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1.
Autops. Case Rep ; 12: e2021354, 2022. graf
Article in English | LILACS | ID: biblio-1360156

ABSTRACT

Peripheral neuropathy (PN) is characterized by the injury to the peripheral nervous system of varied etiology. Lymphoma is one of the etiologies of PN, presenting various neurological manifestations. Neuropathy associated with peripheral T-cell lymphoma, not otherwise specified (PTCL, NOS) is unusual and fewer cases are documented in the literature. In addition, PTCL, NOS is extremely rare as primary in the female genital tract, especially uterine cervix, and exhibits aggressive clinical course with poor therapy response. We hereby describe a 47-year-old female who presented with fever and chills for 15 days. Clinical examination revealed left-sided lower motor neuron type of facial nerve palsy with Bell's phenomenon. Nerve conduction study of all four limbs illustrated asymmetrical axonal neuropathy (motor > sensory), suggesting mononeuritis multiplex. She developed vaginal bleeding during her hospital stay. Pelvic examination and imaging revealed a 4x3cm polypoidal mass on the posterior lip of the cervix, which was excised and diagnosed as extranodal primary PTCL, NOS based on morphology, immunohistochemistry, and in-situ hybridization findings. Besides, the cerebrospinal fluid (CSF) was infiltrated by the lymphoma cells, detected on cell block preparation. The patient succumbed to her illness within one week despite best efforts and the commencement of chemotherapy. No consent was obtainable for nerve biopsy and autopsy. Thus, we report an extremely rare case of primary extranodal PTCL, NOS of the uterine cervix with unusual presentation of mononeuritis multiplex. Further, we discussed the differentials of PTCL, NOS at this extranodal site.


Subject(s)
Humans , Female , Middle Aged , Uterine Cervical Neoplasms/complications , Lymphoma, T-Cell, Peripheral/complications , Mononeuropathies/etiology , Biopsy , Immunohistochemistry , Uterine Cervical Neoplasms/diagnosis , Lymphoma, T-Cell/diagnosis , In Situ Hybridization , Fatal Outcome
2.
Medicina (B.Aires) ; 81(3): 458-461, jun. 2021. graf
Article in English | LILACS | ID: biblio-1346485

ABSTRACT

Abstract Idiopathic CD4 lymphocytopenia (ICL) not related to HIV is an infrequent and severe condition with no etiology defined until now. The concomitant presence of an underlying disease, especially an oncohematological process, could be related to the immune physiopathology and the development of the im munosuppressive state. On the other hand, Epstein Barr virus is a well-known oncogenic pathogen described in the development of several types of lymphoma which might be reactivated in the ICL. There is still no specific treatment for this syndrome, so the therapeutic scope for these patients is the treatment of opportunistic diseases and the administration of specific antimicrobials as prophylaxis. We present a patient with an uncommon asso ciation of an ICL and an extranodal T/NK lymphoma with detection of VEB nuclear RNA by in situ hybridization (EBER). Diagnosis was challenging which led the health team to carry out many studies over several months


Resumen La linfocitopenia CD4 idiopática (ICL) no relacionada al HIV es una condición grave e infrecuente sin una etiología aún definida. La presencia de una enfermedad subyacente, especialmente un proceso oncohematológico, podría tener relación en la fisiopatología del proceso inmunológico. Por otro lado, el virus Epstein Barr (VEB) es bien conocido por ser un patógeno oncogénico descrito en el desarrollo de diversos tipos de linfomas, el cual podría ser reactivado en estados de inmunosupresión severa. No existe aún un tratamiento específico para este síndro me, por lo que el objetivo terapéutico en estos pacientes radica en el manejo profiláctico y activo de las distintas enfermedades oportunistas ante las cuales son susceptibles. Se presenta un paciente con un déficit grave de linfocitos CD4 de causa idiopática, y un diagnóstico posterior de linfoma T/NK extraganglionar con detección de RNA nuclear de VEB por hibridización in situ (EBER), una asociación poco descrita en la literatura médica.


Subject(s)
Humans , Epstein-Barr Virus Infections , Primary Immunodeficiency Diseases , Lymphopenia , In Situ Hybridization , Herpesvirus 4, Human/genetics
3.
Article in Spanish | LILACS, CUMED | ID: biblio-1289427

ABSTRACT

Introducción: La leucemia linfoide crónica es un trastorno linfoproliferativo caracterizado por la acumulación de linfocitos pequeños de aspecto maduro en sangre periférica, médula ósea y tejidos linfoides con un período de vida prolongado. Presenta una gran variabilidad clínica y genética. Objetivo: Describir los aspectos citogenéticos y moleculares de la leucemia linfoide crónica. Métodos: Se realizó revisión de la literatura en inglés y español, a través del sitio web PubMed y el motor de búsqueda Google académico, de artículos publicados en los últimos 5 años. Se hizo un análisis y resumen de la bibliografía revisada. Desarrollo: En la leucemia linfoide crónica están presentes alteraciones citogenéticas frecuentes como la deleción de los cromosomas 13q, 11q y 17p, así como la trisomía 12, que unido al conocimiento del estado mutacional del gen de la región variable de la cadena pesada de la inmunoglobulina, y otras mutaciones somáticas en diferentes genes, así como a variables clínicas y de laboratorio permiten la estratificación pronóstica de los pacientes. Conclusiones: El diagnóstico a través de los estudios citogenéticos convencionales estimulados con mitógenos, la hibridación in situ por fluorescencia y la secuenciación génica permite una mayor comprensión de la biología de la enfermedad, así como tomar decisiones terapéuticas más personalizadas(AU)


Introduction: Chronic B lymphoid leukemia is a lymphoproliferative disorder characterized by the accumulation of small, mature-looking lymphocytes in peripheral blood, bone marrow and lymphoid tissues with a long life span. It has great clinical and genetic variability. Objective: To describe the cytogenetic and molecular aspects of the disease. Methods: A review of the literature in English and in Spanish was carried out, in the PubMed website and using the search engine of Google Scholar, for articles published in the last five years. We performed analysis and summary of the reviewed bibliography. Development: In chronic lymphoid leukemia, frequent cytogenetic alterations are present such as deletion of chromosomes 13q, 11q and 17p, as well as trisomy 12, which together with the knowledge of the mutational status of the gene for the variable region of the immunoglobulin heavy chain and other somatic mutations in different genes, as well as clinical and laboratory variables allows prognostic stratification of patients. Conclusions: Diagnosis through conventional mitogen-stimulated cytogenetic studies, fluorescence in situ hybridization and gene sequencing allow a better understanding of the biology of the disease, as well as making more personalized therapeutic decisions(AU)


Subject(s)
Biology , Genetic Therapy , Leukemia, Lymphoid/genetics , In Situ Hybridization , Cytogenetics , Lymphoproliferative Disorders , Mutation
4.
Article in English | WPRIM | ID: wpr-878406

ABSTRACT

OBJECTIVES@#A study was conducted to explore the expression pattern and function of ferritin heavy polypeptide gene (fth1b) in zebrafish pharyngeal teeth development and lay the foundation for subsequent research on teeth development and mineralization.@*METHODS@#The zebrafish embryos were harvested at 56, 72, 96, and 120 h after fertilization. The expression of fth1b in zebrafish pharyngeal teeth development was detected by whole embryo @*RESULTS@#The expression pattern of fth1b gene was very similar to that of the known zebrafish pharyngeal teeth marker dlx2b and was specifically expressed in the zebrafish pharyngeal teeth during development. After the specific knockout of the gene fth1b, the earliest gene that can be detect in zebrafish pharyngeal teeth-pitx2 was expressed normally during early development. The dlx2b expression was not significantly different from that of wild type zebrafish, but the mineralization of pharyngeal teeth in the mutant was weaker than that of wild type zebrafish.@*CONCLUSIONS@#The gene fth1b is specifically expressed in zebrafish pharyngeal teeth and acts on their early mineralization.


Subject(s)
Animals , In Situ Hybridization , Odontogenesis , Pharynx , Tooth , Zebrafish/genetics
5.
Autops. Case Rep ; 10(1): 2020138, Jan.-Mar. 2020. ilus
Article in English | LILACS | ID: biblio-1087658

ABSTRACT

Lymphoepithelial-like carcinoma (LEC) is a rare malignant neoplasm, which can be associated with Epstein-Barr virus (EBV) infection. Histologically, LEC is an undifferentiated carcinoma with an intermixed reactive lymphoplasmacytic infiltrate. LEC appears to be an uncommon tumor type of lip carcinoma. An 82-year-old white woman presented a lesion on her lower lip that developed over the last year. The lesion was characterized by ulceration with flat edges, hardened base, painful, and absence of regional lymphadenopathy. Microscopical analysis evidenced an intense inflammatory infiltrate, composed of lymphoplasmacytic cells, associated with scarce pleomorphic epithelial cells. Immunohistochemistry highlighted the LEC cells with strong expression of pan-CK AE1/AE3, EMA, p63, and p53. CD138 was also faintly positive. Ki-67 was >85%. In situ hybridization analysis did not show evidence of EBV. A diagnostic of EBV-negative LEC was made. We present an uncommon type of lip carcinoma, which can represent a diagnostic challenge for clinicians and pathologists.


Subject(s)
Humans , Female , Aged, 80 and over , Squamous Cell Carcinoma of Head and Neck/diagnosis , Head and Neck Neoplasms , Lip Diseases/diagnosis , Immunohistochemistry , In Situ Hybridization
6.
Cienc. tecnol. salud ; 7(1): 53-61, 2020. ^c27 cmilus
Article in Spanish | LILACS | ID: biblio-1120402

ABSTRACT

El Virus Epstein Barr (EBV) está relacionado como agente oncogénico en el desarrollo del cáncer gástrico, atribuyéndosele el 10 % de los casos de esta neoplasia a nivel mundial. No existen estudios previos que identifiquen la presencia EBV en los pacientes con cáncer gástrico en Guatemala, por lo que en este estudio se evaluó por hibridación in situ la presencia del micro ARN EBER (Epstein Barr ­encoded RNAs) de EBV en 71 pacientes con cáncer gástrico que asistieron al Instituto de Cancerología (Incan). Se determinó una prevalencia de 21.1 % (IC 95 % [10.9, 31.3] ) (15 pacientes), mayor que la reportada en otros estudios latinoamericanos. Se determinó asociación significativa entre la expresión del EBER del EBV, y el género masculino OR = 4.9 (IC 95 % [1.4, 17.5]) p < .05. Los factores asociados fueron, el padecer diarrea OR 5.7 IC 95 % [1.5, 12.6] p = .008, y la detección del anticuerpos de Helicobacter pylori séricos, OR 7.2 (IC 95 % [1.1, 18.9]) p = .03. Aun cuando la mayoría de los pacientes que expresan el EBER de EBV desarrollaron cáncer gástrico del tipo difuso 66.67 % no existe asociación significativa p = 0.13 OR = 2.5 (IC 95 % [1.1, 8.2]).


The Epstein Barr Virus (EBV) is related, as an oncogenic agent, in the development of gastric cancer, accounting for 10 % of the cases of this neoplasm worldwide. There are no previous studies that identify the presence of EBV in patients with gastric cancer in Guatemala, so in this study the presence of the EBER micro EBV of EBV was evaluated by in situ hybridization in 71 patients with gastric cancer who attended the Cancer Institute (Incan). A prevalence of 21.1% (95 % CI [10.9, 31.3]) was determined (15 patients), higher than that reported in other Latin American studies. A significant association was found between the EBER expression of EBV, and the male gender OR = 4.9 (95 % CI [1.4, 17.5]) p < .05. The associated factors were diarrhea OR 5.7 95 % (CI [1.5, 12.6]) p = .008, and detection of Helicobacter pylori serum antibodies, OR 7.2 95 % CI [1.1, 18.9] p = .03. Although the majority of patients expressing EBV EBER developed gastric cancer of the diffuse type 66.67% there is no significant association p = 0.13, OR = 2.5 (95 % CI [1.1, 8.2]).


Subject(s)
Humans , Male , Female , Adult , Middle Aged , Aged , Aged, 80 and over , Stomach Neoplasms/pathology , In Situ Hybridization , Herpesvirus 4, Human , Biopsy/methods , Prevalence , Helicobacter pylori , Epstein-Barr Virus Infections/diagnosis , Diarrhea , Guatemala
7.
Article in Chinese | WPRIM | ID: wpr-826333

ABSTRACT

To explore the clinicopathological and immunohistochemical characteristics of follicular dendritic cell sarcoma(FDCS)and the expressions of IgG and IgG4. We retrospectively analyzed the clinicopathological and immunohistochemical data of 9 pathologically confirmed FDCS cases in Peking Union Medical College Hospital from January 2005 to December 2018.Immunohistochemical staining of IgG and IgG4 were performed,and Epstein-Barr virus(EBV)-encoded RNA(EBER)in situ hybridization were carried out. Nine cases of FDCS included 4 men and 5 women aged 16-53 years [mean(38.2±9.7)years].The clinical manifestations included masses,lymph node enlargement,rash,and fever.The tumors were located in lymph node,retroperitoneal region,adrenal gland,neck,axillary region,and liver,respectively.Ultrasound showed clear boundary cystic or solid mass with maximum diameters of 1.5-15.0 cm.Microscopically,the spindle tumor cells were arranged in solid and storiform patterns with abundant and slightly stained cytoplasm,vacuolated nuclei,and small nucleoli.The mitosis was 1-3/10 high power fields,and necrosis was found in 5 cases.Immunohistochemically,the tumor cells were positive for CD21(6/9),CD35(6/9),and CD23(7/9). FDCS is a rare malignant tumor,which is easy to be missed.The combination of CD21,CD35,and CD23 is helpful for diagnosis.Hyaline-vascular type Castleman's disease may be the precursor of FDCS,and there may be only a small number of IgG4-positive plasma cells in FDCS.Surgical resection remains the main treatment for FDCS.


Subject(s)
Adolescent , Adult , Dendritic Cell Sarcoma, Follicular , Female , Humans , In Situ Hybridization , Liver , Lymph Nodes , Male , Middle Aged , Retrospective Studies , Young Adult
8.
Article in English | WPRIM | ID: wpr-811193

ABSTRACT

Breast adenomyoepitheliomas are composed of a biphasic proliferation of myoepithelial cells around small epithelial-lined spaces. Due to the rarity of adenomyoepitheliomas, the molecular data describing them are limited. Adenomyoepitheliomas are considered to be benign or have low malignant potential, and be prone to local recurrence. Malignant transformation has been associated with homozygous deletion of CDKN2A or somatic mutations in TERT, but remains unexplained in many cases. Here, we describe a case of carcinomatous transformation of both epithelial and myoepithelial cells in an estrogen receptor-negative adenomyoepithelioma caused by amplification of MYC. Break-apart fluorescence in situ hybridization revealed an increase in the MYC gene copy number (3–4 copies/cell in 37%, > 4 copies/cell in 40%). Deregulation of MYC is responsible for uncontrolled proliferation and cellular immortalization in basal-like breast cancers. Our case demonstrates that genomic instability events associated with gene amplification may be involved in the carcinogenesis of malignant adenomyoepitheliomas.


Subject(s)
Adenomyoepithelioma , Breast Neoplasms , Breast , Carcinogenesis , Estrogens , Fluorescence , Gene Amplification , Genes, myc , Genomic Instability , In Situ Hybridization , In Situ Hybridization, Fluorescence , Recurrence
11.
Article in English | WPRIM | ID: wpr-787136

ABSTRACT

Regulator of calcineurin 1 (RCAN1) can be induced by an intracellular calcium increase and oxidative stress, which are characteristic features of temporal lobe epilepsy. Thus, we investigated the spatiotemporal expression and cellular localization of RCAN1 protein and mRNA in the mouse hippocampus after pilocarpine-induced status epilepticus (SE). Male C57BL/6 mice were given pilocarpine hydrochloride (280 mg/kg, i.p.) and allowed to develop 2 h of SE. Then the animals were given diazepam (10 mg/kg, i.p.) to stop the seizures and sacrificed at 1, 3, 7, 14, or 28 day after SE. Cresyl violet staining showed that pilocarpine-induced SE resulted in cell death in the CA1 and CA3 subfields of the hippocampus from 3 day after SE. RCAN1 immunoreactivity showed that RCAN1 was mainly expressed in neurons in the shammanipulated hippocampi. At 1 day after SE, RCAN1 expression became detected in hippocampal neuropils. However, RCAN1 signals were markedly enhanced in cells with stellate morphology at 3 and 7 day after SE, which were confirmed to be reactive astrocytes, but not microglia by double immunofluorescence. In addition, real-time reverse transcriptase–polymerase chain reaction showed a significant upregulation of RCAN1 isoform 4 (RCAN1-4) mRNA in the SE-induced hippocampi. Finally, in situ hybridization with immunohistochemistry revealed astrocytic expression of RCAN1-4 after SE. These results demonstrate astrocytic upregulation of RCAN1 and RCAN1-4 in the mouse hippocampus in the acute and subacute phases of epileptogenesis, providing foundational information for the potential role of RCAN1 in reactive astrocytes during epileptogenesis.


Subject(s)
Animals , Astrocytes , Calcineurin , Calcium , Cell Death , Diazepam , Epilepsy , Epilepsy, Temporal Lobe , Fluorescent Antibody Technique , Hippocampus , Humans , Immunohistochemistry , In Situ Hybridization , Male , Mice , Microglia , Neurons , Neuropil , Oxidative Stress , Pilocarpine , RNA, Messenger , Seizures , Status Epilepticus , Up-Regulation , Viola
12.
Article in English | WPRIM | ID: wpr-764548

ABSTRACT

OBJECTIVES: Human epidermal growth factor receptor-2 (HER2) and 3 (HER3) belong to the epidermal growth factor receptor (EGFR) family of transmembrane receptor tyrosine kinases. In this study, we assessed HER2/HER3 expression levels in specimens of epithelial ovarian cancer and determined their correlation with clinical features of ovarian cancer. METHODS: Tissue microarrays (TMAs) were prepared from paraffin blocks of 105 ovarian tumour samples. HER2, HER3, PI3K, Akt, p-Akt, mTOR, p-mTOR, S6, and p-S6 expression levels were investigated using immunohistochemistry (IHC). HER2 and HER3 amplifications were determined using in situ hybridization (ISH). The correlation between HER2/3 expression and disease outcome of the patients including surgical outcome, progression-free survival (PFS) and overall survival (OS) was analysed. RESULTS: HER2 positivity was 3.8% by IHC and 5.7% by ISH, whereas that of HER3 was 12.4% and 8.6%, respectively. HER2 status by either IHC or ISH was not related to PFS (p=0.128, 0.168, respectively) and OS (p=0.245, 0.164, respectively). However, the HER3 status determined using fluorescence ISH was associated with poor PFS (p=0.035 on log rank test), which was a significant risk factor even after adjusting other possible risk factors in multivariate analysis (hazard ratio=2.377 [1.18–7.49], p=0.021). Expressions of Akt, p-mTOR, and S6 were also related with poor progression (p=0.008, 0.049, 0.014, respectively). CONCLUSION: HER3 is possibly an independent marker for poor prognosis in individuals with ovarian cancer, as the HER3 signalling pathway is distinct from that of HER2. The possibility of targeted therapy for patients with HER3 alteration in ovarian cancer should be evaluated.


Subject(s)
Disease-Free Survival , Epidermal Growth Factor , Fluorescence , Humans , Immunohistochemistry , In Situ Hybridization , Multivariate Analysis , Ovarian Neoplasms , Paraffin , Phosphotransferases , Prognosis , ErbB Receptors , Risk Factors , Tyrosine
13.
Article in Chinese | WPRIM | ID: wpr-774353

ABSTRACT

OBJECTIVE@#To analyze the correlation of EBV infection with expression of TNF-α-inducing protein 3 gene and A20 protein in Hodgkin lmphoma.@*METHODS@#The clinical data and pathological specimens of 65 cases of Hodgkin's lymphoma in our hospital were analyzed retrospectively, and the tissue chips were made for the rich area of the tumor cells. The latent membrane protein 1 encoded by EBV was measured by immunohistochemical staining, and the RNA encoded by EBV was measured by in situ hybridization to analyze the infection state. The gene expression of tumor necrosis factor.α-induced protein 3 was detected by fluorescence in situ hybridization, and the expression of A20 protein encoded by EBV was detected by immunohistochemical staining. The obtained data were processed by SPSS 23.0 version statistical software.@*RESULTS@#The positive rate of latent membrane protein 1 was 26.15% (17/65), the positive rate of EBV encoded RNA was 26.15% (17/65), and the coincidence rate was 100.00%. In 65 patients, A20 protein expression was lost in 18 cases (27.69%), and 14 cases (21.54%) showed homozygous or heterozygous deletion of tumor necrosis factorα protein 3 gene. Only 1 case showed A20 loss combined with homozygous deletion of TNFα inducible protein 3. Correlation analysis showed that EBV infection did not significantly relate with expression loss of A20 protein and the gene deletion of TNF-α inducing protein 3 (P>0.05).@*CONCLUSION@#The expression loss of A20 protein and gene detection of TNFα inducing protein 3 are found in both EBV negative and positive patients with Hodgkin's lymphoma, however the results of immunohistochemical staining and fluorescence in situ hybridization are not complete consistant, the reason may closely relate with the technical factors.


Subject(s)
Epstein-Barr Virus Infections , Herpesvirus 4, Human , Hodgkin Disease , Humans , In Situ Hybridization , In Situ Hybridization, Fluorescence , Retrospective Studies , Tumor Necrosis Factor alpha-Induced Protein 3 , Genetics , Viral Matrix Proteins
14.
Article in English | WPRIM | ID: wpr-766040

ABSTRACT

BACKGROUND: The 2016 World Health Organization (WHO) classification of central nervous system (CNS) tumors has been modified to incorporate the IDH mutation and 1p/19q co-deletion in the diagnosis of diffuse gliomas. In this study, we aimed to evaluate the feasibility and prognostic significance of the revised 2016 WHO classification of CNS tumors in Mongolian patients with diffuse gliomas. METHODS: A total of 124 cases of diffuse gliomas were collected, and tissue microarray blocks were made. IDH1 mutation was tested using immunohistochemistry, and 1p/19q co-deletion status was examined using fluorescence in situ hybridization analysis. RESULTS: According to the 2016 WHO classification, 124 cases of diffuse brain glioma were reclassified as follows: 10 oligodendroglioma, IDHmut and 1p/19q co-deleted; three anaplastic oligodendroglioma, IDHmut and 1p/19q co-deleted; 35 diffuse astrocytoma, IDHmut, 11 diffuse astrocytoma, IDHwt, not otherwise specified (NOS); 22 anaplastic astrocytoma, IDHmut, eight anaplastic astrocytoma, IDHwt, NOS; and 35 glioblastoma, IDHwt, NOS, respectively. The 2016 WHO classification presented better prognostic value for overall survival in patients with grade II tumors than traditional histological classification. Among patients with grade II tumors, those with oligodendroglioma IDHmut and 1p/19q co-deleted and diffuse astrocytoma IDHmut showed significantly higher survival than those with diffuse astrocytoma IDHwt, NOS (p<.01). CONCLUSIONS: Mongolian diffuse gliomas could be reclassified according to the new 2016 WHO classification. Reclassification revealed substantial changes in diagnosis of both oligodendroglial and astrocytic entities. We have confirmed that the revised 2016 WHO CNS tumor classification has prognostic significance in Mongolian patients with diffuse gliomas, especially those with grade II tumors.


Subject(s)
Astrocytoma , Brain , Central Nervous System , Chromosome Deletion , Classification , Diagnosis , Fluorescence , Glioblastoma , Glioma , Global Health , Humans , Immunohistochemistry , In Situ Hybridization , Isocitrate Dehydrogenase , Nervous System Neoplasms , Nervous System , Oligodendroglioma , World Health Organization
15.
Article in English | WPRIM | ID: wpr-766038

ABSTRACT

BACKGROUND: Single staining is commonly performed for practical pathologic diagnoses. However, this method is limited in its ability to specify cellular morphology and immunophenotype and often requires consumption of limited tissue. This study aimed to describe an optimized protocol for multiple in situ hybridization (ISH) and immunohistochemistry (IHC). METHODS: The quality of multistaining was evaluated by carefully changing each step of ISH and IHC in an angioimmunoblastic T-cell lymphoma (AITL) case on a Ventana BenchMark XT automated immunostainer. The optimized protocols were also performed using another immunostainer and in 15 cases of five Epstein-Barr virus (EBV)–associated malignancies using formalin-fixed paraffin-embedded tissue. RESULTS: The quality of various ISH-IHC staining protocols was semi-quantitatively evaluated. The best EBV-encoded RNA (EBER)-ISH/double IHC staining quality, equivalent to single staining, was obtained using the following considerations: initial EBER-ISH application, use of protease and antigen retrieval reagent (cell conditioning 1 [CC1] treatment time was minimized due to impact on tissue quality), additional baking/deparaffinization not needed, and reduced dilution ratio and increased reaction time for primary antibody compared with single immunostaining. Furthermore, shorter second CC1 treatment time yielded better results. Multiple staining was the best quality in another immunostainer and for different types of EBV-associated malignancies when it was performed in the same manner as for the Ventana BenchMark XT as determined for AITL. CONCLUSIONS: EBER-ISH and double IHC could be easily used in clinical practice with currently available automated immunostainers and adjustment of reagent treatment time, dilution ratio, and antibody reaction time.


Subject(s)
Benchmarking , Diagnosis , Herpesvirus 4, Human , Immunohistochemistry , In Situ Hybridization , Lymphoma, T-Cell , Methods , Reaction Time , RNA
16.
Article in English | WPRIM | ID: wpr-763122

ABSTRACT

PURPOSE: We aimed to analyze the discordance between immunohistochemistry (IHC)-based surrogate subtyping and PAM50 intrinsic subtypes and to assess overall survival (OS) according to discordance. MATERIALS AND METHODS: A total of 607 patients were analyzed. Hormone receptor (HR) expression was evaluated by IHC, and human epidermal growth factor receptor 2 (HER2) expression was analyzed by IHC and/or fluorescence in situ hybridization. PAM50 intrinsic subtypes were determined according to 50 cancer genes using the NanoString nCounter Analysis System. We matched concordant tumor as luminal A and HR+/HER2–, luminal B and HR+/HER2+, HR–/HER2+ and HER2–enriched, and triple-negative breast cancer (TNBC) and normal- or basal-like. We used Ion Ampliseq Cancer Panel v2 was used to identify the genomic alteration related with discordance. The Kaplan-Meier method was used to estimate OS. RESULTS: In total, 233 patients (38.4%) were discordant between IHC-based subtype and PAM50 intrinsic subtype. Using targeted sequencing, we detected somatic mutation–related discordant breast cancer including the VHL gene in the HR+/HER2– group (31% in concordant group, 0% in discordant group, p=0.03) and the IDH and RET genes (7% vs. 12%, p=0.02 and 0% vs. 25%, p=0.02, respectively) in the TNBC group. Among the luminal A/B patients with a discordant result had significantly worse OS (median OS, 73.6 months vs. not reached; p < 0.001), and among the patients with HR positivity, the basal-like group as determined by PAM50 showed significantly inferior OS compared to other intrinsic subtypes (5-year OS rate, 92.2% vs. 75.6%; p=0.01). CONCLUSION: A substantial portion of patients showed discrepancy between IHC subtype and PAM50 intrinsic subtype in our study. The survival analysis demonstrated that current IHC-based classification could mislead the treatment and result in poor outcome. Current guidelines for IHC might be updated accordingly.


Subject(s)
Breast Neoplasms , Breast , Classification , Fluorescence , Genes, Neoplasm , Humans , Immunohistochemistry , In Situ Hybridization , Methods , Phenobarbital , ErbB Receptors , Triple Negative Breast Neoplasms
17.
Neotrop. ichthyol ; 17(2): e190010, 2019. tab, graf
Article in English | LILACS, VETINDEX | ID: biblio-1012708

ABSTRACT

The transposable elements (TE) have been widely applied as physical chromosome markers. However, in Loricariidae there are few physical mapping analyses of these elements. Considering the importance of transposable elements for chromosomal evolution and genome organization, this study conducted the physical chromosome mapping of retroelements (RTEs) Rex1, Rex3 and Rex6 in seven species of the genus Harttia and four species of the genus Hypostomus, aiming to better understand the organization and dynamics of genomes of Loricariidae species. The results showed an intense accumulation of RTEs Rex1, Rex3 and Rex6 and dispersed distribution in heterochromatic and euchromatic regions in the genomes of the species studied here. The presence of retroelements in some chromosomal regions suggests their participation in various chromosomal rearrangements. In addition, the intense accumulation of three retroelements in all species of Harttia and Hypostomus, especially in euchromatic regions, can indicate the participation of these elements in the diversification and evolution of these species through the molecular domestication by genomes of hosts, with these sequences being a co-option for new functions.(AU)


Os elementos transponíveis (TE) têm sido amplamente aplicados como marcadores cromossômicos. Contudo, em Loricariidae, há poucas análises de mapeamento físico destes elementos. Considerando a importância de elementos transponíveis para a evolução cromossômica e organização genômica, este trabalho realizou o mapeamento físico cromossômico dos retroelementos (RTEs) Rex1, Rex3 e Rex6 em sete espécies do gênero Harttia e em quatro espécies do gênero Hypostomus, com o intuito de melhor compreender a organização e dinâmica dos genomas das espécies de Loricariidae. Os resultados evidenciaram um intenso acúmulo dos RTEs Rex1, Rex3 e Rex6 e distribuição dispersa em regiões heterocromáticas e eucromáticas no genoma das espécies estudadas. A presença de retroelementos em algumas regiões cromossômicas sugere sua participação em vários rearranjos cromossômicos. Além disso, o intenso acúmulo dos três retroelementos em todas as espécies de Harttia e Hypostomus, especialmente em regiões eucromáticas, pode indicar a participação destes elementos na diversificação e evolução destas espécies através da domesticação molecular pelo genoma dos hospedeiros, com estas sequências sendo co-optadas paras novas funções.(AU)


Subject(s)
Animals , Catfishes/genetics , Genes, pX/genetics , In Situ Hybridization/veterinary
18.
Yonsei Medical Journal ; : 132-139, 2019.
Article in English | WPRIM | ID: wpr-742526

ABSTRACT

PURPOSE: Clinical implications of single patient classifier (SPC) and microsatellite instability (MSI) in stage II/III gastric cancer have been reported. We investigated SPC and the status of MSI and Epstein-Barr virus (EBV) as combinatory biomarkers to predict the prognosis and responsiveness of adjuvant chemotherapy for stage II/III gastric cancer. MATERIALS AND METHODS: Tumor specimens and clinical information were collected from patients enrolled in CLASSIC trial, a randomized controlled study of capecitabine plus oxaliplatin-based adjuvant chemotherapy. The results of nine-gene based SPC assay were classified as prognostication (SPC-prognosis) and prediction of chemotherapy benefit (SPC-prediction). Five quasimonomorphic mononucleotide markers were used to assess tumor MSI status. EBV-encoded small RNA in situ hybridization was performed to define EBV status. RESULTS: There were positive associations among SPC, MSI, and EBV statuses among 586 patients. In multivariate analysis of disease-free survival, SPC-prognosis [hazard ratio (HR): 1.879 (1.101–3.205), 2.399 (1.415–4.067), p=0.003] and MSI status (HR: 0.363, 95% confidence interval: 0.161–0.820, p=0.015) were independent prognostic factors along with age, Lauren classification, TNM stage, and chemotherapy. Patient survival of SPC-prognosis was well stratified regardless of EBV status and in microsatellite stable (MSS) group, but not in MSI-high group. Significant survival benefit from adjuvant chemotherapy was observed by SPC-Prediction in MSS and EBV-negative gastric cancer. CONCLUSION: SPC, MSI, and EBV statuses could be used in combination to predict the prognosis and responsiveness of adjuvant chemotherapy for stage II/III gastric cancer.


Subject(s)
Biomarkers , Capecitabine , Chemotherapy, Adjuvant , Classification , Disease-Free Survival , Drug Therapy , Herpesvirus 4, Human , Humans , In Situ Hybridization , Microsatellite Instability , Microsatellite Repeats , Multivariate Analysis , Prognosis , RNA , Stomach Neoplasms
19.
Yonsei Medical Journal ; : 158-162, 2019.
Article in English | WPRIM | ID: wpr-742523

ABSTRACT

PURPOSE: Trastuzumab is an effective treatment for human epidermal growth factor receptor 2 (HER2)-amplified breast cancers. We sought to develop a simple protocol for HER2 image analysis of breast cancer specimens. MATERIALS AND METHODS: In a preliminary test, we found that at least 1000 tumor cells need to be examined in the most strongly stained areas. Next, we evaluated the clinical usefulness of this established protocol of image analysis in 555 breast cancer patients. Results of the HER2 immunohistochemical (IHC) staining were compared between manual scoring and image analysis. RESULTS: The HER2 IHC results obtained by the image analysis method correlated well with those obtained by the manual scoring method (Cohen's kappa=0.830). Using the HER2 silver in situ hybridization (SISH) results as a gold standard, sensitivity values were 72.1% for manual scoring and 74.0% for image analysis; specificity values were 96.2% for manual scoring and 94.7% for image analysis; and accuracy values were 91.7% for manual scoring and 90.8% for image analysis. McNemar's test was applied to the results, and there were no statistically significant differences in sensitivity and specificity between the positive (p=0.688) and negative (p=0.118) SISH groups. CONCLUSION: HER2 image analysis results were similar to those obtained via the manual scoring method, indicating that the use of image analysis can reduce assessment time and effort. We suggest that image analysis-based evaluation of 1000 tumor cells in the most strongly IHC-stained area, regardless of stroma content, is sufficient for determining HER2 expression levels in breast cancer specimens.


Subject(s)
Breast Neoplasms , Breast , Humans , Immunohistochemistry , In Situ Hybridization , Methods , ErbB Receptors , Research Design , Sensitivity and Specificity , Silver , Trastuzumab
20.
Article in Korean | WPRIM | ID: wpr-742145

ABSTRACT

Epstein-Barr virus (EBV) is the cause of infectious mononucleosis, which is characterized by fever, lymphadenopathy, and sore throat. On the other hand, gastrointestinal symptoms of EBV infection like dyspepsia, abdominal pain are non-specific and rarely encountered, which means it is difficult to diagnose gastric involvement of EBV infection without suspicion. The relation between gastric carcinoma and gastric lymphoma associated with EBV infection is well defined, but relations with other EBV-associated gastrointestinal diseases such as gastritis and peptic ulcer disease have rarely been reported. We report a case of benign gastric ulcer with EBV infection confirmed by endoscopic and histological findings.


Subject(s)
Abdominal Pain , Dyspepsia , Epstein-Barr Virus Infections , Fever , Gastritis , Gastrointestinal Diseases , Hand , Helicobacter pylori , Herpesvirus 4, Human , In Situ Hybridization , Infectious Mononucleosis , Lymphatic Diseases , Lymphoma , Peptic Ulcer , Pharyngitis , Stomach Ulcer
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