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2.
Cancer Cytopathol ; 130(8): 576-578, 2022 08.
Artigo em Inglês | MEDLINE | ID: mdl-35679145
3.
Am J Surg Pathol ; 45(8): 1047-1060, 2021 08 01.
Artigo em Inglês | MEDLINE | ID: mdl-33492848

RESUMO

Congenital myenteric hypoganglionosis is a rare developmental disorder characterized clinically by severe and persistent neonatal intestinal pseudoobstruction. The diagnosis is established by the prevalence of small myenteric ganglia composed of closely spaced ganglion cells with sparse surrounding neuropil. In practice, the diagnosis entails familiarity with the normal appearance of myenteric ganglia in young infants and the ability to confidently recognize significant deviations in ganglion size and morphology. We review clinical, histologic, and immunohistochemical findings from 12 patients with congenital myenteric hypoganglionosis in comparison with similar data from age-matched controls and clearly delineate the diagnostic features of the condition. Practical guidelines are provided to assist surgical pathologists, who are likely to encounter this condition only infrequently. The diagnosis typically requires full-thickness intestinal biopsy as the abnormality is confined to the myenteric plexus in many patients. Immunohistochemistry for Hu C/D may be used to confirm hypoganglionosis. Reduced staining for calretinin and NeuN implicates a selective deficiency of intrinsic primary afferent neurons in this disease.


Assuntos
Doenças do Colo/congênito , Doenças do Colo/patologia , Anormalidades do Sistema Digestório/patologia , Plexo Mientérico/patologia , Neurônios/patologia , Criança , Pré-Escolar , Anormalidades do Sistema Digestório/complicações , Feminino , Humanos , Lactente , Pseudo-Obstrução Intestinal/etiologia , Pseudo-Obstrução Intestinal/patologia , Masculino
4.
Hum Pathol ; 102: 88-93, 2020 08.
Artigo em Inglês | MEDLINE | ID: mdl-32800346

RESUMO

Spindle cell lipomas/pleomorphic lipomas, mammary-type myofibroblastomas, and cellular angiofibromas are benign mesenchymal tumors that demonstrate histologically overlapping features but with varying anatomic locations and an uncertain etiologic relationship. These tumors have also been found to have an overlapping molecular profile with shared 13q14 deletions, which is the location of the tumor suppressor gene RB1 that encodes the retinoblastoma protein. Molecular studies thus far have largely focused on the RB1 locus, using primarily immunohistochemistry and fluorescence in situ hybridization to characterize RB1 status. However, further characterization of the molecular profile of these lesions, including genome-wide copy number variation, remains to be well defined. The goal of this study is to further characterize the specific RB1 deletions seen in spindle cell lipomas/pleomorphic lipomas, cellular angiofibromas, and mammary-type myofibroblastomas as well as to evaluate these neoplasms for additional molecular abnormalities using the OncoScan™ CNV Plus Assay, which is used for clinical use as a whole-genome copy number microarray-based assay. Ten of eleven cases demonstrated deletion of the RB1 gene with varying deletion size and breakpoints. The majority of additional genetic alterations were chromosomal losses and loss of heterozygosity with rare chromosomal gains. Although only a small subset of mesenchymal neoplasms was evaluated, the principle of creating a novel pairing of the molecular method with the tumor type represents a promising avenue for further study in a variety of tumors.


Assuntos
Neoplasias de Tecido Conjuntivo e de Tecidos Moles/genética , Proteínas de Ligação a Retinoblastoma/genética , Ubiquitina-Proteína Ligases/genética , Adulto , Idoso , Feminino , Deleção de Genes , Humanos , Masculino , Análise em Microsséries/métodos , Pessoa de Meia-Idade
5.
Cell Commun Signal ; 17(1): 24, 2019 03 18.
Artigo em Inglês | MEDLINE | ID: mdl-30885209

RESUMO

BACKGROUND: Epithelial-to-mesenchymal transition (EMT) results in changes that promote de-differentiation, migration, and invasion in non-small cell lung cancer (NSCLC). While it is recognized that EMT promotes altered energy utilization, identification of metabolic pathways that link EMT with cancer progression is needed. Work presented here indicates that mesenchymal NSCLC upregulates glutamine-fructose-6-phosphate transaminase 2 (GFPT2). GFPT2 is the rate-limiting enzyme in the synthesis of uridine diphosphate N-acetylglucosamine (UDP-GlcNAc). UDP-GlcNAc is the obligate activator of O-linked N-acetylglucosamine transferase (OGT). METHODS: Analysis of our transcriptomic data indicates that GFPT2 is one of the most significantly upregulated metabolic genes in mesenchymal NSCLC. Ectopic GFPT2 expression, as well as gene silencing strategies were used to determine the importance of this metabolic enzyme in regulating EMT-driven processes of cell motility and invasion. RESULTS: Our work demonstrates that GFPT2 is transcriptionally upregulated by NF-κB and repressed by the NAD+-dependent deacetylase SIRT6. Depletion of GFPT2 expression in NSCLC highlights its importance in regulating cell migration and invasion during EMT. CONCLUSIONS: Consistent with GFPT2 promoting cancer progression, we find that elevated GFPT2 expression correlates with poor clinical outcome in NSCLC. Modulation of GFPT2 activity offers a potentially important therapeutic target to combat NSCLC disease progression.


Assuntos
Carcinoma Pulmonar de Células não Pequenas/patologia , Glutamina-Frutose-6-Fosfato Transaminase (Isomerizante)/metabolismo , Neoplasias Pulmonares/patologia , NF-kappa B/metabolismo , Sirtuínas/metabolismo , Células A549 , Carcinoma Pulmonar de Células não Pequenas/genética , Movimento Celular , Regulação Neoplásica da Expressão Gênica , Células HEK293 , Humanos , Neoplasias Pulmonares/genética , Transdução de Sinais , Ativação Transcricional
6.
Per Med ; 15(3): 199-208, 2018 05 01.
Artigo em Inglês | MEDLINE | ID: mdl-29843583

RESUMO

Genomic medicine is transforming patient care. However, the speed of development has left a knowledge gap between discovery and effective implementation into clinical practice. Since 2010, the Training Residents in Genomics (TRIG) Working Group has found success in building a rigorous genomics curriculum with implementation tools aimed at pathology residents in postgraduate training years 1-4. Based on the TRIG model, the interprofessional Undergraduate Training in Genomics (UTRIG) Working Group was formed. Under the aegis of the Undergraduate Medical Educators Section of the Association of Pathology Chairs and representation from nine additional professional societies, UTRIG's collaborative goal is building medical student genomic literacy through development of a ready-to-use genomics curriculum. Key elements to the UTRIG curriculum are expert consensus-driven objectives, active learning methods, rigorous assessment and integration.


Assuntos
Educação de Graduação em Medicina/métodos , Genômica/educação , Currículo , Humanos , Modelos Educacionais , Médicos , Aprendizagem Baseada em Problemas , Estudantes de Medicina
7.
Ann Diagn Pathol ; 26: 10-15, 2017 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-28038705

RESUMO

Cyclin D1 protein expression in lymphocytes is classically associated with mantle cell lymphoma. Although increasingly recognized in other lymphoproliferative disorders, cyclin D1 expression and CCND1 gene abnormalities have not been well studied in nodular lymphocyte-predominant Hodgkin lymphoma (NLPHL). Using a double stain for CD20/cyclin D1, we quantified cyclin D1 expression in 10 cases of NLPHL and correlated those findings with SOX11 expression, CCND1 gene abnormalities, and clinical data. For comparison, we examined 5 cases of T cell-/histiocyte-rich large B-cell lymphoma (THRLBCL). All cases of NLPHL stained for cyclin D1 showed at least rare positivity in lymphocyte-predominant (LP) cells. In 4 cases, at least 20% of LP cells were positive for CD20/cyclin D1. Neither SOX11 expression nor CCND1 gene rearrangement was found in any of the cases, but fluorescence in situ hybridization showed a proportion of the large cells with 3 to 4 copies of nonfused IGH and CCND1 signals or 3 intact CCND1 break-apart signals. Further study with CCND1/CEP11 showed polysomy in 6 of 9 cases with cyclin D1 expression and 5 of 16 NLPHL not examined for cyclin D1. Two of 5 cases of THRLBCL showed rare positive staining for CD20/cyclin D1; 1 case showed polysomy with CCND1/CEP11. Results show that cyclin D1 may be expressed in LP cells without SOX11 expression or CCND1 translocation. Polysomy with increased copies of CCND1 may account for cyclin D1 expression in some cases. Cyclin D1 expression is not useful for distinguishing NLPHL from THRLBCL and has no apparent clinical significance in NLPHL.


Assuntos
Biomarcadores Tumorais/metabolismo , Ciclina D1/metabolismo , Doença de Hodgkin/metabolismo , Doença de Hodgkin/patologia , Linfócitos/patologia , Adolescente , Adulto , Idoso , Idoso de 80 Anos ou mais , Criança , Feminino , Humanos , Imuno-Histoquímica/métodos , Imunofenotipagem/métodos , Hibridização in Situ Fluorescente/métodos , Linfoma Difuso de Grandes Células B/metabolismo , Linfoma Difuso de Grandes Células B/patologia , Linfoma de Célula do Manto/metabolismo , Linfoma de Célula do Manto/patologia , Masculino , Pessoa de Meia-Idade , Adulto Jovem
8.
Ann Plast Surg ; 76(5): 485-8, 2016 May.
Artigo em Inglês | MEDLINE | ID: mdl-27070347

RESUMO

INTRODUCTION: Despite the widespread adaptation of acellular dermal matrix (ADM) to breast reconstruction, we are just now exploring how these materials integrate and perform in vivo. The goal of this study was to compare the histological characteristics between expander capsules to an area without the ADM. METHODS: Women undergoing implant-based breast reconstruction at the University of Virginia Health System using a decellularized regenerative dermal matrix were enrolled in this prospective, evaluator-blinded, institutional review board-approved study. Twenty-four non-ADM and 24 ADM breast capsule biopsy specimens were collected from 15 women and analyzed for the histological parameters of inflammation, vascular proliferation, capsule fibrosis, foreign body giant cell inflammatory reaction, and myofibroblasts using a previously described semiquantitative scoring system. The pathologist evaluating the specimens was blinded to the tissue source and biopsy location. RESULTS: There was significantly less inflammation and fewer myofibroblasts in the ADM capsule biopsy samples compared with the no-ADM capsule biopsy samples (inflammation: ADM, 0.83; no-ADM, 1.83; P = 0.001; myofibroblasts: ADM, 0.79; no-ADM, 1.46; P = 0.024). Significantly less vascular proliferation in the ADM samples was seen compared with the no-ADM samples (ADM, 0.75; no-ADM, 1.42; P = 0.036). No statistical difference in the presence of an inflammatory capsule was observed in the no-ADM biopsy samples compared with the ADM capsule biopsy samples (P = 0.060). CONCLUSIONS: When used for staged breast reconstruction, this unique, sterile ADM seems to induce less inflammation. Moreover, the significantly decreased presence of myofibroblasts in this material supports the observed clinical findings of decreased capsular contracture in ADM-assisted breast reconstruction.


Assuntos
Derme Acelular , Implante Mamário/métodos , Mama/patologia , Reação a Corpo Estranho/patologia , Complicações Pós-Operatórias/patologia , Adulto , Idoso , Biópsia , Mama/cirurgia , Feminino , Reação a Corpo Estranho/etiologia , Humanos , Pessoa de Meia-Idade , Complicações Pós-Operatórias/etiologia , Estudos Prospectivos , Método Simples-Cego
9.
Adv Health Sci Educ Theory Pract ; 21(2): 389-99, 2016 May.
Artigo em Inglês | MEDLINE | ID: mdl-26363626

RESUMO

Success in residency matching is largely contingent upon standardized exam scores. Identifying predictors of standardized exam performance could promote primary intervention and lead to design insights for preclinical courses. We hypothesized that clinically relevant courses with an emphasis on higher-order cognitive understanding are most strongly associated with performance on United States Medical Licensing Examination Step exams and National Board of Medical Examiners clinical subject exams. Academic data from students between 2007 and 2012 were collected. Preclinical course scores and standardized exam scores were used for statistical modeling with multiple linear regression. Preclinical courses were categorized as having either a basic science or a clinical knowledge focus. Medical College Admissions Test scores were included as an additional predictive variable. The study sample comprised 795 graduating medical students. Median score on Step 1 was 234 (interquartile range 219-245.5), and 10.2 % (81/795) scored lower than one standard deviation below the national average (205). Pathology course score was the strongest predictor of performance on all clinical subject exams and Step exams, outperforming the Medical College Admissions Test in strength of association. Using Pathology score <75 as a screening metric for Step 1 score <205 results in sensitivity and specificity of 37 and 97 %, respectively, and a likelihood ratio of 11.9. Performance in Pathology, a clinically relevant course with case-based learning, is significantly related to subsequent performance on standardized exams. Multiple linear regression is useful for identifying courses that have potential as risk stratifiers.


Assuntos
Teste de Admissão Acadêmica/estatística & dados numéricos , Educação de Graduação em Medicina/estatística & dados numéricos , Avaliação Educacional/estatística & dados numéricos , Licenciamento em Medicina/estatística & dados numéricos , Estudantes de Medicina/estatística & dados numéricos , Logro , Feminino , Humanos , Masculino , Modelos Estatísticos , Estudos Retrospectivos
10.
Skeletal Radiol ; 44(4): 587-95, 2015 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-25256753

RESUMO

We report two children with lymphoma of bone centered in the distal femoral epiphysis who presented with knee pain. Radiographs, magnetic resonance imaging (MRI) and computed tomography (CT) were performed on both patients prior to biopsy. Following biopsy, both patients had fluorodeoxyglucose ((18) F-FDG) positron emission tomography/CT (PET/CT) and whole-body technetium-99m (Tc-99m) scintigraphy performed for staging. One patient met the criteria for primary lymphoma of bone. One patient did not meet the criteria for primary lymphoma of bone because of PET uptake in a popliteal, external iliac and possibly lower abdominal node. Both patients responded well to chemotherapy and are disease free more than 7 years after diagnosis. While an epiphyseal presentation of lymphoma of bone is rare, the efficacy of treatment and the compromised outcome associated with diffuse spread of the disease make early recognition by clinicians important. We present these two cases to increase awareness of the disease and to have clinicians consider it in the differential diagnosis of adolescent epiphyseal lesions.


Assuntos
Fêmur/diagnóstico por imagem , Linfoma não Hodgkin/diagnóstico por imagem , Adolescente , Biópsia , Criança , Diagnóstico Diferencial , Epífises/diagnóstico por imagem , Epífises/patologia , Fêmur/patologia , Fluordesoxiglucose F18 , Humanos , Joelho/diagnóstico por imagem , Linfoma/diagnóstico por imagem , Linfoma/tratamento farmacológico , Linfoma não Hodgkin/tratamento farmacológico , Masculino , Tomografia por Emissão de Pósitrons , Tomografia Computadorizada por Raios X , Resultado do Tratamento
11.
Head Neck Pathol ; 9(1): 85-95, 2015 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-25078757

RESUMO

The recently described mammary analogue secretory carcinoma (MASC) is a low-grade salivary gland malignancy that harbors the recurrent cytogenetic abnormality t(12;15) (p13;q25) ETV6-NTRK3. Confirmation of this is currently considered the gold standard for diagnosis. Some have postulated that morphology together with supporting immunohistochemistry is sufficient to diagnose MASC. In this study we retrospectively review a series of 19 MASCs diagnosed based on histology in conjunction with immunohistochemistry; subsequently we performed in situ hybridization using an ETV6 break-apart probe. Immunohistochemistry for S100 protein and mammaglobin as well as fluorescence in situ hybridization using the Vysis ETV6 Dual Color Break-Apart FISH Probe Kit were performed on all cases. The 19 cases were from 12 females and 7 males with ages ranging from 16 to 76 years (mean = 45 years). Sixteen cases were from the parotid gland, 1 case was from a periparotid lymph node and 2 cases were from the submandibular gland. All 19 cases demonstrated moderate to strong expression of S100 protein. Eighteen cases demonstrated strong, diffuse expression of mammaglobin, while one case had only rare tumor cells that strongly expressed mammaglobin. Eighteen of 19 cases (95 %) demonstrated the ETV6 rearrangement by fluorescence in situ hybridization. Given that morphology together with immunohistochemistry is highly correlated with the ETV6 gene rearrangement, we conclude that molecular confirmation is not required to diagnose MASC.


Assuntos
Imuno-Histoquímica/métodos , Carcinoma Secretor Análogo ao Mamário/diagnóstico , Neoplasias das Glândulas Salivares/diagnóstico , Adolescente , Adulto , Idoso , Feminino , Humanos , Hibridização in Situ Fluorescente , Masculino , Carcinoma Secretor Análogo ao Mamário/genética , Pessoa de Meia-Idade , Proteínas de Fusão Oncogênica/análise , Proteínas de Fusão Oncogênica/genética , Estudos Retrospectivos , Neoplasias das Glândulas Salivares/genética , Adulto Jovem
12.
Genes Dev ; 28(14): 1578-91, 2014 Jul 15.
Artigo em Inglês | MEDLINE | ID: mdl-25030697

RESUMO

Lineage or cell of origin of cancers is often unknown and thus is not a consideration in therapeutic approaches. Alveolar rhabdomyosarcoma (aRMS) is an aggressive childhood cancer for which the cell of origin remains debated. We used conditional genetic mouse models of aRMS to activate the pathognomonic Pax3:Foxo1 fusion oncogene and inactivate p53 in several stages of prenatal and postnatal muscle development. We reveal that lineage of origin significantly influences tumor histomorphology and sensitivity to targeted therapeutics. Furthermore, we uncovered differential transcriptional regulation of the Pax3:Foxo1 locus by tumor lineage of origin, which led us to identify the histone deacetylase inhibitor entinostat as a pharmacological agent for the potential conversion of Pax3:Foxo1-positive aRMS to a state akin to fusion-negative RMS through direct transcriptional suppression of Pax3:Foxo1.


Assuntos
Antineoplásicos/farmacologia , Benzamidas/farmacologia , Piridinas/farmacologia , Rabdomiossarcoma Alveolar/patologia , Animais , Linhagem Celular Tumoral , Linhagem da Célula , Modelos Animais de Doenças , Epigênese Genética/efeitos dos fármacos , Proteína Forkhead Box O1 , Fatores de Transcrição Forkhead/metabolismo , Regulação Neoplásica da Expressão Gênica/efeitos dos fármacos , Humanos , Camundongos , Fator de Transcrição PAX3 , Fatores de Transcrição Box Pareados/metabolismo , Proteína Supressora de Tumor p53/metabolismo
13.
Nat Commun ; 5: 3273, 2014.
Artigo em Inglês | MEDLINE | ID: mdl-24549417

RESUMO

The cell of origin and triggering events for leukaemia are mostly unknown. Here we show that the bone marrow contains a progenitor that expresses renin throughout development and possesses a B-lymphocyte pedigree. This cell requires RBP-J to differentiate. Deletion of RBP-J in these renin-expressing progenitors enriches the precursor B-cell gene programme and constrains lymphocyte differentiation, facilitated by H3K4me3 activating marks in genes that control the pre-B stage. Mutant cells undergo neoplastic transformation, and mice develop a highly penetrant B-cell leukaemia with multi-organ infiltration and early death. These renin-expressing cells appear uniquely vulnerable as other conditional models of RBP-J deletion do not result in leukaemia. The discovery of these unique renin progenitors in the bone marrow and the model of leukaemia described herein may enhance our understanding of normal and neoplastic haematopoiesis.


Assuntos
Células da Medula Óssea/metabolismo , Proteína de Ligação a Sequências Sinal de Recombinação J de Imunoglobina/metabolismo , Leucemia de Células B/etiologia , Leucemia Experimental/etiologia , Renina/metabolismo , Adulto , Idoso , Idoso de 80 Anos ou mais , Animais , Medula Óssea/patologia , Células da Medula Óssea/patologia , Epigênese Genética , Feminino , Hematopoese , Humanos , Proteína de Ligação a Sequências Sinal de Recombinação J de Imunoglobina/genética , Leucemia de Células B/metabolismo , Leucemia de Células B/patologia , Leucemia Experimental/metabolismo , Leucemia Experimental/patologia , Masculino , Camundongos , Camundongos Transgênicos , Pessoa de Meia-Idade , Baço/patologia , Adulto Jovem
14.
Mod Pathol ; 27(9): 1267-80, 2014 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-24481001

RESUMO

The pathogenesis of cystic nephroma of the kidney has interested pathologists for over 50 years. Emerging from its initial designation as a type of unilateral multilocular cyst, cystic nephroma has been considered as either a developmental abnormality or a neoplasm or both. Many have viewed cystic nephroma as the benign end of the pathologic spectrum with cystic partially differentiated nephroblastoma and Wilms tumor, whereas others have considered it a mixed epithelial and stromal tumor. We hypothesize that cystic nephroma, like the pleuropulmonary blastoma in the lung, represents a spectrum of abnormal renal organogenesis with risk for malignant transformation. Here we studied DICER1 mutations in a cohort of 20 cystic nephromas and 6 cystic partially differentiated nephroblastomas, selected independently of a familial association with pleuropulmonary blastoma and describe four cases of sarcoma arising in cystic nephroma, which have a similarity to the solid areas of type II or III pleuropulmonary blastoma. The genetic analyses presented here confirm that DICER1 mutations are the major genetic event in the development of cystic nephroma. Further, cystic nephroma and pleuropulmonary blastoma have similar DICER1 loss of function and 'hotspot' missense mutation rates, which involve specific amino acids in the RNase IIIb domain. We propose an alternative pathway with the genetic pathogenesis of cystic nephroma and DICER1-renal sarcoma paralleling that of type I to type II/III malignant progression of pleuropulmonary blastoma.


Assuntos
RNA Helicases DEAD-box/genética , Neoplasias Renais/genética , Mutação de Sentido Incorreto , Segunda Neoplasia Primária/genética , Doenças Renais Policísticas/genética , Ribonuclease III/genética , Sarcoma/genética , Tumor de Wilms/genética , Adolescente , Biomarcadores Tumorais/metabolismo , Criança , Pré-Escolar , Feminino , Humanos , Imuno-Histoquímica , Lactente , Neoplasias Renais/metabolismo , Neoplasias Renais/patologia , Masculino , Segunda Neoplasia Primária/metabolismo , Segunda Neoplasia Primária/patologia , Doenças Renais Policísticas/metabolismo , Doenças Renais Policísticas/patologia , Sarcoma/metabolismo , Sarcoma/patologia , Tumor de Wilms/metabolismo , Tumor de Wilms/patologia , Adulto Jovem
17.
J Am Soc Cytopathol ; 3(4): 183-187, 2014.
Artigo em Inglês | MEDLINE | ID: mdl-31051684

RESUMO

Educational evolution is particularly important in pathology, particularly cytopathology, due to the vast amounts of independent learning required to master this field. In this study, learning challenges faced by pathology residents were addressed through a variety of educational modalities including 24 short (∼10 minute) online tutorials (dubbed "Sound Bites") covering selected topics in cytopathology as well as other areas of anatomic and clinical pathology. Additionally, residents were provided with an annotated glass slide set covering pediatric pathology with an associated multiple choice self-assessment as well as multiheaded microscope slide review sessions. Use of these modalities was tracked and residents surveyed about their experiences using them. All 20 residents (100%) reported using Sound Bites either from work computers, home computers, or mobile devices. Residents reported that easy accessibility, brevity, and opportunities for self-assessment were important variables contributing to this use, and that Sound Bite use would make them more likely to benefit from in-person teaching through lectures and/or slide sessions. Within 12 months of the release of the first Sound Bite, individual Sound Bites were accessed a total of 1169 times (mean: 49 times per Sound Bite). In contrast, slide sets were only accessed about once a month and were only employed by 30% of residents (6 of 20) for independent study; only 20% (4 of 20) completed the accompanying multiple choice self-assessment. All residents attended multiheaded microscope slide review sessions. Whereas traditional educational methods remain valuable tools in pathology education, these data suggest that short, web-based tutorials represent a valuable adjuvant teaching tool.

18.
Am J Surg Pathol ; 37(4): 571-8, 2013 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-23426124

RESUMO

The Ewing sarcoma breakpoint region 1 (EWSR1) is translocated in many sarcomas. Recently, its rearrangement has been described in salivary gland hyalinizing clear cell carcinomas (HCCCs) and in a subset of soft tissue myoepitheliomas. This study examines the presence of the EWSR1 rearrangement in a variety of salivary gland lesions including classic myoepitheliomas and HCCCs. Using a tissue microarray and whole-mount sections, fluorescence in situ hybridization (FISH) was performed on a variety of salivary gland lesions including HCCCs. The EWSR1 rearrangement was detected in 87% of HCCCs (13 of 15); all other salivary gland lesions including classic myoepitheliomas had intact EWSR1. Patients with HCCCs with rearranged EWSR1 included 1 man, 10 women, and 2 of unknown sex. Ages ranged from 35 to 83 years; the tumor size ranged from 0.8 to 5.5 cm, and the involved locations included: palate (2), base of the tongue (2), mandible (2), submandibular gland (2), lip (1), floor of the mouth (1), sublingual gland (1), inner cheek (1), and nasopharynx (1). All HCCCs were composed of sheets and nests of monotonous cells with clear cytoplasm within a hyalinized stroma. All tested cases were immunoreactive with antibodies to p63 and were nonreactive with antibodies to more conventional myoepithelial antigens (e.g., smooth muscle actin and S100 protein). These findings show that the EWSR1 rearrangement is almost a defining feature of HCCCs and also confirm that classic salivary gland myoepitheliomas are distinct from these tumors and do not share a pathogenetic relationship with their soft tissue counterparts.


Assuntos
Adenocarcinoma de Células Claras/genética , Proteínas de Ligação a Calmodulina/genética , Rearranjo Gênico , Mioepitelioma/genética , Proteínas de Ligação a RNA/genética , Neoplasias das Glândulas Salivares/genética , Adenocarcinoma de Células Claras/metabolismo , Adenocarcinoma de Células Claras/secundário , Adulto , Idoso , Idoso de 80 Anos ou mais , Terapia Combinada , DNA de Neoplasias/análise , Feminino , Humanos , Hialina/metabolismo , Hibridização in Situ Fluorescente , Metástase Linfática , Masculino , Pessoa de Meia-Idade , Mioepitelioma/metabolismo , Mioepitelioma/secundário , Proteína EWS de Ligação a RNA , Neoplasias das Glândulas Salivares/metabolismo , Neoplasias das Glândulas Salivares/patologia
19.
Pediatr Dev Pathol ; 16(1): 35-8, 2013.
Artigo em Inglês | MEDLINE | ID: mdl-23113671

RESUMO

Spindle cell rhabdomyosarcoma is an uncommon subtype of embryonal rhabdomyosarcoma. Found almost exclusively in children, these tumors are classically located in the paratesticular and head and neck regions. Morphologically these lesions can resemble several other benign or malignant soft-tissue spindle cell lesions, especially smooth muscle or myofibroblastic tumors, and thus immunohistochemical staining is often needed to prove skeletal muscle differentiation. Although there is extensive literature reporting the genetics of embryonal rhabdomyosarcoma, little is reported specific to the spindle cell subtype. Below we present the case of a 7-month-old male presenting with a large posterior neck mass that was diagnosed as spindle cell rhabdomyosarcoma. Karyotype evaluation revealed a t(6;8) (p12;q11.2) chromosomal translocation within the lesion. We review the histologic and immunohistochemical diagnosis of these tumors and discuss the genetics of rhabdomyoscarcomas.


Assuntos
Cromossomos Humanos Par 6/genética , Cromossomos Humanos Par 8/genética , Neoplasias de Cabeça e Pescoço/genética , Rabdomiossarcoma Embrionário/genética , Neoplasias de Tecidos Moles/genética , Cariótipo Anormal , Neoplasias de Cabeça e Pescoço/patologia , Humanos , Imuno-Histoquímica , Lactente , Masculino , Rabdomiossarcoma Embrionário/patologia , Neoplasias de Tecidos Moles/patologia , Translocação Genética
20.
Am J Surg Pathol ; 36(9): 1410-4, 2012 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-22895274

RESUMO

We describe a primary ovarian neoplasm, occurring in a 15-year-old female patient, with morphologic, immunohistochemical, and molecular genetic features identical to those of the very rare tumors of the kidney previously described as "melanotic Xp11 translocation renal cancer." This represents, to the best of our knowledge, the first report of a melanotic Xp11 translocation-associated neoplasm arising outside of the kidney. We discuss the relationship of these rare tumors to neoplasms showing perivascular epithelioid cell differentiation, in particular those showing TFE3 rearrangements.


Assuntos
Biomarcadores Tumorais/genética , Cromossomos Humanos X/genética , Melanoma/genética , Neoplasias Ovarianas/genética , Translocação Genética , Adolescente , Biomarcadores Tumorais/metabolismo , DNA de Neoplasias/análise , Intervalo Livre de Doença , Feminino , Humanos , Hibridização in Situ Fluorescente , Melanoma/metabolismo , Melanoma/patologia , Neoplasias Ovarianas/metabolismo , Neoplasias Ovarianas/patologia , Ovariectomia
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