Assuntos
Adenocarcinoma de Pulmão , Carcinoma de Células Renais , Neoplasias Renais , Neoplasias Pulmonares , Mutação , Humanos , Carcinoma de Células Renais/genética , Carcinoma de Células Renais/patologia , Neoplasias Renais/genética , Neoplasias Renais/patologia , Neoplasias Pulmonares/genética , Neoplasias Pulmonares/patologia , Adenocarcinoma de Pulmão/genética , Adenocarcinoma de Pulmão/patologia , Masculino , Adenocarcinoma/genética , Adenocarcinoma/patologia , Adenocarcinoma/diagnósticoRESUMO
Inner Mongolia Cashmere goat is a well-known local cashmere goat breed in China. It is famous for excellent fleece quality and a significant advantage in cashmere yield compared to other cashmere goat breeds. In this study, a genome-wide association study was used to investigate fiber length, fiber diameter, and cashmere yield of 192 Inner Mongolia Cashmere goats using the Illumina GoatSNP52K Beadchip panel. We discovered that four single nucleotide polymorphisms (SNPs) reached genome-wide significance levels. These SNPs were located in some genes, e.g. FGF12, SEMA3D, EVPL, and SOX5, possibly related to fleece traits in Inner Mongolia Cashmere goat. Gene ontology enrichment analysis revealed that these genes were enriched in several biological pathways that were involved in hair follicle development in cashmere goats. In summary, the identified significant SNPs and genes provide useful information to explore genetic mechanisms underlying the variation in fleece traits and genomic selection of Chinese cashmere goat.
Assuntos
Estudo de Associação Genômica Ampla/veterinária , Cabras/genética , Cabelo , Animais , China , Ontologia Genética , Polimorfismo de Nucleotídeo ÚnicoRESUMO
Objective: To investigate the clinicopathological features, special morphologic variants and potential diagnostic traps of classical follicular dendritic cell sarcoma (FDCS). Methods: A total of 25 cases of classical FDCS diagnosed in the First Hospital Affiliated to Army Medical University from 2006 to 2018 were examined by hematoxylin-eosin staining, immunohistochemistry and in situ hybridization for Epstein-Barr virus-encoded mRNA (EBER). Meanwhile, the types and characteristics of the special variants of FDCS were summarized along with those reported in the literature. Results: The age of patients ranged from 23 to 77 years (mean 52 years), the male to female ratio was 1.5, and the maximum diameter of tumor was 1.5 to 20 cm (mean 7.4 cm). Twelve cases (48%) were misdiagnosed at the initial evaluation. Follow-up information was available for 17 patients, and the follow-up time was 5 to 96 months. The propotion of patients having recurrence, metastasis and mortality was 3/17, 5/17 and 2/17, respectively. Microscopically, besides the typical morphology, 10 cases of FDCS showed special histomorphologies and/or structures, including those mimicking lymphoepithelioma-like carcinoma, desmoplastic infiltrating carcinoma, classical Hodgkin's lymphoma (CHL), anaplastic large cell lymphoma (ALCL) and hemangiopericytoma. These morphologic variants were potential diagnostic pitfalls and warranted attention. Immunohistochemistry showed that more than two markers of follicular dendritic cells (such as CD21, CD23, CD35, etc.) were expressed in cases showing typical morphology and the special variants. All 25 cases were all negative for EBER by in situ hybridization. Conclusions: Classical FDCS is rare, besides the typical morphologic features, there are many special variants. In particular, these may be confused with lymphoepithelioma-like carcinoma in the nasopharynx, CHL or ALCL in the mediastinum/lymph node. Awareness of these variants is essential for accurate diagnosis.
Assuntos
Sarcoma de Células Dendríticas Foliculares , Adulto , Idoso , Células Dendríticas Foliculares , Feminino , Humanos , Imuno-Histoquímica , Hibridização In Situ , Masculino , Pessoa de Meia-Idade , Recidiva Local de Neoplasia , Adulto JovemRESUMO
Objective: To understand the consistency of ALK Ventana-D5F3 immunohistochemistry (IHC) interpretation in Chinese lung adenocarcinoma among histopathologists from different hospitals, and to recommend solution for the problems found during the interpretation of ALK IHC in real world, with the aim of the precise selection of patients who can benefit from ALK targeted therapy. Methods: This was a multicenter and retrospective study. A total of 109 lung adenocarcinoma cases with ALK Ventana-D5F3 IHC staining were collected from 31 lung cancer centers in RATICAL research group from January to June in 2018. All cases were scanned into digital imaging with Ventana iSCANcoreo Digital Slide Scanning System and scored by 31 histopathologists from different centers according to ALK binary (positive or negative) interpretation based on its manufacturer's protocol. The cases with high inconsistency rate were further analyzed using FISH/RT-PCR/NGS. Results: There were 49 ALK positive cases and 60 ALK negative cases, confirmed by re-evaluation by the specialist panel. Two cases (No. 2302 and No.2701) scored as positive by local hospitals were rescored as negative, and were confirmed to be negative by RT-PCR/FISH/NGS. The false interpretation rate of these two cases was 58.1% (18/31) and 48.4% (15/31), respectively. Six out of 31 (19.4%) pathologists got 100% accuracy. The minimum consistency between every two pathologists was 75.8%.At least one pathologist gave negative judgement (false negative) or positive judgement (false positive) in the 49 positive or 60 negative cases, accounted for 26.5% (13/49), 41.7% (25/60), respectively, with at least one uncertainty interpretation accounted for 31.2% (34/109). Conclusion: There are certain heterogeneities and misclassifications in the real world interpretation of ALK-D5F3 IHC test, which need to be guided by the oncoming expert consensus based on the real world data.
Assuntos
Adenocarcinoma de Pulmão/diagnóstico , Quinase do Linfoma Anaplásico/genética , Imuno-Histoquímica , Neoplasias Pulmonares/diagnóstico , Humanos , Hibridização in Situ Fluorescente , Variações Dependentes do Observador , Patologistas , Estudos RetrospectivosRESUMO
V-raf murine sarcoma viral oncogene homolog B1 (BRAF) is a pro-oncogene, which is one member of the RAF family. Mutated BRAF is found in approximately 8% of human tumors. BRAF gene mutations lead to continuous activation of the mitogen-activatd protein kinase (MAPK) pathway, which resulting in abnormal cell proliferation and tumorigenesis. In recent years, recurrent MAPK signaling mutations were identified in ameloblastoma, among which BRAF-V600E is the most prominent type. This provides new strategies for the targeted treatment of ameloblastoma. This paper reviewed the latest advances in BRAF gene mutation associated with ameloblastoma and its potential clinical significance.
Assuntos
Ameloblastoma/genética , Neoplasias Maxilomandibulares/genética , Mutação/genética , Proteínas Proto-Oncogênicas B-raf/genética , Animais , Humanos , Camundongos , Proteínas Quinases Ativadas por Mitógeno/genética , Pesquisa/tendências , Transdução de SinaisRESUMO
Objective: To investigate the clinicopathological features and prognostic parameters of the inflammatory pseudotumor-like follicular dendritic cell sarcoma (IPT-like FDCS) of liver and spleen. Methods: Ninteen cases of inflammatory pseudotumor (IPT) and 5 cases of IPT-like FDCS of the liver and spleen were collected at the First Affiliated Hospital, Army Medical University from 2006 to 2016. HE sections, immunohistochemical staining, and Epstein-Barr virus encoded nuclear RNA (EBER) in situ hybridization were reviewed along with a summary of the literature. Results: Among the previously diagnosed 19 cases of IPT of the liver and spleen, 2 cases were misdiagnosed (the ratio of 2/19). Among 7 new cases including 3 males and 4 females, 3 cases involved the liver and 4 cases involved the spleen. The age range was 37-64 years (mean 53 years). The maximum tumor diameter ranged from 3.0 to 11.0 cm (mean 6.5 cm). Surgical resections were performed in all patients with follow-up time ranging from 3 to 84 months.All patients were disease-free.7 new cases were all positive for EBER, and showed the expression of at least one of the FDC markers, including CD21, CD23, and CD35. The rest of 17 cases of IPT were all negative for EBER and essentially negative for FDC markers, but were all positive for SMA. Conclusions: IPT-like FDCS of the liver and spleen is a rare low-grade malignant tumor morphologically mimicking inflammatory pseudotumor, and is easy to be misdiagnosis due to under-recognition. EBER in situ hybridization and FDC markers are indispensable for confirming the diagnosis.
Assuntos
Granuloma de Células Plasmáticas/patologia , Hepatopatias/patologia , Esplenopatias/patologia , Adulto , Sarcoma de Células Dendríticas Foliculares/patologia , Feminino , Herpesvirus Humano 4/genética , Humanos , Hibridização In Situ , Masculino , Pessoa de Meia-Idade , PrognósticoRESUMO
In recent years, there are increasing articles concerning Epstein-Barr virus associated lymphoproliferative disorder (EBV+ LPD), and the name of EBV+ LPD is used widely. However, the meaning of EBV+ LPD used is not the same, which triggered confusion of the understanding and obstacles of the communication. In order to solve this problem. Literature was reviewed with combination of our cases to clarify the concept of EBV+ LPD and to expound our understanding about it. In general, it is currently accepted that EBV+ LPD refers to a spectrum of lymphoid tissue diseases with EBV infection, including hyperplasia, borderline lesions, and neoplastic diseases. According to this concept, EBV+ LPD should not include infectious mononucleosis (IM) and severe acute EBV infection (EBV+ hemophagocytic lymphohistiocytosis, fatal IM, fulminant IM, fulminant T-cell LPD), and should not include the explicitly named EBV+ lymphomas (such as extranodal NK/T cell lymphoma, aggressive NK cell leukemia, Burkitt lymphoma, and Hodgkin lymphoma, etc.) either. EBV+ LPD should currently include: (1) EBV+ B cell-LPD: lymphomatoid granulomatosis, EBV + immunodeficiency related LPD, chronic active EBV infection-B cell type, senile EBV+ LPD, etc. (2) EBV+ T/NK cell-LPD: CAEBV-T/NK cell type, hydroa vacciniforme, hypersensitivity of mosquito bite, etc. In addition, EBV+ LPD is classified, based on the disease process, pathological and molecular data, as 3 grades: grade1, hyperplasia (polymorphic lesions with polyclonal cells); grade 2, borderline (polymorphic lesions with clonality); grade 3, neoplasm (monomorphic lesions with clonality). There are overlaps between EBV+ LPD and typical hyperplasia, as well as EBV+ LPD and typical lymphomas. However, the most important tasks are clinical vigilance, early identification of potential severe complications, and treating the patients in a timely manner to avoid serious complications, as well as the active treatment to save lives when the complications happened.
Assuntos
Infecções por Vírus Epstein-Barr/complicações , Herpesvirus Humano 4 , Transtornos Linfoproliferativos/classificação , Transtornos Linfoproliferativos/virologia , Terminologia como Assunto , Doença Aguda , Linfócitos B , Linfoma de Burkitt/classificação , Doença de Hodgkin/classificação , Humanos , Mononucleose Infecciosa/classificação , Células Matadoras Naturais , Leucemia Linfocítica Granular Grande/classificação , Tecido Linfoide , Linfoma Extranodal de Células T-NK/classificação , Granulomatose Linfomatoide/classificação , Linfócitos TRESUMO
A case of intraosseous schwannoma of rib is presented. A 22-year-old woman was admitted with paroxysmal thoracic pain, unproductive cough and a hard mass of the thorax. CT scan showed a unilocular osteolystic lesion in the rib. A needle biopsy was performed, and a diagnosis of intraosseous schwannoma was made. The patient underwent a partial excision of rib and the tumour was removed. Macroscopic examination revealed a 4 x 2 x 1.5 cm solid lesion with destruction of bone. Microscopically, the tumour showed typical features of schwannoma characterised by Antoni A and Antoni B tissues and Verocay bodies. Immunohistochemically, the tumour was positive for S-100 protein, vimentin, neuron specific enolase (NSE) and glial fibrillary acidic protein (GFAP). The patient is well without local recurrence or metastasis after a 1-year follow-up. This is believed to be the second case report of primary schwannoma of rib.
Assuntos
Neoplasias Ósseas/diagnóstico , Neurilemoma/diagnóstico , Costelas , Neoplasias Ósseas/diagnóstico por imagem , Neoplasias Ósseas/patologia , Diagnóstico Diferencial , Feminino , Humanos , Neurilemoma/diagnóstico por imagem , Neurilemoma/patologia , Costelas/diagnóstico por imagem , Costelas/patologia , Tomografia Computadorizada por Raios X , Adulto JovemRESUMO
33 cases of acute glomerulonephritis treated with Ji Shen Mixture (JSM) were studied with 31 cases treated with Western medical therapy (WM) for comparison and 34 healthy subjects as controls. The levels of lipo-peroxide (LPO), glutathione peroxidase (GSH-Px), superoxide dismutase (SOD), theromboxane B2 (TXB2), 6-keto-PGF1 alpha and TXB2/6-keto-PGF1 alpha ratio were examined before and after treatment. Compared with healthy controls, the levels of LPO, TXB2, TXB2/6-keto-PGF1 alpha of patients increased and that of GSH-Px, 6-keto-PGF1 alpha decreased significantly, whereas SOD activity had no significant difference. After treatment, the level of LPO reduced and GSH-Px activities raised significantly, but the effect of JSM group was better than that of WM group. It indicated that JSM was more effective in clearing the free radicals. The TXB2, TXB2/6-keto-PGF1 alpha dropped and 6-keto-PGF1 alpha elevated significantly after treatment, the effects of JSM were markedly better than those of WM. Furthermore, JSM was more potent in raising the clearing rate of hematuria and proteinuria.
Assuntos
Medicamentos de Ervas Chinesas/uso terapêutico , Glomerulonefrite/tratamento farmacológico , 6-Cetoprostaglandina F1 alfa/sangue , Adolescente , Criança , Pré-Escolar , Feminino , Glomerulonefrite/sangue , Glutationa Peroxidase/sangue , Humanos , Peróxidos Lipídicos/sangue , Masculino , Superóxido Dismutase/sangue , Tromboxano B2/sangueRESUMO
A retrospective study was undertaken of bone lesions examined by preoperative fine needle aspiration (FNA) cytology in our hospital during the ten-year period from 1970 to 1979. The 430 cytologically examined lesions were classified into three groups: inflammatory lesions, tumorlike lesions and tumors. A total of 54 patients had undergone surgery, with most of the lesions in those cases proven to be tumors or tumorlike by histologic study. Correlation between the histologic and FNA cytologic findings showed complete compatibility in 76% of the cases, partial compatibility in 13% and incompatibility in 11%. It is concluded that FNA biopsy is appropriate for identifying bone tumors and tumorlike lesions if sufficient numbers of tumor cells are obtained for morphologic examination. Although aspiration cytodiagnosis can be of considerable value in the recognition of certain bone lesions, it cannot replace formal tissue biopsy in the diagnosis of primary bone neoplasms. The morphology of several common bone tumors is described in detail and their differential diagnosis is discussed.