• Journal of the Korean Society of Radiology
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• v.17 no.5
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• pp.743-749
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• 2023

Breast ductal carcinoma in situ(DCIS) refers to cases in which breast epithelial cells have become malignant but are still limited to normal ducts, and has been increasing rapidly in recent years. In this case, a two-year follow-up revealed findings on mammography and ultrasonography that indicated a small mass classified as BI-RADS Category 3, However far from typical malignant tumor these findings were. In the second year of follow-up, a hypoechoic mass with an indistinct boundary of the right breast in the 6 o'clock direction, on mammography appeared to be about 2.1×1.3 cm in size, and biopsy diagnosed it as ductal carcinoma. Since ductal endothelial cancer has no characteristic clinical findings and can show positive clinical and imaging findings in the early stages, regular follow-up is considered important for early diagnosis, and detection of ductal endothelial cancer through mammography and ultrasound is important for improving the prognosis of all breast cancer patients. During the initial examination conducted four years ago, we reported cases of intra ductal cancer in which asymmetric shading, microcalcification, and branched mass, indicative of intra ductal cancer, were observed during follow-up. It is advisable to concurrently explore methods for reducing X-ray dosage to mitigate potential side effects of contrast medium.

• Biomedical Science Letters
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• v.11 no.1
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• pp.51-56
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• 2005

The detection of high-risk human papilloma virus (HPV) allows us to predict the presence and future development of cervical intraepitheliallesion. In this study, we compared Hybrid Capture II and DNA chip methods for detection of HPV in cervical swab samples. And we evaluated the clinical efficacy and diagnostic performance of HPV DNA chip and Hybrid Capture II for detecting HPV in cervical neoplastic lesions. Seventy four patients were classified into three groups according to their histologic diagnosis: Group I (nonspecific chronic cervicitis), Group II (low-grade squamous intraepithelial lesion (SIL); koilocytosis, and mild dysplasia), and Group III (high-grade SIL;, moderate, severe dysplasia and in situ carcinoma). Cytologic diagnosis were based on the Bethesda System. Hybrid Capture II and DNA chip methods were performed to detect HPV. In 41 of the 74 cervical samples $(55.4\%)$, HPV DNAs were detected by Hybrid Capture II. In Group III, HPV-positive cases were detected in 15 $(20.3\%)$ of 74 patients by Hybrid Capture II. 25 patients with ASCUS cytology were histopathologically examined: 9 cases $(36\%)$ were Group II. In 18 patients with low-grade SIL cytology, 13 cases $(72.2\%)$ were Group II and 3 cases $(16.7\%)$ were Group III. 12 cases $(92.3\%)$ were Group ill of 13 patients with high-grade SIL cytology. The sensitivity of each test was $82\%$ in Hybrid Capture II and $53.9\%$ in DNA chip test. And the specificity was $74.3\%,\;85.7\%$ in Hybrid Capture II and DNA chip. In conclusion, Hybrid Capture II test is more sensitive than DNA chip in detecting women with cervical neoplastic lesions. Especially, in diagnosing of ASCUS, Hybrid Capture II test is more sensitive. Therefore, Hybrid Capture II test for cancer-associated HPV DNA is a viable option in the management of women with ASCUS.

• Asian Pacific Journal of Cancer Prevention
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• v.17 no.5
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• pp.2593-2596
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• 2016

Background: Male breast cancer (MBC) is a rare disease that accounts for less than 1% of all cancers in men and less than 1% of all diagnosed breast cancers. In this study, we retrospectively evaluated the clinicopathological features, treatment options and overall survival in Kurdish MBC cases. Materials and Methods: Seventeen MBC were referred to Department of Radiation Oncology in Imam Reza Hospital, Kermanshah, Iran, between 2010 and 2016. Immunohistochemical analysis was performed for ER, PR and Her2 biomarkers and FISH for those with Her2 2+. Median follow-up period was 30 months (2-65 months). We excluded from the study patients who did not have follow-up after initial diagnosis. Treatment methods were chemotherapy, radiotherapy, hormonal therapy, target therapy and palliative care. Survival was estimated by the Kaplan Meier method (Prism 5). Results: The mean age at diagnosis was $49.24{\pm}17$ years (range, 24-85 years). Grade II was the most grade in MBC (65%). Fourteen patients (82%) had invasive ductal carcinoma, one (6%) had ductal carcinoma in situ and 2 (12%) had invasive papillary. ER, PR and Her2 were significantly positive in 14/17, 8/17 and 2/17 cases, respectively. The treatment included modified radical mastectomy for most patients. Chemotherapy with TAC and CEF regimens was delivered to 15/17 cases. Tamoxifen therapy was delivered to 14/17 cases. Three stage IV patients received Avestin and two with Her2 3+ were given Trastuzumab (Herceptin). Patients received adjuvant radiotherapy following surgery and chemotherapy. The site of metastasis was the bone in 2 cases, lung in 1 case and liver in 1 case. Zoledronic acid (Zometa) was prescribed for patients with bone metastasis. Five-year overall survival rate was 64%. Conclusions: MBC is rare. Thus, we need larger studies are in collaboration with several research centers in the field of breast cancer. ER positive, grade II of invasive ductal carcinoma, stage II and right side happened more with MBC. Overall survival is similar to other studies.

• Asian Pacific Journal of Cancer Prevention
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• v.16 no.16
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• pp.7219-7229
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• 2015

Background: Chromosomal aberrations identified in acute lymphoblastic leukemia (ALL) have an important role in disease diagnosis, prognosis and management. Information on karyotype and associated clinical parameters are essential to physicians for planning cancer control interventions in different geographical regions. Materials and Methods: In this study, we present the overall frequency and distribution patterns of chromosomal aberrations in both children and adult de novo B lineage ALL Indian patients using conventional cytogenetics, interphase FISH and multiplex RT-PCR. Results: Among the 215 subjects, cytogenetic results were achieved in 172 (80%) patients; normal karyotype represented 37.2% and abnormal 62.8% with a distribution as follows: 15.3% hypodiploidy; 10.3% hyperdiploidy; 15.8% t(9;22); 9.8% t(1;19); 3.7% t(12;21); 2.8% t(4;11); 2.8% complex karyotypes. Apart from these, we observed several novel, rare and common chromosomal rearrangements. Also, FISH studies using LSI extra-signal dual-color probes revealed additional structural or numerical changes. Conclusions: These results demonstrate cytogenetic heterogeneity of ALL and confirm that the incidence of chromosomal abnormalities varies considerably. To the best of our knowledge, this is one of the largest reported series of cytogenetic investigations in Indian B-lineage ALL cases. In addition, ongoing cytogenetic studies are warranted in larger groups of B-lineage ALL cases to identify newly acquired chromosomal abnormalities that may contribute to disease diagnosis and management.

• Journal of Genetic Medicine
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• v.14 no.2
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• pp.62-66
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• 2017

Interchromosomal insertion of Y chromosome heterochromatin in an autosome was identified in a fetus and a family. A fetal karyotype was analyzed as 46,XX,dup(7)(?q22q21.1) in a referred amniocentesis at 16 weeks of gestation for advanced maternal age. In the familial karyotype analyses for identification of der(7), the mother, the first daughter and the maternal grandmother showed the same der(7) as the fetus's. CBG-banding was positive at 7q22 region of der(7) that indicated inserted material was originated from heterochromatin. The origin of heterochromatic insertion region in der(7) of the fetus and the mother was found in Yq12 region by fluorescent in situ hybridization with a DYZ1 probe. In the specific analysis of Y chromosomal heterochromatic region of ins(7;Y) of the mother, 15 sequence tagged sites from Yp11.3 region including SRY to Yq11.223 region was not detected. Final karyotypes of the mother, the first daughter and the maternal grandmother were reported as 46,XX,der(7)ins(7;Y)(q21.3;q12q12). All female carriers of ins(7;Y) in the family showed normal phenotype and the mother and the maternal grandmother were fertile. A healthy girl was born at term. We report a rare case of familial interchromosomal insertion of Y chromosome heterochromatin detected only in female family members with normal phenotype that was diagnosed prenatally.

• Korean Journal of Bronchoesophagology
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• v.17 no.1
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• pp.5-8
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• 2011

The proliferation of new technologies has significantly enhanced the diagnostic capabilities of flexible bronchoscopy compared with traditional methods. Narrow band imaging (NBI), an optical technique in which filtered light enhances superficial neoplasms based on their neoangiogenic patterns, was developed to screen for central intraepithelial moderate or severe dysplasia, carcinoma in situ (CIS), and microinvasive neoplasia in patients at risk for lung cancer. Because angiogenesis occurs preferentially in dysplastic and neoplastic lesions, NBI may identify early dysplastic lesions better than white light bronchoscopy (WLB) currently in use. NBI bronchoscopy can be used not only to detect precancerous lesions, but also to screen for cancerous lesions. We prospectively evaluated 101 patients with suspected lung cancer between July 2009 and June 2010. All were previously scheduled for flexible bronchoscopy CT scans. Abnormal NBI was defined by Shibuya's descriptors (tortuous, dotted, or spiral and screw patterns). Biopsies of 132 lesions in 92 patients showed that 78 lesions (59.1%) were malignant and 54 (40.9%) were benign. The diagnostic sensitivity of bronchoscopy in detecting malignancy was 96.2% (75/78). When assorted by lesion pattern, the sensitivity and specificity of NBI bronchoscopy in detecting malignancies were 69.2% (54/78) and 96.3% (52/54), respectively, for the spiral and screw pattern and 14.1% (11/78) and 96.3% (52/54), respectively, for the dotted pattern. Unexpectedly, additional cancerous lesions were detected in five patients (2 dotted and 3 spiral and screw). As a screening tool for malignant lesions, NBI bronchoscopy should assess combinations of all three lesion. The dotted and spiral and screw patterns may be helpful in determining which lesions should be biopsied. NBI bronchoscopy may be useful not only for the diagnosis of early-stage lung cancer but also for more accurate local staging of lung cancer.

• BLOOD RESEARCH
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• v.53 no.4
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• pp.276-280
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• 2018

Background Chronic lymphocytic leukemia (CLL) exhibits profound heterogeneity in its clinical course. Its clinicohematological and cytogenetic features play a significant role in determining the clinical course and in predicting the treatment response and prognosis. In this context, 17p deletion is known to predict a poor prognosis, as these cases are refractory to conventional therapy. This study aimed to evaluate the clinicohematological characteristics, outcomes, and prognostic factors among CLL patients with and without del 17p in Pakistan. Methods This prospective observational study was conducted at the Department of Haematology, Armed Forces Institute of Pathology (Rawalpindi, Pakistan) between January 2013 and December 2017. Patients were diagnosed based on the International Workshop on Chronic Lymphocytic Leukaemia IWCLL criteria, their clinicohematological parameters were recorded, and cytogenetic analyses were performed. The time from diagnosis to treatment and the 2-year overall survival rate were also evaluated. Results We evaluated 130 CLL cases, including 24 patients (18.5%) with del 17p, who included 18 men (75%) and 6 women (25%). The median age was 68 years. Binet stage C was detected at the presentation in 16 patients (67%). Treatment was administered to 14 patients (70%) at a median interval of 11 months (range, 0-28 mo) after diagnosis. The overall response rate was 64.3%, the median event-free survival was 9 months (range, 1-23 mo), and the 2-year overall survival rate was 65%. Conclusion Del 17p is relatively common in Pakistan, and patients harboring this deletion had poor treatment response and survival outcomes.

• Journal of the Korean Society for Nondestructive Testing
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• v.28 no.4
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• pp.315-322
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• 2008

Valves in power plants are leaking internally by various damages including insertion of foreign objects on seat, seat crack, defects and fatigue crack of stem packing or welds etc. due to severe operating conditions such as high temperature and high pressure for extended period time. Acoustic emission(AE) technology should be applied in order to diagnose precisely and evaluate these valve internal leak. In this paper, results of studies which have accomplished in actual power plant are presented. We have analyzed background noise, AE signal level and frequency spectrum through laboratory tests on the basis of various actual conditions in power plant, and also have considered evaluation methods on the background noise, AE properties and the detectable minimum leak rate according to valve leak conditions through comparing with results of field tests in power plant. As a result of these studies, we conformed that evaluation of internal leak conditions including discrimination of leak or not, and the detectable minimum leak rate is possible, and also it is expected to contribute to safe operation and prevention of energy loss in power plants.

• Journal of Genetic Medicine
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• v.15 no.2
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• pp.64-71
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• 2018

Purpose: Overgrowth syndromes are conditions that involve generalized or localized areas of excess growth. In this study, the clinical, molecular, and genetic characteristics of Korean patients with overgrowth syndrome were analyzed. Materials and Methods: We recruited 13 patients who presented with overgrowth syndrome. All patients fulfilled inclusion criteria of overgrowth syndrome. Analysis of the clinical and molecular investigations of patients with overgrowth syndrome was performed retrospectively. Results: Among the 13 patients with overgrowth syndrome, 9 patients (69.2%) were found to have molecular and genetic causes. Among the seven patients with Sotos syndrome (SS), two had a 5q35microdeletion that was confirmed by fluorescent in situ hybridization. In two patients with SS, intragenic mutations including a novel mutation, c.5993T>A (p.M1998L), were found by Sanger sequencing. One patient had one copy deletion of NDS1 gene which was confirmed by multiplex ligation-dependent probe amplification. Among five patients with Beckwith-Wiedemann syndrome, three had aberrant imprinting control regions; 2 hypermethylation of the differentially methylated region of H19, 1 hypomethylation of the differentially methylated region of Kv. In one patient displaying overlapping clinical features of SS, a de novo heterozygous deletion in the chromosomal region 7q22.1-22.3 was found by single nucleotide polymorphism-based microarray. Conclusion: Considering high detection rate of molecular and genetic abnormalities in this study, rigorous investigations of overgrowth syndrome may be an important tool for the early diagnosis and genetic counseling. A detailed molecular analysis of the rearranged regions may supply the clues for the identification of genes involved in growth regulation.

• Clinical and Experimental Reproductive Medicine
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• v.31 no.1
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• pp.29-39
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• 2004

Objectives: This study was performed to evaluate the laboratory system for successful PGD using fluorescence in situ hybridization (FISH) and the clinical outcome of PGD cycles in five years experiences. Methods: A total of 181 PGD-FISH cycles of 106 couples were performed, and diagnosed chromosome normality in the preimplantation embryos. The laboratory and clinical data were classified by the following optimization steps, and statistically analyzed. Phase I: Blastomere biopsy with two kinds of pipettes, removal of cytoplasmic proteins without treatment of pepsin and culture of biopsied embryos with single medium; Phase II: Blatomere biopsy with single pipette, removal of cytoplasmic proteins with pepsin and culture of biopsied embryos with single medium; Phase III: Blastomere biopsy with single pipette, removal of cytoplasmic proteins with pepsin and culture of biopsied embryos with sequential media. Results: A total of 3, 209 oocytes were collected, and 83.8% (2, 212/2, 640) of fertilization rate was obtained by ICSI procedure. The successful blastomere biopsies were accomplished in 98.6% (2, 043/2, 071) of embryos, and the successful diagnosis rate of FISH was 94.7% (1, 935/ 2, 043) of blastomeres from overall data. Embryo transfers with normal embryos were conducted in 93.9% (170/181) of started cycles. There was no difference in the successful rate of biopsy and diagnosis among Phase I, II and III. However, the pregnancy rate per embryo transfer of Phase III (38.8%, 26/67) was significantly (p<0.05) higher than those of Phase I (13.9%, 5/36) and Phase II (14.9%, 10/67). Conclusions: The laboratory optimization and experience for the PGD with FISH procedure can increase the pregnancy rate to 38.8% in the human IVF-ET program. Our facility of PGD with FISH provides the great possibility to get a normal pregnancy for the concerned couples by chromosomal aberrations.