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1.
Article in English | WPRIM | ID: wpr-719428

ABSTRACT

PURPOSE: With the emergence of next-generation sequencing (NGS) technology, profiling a wide range of genomic alterations has become a possibility resulting in improved implementation of targeted cancer therapy. In Asian populations, the prevalence and spectrum of clinically actionable genetic alterations has not yet been determined because of a lack of studies examining high-throughput cancer genomic data. MATERIALS AND METHODS: To address this issue, 1,071 tumor samples were collected from five major cancer institutes in Korea and analyzed using targeted NGS at a centralized laboratory. Samples were either fresh frozen or formalin-fixed, paraffin embedded (FFPE) and the quality and yield of extracted genomic DNA was assessed. In order to estimate the effect of sample condition on the quality of sequencing results, tissue preparation method, specimen type (resected or biopsied) and tissue storage time were compared. RESULTS: We detected 7,360 non-synonymous point mutations, 1,164 small insertions and deletions, 3,173 copy number alterations, and 462 structural variants. Fifty-four percent of tumors had one or more clinically relevant genetic mutation. The distribution of actionable variants was variable among different genes. Fresh frozen tissues, surgically resected specimens, and recently obtained specimens generated superior sequencing results over FFPE tissues, biopsied specimens, and tissues with long storage duration. CONCLUSION: In order to overcome, challenges involved in bringing NGS testing into routine clinical use, a centralized laboratory model was designed that could improve the NGS workflows, provide appropriate turnaround times and control costs with goal of enabling precision medicine.


Subject(s)
Academies and Institutes , Asians , DNA , Humans , Korea , Methods , Paraffin , Point Mutation , Precision Medicine , Prevalence
3.
Article in English | WPRIM | ID: wpr-713579

ABSTRACT

Alterations in sulfur amino acid metabolism are associated with an increased risk of a number of common late-life diseases, which raises the possibility that metabolism of sulfur amino acids may change with age. The present study was conducted to understand the age-related changes in hepatic metabolism of sulfur amino acids in 2-, 6-, 18- and 30-month-old male C57BL/6 mice. For this purpose, metabolite profiling of sulfur amino acids from methionine to taurine or glutathione (GSH) was performed. The levels of sulfur amino acids and their metabolites were not significantly different among 2-, 6- and 18-month-old mice, except for plasma GSH and hepatic homocysteine. Plasma total GSH and hepatic total homocysteine levels were significantly higher in 2-month-old mice than those in the other age groups. In contrast, 30-month-old mice exhibited increased hepatic methionine and cysteine, compared with all other groups, but decreased hepatic S-adenosylmethionine (SAM), S-adenosylhomocysteine and homocysteine, relative to 2-month-old mice. No differences in hepatic reduced GSH, GSH disulfide, or taurine were observed. The hepatic changes in homocysteine and cysteine may be attributed to upregulation of cystathionine β-synthase and down-regulation of γ-glutamylcysteine ligase in the aged mice. The elevation of hepatic cysteine levels may be involved in the maintenance of hepatic GSH levels. The opposite changes of methionine and SAM suggest that the regulatory role of SAM in hepatic sulfur amino acid metabolism may be impaired in 30-month-old mice.


Subject(s)
Aging , Amino Acids, Sulfur , Animals , Child, Preschool , Cystathionine , Cysteine , Down-Regulation , Glutathione , Homocysteine , Humans , Infant , Male , Metabolism , Metabolomics , Methionine , Mice , Plasma , S-Adenosylhomocysteine , S-Adenosylmethionine , Sulfur , Taurine , Up-Regulation
4.
Article in English | WPRIM | ID: wpr-741179

ABSTRACT

Indeterminate dendritic cell tumor (IDCT) is a dendritic cell tumor that displays histologic features similar to those of Langerhans cells. The origin of the indeterminate cells may represent precursors of Langerhans cells or skin dendritic cells. IDCT is extremely rare, and tumor progression and predictive factors are not well known. Here, we report a case of a 61-year-old man who presented with a papule on his back and was finally diagnosed with IDCT based on histology and immunohistochemistry. The tumor recurred three months after surgical excision.


Subject(s)
Dendritic Cells , Humans , Immunohistochemistry , Langerhans Cells , Middle Aged , Recurrence , Skin
5.
Article in English | WPRIM | ID: wpr-167296

ABSTRACT

PURPOSE: Malignant peripheral nerve sheath tumors (MPNSTs) are a rare subtype of sarcoma that occur spontaneously or in association with neurofibromatosis type 1 (NF-1). This study aimed to clinically differentiate these types of MPNSTs. MATERIALS AND METHODS: The study reviewed 95 patients diagnosed with and treated for MPNST at Yonsei University Health System, Seoul, Korea over a 27-year period. The clinical characteristics, prognostic factors, and treatment outcomes of sporadic MPNST (sMPNST) and NF-1 associated MPNST (NF-MPNST) cases were compared. RESULTS: Patients with NF-MPNST had a significantly lower median age (32 years vs. 45 years for sMPNST, p=0.012), significantly larger median tumor size (8.2 cm vs. 5.0 cm for sMPNST, p < 0.001), and significantly larger numbers of imaging studies and surgeries (p=0.004 and p < 0.001, respectively). The 10-year overall survival (OS) rate of the patients with MPNST was 52±6%. Among the patients with localized MPNST, patients with NF-MPNST had a significantly lower 10-year OS rate (45±11% vs. 60±8% for sMPNST, p=0.046). Univariate analysis revealed the resection margin, pathology grade, and metastasis to be significant factors affecting the OS (p=0.001, p=0.020, and p < 0.001, respectively). Multivariate analysis of the patients with localized MPNST identified R2 resection and G1 as significant prognostic factors for OS. CONCLUSION: NF-MPNST has different clinical features from sMPNST and requires more careful management. Further study will be needed to develop specific management plans for NF-MPNST.


Subject(s)
Humans , Korea , Multivariate Analysis , Neoplasm Metastasis , Neurilemmoma , Neurofibromatoses , Neurofibromatosis 1 , Pathology , Sarcoma , Seoul
6.
Article in English | WPRIM | ID: wpr-134087

ABSTRACT

Extramammary Paget disease (EMPD) is a rare cutaneous neoplasm. Perianal Paget disease (PPD) is a subset of EMPD manifesting perianal lesions. Two cases of PPD in Severance Hospital are described in this article. A 65-year-old female and 78-year-old male patients visited our institution because of an unhealed perianal skin lesion despite treatment for a long period with topical agents. PPD was diagnosed by skin biopsies in both cases, and the patients underwent surgical treatment. Clinical manifestations, preoperative work-ups, and surgical treatments including different reconstruction methods are described in detail. As only sporadic PPD cases have been reported and no standard treatment has been established, we hope that our experience could contribute to improving the diagnosis and treatment of PPD patients.


Subject(s)
Aged , Biopsy , Diagnosis , Female , Hope , Humans , Male , Paget Disease, Extramammary , Skin
7.
Article in English | WPRIM | ID: wpr-134086

ABSTRACT

Extramammary Paget disease (EMPD) is a rare cutaneous neoplasm. Perianal Paget disease (PPD) is a subset of EMPD manifesting perianal lesions. Two cases of PPD in Severance Hospital are described in this article. A 65-year-old female and 78-year-old male patients visited our institution because of an unhealed perianal skin lesion despite treatment for a long period with topical agents. PPD was diagnosed by skin biopsies in both cases, and the patients underwent surgical treatment. Clinical manifestations, preoperative work-ups, and surgical treatments including different reconstruction methods are described in detail. As only sporadic PPD cases have been reported and no standard treatment has been established, we hope that our experience could contribute to improving the diagnosis and treatment of PPD patients.


Subject(s)
Aged , Biopsy , Diagnosis , Female , Hope , Humans , Male , Paget Disease, Extramammary , Skin
8.
Article in English | WPRIM | ID: wpr-32741

ABSTRACT

No abstract available.


Subject(s)
Panniculitis, Peritoneal
11.
Ultrasonography ; : 78-82, 2016.
Article in English | WPRIM | ID: wpr-731194

ABSTRACT

A 53-year-old male with hepatocellular carcinoma underwent orthotopic liver transplantation. Preoperative computed tomography revealed main portal vein luminal narrowing by flat thrombi and the development of cavernous transformation. On post-transplantation day 1, thrombotic portal venous occlusion occurred, and emergency thrombectomy was performed. Subsequent Doppler ultrasonography and contrast-enhanced ultrasonography confirmed the restoration of normal portal venous flow. The next day, however, decreased portal venous velocity was observed via Doppler ultrasonography, and serum liver enzymes and bilirubin levels remained persistently elevated. Direct portography identified massive perfusion steal through prominent splenorenal collateral veins. Stent insertion and balloon angioplasty of the portal vein were performed, and subsequent Doppler ultrasonography demonstrated normalized portal flow parameters. Afterwards, the serum liver enzymes and bilirubin levels rapidly normalized.


Subject(s)
Angioplasty, Balloon , Bilirubin , Carcinoma, Hepatocellular , Emergencies , Humans , Liver Transplantation , Liver , Male , Middle Aged , Perfusion , Phenobarbital , Portal Vein , Portasystemic Shunt, Surgical , Portography , Stents , Thrombectomy , Transplants , Ultrasonography , Ultrasonography, Doppler , Veins
12.
Ultrasonography ; : 148-152, 2015.
Article in English | WPRIM | ID: wpr-731100

ABSTRACT

Seventeen months after kidney transplantation for the treatment of nephrotic syndrome, a retroperitoneal mass was incidentally detected in a 30-year-old man during routine follow-up. Ultrasonography revealed a mass measuring 5.5 cmx4.3 cm located between the liver and the atrophic right kidney, which showed markedly heterogeneous internal echogenicity. Contrast-enhanced computed tomography displayed a mild degree of enhancement only at the periphery of the mass, while the center lacked perceivable intensification. The patient underwent surgical resection. The final pathological diagnosis was non-Hodgkin lymphoma (diffuse large B-cell lymphoma), and extensive necrosis was observed on microscopic examination. We found that the prominent heterogeneous echogenicity of the mass (an unusual finding of lymphoma) demonstrated on ultrasonography is a result of extensive necrosis, which may sometimes occur in patients with post-transplantation lymphoproliferative disorder.


Subject(s)
Adult , B-Lymphocytes , Diagnosis , Follow-Up Studies , Humans , Immunocompromised Host , Kidney , Kidney Transplantation , Liver , Lymphoma , Lymphoma, Non-Hodgkin , Lymphoproliferative Disorders , Necrosis , Nephrotic Syndrome , Ultrasonography
13.
Article in English | WPRIM | ID: wpr-727819

ABSTRACT

NgR1, a Nogo receptor, is involved in inhibition of neurite outgrowth and axonal regeneration and regulation of synaptic plasticity. P19 embryonal carcinoma cells were induced to differentiate into neuron-like cells using all trans-retinoic acid and the presence and/or function of cellular molecules, such as NgR1, NMDA receptors and STAT3, were examined. Neuronally differentiated P19 cells expressed the mRNA and protein of NgR1, which could stimulate the phosphorylation of STAT3 when activated by Nogo-P4 peptide, an active segment of Nogo-66. During the whole period of differentiation, mRNAs of all of the NMDA receptor subtypes tested (NR1, NR2A-2D) were consistently expressed, which meant that neuronally differentiated P19 cells maintained some characteristics of neurons, especially central nervous system neurons. Our results suggests that neuronally differentiated P19 cells expressing NgR1 may be an efficient and convenient in vitro model for studying the molecular mechanism of cellular events that involve NgR1 and its binding partners, and for screening compounds that activate or inhibit NgR1.


Subject(s)
Axons , Central Nervous System , Embryonal Carcinoma Stem Cells , Mass Screening , N-Methylaspartate , Neurites , Neurons , Phosphorylation , Plastics , Receptors, N-Methyl-D-Aspartate , Regeneration , RNA, Messenger , Tretinoin
14.
Article in English | WPRIM | ID: wpr-34042

ABSTRACT

Rectal submucosal lesions encompass a wide variety of benign and malignant tumors involving the rectum. With optical colonoscopy, any mass-like protrusion covered by normal mucosa, whether the underlying process is intramural or extramural in origin, may be reported as a submucosal lesion. Whereas the assessment of submucosal lesions may be limited with performing optical colonoscopy, cross-sectional imaging such as CT, transrectal ultrasonography and MRI allows the evaluation of perirectal tissues and pelvic organs in addition to the entire thickness of the rectum, and so this is advantageous for the assessment of rectal submucosal tumors. Among these, MRI is the best investigative modality for soft tissue characterization. Therefore, knowledge of the MRI features of rectal submucosal tumors can help achieve accurate preoperative diagnoses and facilitate the appropriate management.


Subject(s)
Colonoscopy , Diagnosis, Differential , Humans , Intestinal Mucosa/pathology , Magnetic Resonance Imaging/methods , Rectal Neoplasms/diagnosis
15.
Article in Korean | WPRIM | ID: wpr-95205

ABSTRACT

Multiple-system atrophy (MSA) is an adult-onset, sporadic, progressive neurodegenerative disease. Clinically, the cardinal features include autonomic failure, parkinsonism, cerebellar ataxia, and pyramidal signs in any combination, of which autonomic failure is an integral component in the diagnosis. Pathologically, MSA is characterized by alpha-synuclein-positive glial cytoplasmic inclusions and neuronal loss, predominantly in the basal ganglia, brainstem, cerebellum, and intermediolateral cell columns of the spinal cord. We report the first case of MSA confirmed by autopsy in Korea.


Subject(s)
Atrophy , Autopsy , Basal Ganglia , Brain Stem , Cerebellar Ataxia , Cerebellum , Inclusion Bodies , Korea , Multiple System Atrophy , Neurodegenerative Diseases , Neurons , Parkinsonian Disorders , Spinal Cord
16.
Gut and Liver ; : 329-333, 2009.
Article in English | WPRIM | ID: wpr-86753

ABSTRACT

Achalasia is a rare neurological deficit of the esophagus that produces an impaired relaxation of the lower esophageal sphincter and decreased motility of the esophageal body. Achalasia is generally accepted to be a pre-malignant disorder, since, particularly in the mega-esophagus, chronic irritation by foods and bacterial overgrowth may contribute to the development of dysplasia and carcinoma. We present a case of a 51-year-old man with achalasia combined with esophageal cancer who has had dysphagia symptoms for more than 20 years. Since there was a clinically high possibility of supraclavicular lymph node metastasis, concurrent chemoradiation therapy was scheduled. After the third cycle of chemoradiation therapy, transthoracic esophageolymphadenectomy was performed. Histopathological examination of the main esophagus specimen revealed no residual carcinoma. And the entire regional lymph node areas were free of carcinoma except for one azygos metastatic lymph node. In summary, achalasia is a predisposing factor for esophageal squamous cell carcinoma. Although surveillance endoscopy in achalasia patients is still controversial, periodic screening for cancer development in long-standing achalasia patients might be advisable.


Subject(s)
Carcinoma, Squamous Cell , Deglutition Disorders , Endoscopy , Esophageal Achalasia , Esophageal Neoplasms , Esophageal Sphincter, Lower , Esophagus , Humans , Lymph Nodes , Mass Screening , Middle Aged , Neoplasm Metastasis , Relaxation
17.
Article in English | WPRIM | ID: wpr-123700

ABSTRACT

BACKGROUND: High microsatellite instability (MSI-H) colorectal carcinomas (CRCs) with numerous mutations in the microsatellite sequence are characterized by a right-sided preponderance, frequent peritumoral and intratumoral lymphocytic infiltration, and frequent mucin production. However, no study has correlated anatomic site and type of genetic changes with clinicopathologic changes. METHODS: We analyzed the histopathologic features of 135 MSI-H CRCs and compared them to 140 microsatellite stable (MSS) CRCs. Histopathologic changes in MSI-H were further analyzed according to anatomic sites and genetic changes. RESULTS: MSI-H CRCs showed previously reported clinicopathologic findings; a right-sided preponderance, an increased number of mucinous carcinomas, and peritumoral lymphoid reactions (p<0.001 for each variable). Increased serum CEA levels showed an MSS CRC preponderance (p=0.013). We further analyzed the histologic differences between right- and left-sided MSI-H tumors. We found that MSI-H CRCs on both sides had similar clinicopathologic findings, except for higher tumor stage (p=0.048) and less frequent abnormal CEA levels in left-sided MSI-H tumors (p=0.027). We found that not all clinicopathologic features were different between hereditary nonpolyposis colorectal cancers (HNPCCs) and sporadic MSI-H CRCs. CONCLUSIONS: These findings indicate that MSI-H CRCs of the left colon have similar clinicopathologic characteristics as right-sided MSI-H CRCs. We did not find any significant clinicopathological difference between HNPCCs and sporadic MSI-H CRCs.


Subject(s)
Adenocarcinoma, Mucinous , Calcium Hydroxide , Colon , Colonic Neoplasms , Colorectal Neoplasms , Colorectal Neoplasms, Hereditary Nonpolyposis , Microsatellite Instability , Microsatellite Repeats , Mucins , Zinc Oxide
19.
Article in Korean | WPRIM | ID: wpr-151443

ABSTRACT

Brunner's gland hyperplasia is a rare tumor of the duodenum and might also be an unusual cause of gastrointestinal bleeding. In symptomatic patients, treatment requires either surgical resection or endoscopic polypectomy. We report a case of upper gastrointestinal bleeding from a pedunculated Brunner's gland hyperplasia in the duodenal bulb. Endoscopic resection using the detachable snare and hemoclipping was instituted to remove a large pedunculated polyp. The pathologic diagnosis was Brunner's gland hyperplasia with adenomyomatous hyperplasia.


Subject(s)
Adult , Brunner Glands/pathology , Duodenum/pathology , Gastrointestinal Hemorrhage/etiology , Humans , Hyperplasia/complications , Laparoscopy , Male , Precancerous Conditions/pathology , Stents
20.
Article in Korean | WPRIM | ID: wpr-28362

ABSTRACT

Pneumatosis coli (PC) is a rare disease that is characterized by multiple, varying-sized cysts at the mucosa or submucosa in the colon and sigmoid colon. About 85% of PC is associated in other gastrointestinal, pulmonary and connective diseases. Ischemic colitis is rarely associated with PC. The symptoms of PC are not specific, and the patients with this malady present with hematochezia, abdominal pain, diarrhea and other symptoms associated with their underlying diseases. Colonoscopy and computed tomography are recommended for making the diagnosis. The underlying diseases should be treated and oxygen therapy, intra-venous antibiotics and/or surgical treatment can be used. The prognosis is generally good, but volvulus, intussusception, intestinal obstruction, bleeding and perforation can occur in 3% of these patients. We experienced two patients who initially presented with hematochezia and they were found to have PC and ischemic colitis according to the colonoscopy exams; these are the first such reported cases in Korea. Both patients were treated conservatively with low-dose oxygen therapy and intra-venous metronidazole. We report here on 2 cases of PC associated with ischemic colitis, and we review the relevant literature.


Subject(s)
Abdominal Pain , Anti-Bacterial Agents , Colitis, Ischemic , Colon , Colon, Sigmoid , Colonoscopy , Diarrhea , Gastrointestinal Hemorrhage , Hemorrhage , Humans , Intestinal Obstruction , Intestinal Volvulus , Intussusception , Korea , Metronidazole , Mucous Membrane , Oxygen , Prognosis , Rare Diseases
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