14-bp Insertion/Deletion Polymorphism of the HLA-G Gene in Osteosarcoma Patients

문아림,김수강,정주호,나기용,Liliana G. Olvi,Eduardo Santini-Araujo,김윤화,박용구 대한병리학회 2011 Journal of Pathology and Translational Medicine Vol.45 No.5

Background: The major histocompatibility complex class I, G (human leukocyte antigen-G [HLA-G]) gene plays a vital role in the suppression of immune responses. Recently, a number of studies have reported an association between HLA-G and diseases (pregnancy complications, organ transplantation, and tumors). Some of the studies have revealed that the 14-bp insertion/deletion polymorphism might be associated with various diseases. The aim of the present study was to explore a possible influence of the 14-bp insertion/deletion polymorphism on osteosarcoma. Methods: Genomic DNA was extracted from 75 formalin-fixed, paraffin-embedded tumor tissues derived from patients with conventional osteosarcoma (OSA) and 183 peripheral blood samples of healthy controls. Fifty-eight cases were South Korean patients with OSA and 17 cases were Argentine patients with OSA. The HLA-G 14-bp insertion/deletion polymorphism at exon 8 of the HLA-G locus was analyzed by polymerase chain reaction. Results: There was a significantly different distribution profile for the 14-bp genotypes between the Korean OSA and Korean control groups. Specifically, there were more heterozygote 210 bp/224 bp genotypes in the Korean OSA group when compared to the Korean control group (62.1% vs 40.4%, p=0.002). Conclusions: The results suggest that HLA-G heterozygote patients may be more susceptible to OSA in the Korean population.

Loss of Nuclear BAP1 Expression Is Associated with High WHO/ISUP Grade in Clear Cell Renal Cell Carcinoma

위영찬,문아림,정민정,김예슬,방성식,장기석,백승삼,신수진 대한병리학회 2018 Journal of Pathology and Translational Medicine Vol.52 No.6

Background: BRCA1-associated protein 1 (BAP1) mutations are frequently reported in clear cell renal cell carcinoma (ccRCC); however, very few studies have evaluated the role of these mutations in other renal cell carcinoma (RCC) subtypes. Therefore, we analyzed BAP1 protein expression using immunohistochemistry in several RCC subtypes and assessed its relationship with clinicopathological characteristics of patients. Methods: BAP1 expression was immunohistochemically evaluated in tissue microarray blocks constructed from 371 samples of RCC collected from two medical institutions. BAP1 expression was evaluated based on the extent of nuclear staining in tumor cells, and no expression or expression in < 10% of tumor cells was defined as negative. Results: Loss of BAP1 expression was observed in ccRCC (56/300, 18.7%), chromophobe RCC (6/26, 23.1%), and clear cell papillary RCC (1/4, 25%), while we failed to detect BAP1 expression loss in papillary RCC, acquired cystic disease-associated RCC, or collecting duct carcinoma. In ccRCC, loss of BAP1 expression was significantly associated with high World Health Organization (WHO)/International Society of Urological Pathology (ISUP) grade (p = .002); however, no significant correlation was observed between loss of BAP1 expression and survival in ccRCC. Loss of BAP1 expression showed no association with prognostic factors in chromophobe RCC. Conclusions: Loss of BAP1 nuclear expression was observed in both ccRCC and chromophobe RCC. In addition, BAP1 expression loss was associated with poor prognostic factors such as high WHO/ISUP grade in ccRCC.

Minimal change disease is associated with mitochondrial injury and activation of the STING Pathway

이라경,문아림,이경호,오영승,박무용,최수정,황승덕,김진국,유병철 대한내과학회 2021 대한내과학회 추계학술대회 Vol.2021 No.1

자발성 기흉으로 발현된 제 1형 신경섬유종증: 증례 보고

신소연,이영경,문아림,성동욱 대한영상의학회 2010 대한영상의학회지 Vol.63 No.4

Neurofibromatosis type I is an autosomal dominant disease with variable clinical manifestations related to dermatologic, neurologic, skeletal, and endocrine system. Lung parenchymal involvement such as lung fibrosis and massive bullous emphysema is infrequent. Here, we report on a 36-year-old man with symptoms of dyspnea, and who has a spontaneous pneumothorax, multiple bullae, and pathologically confirmed neurofibromatosis type I. 제1형 신경섬유종증(Neurofibromatosis type I)은 피부, 신경계, 골격계, 내분비계에 다양한 임상증상을 나타내는 유전질환이다. 또한 드물게 제1형 신경섬유종증은 폐 섬유화와 얇은 벽을 갖는 낭포 등의 폐 병변을 유발할 수 있는 것으로 알려져 있다. 저자들은 호흡곤란으로 내원한 36세 남자에서 시행한 흉부 전산화단층촬영(CT)에서 기흉과 양쪽 폐에 존재하는 다발성 낭포들을 발견하였고 신체 검사상 발견된 피부 병변에 대하여 조직 검사를 실시하여 제1형 신경섬유종증을 확진된 1예를 경험하였고, 이를 보고하고자 한다.

Cerebellar Clear Cell Ependymoma in a 10-Year-Old Girl

Aye Nyein Thinzar,박지상,문아림,황선철,홍현숙,이아름,장기현,김희경,진수지 대한영상의학회 2016 대한영상의학회지 Vol.74 No.1

Clear cell ependymoma (CCE) is a histological rare variant (1–5%) of ependymoma, which is distinguished from other histological subtypes by the presence of fusiform cells arrayed radially around small blood vessels. These alleged perivascular pseudorosettes are significant characteristic features of ependymomas. About 95% of infratentorial ependymomas are found in the fourth ventricle and the remainder occurs as cerebellopontine angle lesions. In previous reports, the cerebellum is found to be a rare location for ependymoma. In this study we report one case of CCE originating from the cerebellar hemisphere, showing unusual morphology on 3T MRI.

Chordoid Glioma Originating in the Intrasellar and Suprasellar Regions: Case Report

황지선,이아름,장기현,문아림,황선철,홍현숙 대한자기공명의과학회 2015 Investigative Magnetic Resonance Imaging Vol.19 No.2

Chordoid glioma is a rare, low-grade brain neoplasm typically located in the thirdventricle. Herein, we report an unusual case of histologically confirmed chordoidglioma located in the pituitary fossa and suprasellar region, not attached to thethird ventricle. A 57-year-old woman presented with a 2-month history of headacheand visual disturbance. Magnetic resonance imaging revealed an ovoid mass inthe pituitary fossa and suprasellar region, compressing the optic chiasm withoutinvolvement of the third ventricle. The tumor showed low signal intensity on T1-weighted images and iso- to high signal intensity on T2-weighted images, with strongand homogenous contrast enhancement. Subtotal resection was performed via thetranscranial approach, and the patient subsequently received adjuvant gamma kniferadiosurgery. However, the residual mass showed disease progression 5 months afterthe initial surgery.

Two Cases of Delayed Bullous Local Reactions to the ChAdOx1 Adenovirus Vector Vaccine against SARS-CoV-2

홍은지,윤희정,김탁,문아림,이설희,박영립 대한피부과학회 2023 Annals of Dermatology Vol.35 No.-

Upper Eyelid Pseudocyst Related to Forehead Filler Migration: A Rare Complication of an Illegal Filler Injection

이다운,박은수,이왕석,탁민성,문아림 대한미용성형외과학회 2017 Archives of Aesthetic Plastic Surgery Vol.23 No.2

We report a very rare case of unilateral blepharoptosis and swelling as an unusual complication of a filler injection. The patient received a filler injection into the forehead 4 years previously by an unlicensed practitioner. In the operation, an encapsulated yellowish cyst with inflammation was found to be adhered to the orbital septum and was excised. To prevent additional inferior migration of the remaining foreign body in the forehead, the retro-orbicularis fascia and preaponeurotic fat pad area were sutured, with the exception of the levator aponeurosis. This cyst-like mass was histopathologically proven to be a multiple pseudocyst. After excision, the swelling disappeared and the ptotic eyelid also improved. The galea is connected with the posterior orbicularis fascia. The galea and posterior orbicularis fascia layer can function as a pathway through which the injected material can migrate from the forehead to the upper eyelid. Weakening of the orbicularis retaining ligament and leakage of the foreign body through the supraorbital foramen may also cause filler migration. This case underscores the need for clinicians to be aware of the potential migration of filler even many years after an injection. We advise that filler injections should be performed by trained physicians and that it should be made known that migration is possible.

Malignant rhabdoid tumor of the kidney in an adult with loss of INI1 expression and mutation in the SMARCB1 gene

한은경,김지윤,정민정,진수지,이상욱,문아림 대한병리학회 2021 Journal of Pathology and Translational Medicine Vol.55 No.2

A 57-year-old man with left flank pain was referred to our institute. Computed tomography scans revealed two enhancing masses in the left kidney. The clinical diagnosis was renal cell carcinoma (RCC). He underwent a radical nephrectomy with an adrenalectomy. Two well-circumscribed solid masses in the hilum and the lower pole (4.5 × 3.5 cm and 7.0 × 4.1 cm) were present. Poorly cohesive uniform round to polygonal epithelioid cells making solid sheets accounted for most of the tumor area. The initial diagnosis was RCC, undifferentiated with rhabdoid features. As the tumor showed loss of INI1 expression and a mutation in the SMARCB1 gene on chromosome 22, the revised diagnosis was a malignant rhabdoid tumor (MRT) of the kidney. To date, only a few cases of renal MRT in adults have been reported. To the best of our knowledge, this is the first report of MRT in the native kidney of an adult demonstrating a SMARCB1 gene mutation, a hallmark of MRT.

점액성 세관 방추세포 신장암종의 영상소견: 1예 보고

이지숙,이범하,이혜경,이민희,이광우,문아림 대한영상의학회 2013 대한영상의학회지 Vol.69 No.6

Mucinous tubular and spindle cell carcinoma of the kidney has been recognized as a distinct entity in the 2004 World Health Organization classification of adult renal tumors; it constitutes less than 1% of all the renal neoplasm. Radiological features of mucinous tubular and spindle cell carcinoma have been published in a small number of cases. This case report presents a case of mucinous tubular and spindle cell carcinoma, including CT and MR finding. 점액성 세관 방추세포 신장암종은 최근 세계 보건 기구(World Health Organization) 2004년 신세포암 분류에 포함된 질병으로 세관 구조, 방추형 세포, 점액성 기질로 구성되어 있다. 이는 신장암종의 1% 미만을 차지하는 드문 질병으로 아직 영상소견이 확립되지 않았으며 적은 수의 보고가 있다. 본 증례는 점액성 세관 방추세포 신장암종 1예의 CT 및 MR 소견을 보고하고자 한다.