Molecular Subtypes of Primary Glioblastoma Identified by Gene Expression Profiling

Gheeyoung Choe,Paul S. Mischel 대한병리학회 2002 Journal of Pathology and Translational Medicine Vol.36 No.5

Background : The over-expression of the epidermal growth factor receptor (EGFR) occurs in nearly 50% of primary glioblastoma multiforme (GBM). Disruption of multiple signaling pathways is a critical factor in regulating the biological and clinical behavior of GBMs. In the future, therapy that specifically targets these disrupted pathways may represent the best potential treatment for patients with GBM. Large scale gene expression profiling provides a powerful approach to identify these disrupted genetic pathways and to uncover previously unknown molecular subtypes. Methods : We used 13 cases of primary GBM biopsy samples obtained from untreated patients and Affymetrix high-density oligonucleotide arrays to identify novel subsets of primary GBMs. Results : We showed that the expression of 90 genes differentiate EGFR+ from EGFR non-expressing (EGFR-) de novo GBMs, including expression of a number of potentially targetable molecules that act as growth/survival factors for GBMs. We also demonstrated the presence of two additional molecular subtypes of primary GBMs, including one characterized by the coordinate upregulation of contiguous genes on chromosome 12q13-15, which has a distinct global gene expression profile and expresses both astrocytic and oligodendroglial genes. Conclusion : We have shown that there are EGFR+ primary GBMs, GBMs with coordinate upregulation of genes on chromosome 12q13-15, and primary GBMs lacking either alteration. Moreover, they have distinct transcriptional profiles. Our findings strongly suggest that the three GBMs are biologically different tumor types, despite their identical microscopic appearance, and provide an important first step in developing a molecular taxonomy of GBMs.

중추신경계 생식세포종양 : 13예의 임상 병리학적 분석 Clinicopathological analysis of 13 cases

최기영,공경엽,이정교,황충진,유은실,이인철 울산대학교 의과대학 1992 울산의대학술지 Vol.1 No.1

To elucidate the clinicopathological characteristics of the intracranial germ cell tumors, retrospectively examined were 13 cases that were histologically confirmed in Asan Medical Center between January 1990 and August 1992. Germ cell tumors of the central nervous system consisted of 10 cases of germinomas, one cases of endodermal sinus tumor, one embryonal carcinoma, and one mixed germ cell tumor(immature teratoma + choriocarcinoma + embryonal carcinoma). All the germinomas presented during the first three decades of life, and they were most common in the second decade with median age of 12 and were equally divided between the sexes. Germinomas were located almost exclusively in midline structures, particularly suprasellar area and/or pineal region. Occasionally, germinomas occured away from the midline in such sites as the thalamus or basal ganglia. in the suprasellar location the triad of diabetes insipidus, visual defect and hypopituitarism was typically produced. Cytological examinations of CSF or intraoperative aspiration were much useful in the diagnosis of germinomas. Histological features of the germ cell tumors were generally agreed with serum or CSF levels of tumor markers such as HCG, AFP and CEA. However, two of ten germinomas disclosed discrepency between them. Therefore, stressed was the importance of collective consideration for both tissue diagnosis and tumor marker studies. Most germ cell tumors responded to radiation therapy with or without adjuvant chemotherapy following initial surgical biopsy, at least for the short-term follow-up periods.

Fourth Ventricle Neurenteric Cyst Mimicking Hemangioblastoma

( Eugenie Choe ),( Kihwan Hwang ),( Gheeyoung Choe ),( Chae-yong Kim ) 대한뇌종양학회 대한신경종양학회 2017 Brain Tumor Research and Treatment Vol.5 No.1

This report presents a case of fourth ventricle neurenteric cyst (NE cyst) mimicking hemangioblastoma, which developed in a 50-year-old woman. A tiny enhancing mural portion of the fourth ventricle in MRI suggested that the cyst was hemangioblastoma, but pathological evidence showed that the cyst was in fact NE cyst in the fourth ventricle. In order to make proper decision on to what extent of surgical resection should be done, considering every possibility in differential diagnosis might be helpful. This case reports an unusual pathology in 4th ventricle, considering the patient`s age, and demonstrates that a rarer disease may share radiological features of a common disease.

S100A4 expression is associated with lymph node metastasis in papillary microcarcinoma of the thyroid

Min, Hye Sook,Choe, Gheeyoung,Kim, Sung-Won,Park, Young Joo,Park, Do Joon,Youn, Yeo-Kyu,Park, Seong Hoe,Cho, Bo Youn,Park, So Yeon Springer Science and Business Media LLC 2008 Modern pathology Vol.21 No.6

<P>The detection of papillary microcarcinomas of the thyroid is increasing due to frequent use of ultrasound and fine-needle aspiration biopsy. Although most of the papillary microcarcinomas remain quiescent and follow an indolent clinical course, some behave aggressively and metastasize early, giving rise to clinically significant disease. There have been few studies concerning factors predictive of lymph node metastasis in papillary microcarcinomas. We analyzed the expression of S100A4, cyclin D1, p27 and MUC1, the presence of the BRAF V600E mutation and the clinicopathological features of the tumors, including patient age, tumor size (>or=5 vs <5 mm), extrathyroidal extension, multifocality, histological subtype, sclerosis and encapsulation, in a series of 198 papillary microcarcinomas in relation to lymph node metastasis to determine the predictive factors of lymph node metastasis. On univariate analysis, tumor size of 5 mm or more, extrathyroidal extension, multifocality, sclerosis and the expression of S100A4 and cyclin D1 predicted lymph node metastasis, whereas patient age, expression of p27 and MUC1 and the BRAF V600E mutation did not. Moreover, tumor size 5 mm or more, multifocality and expression of S100A4, especially its strong expression in the invasive fronts, were significantly associated with macrometastasis and lateral node metastasis. On multivariate analysis, multifocality and expression of S100A4 were found to be common independent predictive factors of lymph node metastasis, macrometastases, and lateral node metastasis. In conclusion, S100A4 expression in papillary microcarcinomas may indicate the presence of nodal metastasis. Thus, S100A4 immunohistochemistry may be valuable for predicting metastatic potential in papillary microcarcinomas.</P>

디지털 게임 효과음의 실재감이 사용자 경험과 뇌 반응 특성에 미치는 영향

방영주(Youngju Bang),노기영(Gheeyoung Noh) 한국언론학회 2015 한국언론학보 Vol.59 No.3

전립선특이항원밀도: 전립선비대증의 조직구성과의 상관관계

박문수,최기영,이안기,이상은,김시황 大韓泌尿器科學會 1998 Korean Journal of Urology Vol.39 No.6

Myotonic Dystrophy Mimicking Postpolio Syndrome in a Polio Survivor :

Lim, Jae-Young,Kim, Kyoung-Eun,Choe, Gheeyoung Ovid Technologies (Wolters Kluwer) - Lippincott Wi 2009 AMERICAN JOURNAL OF PHYSICAL MEDICINE & REHABILITA Vol.88 No.2

<P>We describe a 38-yr-old polio survivor with newly developed weakness from myotonic dystrophy. He suffered muscle atrophy and weakness in his legs as a result of poliomyelitis at the age of 3 yrs. After a stable interval of about 30 yrs, he felt new weakness and fatigue in his legs. Electromyography revealed generalized myotonic discharges, early recruitment, and findings of chronic denervation in his left leg. Genetic testing was consistent with myotonic dystrophy type 1. A biopsy from the right gastrocnemius revealed findings of both myotonic dystrophy and chronic denervation. This case report shows the importance of considering other uncommon conditions in the differential diagnoses of postpolio syndrome.</P>

Extraskeletal Intraspinal Mesenchymal Chondrosarcoma; 18F-FDG PET/CT Finding

Lee, EunSeong,Lee, Ho Young,Choe, Gheeyoung,Kim, Ki-Jeong,Lee, Won Woo,Kim, Sang Eun by Lippincott Williams Wilkins 2014 Clinical nuclear medicine Vol.39 No.1

ABSTRACT: Mesenchymal chondrosarcoma is a rare and aggressive form of chondrosarcoma. The extraskeletal intraspinal type is even rare among the mesenchymal chondrosarcoma cases. We presented a case of a 17-year-old boy pathologically diagnosed with intraspinal mesenchymal chondrosarcoma. MRI showed multiple intradural extramedullary masses with contrast enhancement, without the evidence of brain lesion. On F-FDG PET/CT, hypermetabolism was observed in the lesions matched with enhancement on spine MRI. The lesions were well differentiated from spinal cord. In the case of hypermetabolic lesion in intradural and extramedullary lesion of the spinal cord, mesenchymal chondrosarcoma should be considered for the differential diagnosis.

Diffuse Leptomeningeal Glioneuronal Tumor with FGFR1 Mutation in a 29-Year-Old Male

Minsu Kim,Ki Rim Lee,Gheeyoung Choe,Kihwan Hwang,Jae Hyoung Kim 대한영상의학회 2023 대한영상의학회지 Vol.84 No.4

This study reports on diffuse leptomeningeal glioneuronal tumor (DL-GNT) in a 29- year-old male. DLGNT is a rare central nervous system (CNS) tumor mostly seen in children and only few cases have been reported in adult patients. Our patient presented with a chronic headache that lasted for five months. MR imaging showed mild hydrocephalus, multiple rim-enhancing nodular lesions in the suprasellar cistern, diffuse leptomeningeal enhancement in the lumbosacral area, and multiple small non-enhancing cyst-appearing lesions not suppressed on fluid attenuated inversion recovery (FLAIR) images in the bilateral basal ganglia, thalami, and cerebral hemispheres. Under the impression of germ cell tumor with leptomeningeal seeding, the patient underwent trans-sphenoidal tumor removal. DL-GNT was pathologically confirmed and FGFR1 mutation was detected through a next-generation sequencing test. In conclusion, a combination of leptomeningeal enhancement and multiple parenchymal non-enhancing cyst-appearing lesions not suppressed on FLAIR images may be helpful for differential diagnosis despite overlapping imaging features with many other CNS diseases that have leptomeningeal enhancement.

Fine Needle Aspiration Cytology of Hematolymphoid Malignancy

Gong, Gyeongyeob,Chung, Jaegul,Choe, Gheeyoung,Yu, Eunsil,Lee, Inchul 울산대학교 의과대학 1992 울산의대학술지 Vol.1 No.1

과거 수 십년간 세침흡인 세포검사는 상피성 종양을 진단하는데 유용한 방법으로 이용되어 왔으나, 혈림프계 악성종양에 있어서는 그 유용성에 대한 의문이 제기되어 왔다. 그러나 최근 수년간, 세포학적 검색뿐만 아니라 면역세포학적 염색을 통해 혈림프계 악성종양을 진단하고 세분화하는 것이 가능하다는 보고들이 늘고 있다. 국내에서는 세침흡인 세포검사를 통해 혈림프계 악성종양을 진단하는 보고가 활발하지 않고, 면역세포학적 실제 진단에 이용하고 있는 기관은 아직 없는 것 같다. 저자들은 1992년 5유 부터 10월까지 6개월간 본원 해부병리과에 의뢰된 환자에서 행한 세침흡인 세포검사중 9예의 림프증식성 질환을 경험하였는데 그 중 6예가 비Hodgkin 림프종양, 1예가 Hodgkin 림프종양, 1예가 다발성 골수종 그리고 1예는 급성 림프모구성 백혈병이었다. 악성림프종양중 2예는 세포면역학적 염색을 통해 세포형에 대한 분류까지 가능하였다. 따라서 혈림프계 악성종양에서도 세침흡인 검사물로 세포학적 진단이 가능할 뿐 아나라, 면역세포화학 염색을 이용하면 이들 혈림프계 악성종양의 진단이 더욱 정확해 질 뿐 아니라 진단의 세분류가 가능하다고 사료된다.