지방육종을 모방하는 거대 후복막 혈관근육지방종 - 짧은 증례 보고 -

이다근,한정호,하홍일,김성주,최동일 대한병리학회 2007 Journal of Pathology and Translational Medicine Vol.41 No.6

Extrarenal retroperitoneal angiomyolipomas (AML) are extremely rare, therefore they may present a diagnostic challenge. In this paper, the authors describe a case of a huge retroperitoneal AML in a 49-year-old woman who presented with sudden abdominal pain. Computed tomography revealed the presence of a large, round, fatty mass in the retroperitoneal space, which was easily removed by surgery. The mass was well encapsulated and dark yellow on the cut surface. Microscopically, the tumor was exclusively composed of adipose tissue with frequent multivacuolated, lipoblast-like cells masquerading as well differentiated liposarcoma. In addition, there were many clear, epithelioid cells present, especially around the small blood vessels, which were reactive for HMB-45 and smooth muscle actin.

MET-Amplified Intramucosal Gastric Cancer Widely Metastatic after Complete Endoscopic Submucosal Dissection

이다근,김영철,이기명,윤준기,김영배 대한암학회 2015 Cancer Research and Treatment Vol.47 No.1

Intramucosal gastric cancer (IGC) is associated with a very low risk of lymph nodemetastasis; thus it is the main candidate for minimally invasive surgical procedures,such as endoscopic submucosal dissection (ESD). Herein, we document an extraordinarycase of IGC, which showed a very aggressive clinical course. A 66-year-old femaleunderwent ESD for early gastric cancer. Histologically, the tumor consistedmainly of moderately differentiated adenocarcinoma measuring 1.6 cm in diameter,and the tumor was confined to the mucosa. Despite annual esophagogastroduodenoscopicfollow-up, the tumor recurred, with wide metastasis to multiple lymph nodesand bones throughout the body after three years. Fluorescence in situ hybridizationstudy demonstrated MET gene amplification as well as low grade polysomy 7 in bothoriginal and recurrent tumors. The clinical characteristics of metastatic IGCs and theimplication of MET amplification are discussed.

Primary Gastric Histiocytic Sarcoma Reminiscent of Inflammatory Pseudotumor: A Case Report with Review of the Literature

이다근,김영배,정숙희,이상령,변철수,한상욱,한재호 대한병리학회 2014 Journal of Pathology and Translational Medicine Vol.48 No.3

팽대부 샘편평상피 암종 - 2예 보고 -

이다근,박철근,안긍환,김성주,허진석,이규택,박상희,장기택 대한병리학회 2006 Journal of Pathology and Translational Medicine Vol.40 No.2

Primary adenosquamous carcinoma of the ampulla of Vater is extremely rare. We report two cases of adenosquamous carcinoma of the ampulla of Vater in a 48-year-old female and an 80-year-old female patient. The gross appearance was a polypoid mass in both cases. Histologically, the majority of the two tumors was composed of squamous cell carcinoma with some intermingled glandular adenocarcinoma components in both cases. Squamous cell carcinomas showed an abrupt transition from the normal glandular epithelium or glandular adenocarcinoma. Although the two cases revealed duodenal wall invasion and lymph node metastasis was found in case 2, both patients are still alive at 19 and 46 months after surgery, respectively.

Single Pulmonary Langerhans Cell Histiocytosis Mimicking Metastasis in Lung Cancer: Imaging with 18F-FDG PET/CT

송희성,이다근,박성용,안영실,윤준기,이수진 대한핵의학회 2015 핵의학 분자영상 Vol.49 No.3

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Gastric Syphilis Mimicking Adenocarcinoma: A Case Report

최윤라,한재준,이다근,조민호,권기영,고영혜,박철근,안긍환 대한의학회 2006 Journal of Korean medical science Vol.21 No.3

Syphilis is an unexpected diagnosis in the stomach, and the reduced incidence of syphilis has made its clinical presentation less widely appreciated. We report a 43- yr-old man suffering from epigastric tenderness with an initial diagnosis of gastric carcinoma; gastric syphilis was confirmed by demonstrating spirochetes in a gas-tric biopsy specimen by silver impregnation. Excessive lymphoplasmacytic infiltra-tion with diffuse thickening of gastric rugae should raise suspicion of gastric syphilis, which should be considered in the differential diagnosis of diffuse erosive gastritis and infiltrative lesions of the stomach.

Localized Adenomyomatosis of Gallbladder Mimicking Advanced Hepatic Flexure Colon Cancer: A Case Report

서배선,김보현,이다근,이기명,이제희,김혜진,김재근 대한영상의학회 2018 대한영상의학회지 Vol.79 No.5

Localized forms of gallbladder adenomyomatosis are rarely polypoid and may mimic gallbladder cancer. Herein, we present a unique case of polypoid gallbladder adenomyomatosis penetrating the colon and preoperatively misdiagnosed as advanced hepatic flexure colon cancer.

Two Cases of Fibrous Obliteration of the Appendix, Mimicking Acute Appendicitis

최선주,장윤진,이다근,조승현,김갑철,배지혜,박진영,천재민 대한영상의학회 2014 대한영상의학회지 Vol.70 No.6

Acute appendicitis is the most frequent appendiceal disease, but some chronic inflammatory conditions can mimic it on computed tomography (CT). We recently experienced two rare cases of appendiceal conditions, which were uncommon to our radiologists and clinicians. This condition is called fibrous obliteration of the appendix, which is a condition that involves replacement of the mucosa and submucosa with fibrotic tissues. Due to similar clinical symptoms and CT findings, fibrous obliteration of the appendix can easily be mistaken as an acute appendicitis. Here, we introduce the symptoms, laboratory results, CT findings, and histological examination findings of two adult patients with fibrous obliteration of the appendix.

Familial Glycogen Storage Disease Type IXa Diagnosed by Targeted Exome Sequencing

손영배,장주영,이다근,장자현,Sohn, Young Bae,Jang, Ju Young,Lee, Dakeun,Jang, Ja-Hyun The Korean Society of Inherited Metabolic Disease 2017 대한유전성대사질환학회지 Vol.17 No.3

당원병 IX형은 phosphorylase kinase 효소 결핍으로 분해되지 않은 당원이 간 또는 근육에 축적되는 유전성대사이상질환이다. 당원병 IXa형은 당원병 IX형 중 가장 흔한 형태로 PHKA2 유전자 변이로 발생한다. 당원병 IXa형의 임상증상은 간 비대, 간 효소 수치 상승, 성장 지연, 저혈당 등이 있다. 그러나, 이러한 임상 증상은 다른 타입의 당원병의 증상과 비슷하거나 겹쳐서 임상적으로는 구분하기가 어렵다. 저자들은 표적 엑솜 시퀀싱으로 진단된 가족성 당원병 IXa형 증례를 보고하고자 한다. 4세 남아가 간 비대와 간 효소 수치 상승을 주소로 내원하였다. 간 조직검사결과 간세포에 당원이 축적되어 있어 당원병을 의심하였으나 G6PC 유전자 검사는 음성이었다. 이에 당원병 타입을 감별진단 하기 위해 표적 엑솜시퀀싱을 시행하였으며, PHKA2 유전자에서 질환과의 연관성이 이미 보고된 바 있는 c.3632C>T (p.Thr121Met) 변이가 반접합체(hemizygote)로 발견되어 당원병 IXa로 진단하였다. 가족 유전자 검사를 통해 어머니가 이형접합체 보인자임을 확인하였으며, 남동생이 같은 변이를 가진 반접합체임을 확인하였다. 28개월 된 환자의 남동생 역시 신체 검진 상 간 비대가 있었으며, 혈액검사상 간 효소 수치가 상승되어 있어 같은 질환으로 확진하였다. 이환된 형제 모두 생 옥수수 전분 섭취와 복합 탄수화물을 섭취하도록 식이 조절을 하였으며 2년 추적관찰 동안 정상 성장 발달을 보이고 있다. 당원병과 같이 임상적으로 구분이 어려우며 유전학적으로 다양한 유전자 변이를 보이는 당원병과 같은 질환의 분자 유전학적 감별진단에 표적 엑솜 시퀀싱이 유용한 진단법이 될 수 있다. 신속하고 정확한 분자 유전학적 감별진단을 통해 환자와 보호자에게 질병의 적절한 치료법, 질병의 예후에 관한 정확한 정보를 제공할 수 있을 뿐 아니라, 적절한 유전상담을 제공할 수 있다. Glycogen storage disease type IX (GSD IX) is caused by deficiency of phosphorylase kinase which plays a role in breakdown of glycogen. Mutations in PHKA2 are the most common cause of GSD IX (GSD IXa). Clinical manifestations of GSD IXa include hepatomegaly, elevation of liver enzyme, growth retardation, fasting hypoglycemia, and fasting ketosis. However, the symptoms overlap with those of other types of GSDs. Here, we report Korean familial cases with GSD IXa whose diagnosis was confirmed by targeted exome sequencing. A 4-year old male patient was presented with hepatomegaly and persistently elevated liver enzyme. Liver biopsy revealed swollen hepatocyte filled with glycogen storage, suggesting GSDs. Targeted exome sequencing was performed for the differential molecular diagnosis of various types of GSDs. A hemizygous mutation in PHKA2 were detected by targeted exome sequencing and confirmed by Sanger sequencing: c.3632C>T (p.Thr121Met), which was previously reported. The familial genetic analysis revealed that his mother was heterozygous carrier of c.3632C>T mutation and his 28-month old brother had hemizygous mutation. His brother also had hepatomegaly and elevated liver enzyme. The hypoglycemia was prevented by frequent meals with complex carbohydrate, as well as cornstarch supplements. Their growth and development is in normal range. We suggest that targeted exome sequencing could be a useful diagnostic tool for the genetically heterogeneous and clinically indistinguishable GSDs. A precise molecular diagnosis of GSD can provide appropriate therapy and genetic counseling for the family.

Comparison of the DNA Preservation in Neutral-Buffered Formalin Fixed Paraffin-Embedded Tissue and in Non-Buffered Formalin Fixed Paraffin-Embedded Tissue

서안나,김재훈,이다근,정지윤,박지영 대한병리학회 2011 Journal of Pathology and Translational Medicine Vol.45 No.6

Background: The preservation of optimized DNA and its extraction from formalin-fixed, paraffin-embedded (FFPE) tissues are important issues. There has been some doubt over whether 10% neutral-buffered formalin is an ideal fixation solution for DNA preservation over non-buffered for¬malin, as conventionally recommended. In this study, the correlation between the efficiency of DNA extraction from FFPE tissues and buffered formalin was evaluated. Methods: Several tis-sues with same conditions except fixatives were fixed in four different formalin solution groups and were routinely processed as paraffin-embedding protocols. DNAs were extracted from four different FFPE tissues that were stored for over 3 months and over 9 months. The quantity and quality of the DNAs were assessed with a NanoDrop ND-1000 spectrophotometer, and the poly-merase chain reaction (PCR) amplification and degradation were analyzed via microchip electro-phoresis. KRAS mutation analysis and microsatellite instability (BAT25) PCR were performed with each sample. Results: The results showed no remarkable difference in the four groups. Conclu-sions: The study findings demonstrate that DNA preservation is fairly unaffected by a neutral buf-fer where there is short formalin manufacture period and an adequate formalin fixation time be-fore embedding in paraffin.