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Molecular biomarker testing is the standard of care for non–small cell lung cancer (NSCLC) patients. In 2017, the Korean Cardiopulmonary Pathology Study Group and the Korean Molecular Pathology Study Group co-published a molecular testing guideline which contained almost all known genetic changes that aid in treatment decisions or predict prognosis in patients with NSCLC. Since then there have been significant changes in targeted therapies as well as molecular testing including newly approved targeted drugs and liquid biopsy. In order to reflect these changes, the Korean Cardiopulmonary Pathology Study Group developed a consensus statement on molecular biomarker testing. This consensus statement was crafted to provide guidance on what genes should be tested, as well as methodology, samples, patient selection, reporting and quality control.
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Molecular biomarker testing is the standard of care for non–small cell lung cancer (NSCLC) patients. In 2017, the Korean Cardiopulmonary Pathology Study Group and the Korean Molecular Pathology Study Group co-published a molecular testing guideline which contained almost all known genetic changes that aid in treatment decisions or predict prognosis in patients with NSCLC. Since then there have been significant changes in targeted therapies as well as molecular testing including newly approved targeted drugs and liquid biopsy. In order to reflect these changes, the Korean Cardiopulmonary Pathology Study Group developed a consensus statement on molecular biomarker testing. This consensus statement was crafted to provide guidance on what genes should be tested, as well as methodology, samples, patient selection, reporting and quality control.
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Solitary fibrous tumors (SFT) are rare mesenchymal tumors that most commonly develop in the pleura; they rarely involve the diaphragm. MRI has not been widely used to evaluate SFTs of the thoracic cavity, though it may be highly useful in assessing local invasion, predicting malignant potential, and helping in the differential diagnosis. However, MRI findings of malignant SFTs of the diaphragmatic pleura have been described in only two cases. We report a rare case of a malignant solitary fibrous tumor of the diaphragmatic pleura in an 82-year-old man. We describe the clinical and characteristic imaging features, including computed tomography, conventional MRI, and diffusion-weighted imaging. Contrast-enhanced MRI is more accurate than is CT in identifying the origin of SFTs, predicting whether they ae benign or malignant, and assessing local invasion. This imaging modality proved helpful in deciding on the treatment strategy for these rare tumors.
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Amyloidosis is a disease in which abnormal proteins called amyloid accumulates in various tissues. In the head and neck area, the larynx is the most common site with the rare involvement of the tongue, causing symptoms of macroglossia. Most of amyloid light-chain (AL) amyloidosis are systemic amyloidosis accompanied with multiple myeloma (MM), where the involvement of tongue can be often observed. We report a case of AL amyloidosis with MM, initially with symptoms of dysarthria and dysphagia without macroglossia, but gradually over the years, macroglossia and high tongue stiffness were observed.
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No abstract available.
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Mama , Ducto Nasolacrimal , Metástase Neoplásica , Tumor FiloideRESUMO
Immunoglobulin A (IgA) pemphigus is a rare variant of an autoimmune bullous disease with IgA antibodies. IgA pemphigus is divided into 2 major subtypes: the subcorneal pustular dermatosis (SPD) type and intraepidermal neutrophilic (IEN) dermatosis type. We documented a case of an 18-year-old woman with recurrent generalized blisters and pustules that were especially severe in the intertriginous areas. Some half-and-half blisters and coalesced pustules in an annular pattern with crusts were simultaneously observed. A biopsy specimen from one of the half-and-half blister lesions showed intraepidermal separation with multiple neutrophils. Direct immunofluorescence staining revealed lace-like intercellular deposition of IgA in the entire epidermis. IgA antibody deposits were also observed in the patient's serum. The eruptions cleared with systemic steroids and colchicine 0.6 mg for 1 week, and the patient remained in partial remission at the 8-month follow-up. Herein, we report a case of IEN-type IgA pemphigus, clinically mimicking SPD with half-and-half blisters.
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Adolescente , Feminino , Humanos , Anticorpos , Biópsia , Vesícula , Colchicina , Epiderme , Técnica Direta de Fluorescência para Anticorpo , Seguimentos , Imunoglobulina A , Imunoglobulinas , Neutrófilos , Pênfigo , Dermatopatias , Dermatopatias Vesiculobolhosas , EsteroidesRESUMO
Liquid biopsy for detection of mutation from circulating tumor DNA is a new technology which is attractive in that it is non-invasive. Epidermal growth factor receptor (EGFR) tyrosine kinase inhibitors (TKI) is an effective first line drug for advanced non-small cell lung cancer patients who harbor activating EGFR mutation. During the course of treatment, resistance against TKI arises which can be contributed to EGFR T790M mutation in about 50–60% of patients. Third generation TKI may overcome the resistance. In patients who cannot undergo tissue biopsy due to variable reasons, liquid biopsy is an excellent alternative for the detection of EGFR T790M mutation. However, this relatively novel method requires standardization and vigorous quality insurance. Thus, a standard set of guideline recommendations for liquid biopsy for EGFR mutation testing suitable for the Korean medical community is necessary. In this article, we propose a set of provisional guideline recommendations that was discussed and approved by the Cardiopulmonary Pathology Study Group of the Korean Society of Pathologists.
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Humanos , Biópsia , Carcinoma Pulmonar de Células não Pequenas , DNA , Genes erbB-1 , Seguro , Neoplasias Pulmonares , Pulmão , Métodos , Patologia , Proteínas Tirosina Quinases , Receptores ErbBRESUMO
Targeted therapies guided by molecular diagnostics have become a standard treatment of lung cancer. Epidermal growth factor receptor (EGFR) mutations and anaplastic lymphoma kinase (ALK) rearrangements are currently used as the best predictive biomarkers for EGFR tyrosine kinase inhibitors and ALK inhibitors, respectively. Besides EGFR and ALK, the list of druggable genetic alterations has been growing, including ROS1 rearrangements, RET rearrangements, and MET alterations. In this situation, pathologists should carefully manage clinical samples for molecular testing and should do their best to quickly and accurately identify patients who will benefit from precision therapeutics. Here, we grouped molecular biomarkers of lung cancers into three categories—mutations, gene rearrangements, and amplifications—and propose expanded guidelines on molecular testing of lung cancers.
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Humanos , Biomarcadores , Rearranjo Gênico , Neoplasias Pulmonares , Pulmão , Linfoma , Patologia Molecular , Fosfotransferases , Medicina de Precisão , Proteínas Tirosina Quinases , Receptores ErbBRESUMO
BACKGROUND: Immunohistochemical demonstration of CD20 in diffuse large B-cell lymphoma (DLBCL) is prerequisite not only for the diagnosis but also for assigning patients to rituximab-containing chemotherapy. However, little is known about the impact of abundance of CD20 expression assessed by immunohistochemistry on the clinical outcome of DLBCL. We performed a semi-quantitative immunohistochemical analysis of CD20 expression in DLBCL to examine the prognostic implication of the level of CD20 expression. METHODS: Pre-treatment diagnostic tissue samples from 48 DLBCL patients who were treated with rituximab, cyclophosphamide, doxorubicin, vincristine, and prednisone (R-CHOP) regimen were represented in a tissue microarray and immunostained for CD20. The relative abundance of CD20 expression was semi-quantitatively scored using a web-based ImmunoMembrane plug-in. Receiver operating characteristic curve analysis was used to determine a prognostically relevant cut-off score in order to dichotomize the patients into CD20-high versus CD20-low groups. RESULTS: The levels of CD20 expression were heterogeneous among the patients, with a wide and linear distribution of scores. Patients in CD20-low group showed significantly poor clinical outcome. CONCLUSIONS: The levels of CD20 expression in DLBCL are heterogeneous among the patients with DLBCL. A subgroup of the patients with CD20 expression levels below the cut-off score showed poor clinical outcome.
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Humanos , Antígenos CD20 , Linfócitos B , Ciclofosfamida , Diagnóstico , Doxorrubicina , Tratamento Farmacológico , Imuno-Histoquímica , Linfoma de Células B , Prednisona , Curva ROC , Análise Serial de Tecidos , Vincristina , RituximabRESUMO
No abstract available.
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Idoso de 80 Anos ou mais , Humanos , Masculino , Amiloidose/complicações , Biópsia , Dacriocistorinostomia/métodos , Aparelho Lacrimal/diagnóstico por imagem , Doenças do Aparelho Lacrimal/diagnóstico , Tomografia Computadorizada por Raios XRESUMO
Background: Immunocytochemistry (ICC) on formalin-fixed paraffin embedded cell blocks is an ancillary tool commonly recruited for differential diagnoses of fine needle aspiration cytology (FNAC) samples. However, the quality of conventional cell blocks in terms of adequate cellularity and evenness of distribution of cytologic material is not always satisfactory for ICC. We introduce a modified agarose-based cytoscrape cell block (CCB) technique that can be effectively used for the preparation of cell blocks from scrapings of conventional FNAC slides. Methods: A decoverslipped FNAC slide was mounted with a small amount of water. The cytological material was scraped off the slide into a tissue mold by scraping with a cell scraper. The cytoscrape material was pelleted by centrifugation and pre-embedded in ultra-low gelling temperature agarose and then re-embedded in conventional agarose. The final agarose gel disk was processed and embedded in paraffin. Results: The quality of the ICC on the CCB sections was identical to that of the immunohistochemical stains on histological sections. By scrapping and harvesting the entirety of the cytological material off the cytology slide into a compact agarose cell button, we could avoid the risk of losing diagnostic material during the CCB preparation. Conclusion: This modified CCB technique enables concentration and focusing of minute material while maintaining the entire amount of the cytoscrape material on the viewing spot of the CCB sections. We believe this technique can be effectively used to improve the level of confidence in diagnosis of FNAC especially when the FNAC slides are the only sample available.
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We report here an ectopic case of Fasciola hepatica infection confirmed by recovery of an adult worm in the mesocolon. A 56-year-old female was admitted to our hospital with discomfort and pain in the left lower quadrant of the abdomen. Abdominal CT showed 3 abscesses in the left upper quadrant, mesentery, and pelvic cavity. On surgical exploration, abscess pockets were found in the mesocolon of the sigmoid colon and transverse colon. A leaf-like worm found in the abscess pocket of the mesocolon of the left colon was diagnosed as an adult fluke of F. hepatica. Histologically, numerous eggs of F. hepatica were noted with acute and chronic granulomatous inflammations in the subserosa and pericolic adipose tissues. Conclusively, a rare case of ectopic fascioliasis has been confirmed in this study by the adult worm recovery of F. hepatica in the mesocolon.
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Animais , Feminino , Humanos , Pessoa de Meia-Idade , Fasciola hepatica/genética , Fasciolíase/diagnóstico , Mesocolo/parasitologiaRESUMO
BACKGROUND: Analysis of mutations in the epidermal growth factor receptor gene (EGFR) is important for predicting response to EGFR tyrosine kinase inhibitors. The overall rate of EGFR mutations in Korean patients is variable. To obtain comprehensive data on the status of EGFR mutations in Korean patients with lung cancer, the Cardiopulmonary Pathology Study Group of the Korean Society of Pathologists initiated a nationwide survey. METHODS: We obtained 1,753 reports on EGFR mutations in patients with lung cancer from 15 hospitals between January and December 2009. We compared EGFR mutations with patient age, sex, history of smoking, histologic diagnosis, specimen type, procurement site, tumor cell dissection, and laboratory status. RESULTS: The overall EGFR mutation rate was 34.3% in patients with non-small cell lung cancer (NSCLC) and 43.3% in patients with adenocarcinoma. EGFR mutation rate was significantly higher in women, never smokers, patients with adenocarcinoma, and patients who had undergone excisional biopsy. EGFR mutation rates did not differ with respect to patient age or procurement site among patients with NSCLC. CONCLUSIONS: EGFR mutation rates and statuses were similar to those in published data from other East Asian countries.
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Feminino , Humanos , Adenocarcinoma , Povo Asiático , Biópsia , Carcinoma Pulmonar de Células não Pequenas , Diagnóstico , Fator de Crescimento Epidérmico , Neoplasias Pulmonares , Taxa de Mutação , Patologia , Proteínas Tirosina Quinases , Receptores ErbB , Fumaça , FumarRESUMO
BACKGROUND: Inevitable loss of diagnostic material should be minimized during cell block preparation. We introduce a modified agarose cell block technique that enables the synthesis of compact cell blocks by using the entirety of a cell pellet without the loss of diagnostic material during cell block preparations. The feasibility of this technique is illustrated by high-throughput immunocytochemistry using high-density cell block microarray (CMA). METHODS: The cell pellets of Sure- Path residues were pre-embedded in ultra-low gelling temperature agarose gel and re-embedded in standard agarose gel. They were fixed, processed, and embedded in paraffin using the same method as tissue sample processing. The resulting agarose cell blocks were trimmed and represented on a CMA for high-throughput analysis using immunocytochemical staining. RESULTS: The SurePath residues were effectively and entirely incorporated into compact agarose cell buttons and embedded in paraffin. Sections of the agarose cell blocks revealed cellularities that correlated well with corresponding SurePath smears and had immunocytochemical features that were sufficient for diagnosis of difficult cases. CONCLUSIONS: This agarose-based compact cell block technique enables preparation of high-quality cell blocks by using up the residual SurePath samples without loss of diagnostic material during cell block preparation.
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Biópsia por Agulha Fina , Diagnóstico , Imuno-Histoquímica , Parafina , Inclusão em Parafina , SefaroseRESUMO
BACKGROUND: Epithelial mesenchymal transition (EMT) has an important role in invasion and metastasis of tumor cells. The purpose of this study was to evaluate the roles of EMT-associated proteins on progression and metastasis as a prognostic/predictive factor in curatively-resected (R0) head and neck squamous cell carcinoma (HNSCC). METHODS: A total of 118 patients who received curative surgery for HNSCC at Inha University Hospital between January 1996 and December 2011 were included. We used protein immunohistochemistry to evaluate the expression of E-cadherin, vimentin, and EZH2 on tissue microarrays. Also, we reviewed all medical records and analyzed the relationship between the expression of EMT-associated proteins and prognosis. RESULTS: The E-cadherin-negative group showed more moderate/poor differentiation of cancer cell type than the higher E-cadherin-expressing group (p=.016) and high EZH2 expression was significantly correlated with nodal metastasis (p=.012). Our results demonstrate a significant association between high expression of EZH2 and vimentin and presence of distant progression (p=.026). However, expression of E-cadherin, vimentin, and EZH2 was not significantly associated with overall survival. CONCLUSIONS: These findings suggest that an EMT-associated protein expression profile is correlated with aggressiveness of disease and prognosis, and could be a useful marker for determination of additional treatment in curatively-resected HNSCC patients.
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Humanos , Caderinas , Carcinoma de Células Escamosas , Transição Epitelial-Mesenquimal , Cabeça , Imuno-Histoquímica , Prontuários Médicos , Pescoço , Metástase Neoplásica , Prognóstico , VimentinaRESUMO
No abstract available.
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Rearrangement of anaplastic lymphoma kinase (ALK) gene is the best predictor of response to crizotinib, an ALK tyrosine kinase inhibitor. However, the prevalence of the ALK fusion is low, so accurate patient identification is crucial for successful treatment using ALK inhibitors. Furthermore, most patients with lung cancer present with advanced-stage disease at the time of diagnosis, so it is important for pathologists to detect ALK-rearranged patients while effectively maximizing small biopsy or cytology specimens. In this review, we propose a guideline recommendation for ALK testing approved by the Cardiopulmonary Pathology Study Group of the Korean Society of Pathologists.
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Humanos , Biópsia , Diagnóstico , Rearranjo Gênico , Neoplasias Pulmonares , Pulmão , Linfoma , Patologia , Fosfotransferases , Prevalência , Proteínas Tirosina QuinasesRESUMO
Myofibroblastoma of the mammary type is a benign breast mesenchymal tumor. It occurs commonly in the breast, but very rarely at extra mammary sites. The extra mammary myofibroblastoma is usually located on the embryonic milkline, which is extremely rare in the head and neck area. We report the case of a 14-year-old boy who was diagnosed with mammary type myofibroblastoma in the submandibular region. In this study, we focus on the clinicopathologic features of this unusual tumor along with the literature review.
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Adolescente , Humanos , Masculino , Mama , Cabeça , Pescoço , Neoplasias de Tecido MuscularRESUMO
A case of peripheral primitive neuroectodermal tumor of the small bowel mesentery with osseous component is reported. A 23-year-old man was admitted to our hospital because of acute severe abdominal pain. Abdominal computed tomography revealed a large solid and cystic, oval shaped mass, measuring 11.0x6.0 cm in the pelvic cavity. Histologically the resected lesion consisted of sheets of undifferentiated small round cells forming Homer-Wright rosettes and perivascular pseudorosettes, and showed areas of osteoid and bone formation. Immunohistochemical studies revealed that tumor cells expressed positivity against CD99 (MIC2), CD57, neuron-specific enolase, and vimentin. Fluorescence in situ hybridization study revealed Ewing sarcoma breakpoint region 1 (EWSR1) gene rearrangement on chromosome 22q12. To the authors' knowledge this is the first documentation of a peripheral neuroectodermal tumor with osteoid and bone formation of the small bowel mesentery.
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Dor Abdominal , Fluorescência , Rearranjo Gênico , Hibridização In Situ , Intestino Delgado , Mesentério , Metaplasia , Tumores Neuroectodérmicos Primitivos , Tumores Neuroectodérmicos Primitivos Periféricos , Osteogênese , Fosfopiruvato Hidratase , Sarcoma de Ewing , VimentinaRESUMO
BACKGROUND: Simian virus 40 (SV40), a polyomavirus, was discovered as a contaminant of a human polio vaccine in the 1960s. It is known that malignant mesothelioma (MM) is associated with SV40, and that the virus works as a cofactor to the carcinogenetic effects of asbestos. However, the reports about the correlation between SV40 and MM have not been consistent. The purpose of this study is to identify SV40 in MM tissue in Korea through detection of SV40 protein and DNA. METHODS: We analyzed 62 cases of available paraffin-blocks enrolled through the Korean Malignant Mesothelioma Surveillance System and performed immunohistochemistry for SV40 protein and real-time polymerase chain reaction (PCR) for SV40 DNA. RESULTS: Of 62 total cases, 40 had disease involving the pleura (64.5%), and 29 (46.8%) were found to be of the epithelioid subtype. Immunostaining demonstrated that all examined tissues were negative for SV40 protein. Sufficient DNA was extracted for real-time PCR analysis from 36 cases. Quantitative PCR of these samples showed no increase in SV40 transcript compared to the negative controls. CONCLUSIONS: SV40 is not associated with the development of MM in Korea.