporosis and periodontitis are induced by excessive osteoclastic activity, which is closely associated with inflammation. Benzydamine (BA) has been used as a cytokine-suppressive or non-steroidal anti-inflammatory drug that inhibits the production of pro-inflammatory cytokines or prostaglandins. However, its role in osteoclast differentiation and function remains unknown. Here, we explored the role of BA in regulating osteoclast differentiation and elucidated the underlying mechanism. BA inhibited osteoclast differentiation and strongly suppressed interleukin-1 (IL-1) production. BA inhibited osteoclast formation and bone resorption when added to bone marrow-derived macrophages and differentiated osteoclasts, and the inhibitory effect was reversed by IL-1 treatment. The reporter assay and the inhibitor study of IL-1 transcription suggested that BA inhibited nuclear factor-B and activator protein-1 by regulating IB kinase, extracellular signal regulated kinase and P38, resulting in the down-regulation of IL-1 expression. BA also promoted osteoblast differentiation. Furthermore, BA protected lipopolysaccharide- and ovariectomy-induced bone loss in mice, suggesting therapeutic potential against inflammation-induced bone diseases and postmenopausal osteoporosis.
8.Anti-adipogenic Pregnane Steroid from a Hydractinia-associated Fungus, Cladosporium sphaerospermum SW67
Seoung Rak LEE ; Heesun KANG ; Min Jeong YOO ; Sang Ah YI ; Christine BEEMELMANNS ; Jaecheol LEE ; Ki Hyun KIM
Natural Product Sciences 2020;26(3):230-235
A pregnane steroid, 3α-hydroxy-pregn-7-ene-6,20-dione (1), was isolated from a Hydractinia-associated Cladosporium sphaerospermum SW67 by repetitive column chromatographic separation and highperformance liquid chromatography (HPLC) purification. The planar structure of 1 was elucidated from the analysis of the spectroscopic data (1D and 2D NMR spectra) and LC-MS data. The absolute configuration of 1 was determined by interpretation of ROESY spectrum of 1, together with the comparison of reported spectroscopic values in previous studies. To the best of our knowledge, this is the first report of the identification of the pregnane scaffold from C. sphaerospermum, a natural source. Compound 1 was evaluated for its effects on lipid metabolism and adipogenesis during adipocyte maturation and showed that compound 1 substantially inhibited lipid accumulation compared to the control. Consistently, the expression of the adipocyte marker gene (Adipsin) was reduced upon incubation with 1. Further, we evaluated the effects of 1 on lipid metabolism by measuring the transcription of lipolytic and lipogenic genes. The expression of the lipolytic gene ATGL was significantly elevated upon exposure to 1 during adipogenesis, whereas the expression of lipogenic genes FASN and SREBP1 was significantly reduced upon treatment with 1. Thus, our findings provide experimental evidence that the steroid derived from Hydractinia-associated C. sphaerospermum SW67 is a potential therapeutic agent for obesity.
9.Clinical impact of sarcopenia in patients with colon cancer undergoing laparoscopic surgery
Rak Kyun OH ; Hye Mi KO ; Jeong Eun LEE ; Kyung Ha LEE ; Ji Yeon KIM ; Jin Soo KIM
Annals of Surgical Treatment and Research 2020;99(3):153-160
Purpose:
Previous studies have reported that progressive muscle loss, known as sarcopenia, has a negative impact on colon cancer treatment. However, the majority of studies have analyzed on patients undergoing open resection, and the association of sarcopenia with clinical outcomes is not clear for patients with colon cancer undergoing laparoscopic surgery. Thus, the aim of this study was to evaluate the impact of sarcopenia on clinical outcomes after laparoscopic surgery for colon cancer.
Methods:
A total of 423 patients who underwent laparoscopic surgery for colon cancer between November 2010 and October 2014 were included. Body composition was assessed by measuring muscle and fat areas at the third lumbar vertebra (L3) on preoperative computed tomography. The L3 skeletal muscle area was used to calculate the skeletal muscle index and to assess for sarcopenia.
Results:
Sarcopenia was identified in 54 patients (12.8%). The median time to first flatus (3 days), median time to tolerable soft diet (4 days), and median length of hospital stay (7 days) were not significantly different between patients with and without sarcopenia. However, sarcopenia was an independent risk factor for postoperative complications in the logistic regression multivariate analysis (p = 0.015). Sarcopenia was not associated with overall or disease-free survival.
Conclusion
Sarcopenia was not negatively associated with functional recovery, hospital stay, and oncologic outcomes in patients with colon cancer who underwent laparoscopic surgery. However, sarcopenia was associated with postoperative complications after laparoscopic surgery for colon cancer.
10.Safety and Efficacy of Biodegradable Polymer-biolimus-eluting Stents (BP-BES) Compared with Durable Polymer-everolimus-eluting Stents (DP-EES) in Patients Undergoing Complex Percutaneous Coronary Intervention
Pil Sang SONG ; Kyu Tae PARK ; Min Jeong KIM ; Ki Hyun JEON ; Jin Sik PARK ; Rak Kyeong CHOI ; Young Bin SONG ; Seung Hyuk CHOI ; Jin Ho CHOI ; Sang Hoon LEE ; Hyeon Cheol GWON ; Jin Ok JEONG ; Eul Soon IM ; Sang Wook KIM ; Woo Jung CHUN ; Ju Hyeon OH ; Joo Yong HAHN
Korean Circulation Journal 2019;49(1):69-80
BACKGROUND AND OBJECTIVES: There are no data comparing clinical outcomes of complex percutaneous coronary intervention (PCI) between biodegradable polymer-biolimus-eluting stents (BP-BES) and durable polymer-everolimus-eluting stents (DP-EES). We sought to evaluate the safety and efficacy of BP-BES compared with DP-EES in patients undergoing complex PCI. METHODS: Patients enrolled in the SMART-DESK registry were stratified into 2 categories based on the complexity of PCI. Complex PCI was defined as having at least one of the following features: unprotected left main lesion, ≥2 lesions treated, total stent length >40 mm, minimal stent diameter ≤2.5 mm, or bifurcation as target lesion. The primary outcome was target lesion failure (TLF), defined as a composite of cardiac death, target vessel-related myocardial infarction (TV-MI), or target lesion revascularization (TLR) at 2 years of follow-up. RESULTS: Of 1,999 patients, 1,145 (57.3%) underwent complex PCI: 521 patients were treated with BP-BES and 624 with DP-EES. In propensity-score matching analysis (481 pairs), the risks of TLF (3.8% vs. 5.2%, adjusted hazard ratio [HR], 0.578; 95% confidence interval [CI], 0.246–1.359; p=0.209), cardiac death (2.5% vs. 2.5%, adjusted HR, 0.787; 95% CI, 0.244–2.539; p=0.689), TV-MI (0.5% vs. 0.4%, adjusted HR, 1.128; 95% CI, 0.157–8.093; p=0.905), and TLR (1.1% vs. 2.9%, adjusted HR, 0.390; 95% CI, 0.139–1.095; p=0.074) did not differ between 2 stent groups after complex PCI. CONCLUSIONS: Clinical outcomes of BP-BES were comparable to those of DP-EES at 2 years after complex PCI. Our data suggest that use of BP-BES is acceptable, even for complex PCI.
Coronary Artery Disease
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Death
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Drug-Eluting Stents
;
Follow-Up Studies
;
Humans
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Myocardial Infarction
;
Percutaneous Coronary Intervention
;
Stents

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