1.An Infant with Prenatally Diagnosed Congenital Anaplastic Astrocytoma Who Remains Disease-Free after Proton Therapy.
Hyun Jung SHIN ; Young Joo KWON ; Hyeon Jin PARK ; Byung Kiu PARK ; Sang Hoon SHIN ; Joo Young KIM ; Sang Hyun LEE ; Heung Sik KIM ; Dong Won KIM
Journal of Korean Medical Science 2013;28(9):1394-1398
The authors present a rare of prenatally diagnosed congenital anaplastic astrocytoma. A 9-month-old boy had three recurrences despite two surgical resections and various chemotherapeutic regimens. He underwent the 3rd gross tumor removal at 11 months of age, followed by proton therapy, and now he remains disease-free for 3 yr without a significant neurocognitive dysfunction. This is the 1st case of a pediatric tumor treated by proton therapy in Korea, and proton therapy may be a treatment of choice for a congenital anaplastic astrocytoma in infants and young children, considering limitation of radiation therapy.
Astrocytoma/*diagnosis/radiotherapy/surgery
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Brain Neoplasms/*diagnosis/radiotherapy/surgery
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Disease-Free Survival
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Humans
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Infant
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Magnetic Resonance Imaging
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Male
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Prenatal Diagnosis
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Proton Therapy
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Tomography, X-Ray Computed
2.Diagnosis and radiotherapy of germinomas arising in basal ganglia and thalamus.
Ya-ming WANG ; Zeng-min TIAN ; Xin YU ; Yong-ge XU ; Hong-wei WANG ; Jun-zhao SUN ; Zhi-chao LI
Chinese Journal of Surgery 2007;45(14):979-981
OBJECTIVETo summarize the clinical characteristic and radiotherapeutic effect of germinomas arising in basal ganglia and thalamus.
METHODSThe clinical data of 13 cases were reviewed retrospectively. All cases were pathologic diagnosis through stereotactic biopsy. Gamma-knife or ordinary irradiation were 2 cases respectively and the combined therapy with interstitial brachytherapy as foundation were 9 cases.
RESULTAll cases were male, median age of 16.1 years. Hemiparesis and ataxia were major symptoms, some cases were accompanied with precocious puberty. Imaging manifested intratumoral cystic components represented 76.9% of all lesions, calcification represented 30.8%, ipsilateral cerebral and brain stem hemiatrophy represented 46.2%, cerebral white matter invasion through internal capsule or corpus callosum represented 30.8%. One case died because of late complication and 12 cases had achieved satisfied therapeutic effect (the mean followed-up period was 40.6 months). Tumor-control were effective.
CONCLUSIONSThe clinical manifestation and imaging characteristics are helpful to diagnosis. Stereotactic biopsy make the affirmatory diagnosis. Operative total-removal is impossible because of deep location, neighbour of vital structure and invasion. The combined therapy with interstitial brachytherapy was effective.
Adolescent ; Adult ; Basal Ganglia ; Brain Neoplasms ; diagnosis ; radiotherapy ; surgery ; Child ; Follow-Up Studies ; Germinoma ; diagnosis ; radiotherapy ; surgery ; Humans ; Male ; Retrospective Studies ; Thalamus ; Treatment Outcome
3.Erratum: Panton-Valentine Leukocidin Positive Staphylococcus aureus Isolated from Blood in Korea.
Jae Seok KIM ; Jeong Su PARK ; Wonkeun SONG ; Han Sung KIM ; Hyoun Chan CHO ; Kyu Man LEE ; Eui Chong KIM
The Korean Journal of Laboratory Medicine 2008;28(6):498-498
This erratum is being published to correct the printing error on page 286 of the article entitled 'Panton-Valentine leukocidin positive Staphylococcus aureus isolated from blood in Korea' by Kim JS, Park JS, Song W, Kim HS, Cho HC, Lee KM, Kim EC in Korean J Lab Med 2007;27:286-91. DOI 10.3343/kjlm. 2007.27.4.286 as follows. The heading of the right column of the Table 1 was misprinted as methicillin-resistant, so it should be corrected to methicillin-susceptible.
Adult
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Amino Acid Substitution
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Brain Neoplasms/radiotherapy/surgery
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Breast Neoplasms/diagnosis/radiotherapy/surgery
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Female
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*Genetic Counseling
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Genetic Predisposition to Disease
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*Germ-Line Mutation
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Humans
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Li-Fraumeni Syndrome/*diagnosis/genetics/therapy
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Mutation, Missense
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Pedigree
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Tumor Suppressor Protein p53/*genetics
4.Genetic Counseling Can Influence the Course of a Suspected Familial Cancer Syndrome Patient: From a Case of Li-Fraumeni Like Syndrome with a Germline Mutation in the TP53 Gene.
Sang Mee HWANG ; Eun Sook LEE ; Sang Hoon SHIN ; Sun Young KONG
The Korean Journal of Laboratory Medicine 2008;28(6):493-497
We report a 26-yr-old female patient with bilateral breast cancer who was clinically diagnosed with Li-Fraumeni like syndrome (LFL) and subsequently found to have a germline mutation of the TP53 gene. The patient was initially diagnosed with right breast cancer at age 24 yr and then with left breast cancer at age 25 yr. Surgery and radiotherapy were performed accordingly. The patient had a family history of various types of early onset cancers and was referred to a genetic counseling clinic. She was clinically diagnosed with LFL. Genetic analysis of the TP53 tumor suppressor gene was performed with the patient's consent. Direct sequencing of TP53 gene exons 5, 6, 8, 9, and 11 revealed a ermline missense mutation, resulting in an amino acid change from an arginine to a histidine (g.13203G>A, p.R175H). Considering the family history, individualized cancer surveillance was performed including a gastroscopy and a brain MRI. Even though the patient had not shown any neurological symptoms, a huge mass on the temporal lobe was incidentally found and the patient received surgery and radiotherapy. Although the residual mass required further treatment, the patient decided on supportive care alone and was discharged. We report a case of LFL, with a germline TP53 mutation, which was confirmed by gene sequencing in Korea. This case shows how genetic predisposition screening and counseling in patients, suspected of having a familial cancer syndrome, can influence the course of the patient.
Adult
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Amino Acid Substitution
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Brain Neoplasms/radiotherapy/surgery
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Breast Neoplasms/diagnosis/radiotherapy/surgery
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Female
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*Genetic Counseling
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Genetic Predisposition to Disease
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*Germ-Line Mutation
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Humans
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Li-Fraumeni Syndrome/*diagnosis/genetics/therapy
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Mutation, Missense
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Pedigree
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Tumor Suppressor Protein p53/*genetics
5.Clinicopathologic features of delayed radiation-induced brain injury after radiotherapy for brain tumor.
Xing-fu WANG ; Sheng ZHANG ; Yu-hong YE ; Yu-peng CHEN ; Xue-yong LIU
Chinese Journal of Pathology 2012;41(4):224-228
OBJECTIVETo study the clinicopathologic features of delayed radiation-induced brain injury after radiotherapy for brain tumor.
METHODSThe clinical, histopathologic and immunohistochemical features of 9 cases with delayed radiation-induced injury were evaluated.
RESULTSThe disease occurred from 6 months to 12 years after radiotherapy and often presented with headache and muscle weakness. Magnetic resonance imaging showed peripheral enhancing lesions with slight mass effect and surrounding edema. Microscopically, the major changes included coagulative necrosis, fibrinoid necrosis of vessels, vascular hyalinization with luminal stenosis and peripheral reactive gliosis. Immunostaining for hypoxia-inducible factors 1α was positive in reactive astrocytes.
CONCLUSIONSDelayed radiation-induced brain injury is a relatively common complication of radiation therapy. The lesion was frequently misdiagnosed as brain tumor. Correct diagnosis relies on clinical, radiologic and pathologic correlation.
Aged ; Brain Neoplasms ; radiotherapy ; Female ; Glioma ; radiotherapy ; Humans ; Hypoxia-Inducible Factor 1, alpha Subunit ; metabolism ; Magnetic Resonance Imaging ; Male ; Middle Aged ; Radiation Injuries ; diagnosis ; diagnostic imaging ; metabolism ; pathology ; surgery ; Radiotherapy ; adverse effects ; Tomography, X-Ray Computed
6.Pleomorphic Carcinoma of the Lung with High Serum Beta-human Chorionic Gonadotropin Level and Gynecomastia.
Kerem OKUTUR ; Baris HASBAL ; Kubra AYDIN ; Mustafa BOZKURT ; Esat NAMAL ; Buge OZ ; Kamil KAYNAK ; Gokhan DEMIR
Journal of Korean Medical Science 2010;25(12):1805-1808
Although gynecomastia is a well-defined paraneoplastic syndrome in patients with non-small cell lung cancer, the association with pleomorphic carcinoma has not been reported. A 50-yr-old man presented with bilateral gynecomastia and elevated serum beta-human chorionic gonadotropin (beta hCG) level. Chest tomography showed a mass in the right middle lobe. Right middle lobectomy and mediastinal lymph node dissection were performed. beta hCG levels decreased rapidly after surgery. Histological examination revealed pleomorphic carcinoma with positive immunostaining for beta hCG. Serum beta hCG levels began to increase gradually on postoperatively 4th month. Computed tomography detected recurrence and chemotherapy was started. After second cycle of chemotherapy, beta hCG levels decreased dramatically again and tomography showed regression in mass. Patient died 6 months later due to brain metastasis. beta hCG expression may be associated with aggressive clinical course and increased risk of recurrence, also beta hCG levels may be used to evaluate therapy response in patients with pleomorphic carcinoma.
Brain Neoplasms/radiotherapy/secondary
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Carcinoma, Non-Small-Cell Lung/complications/*diagnosis/pathology
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Chorionic Gonadotropin, beta Subunit, Human/*blood
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Gynecomastia/*etiology
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Humans
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Lung Neoplasms/complications/*diagnosis/pathology
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Lymph Nodes/surgery
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Male
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Middle Aged
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Recurrence
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Risk Factors
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Tomography, X-Ray Computed
7.A Case of Radiation Retinopathy of Left Eye After Radiation Therapy of Right Brain Metastasis.
Kwon Ho HONG ; Sung Dong CHANG
Korean Journal of Ophthalmology 2009;23(2):114-117
A 37-year-old female, who had received modified radical mastectomy for cancer of her right breast, presented with decreased visual acuity in the left eye after radiation therapy for the management of the metastasis to her right brain 14 months ago. After ocular examination, we diagnosed her as radiation retinopathy. At the time of the first visit, the corrected best visual acuity was 0.4 in the left eye, and fundus examination revealed cotton wool spots and cystoid macular edema (CME). The findings in the right eye were normal except for cotton wool spots in the superior major arch. Fluorescein angiography (FA) showed marked telangiectasia and microaneurysms in her left eye but tiny microaneurysms in her right eye. Subsequent optical coherent tomography (OCT) showed CME. We injected intravitreal triamcinolone acetonide (TA). Two weeks after treatment, the visual acuity was improved to 0.6 and the retinal thickness was decreased. Three months later, the visual acuity in the left eye was dropped to 0.3 due to the recurrence of CME, so we injected intravitreal TA again. Five months later, visual acuity was improved to 0.5 and OCT revealed the improvement of CME. The incidence of radiation retinopathy is higher in the side nearer to radiation, but careful radiation blocking is also required on the opposite side of irradiation site considering the possibility of radiation retinopathy and careful observation is required on both sides of the eyes when performing fundus examination.
Adult
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Brain Neoplasms/*radiotherapy/secondary
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Breast Neoplasms/pathology/radiotherapy/surgery
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Diagnosis, Differential
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Female
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Fluorescein Angiography
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Follow-Up Studies
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Fundus Oculi
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Glucocorticoids/administration & dosage
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Humans
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Radiation Injuries/diagnosis/drug therapy/*etiology
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Retina/pathology/*radiation effects
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Retinal Diseases/diagnosis/drug therapy/*etiology
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Tomography, Optical Coherence
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Triamcinolone Acetonide/administration & dosage
8.Clinicopathologic features of papillary tumors of the pineal region.
Jing-yi FANG ; Jun-mei WANG ; Yun CUI ; Jing-jun LI ; Yu-jin SU ; Zhao-xia LIU
Chinese Journal of Pathology 2013;42(3):186-190
OBJECTIVETo study the clinicopathologic features of papillary tumor of the pineal region (PTPR).
METHODThree hundred and eighty six cases of pineal region and posterior third ventricle tumors, two newborn and two adult pineal glands were analyzed by HE, PAS and immunohistochemistry of 16 antibodies (EnVision method).
RESULTSFive cases of PTPR were diagnosed with mixed papillary features and densely cellular areas, and included one recurrent case. In the papillary areas, the vessels were lined by one or several layers of cuboidal/columnar cells; the vessel wall was hyalinized. In the densely cellular areas, sheets or nests of tumor cells were seen. The tumor cells of these five cases were immunoreactive to CK, CK8/18, synaptophysin, MAP2, nestin, S-100, and vimentin. Four cases were immunoreactive to NSE and CgA; and 2 cases were immunoreactive to NF. All five cases were negative for EMA, CK5/6, CEA, and NeuN. Ki-67 labeling index ranged from 1% to 6%.Three patients were alive, and the recurrent one died.
CONCLUSIONSPTPR occurs in patients with over a wide age range, from children to adults, and is more commonly found in male than female. PTPR is composed of both papillary and solid areas, characterized by epithelial cytology, and needs to be differentiated from ependymoma. PTPR may originate from the specialized ependymocytes of the subcommissural organ. The prognostic factors are early diagnosis, complete surgical resection and radiotherapy.
Adolescent ; Adult ; Brain Neoplasms ; diagnostic imaging ; metabolism ; pathology ; radiotherapy ; surgery ; Carcinoma, Papillary ; diagnostic imaging ; metabolism ; pathology ; radiotherapy ; surgery ; Child ; Diagnosis, Differential ; Ependymoma ; metabolism ; pathology ; Female ; Humans ; Immunohistochemistry ; Keratin-18 ; metabolism ; Keratin-8 ; metabolism ; Keratins ; metabolism ; Male ; Microtubule-Associated Proteins ; metabolism ; Nestin ; metabolism ; Pineal Gland ; Pinealoma ; metabolism ; pathology ; S100 Proteins ; metabolism ; Synaptophysin ; metabolism ; Tomography, X-Ray Computed ; Vimentin ; metabolism ; Young Adult