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1.
Genes Dev ; 35(7-8): 512-527, 2021 04 01.
Artigo em Inglês | MEDLINE | ID: mdl-33766982

RESUMO

Epithelioid hemangioendothelioma (EHE) is a genetically homogenous vascular sarcoma that is a paradigm for TAZ dysregulation in cancer. EHE harbors a WWTR1(TAZ)-CAMTA1 gene fusion in >90% of cases, 45% of which have no other genetic alterations. In this study, we used a first of its kind approach to target the Wwtr1-Camta1 gene fusion to the Wwtr1 locus, to develop a conditional EHE mouse model whereby Wwtr1-Camta1 is controlled by the endogenous transcriptional regulators upon Cre activation. These mice develop EHE tumors that are indistinguishable from human EHE clinically, histologically, immunohistochemically, and genetically. Overall, these results demonstrate unequivocally that TAZ-CAMTA1 is sufficient to drive EHE formation with exquisite specificity, as no other tumor types were observed. Furthermore, we fully credential this unique EHE mouse model as a valid preclinical model for understanding the role of TAZ dysregulation in cancer formation and for testing therapies directed at TAZ-CAMTA1, TAZ, and YAP/TAZ signaling.


Assuntos
Proteínas Adaptadoras de Transdução de Sinal/metabolismo , Proteínas de Ligação ao Cálcio/metabolismo , Carcinogênese/genética , Modelos Animais de Doenças , Fusão Gênica , Hemangioendotelioma Epitelioide/genética , Hemangioendotelioma Epitelioide/patologia , Transativadores/metabolismo , Proteínas Adaptadoras de Transdução de Sinal/genética , Animais , Proteínas de Ligação ao Cálcio/genética , Humanos , Camundongos , Transdução de Sinais/genética , Transativadores/genética
2.
Hum Mol Genet ; 29(22): 3679-3690, 2021 01 21.
Artigo em Inglês | MEDLINE | ID: mdl-33326033

RESUMO

Adrenocortical Carcinoma (ACC) is a rare endocrine tumor with poor overall prognosis and 1.5-fold overrepresentation in females. In children, ACC is associated with inherited cancer syndromes with 50-80% of childhood-ACC associated with TP53 germline variants. ACC in adolescents and young adults (AYA) is rarely due to germline TP53, IGF2, PRKAR1A and MEN1 variants. We analyzed exome sequencing data from 21 children (<15y), 32 AYA (15-39y), and 60 adults (>39y) with ACC, and retained all pathogenic, likely pathogenic, and highly prioritized variants of uncertain significance. We engineered a stable lentiviral-mutant ACC cell line, harboring an EGFR variant (p.Asp1080Asn) from a 21-year-old female without germline-TP53-variant and with aggressive ACC. We found that 4.8% of the children (P = 0.004) and 6.2% of AYA (P < 0.0001), all-female participants, harbored germline EGFR variants, compared to only 0.3% of the control group. Expanding our analysis to the RTK-RAS-MAPK pathway, we found that the RTK genes have the highest number of highly prioritized germline variants in these individuals amongst all three arms of this pathway. We showed EGFR mutant cells migrate faster and are characterized by a stem-like phenotype compared to wild type cells. While EGFR inhibitors did not affect the stemness of mutant cells, Sunitinib, a multireceptor tyrosine kinase inhibitor, significantly reduced their stem-like behavior. Our data suggest that EGFR could be a novel underlying germline predisposition factor for ACC, especially in the Childhood-AYA (C-AYA) population. Further clinical validation can improve precision oncology management of this disease, which is known to have limited therapeutic options.


Assuntos
Carcinoma Adrenocortical/genética , Predisposição Genética para Doença , Proteína Supressora de Tumor p53/genética , Adolescente , Carcinoma Adrenocortical/patologia , Adulto , Receptores ErbB/genética , Feminino , Regulação Neoplásica da Expressão Gênica/genética , Genótipo , Mutação em Linhagem Germinativa/genética , Humanos , Masculino , Pessoa de Meia-Idade , Fenótipo , Medicina de Precisão , Sequenciamento do Exoma , Adulto Jovem , Proteínas ras/genética
3.
Ann Surg ; 275(1): e238-e244, 2022 01 01.
Artigo em Inglês | MEDLINE | ID: mdl-32541223

RESUMO

OBJECTIVE: The aim of this study was to analyze the incidence of and risk factors for adrenocortical carcinoma (ACC) in adrenal incidentaloma (AI). SUMMARY OF BACKGROUND DATA: AI guidelines are based on data obtained with old-generation imaging and predominantly use tumor size to stratify risk for ACC. There is a need to analyze the incidence and risk factors from a contemporary series. METHODS: This is a retrospective review of 2219 AIs that were either surgically removed or nonoperatively monitored for ≥12 months between 2000 and 2017. Multivariate logistic regression was performed to define risk factors. ROC curves constructed to determine optimal size and attenuation cut-offs for ACC. RESULTS: 16.8% of AIs underwent upfront surgery and rest initial nonoperative management. Of conservatively managed patients, an additional 7.7% subsequently required adrenalectomy. Overall, ACC incidence in AI was 1.7%. ACC rates by size were 0.1%, 2.4%, and 19.5% for AIs of <4, 4 to 6, and >6 cm, respectively. The optimal size cut-off for ACC in AI was 4.6 cm. ACC risks by Hounsfield density were 0%, 0.5%, and 6.3% for lesions of <10, 10 to 20, and >20 HU, with an optimal cut-off of 20 HU to diagnose ACC. 15.5% of all AIs and 19.2% of ACCs were hormonally active. Male sex, large tumor size, high Hounsfield density, and >0.6 cm/year growth were independent risk factors for ACC. CONCLUSION: This contemporary analysis demonstrates that ACC risk per size in AI is less than previously reported. Given these findings, modern management of AIs should not be based just on size, but a combination of thorough hormonal evaluation and imaging characteristics.


Assuntos
Neoplasias das Glândulas Suprarrenais/epidemiologia , Estadiamento de Neoplasias/métodos , Medição de Risco/métodos , Neoplasias das Glândulas Suprarrenais/diagnóstico , Feminino , Seguimentos , Humanos , Incidência , Masculino , Pessoa de Meia-Idade , Ohio/epidemiologia , Prognóstico , Curva ROC , Estudos Retrospectivos , Fatores de Risco , Taxa de Sobrevida/tendências , Tomografia Computadorizada por Raios X
4.
Int J Mol Sci ; 23(3)2022 Jan 31.
Artigo em Inglês | MEDLINE | ID: mdl-35163571

RESUMO

The Papanicolaou Society of Cytopathology (PSC) reporting system classifies pancreatobiliary samples into six categories (I-VI), providing guidance for personalized management. As the World Health Organization (WHO) has been preparing an updated reporting system for pancreatobiliary cytopathology, this systematic review aimed to evaluate the risk of malignancy (ROM) of each PSC category, also the sensitivity and specificity of pancreatic FNA cytology using the current PSC system. Five databases were investigated with a predefined search algorithm. Inclusion and exclusion criteria were applied to select the eligible studies for subsequent data extraction. A study quality assessment was also performed. Eight studies were included in the qualitative analysis. The ROM of the PSC categories I, II, III, IV, V, VI were in the ranges of 8-50%, 0-40%, 28-100%, 0-31%, 82-100%, and 97-100%, respectively. Notably, the ROM IVB ("neoplastic-benign") subcategory showed a 0% ROM. Four of the included studies reported separately the ROMs for the IVO subcategory ("neoplastic-other"; its overall ROM ranged from 0 to 34%) with low (LGA) and high-grade atypia (HGA). ROM for LGA ranged from 4.3 to 19%, whereas ROM for HGA from 64 to 95.2%. When the subcategory IVO with HGA was considered as cytologically positive, together with the categories V and VI, there was a higher sensitivity of pancreatic cytology, at minimal expense of the specificity. Evidence suggests the proposed WHO international system changes-shifting the IVB entities into the "benign/negative for malignancy" category and establishing two new categories, the "pancreatic neoplasm, low-risk/grade" and "pancreatic neoplasm, high-risk/grade"-could stratify pancreatic neoplasms more effectively than the current PSC system.


Assuntos
Citodiagnóstico , Pâncreas/patologia , Neoplasias Pancreáticas/patologia , Sociedades Médicas , Humanos , Gradação de Tumores , Medição de Risco , Organização Mundial da Saúde
5.
J Intensive Care Med ; 36(5): 604-611, 2021 May.
Artigo em Inglês | MEDLINE | ID: mdl-33375893

RESUMO

BACKGROUND: Patients with COVID-19 and ARDS on prolonged mechanical ventilation are at risk for developing endotracheal tube (ETT) obstruction that has not been previously described in patients with ARDS due to other causes. The purpose of this report is to describe a case series of patients with COVID-19 and ARDS in which ETT occlusion resulted in significant clinical consequences and to define the pathology of the obstructing material. METHODS: Incidents of ETT occlusion during mechanical ventilation of COVID-19 patients were reported by clinicians and retrospective chart review was conducted. Statistical analysis was performed comparing event rates between COVID-19 and non-COVID 19 patients on mechanical ventilation over the predefined period. Specimens were collected and submitted for pathological examination. FINDINGS: Eleven COVID-19 patients experienced endotracheal tube occlusion over a period of 2 months. Average age was 69 (14.3, range 33-85) years. Mean APACHE III score was 73.6 (17.3). All patients had AKI and cytokine storm. Nine exhibited biomarkers for hypercoagulability. Average days on mechanical ventilation before intervention for ETT occlusion was 14 (5.18) days (range of 9 to 23 days). Five patients were discharged from the ICU, and 4 expired. Average documented airway resistance on admission was 14.2 (3.0) cm H2O/L/sec. Airway resistance before tube exchange was 28.1 (8.0) cm H2O /L/sec. No similar events of endotracheal tube occlusion were identified in non-COVID patients on mechanical ventilation during the same time period. Microscopically, the material consisted of mucin admixed with necrotic cell debris, variable numbers of degenerated inflammatory cells, oral contaminants and red blood cells. INTERPRETATION: Patients with COVID-19 and ARDS on prolonged mechanical ventilation are at risk for developing ETT obstruction due to deposition of a thick, tenacious material within the tube that consists primarily of mucin and cellular debris. Clinicians should be aware of this dangerous but treatable complication.


Assuntos
Obstrução das Vias Respiratórias , COVID-19/complicações , Intubação Intratraqueal , Respiração Artificial , Síndrome do Desconforto Respiratório , APACHE , Idoso , Obstrução das Vias Respiratórias/etiologia , Obstrução das Vias Respiratórias/patologia , Obstrução das Vias Respiratórias/terapia , COVID-19/epidemiologia , COVID-19/terapia , Duração da Terapia , Falha de Equipamento/estatística & dados numéricos , Feminino , Humanos , Intubação Intratraqueal/efeitos adversos , Intubação Intratraqueal/instrumentação , Masculino , Mortalidade , Respiração Artificial/instrumentação , Respiração Artificial/métodos , Respiração Artificial/estatística & dados numéricos , Síndrome do Desconforto Respiratório/etiologia , Síndrome do Desconforto Respiratório/mortalidade , Síndrome do Desconforto Respiratório/terapia , Retratamento/métodos , Retratamento/estatística & dados numéricos , Estudos Retrospectivos , SARS-CoV-2 , Resultado do Tratamento , Estados Unidos/epidemiologia
6.
Semin Diagn Pathol ; 37(4): 174-178, 2020 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-32444243

RESUMO

Germ cell tumors in the mediastinum are rare and often occur in young patients but may occur in older patients. Seminoma, embryonal carcinoma, yolk sac tumor, choriocarcinoma and teratoma have distinct morphologic features with high grade nuclei. They are the primary diagnostic consideration in young males but may be lower on the list in older patients, where they may be misdiagnosed as carcinomas. Review of the history, use of immunohistochemistry stains and recognition of morphologic features will help to make the diagnosis of germ cell tumor of the mediastinum. These tumors have a good to intermediate prognosis, depending on when they are detected.


Assuntos
Neoplasias do Mediastino/diagnóstico , Neoplasias Embrionárias de Células Germinativas/diagnóstico , Biópsia por Agulha Fina , Humanos , Neoplasias do Mediastino/patologia , Neoplasias Embrionárias de Células Germinativas/patologia
7.
Histopathology ; 75(3): 346-353, 2019 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-31012493

RESUMO

AIMS: Intraductal proliferations of the prostate with more complexity and/or cytological atypia than high-grade prostate intra-epithelial neoplasia (HGPIN), but falling short of intraductal carcinoma (IDC-P), are described as 'atypical intraductal proliferation' (AIP). When present in needle biopsy (NBX) without IDC-P, the clinical significance is not known. METHODS AND RESULTS: Sixty-two NBX cases were diagnosed as AIP over 7 years with estimated incidence of 1%. AIP was characterised by loose cribriform architecture (90%) or non-cribriform architecture exhibiting significant nuclear atypia that fell short of IDC-P. Fifty patients had concomitant PCa (20% grade group (GG) 1, 48% GG2, 14% GG3, 8% GG4 and 10% GG 5), and 12 had AIP alone. Of 40 patients who were candidates for no therapy (AIP alone) or active surveillance (AIP with GG1 or GG2 PCa without cribriform pattern 4), 20 had subsequent follow-up pathology [seven NBXs and 13 radical prostatectomy (RP)]. Of the 12 AIP only patients, six had a subsequent biopsy diagnosis of: benign prostate (two), IDC-P with PCa (one) and PCa (three). One or more adverse pathological features at subsequent RP were present in 93% of patients with AIP and GG1 or GG2 PCa, defined as: GG ≥ 3 (15%), IDC-P (77%), cribriform Gleason pattern 4 (69%), pT3a (77%) or pT3b (8%). CONCLUSIONS: AIP in NBX may be a marker of unsampled IDC-P and/or other adverse pathological features in suspected low- to intermediate-risk PCa. AIP should be considered distinct from HGPIN for risk assessment and warrant consideration for further work-up to detect unsampled high-risk PCa.


Assuntos
Neoplasia Prostática Intraepitelial/patologia , Neoplasias da Próstata/patologia , Idoso , Idoso de 80 Anos ou mais , Biópsia por Agulha , Humanos , Masculino , Pessoa de Meia-Idade
8.
Mod Pathol ; 29(2): 122-30, 2016 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-26541273

RESUMO

Sentinel lymph node biopsy is used to stage Merkel cell carcinoma, but its prognostic value has been questioned. Furthermore, predictors of outcome in sentinel lymph node positive Merkel cell carcinoma patients are poorly defined. In breast carcinoma, isolated immunohistochemically positive tumor cells have no impact, but in melanoma they are considered significant. The significance of sentinel lymph node metastasis tumor burden (including isolated tumor cells) and pattern of involvement in Merkel cell carcinoma are unknown. In this study, 64 Merkel cell carcinomas involving sentinel lymph nodes and corresponding immunohistochemical stains were reviewed and clinicopathological predictors of outcome were sought. Five metastatic patterns were identified: (1) sheet-like (n=38, 59%); (2) non-solid parafollicular (n=4, 6%); (3) sinusoidal, (n=11, 17%); (4) perivascular hilar (n=1, 2%); and (5) rare scattered parenchymal cells (n=10, 16%). At the time of follow-up, 30/63 (48%) patients had died with 21 (33%) attributable to Merkel cell carcinoma. Patients with pattern 1 metastases had poorer overall survival compared with patients with patterns 2-5 metastases (P=0.03), with 22/30 (73%) deaths occurring in pattern 1 patients. Three (10%) deaths occurred in patients showing pattern 5, all of whom were immunosuppressed. Four (13%) deaths occurred in pattern 3 patients and 1 (3%) death occurred in a pattern 2 patient. In multivariable analysis, the number of positive sentinel lymph nodes (1 or 2 versus >2, P<0.0001), age (<70 versus ≥70, P=0.01), sentinel lymph node metastasis pattern (patterns 2-5 versus 1, P=0.02), and immune status (immunocompetent versus suppressed, P=0.03) were independent predictors of outcome, and could be used to stratify Stage III patients into three groups with markedly different outcomes. In Merkel cell carcinoma, the pattern of sentinel lymph node involvement provides important prognostic information and utilizing this data with other clinicopathological features facilitates risk stratification of Merkel cell carcinoma patients who may have management implications.


Assuntos
Carcinoma de Célula de Merkel/secundário , Biópsia de Linfonodo Sentinela , Neoplasias Cutâneas/patologia , Idoso , Idoso de 80 Anos ou mais , Biomarcadores Tumorais/análise , Carcinoma de Célula de Merkel/química , Carcinoma de Célula de Merkel/imunologia , Carcinoma de Célula de Merkel/mortalidade , Carcinoma de Célula de Merkel/terapia , Distribuição de Qui-Quadrado , Feminino , Humanos , Hospedeiro Imunocomprometido , Imuno-Histoquímica , Estimativa de Kaplan-Meier , Metástase Linfática , Masculino , Pessoa de Meia-Idade , Análise Multivariada , Estadiamento de Neoplasias , Valor Preditivo dos Testes , Medição de Risco , Fatores de Risco , Neoplasias Cutâneas/química , Neoplasias Cutâneas/imunologia , Neoplasias Cutâneas/mortalidade , Neoplasias Cutâneas/terapia , Fatores de Tempo , Resultado do Tratamento
9.
Gastrointest Endosc ; 81(5): 1215-24, 2015 May.
Artigo em Inglês | MEDLINE | ID: mdl-25660979

RESUMO

BACKGROUND: Peritoneal carcinomatosis (PC) greatly affects cancer staging and resectability. OBJECTIVE: To compare the PC detection rate by using EUS and noninvasive imaging and to determine the impact on staging and resectability. DESIGN: Retrospective study. SETTING: Single tertiary-care referral center. PATIENTS: A prospectively maintained EUS database was reviewed to identify patients who underwent EUS-guided FNA (EUS-FNA) of a peritoneal anomaly. Findings were compared with a strict criterion standard that incorporated cytohistologic, radiologic, and clinical data. INTERVENTION: EUS-FNA of a peritoneal anomaly. MAIN OUTCOME MEASUREMENTS: Safety and diagnostic yield. RESULTS: Of 106 patients, a criterion standard was available in 98 (39 female patients; median age, 65 years). The sensitivity, specificity, and accuracy of EUS-FNA versus CT/magnetic resonance imaging (MRI) was 91% versus 28%, 100% versus 85%, and 94% versus 47%, respectively. In newly diagnosed cancer patients, peritoneal FNA upstaged 17 patients (23.6%). Of 32 patients deemed resectable by pre-EUS CT/MRI, 15 (46.9%) were deemed unresectable based solely on peritoneal FNA. The odds of FNA changing the resectability status remained highly significant after adjustment for cancer type, time between CT/MRI and EUS-FNA, and the quality of CT/MRI. The malignant appearance of the peritoneal anomaly but not the presence of ascites on EUS predicted a positive FNA finding (odds ratio 2.56; 95% confidence interval, 1.23-5.4 and odds ratio 0.83; 95% confidence interval, 0.4-1.8, respectively). There were 3 adverse events among 4 patients. Two of the patients developed abdominal pain and one each hypertensive urgency and pancreatitis. LIMITATIONS: Retrospective design, single-center, bias toward EUS as a diagnostic test. CONCLUSION: Peritoneal EUS-FNA appears to safely detect radiographically occult PC and improve cancer staging and patient care.


Assuntos
Neoplasias Peritoneais/diagnóstico , Idoso , Idoso de 80 Anos ou mais , Aspiração por Agulha Fina Guiada por Ultrassom Endoscópico , Feminino , Humanos , Imageamento por Ressonância Magnética , Masculino , Pessoa de Meia-Idade , Estadiamento de Neoplasias/métodos , Neoplasias Peritoneais/diagnóstico por imagem , Neoplasias Peritoneais/patologia , Estudos Retrospectivos , Tomografia Computadorizada por Raios X
10.
BJU Int ; 116(2): 220-9, 2015 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-25060664

RESUMO

OBJECTIVES: To evaluate if cumulative prostate cancer length (CCL) on prostate needle biopsy divided by the number of biopsy cores (CCL/core) could improve prediction of insignificant cancer on radical prostatectomy (RP) in patients with prostate cancer eligible for active surveillance (AS). PATIENTS AND METHODS: Patients diagnosed with prostate cancer on extended (≥10 cores) biopsy with an initial prostate-specific antigen (iPSA) level of <15 ng/mL, clinical stage (cT) ≤ 2a, and highest biopsy Gleason score 3 + 3 = 6 or 3 + 4 = 7 with <3 positive cores who underwent RP were included in the study. The CCL/core and presence of insignificant cancer (organ-confined, volume <0.5 mL, Gleason score at RP ≤6) were recorded. pT2 prostate cancer with RP Gleason score ≤3 + 4 = 7 and volume <0.5 mL were categorised as low-tumour-volume organ-confined disease (LV-OCD). RESULTS: In all, 221 patients met the inclusion criteria: the mean age was 59 years and the median iPSA level was 4.5 ng/mL. The clinical stage was cT1 in 86% of patients; biopsy Gleason score was 3 + 3 = 6 in 67% (group 1) and 3 + 4 = 7 in 33% of patients (group 2). The maximum percentage of biopsy core involvement was <50 in 85%; the median CCL/core was 0.15 mm. Insignificant cancer was found in 27% and LV-OCD in 44% of patients. Group 2 was associated with higher number of positive cores, maximum percentage core involvement, total prostate cancer length, and CCL/core. Group 1 was more likely to have insignificant cancer (39%) or LV-OCD (54%) than group 2 (3% and 23%, respectively). Group 2 had significantly higher RP Gleason score and pathological stage. Univariate analysis of group 1 showed that the iPSA level, maximum percentage core involvement, prostate cancer length, and CCL/core were all significantly associated with insignificant cancer and LV-OCD. For group 2, the number of positive cores (1 vs 2) was also significantly associated with LV-OCD. On multivariate logistic regression analysis, maximum percentage core involvement of <50, and number of positive cores (1 vs 2) were independent predictors of insignificant cancer in group 1; biopsy Gleason score, maximum percentage core involvement of <50 and prostate cancer length of <3 mm or CCL/core of <0.2 mm were all independent predictors of LV-OCD in the whole population. The maximum percentage of core involvement of <50 and prostate cancer length of <3 mm or CCL/core of <0.2 mm were also independent predictors of LV-OCD in group 1 patients. CONCLUSION: In patients eligible for AS, a CCL/core of <0.20 mm was significantly associated with insignificant cancer and LV-OCD. However, when parameters of cancer burden were considered, CCL/core did not independently add any additional value for predicting insignificant cancer in patients with biopsy Gleason score 6. The CCL/core was an independent predictor of LV-OCD in the whole population and in group 1 patients, although the model including prostate cancer length showed slightly higher area under the receiver operating characteristic curve.


Assuntos
Neoplasias da Próstata/epidemiologia , Neoplasias da Próstata/patologia , Idoso , Biópsia por Agulha , Humanos , Masculino , Pessoa de Meia-Idade , Próstata/patologia , Prostatectomia , Neoplasias da Próstata/cirurgia
11.
J Nucl Cardiol ; 22(4): 840-4, 2015 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-25968627

RESUMO

Cardiac positron emission tomography with fluorine-18 fluorodeoxyglucose (FDG-PET) is often used for the diagnosis of cardiac involvement in sarcoidosis. Areas of segmental perfusion defects coupled with FDG uptake are considered to represent active inflammation. However, these findings may be associated with other inflammatory myocardial diseases. We describe a case of tuberculous myocarditis with imaging findings mimicking those found in cardiac sarcoidosis.


Assuntos
Erros de Diagnóstico/prevenção & controle , Fluordesoxiglucose F18 , Miocardite/diagnóstico por imagem , Tomografia por Emissão de Pósitrons/métodos , Sarcoidose/diagnóstico por imagem , Tuberculose Cardiovascular/diagnóstico por imagem , Diagnóstico Diferencial , Humanos , Masculino , Compostos Radiofarmacêuticos , Adulto Jovem
12.
Ann Diagn Pathol ; 18(3): 187-90, 2014 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-24636963

RESUMO

Endometrial stromal sarcoma (ESS) is an uncommon uterine neoplasm, but its occurrence as an extra-uterine primary (EESS) is exceedingly unusual, and the fine-needle aspiration (FNA) cytopathology of EESS is rarely described. We hereby present 2 women with primary gastric EESS whereby the FNA cytopathology of this rare entity showed a population of cytologically monotonous oval-spindle shaped cells. This cytopathology is correlated with the subsequent histopathology. EESS is another, albeit rare, diagnostic consideration along with gastrointestinal stromal tumor, schwannoma, glomus tumor, and leiomyoma of cytologically bland neoplasms of the stomach that can be encountered using endoscopic ultrasound-guided FNA biopsy.


Assuntos
Neoplasias do Endométrio/patologia , Tumores do Estroma Endometrial/patologia , Sarcoma do Estroma Endometrial/patologia , Neoplasias Gástricas/patologia , Adulto , Biópsia por Agulha Fina , Feminino , Seguimentos , Humanos , Pessoa de Meia-Idade
13.
Diagn Cytopathol ; 52(8): 405-406, 2024 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-38761041

RESUMO

Diversity, equity, and inclusion is a powerful goal which many of us strive toward in medicine, both in patient care and administrative leadership. As the world evolves, the practice of medicine must evolve with it. We are cognizant of the importance of the history of our medical specialties. If we do not acknowledge all parts of our history, we are doomed to repeat it. This special issue is unique and unlike anything that has previously been published in Diagnostic Cytopathology. This issue looks at some of the history of cytopathology. This historical review is followed by some of the present state of cytopathology. There are insights into global cytopathology. The final portion of this issue examines the critical need for cytotechnology schools in the United States. All of these areas are critical to the past, present, and future of cytopathology.


Assuntos
Citodiagnóstico , Humanos , História do Século XXI , História do Século XX , Citodiagnóstico/métodos , Patologia , Estados Unidos , Citologia
14.
Front Cardiovasc Med ; 11: 1345540, 2024.
Artigo em Inglês | MEDLINE | ID: mdl-38357514

RESUMO

Background: The pulsed-electron avalanche knife (PEAK) PlasmaBlade provides an atraumatic, scalpel-like cutting precision and electrocautery-like hemostasis. PlasmaBlade operates near body temperature, and its long, thin, and malleable tip can overcome the limitations of a surgical knife. In this study, we aimed to evaluate our clinical experience and histopathological outcomes of septal myectomy using PlasmaBlade. Methods: Electronic medical records were reviewed for preoperative, operative, and follow-up data of the patients who underwent septal myectomy using PEAK PlasmaBlade at our institute between January 2019 and December 2022. Histopathology of the myectomy specimens was reviewed for the depth of muscle necrosis and compared with the left atrial appendage (LAA) specimen. Results: Twenty-nine patients underwent septal myectomy using the PEAK PlasmaBlade. No mortality was reported. The mean age was 60.6 ± 12.5 years, and 58.6% of patients were male. Peak left ventricular outflow tract (LVOT) gradients were 40.5 ± 34.9 mmHg at rest and 56.5 ± 34.9 mmHg after provocation. Concomitant procedures performed were LAA ligation in 20 (69.0%), aortic valve replacement in 5 (17.2%), and coronary artery bypass grafting in 3 (10.3%) patients. Postoperative complications were complete heart block in one (3.4%) and ventricular septal defect in two (6.9%) patients. Both the ventricular septal defects were identified intraoperatively and repaired. Histopathology of myectomy specimens demonstrated cautery artifact limited to <50 µm depth compared to >1,000 µm with conventional electrocautery. At a mean follow-up of 8.4 ± 10.3 months, the mean LVOT gradient was 4.4 ± 5.8 mmHg at rest and 9.5 ± 3.3 mmHg after provocation. All patients were alive and in New York Heart Association class I/II. No patient developed complications or required reintervention or reoperation. Conclusion: Adequate septal myectomy can be precisely and safely performed using the PEAK PlasmaBlade with minimal collateral damage.

15.
Hum Pathol ; 146: 57-65, 2024 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-38615998

RESUMO

Mucinous tubular and spindle cell carcinoma (MTSCC) shows significant overlap with papillary renal cell carcinoma (PRCC), and harbor recurrent copy-number alterations (CNA). We evaluated 16 RCC with features suggestive of MTSCC using chromosomal microarrays. The cohort was comprised of 8 females and males, each, with an age range of 33-79 years (median, 59), and a tumor size range of 3.4-15.5 cm (median, 5.0). Half the tumors were high-grade (8/16, 50%) with features such as necrosis, marked cytologic atypia, and sarcomatoid differentiation, and 5/16 (31%) were high stage (≥pT3a). Three (of 16, 19%) cases had a predominant (>95%) spindle cell component, whereas 5/16 (31%) were composed of a predominant (>95%) epithelial component. Most cases (12/16, 75%) exhibited a myxoid background and/or extravasated mucin, at least focally. Twelve (of 16, 75%) cases demonstrated CNA diagnostic of MTSCC (losses of chromosomes 1, 4, 6, 8, 9, 13, 14, 15, and 22). In addition, 2 high-grade tumors showed loss of CDKN2A/B, and gain of 1q, respectively, both of which are associated with aggressive behavior. Three (of 16, 19%) cases, demonstrated nonspecific CNA, and did not meet diagnostic criteria for established RCC subtypes. One (of 16, 6%) low-grade epithelial predominant tumor (biopsy) demonstrated characteristic gains of 7, 17, and loss of Y, diagnostic of PRCC. MTSCC can be a morphologically heterogenous tumor. Our study validates the detection of characteristic chromosomal CNA for diagnostic use that may be useful in challenging cases with unusual spindle cell or epithelial predominant features, as well as in high-grade tumors.


Assuntos
Adenocarcinoma Mucinoso , Neoplasias Renais , Polimorfismo de Nucleotídeo Único , Humanos , Feminino , Pessoa de Meia-Idade , Masculino , Idoso , Adulto , Neoplasias Renais/genética , Neoplasias Renais/patologia , Neoplasias Renais/diagnóstico , Adenocarcinoma Mucinoso/genética , Adenocarcinoma Mucinoso/patologia , Adenocarcinoma Mucinoso/diagnóstico , Biomarcadores Tumorais/genética , Biomarcadores Tumorais/análise , Variações do Número de Cópias de DNA , Carcinoma/genética , Carcinoma/patologia , Carcinoma/diagnóstico , Análise de Sequência com Séries de Oligonucleotídeos , Carcinoma de Células Renais/genética , Carcinoma de Células Renais/patologia , Carcinoma de Células Renais/diagnóstico , Valor Preditivo dos Testes , Gradação de Tumores , Reprodutibilidade dos Testes , Diagnóstico Diferencial
16.
Cancer Cytopathol ; 131(4): 234-244, 2023 04.
Artigo em Inglês | MEDLINE | ID: mdl-36574153

RESUMO

BACKGROUND: Autoimmune pancreatitis (AIP) is a known mimicker of pancreatic ductal adenocarcinoma both clinically and radiologically. In this study, the authors present their institutional experience in diagnosing AIP on cytology and correlate results with the histologic findings. METHODS: A 14-year computerized search for patients who had histologically confirmed AIP with concurrent or prior cytology was performed. Clinical data, cytology findings, and surgical pathology results were reviewed for analysis. RESULTS: Eighteen patients were identified. The patients showed a male predominance, with a mean age of 59 years. Jaundice, weight loss, and abdominal pain were the most common clinical presentation. Five of 12 patients who were tested for serum immunoglobulin G4 had elevated levels. Cytologic findings of 16 cases that were available for review showed markedly inflamed fibrous stroma (54%) and cytologic atypia (50%). The final cytologic diagnoses were suspicious for adenocarcinoma (n = 1), atypical (n = 8), and benign/negative (n = 9). The corresponding surgical pathology diagnoses were classified as type 1 (n = 10), type 2 (n = 6), and AIP, not otherwise specified (n = 2). All type 2 AIP cases had at least atypical cytologic diagnoses, with one called suspicious for adenocarcinoma and another called adenocarcinoma at the time of rapid on-site evaluation. In contrast, eight of 10 type 1 AIP cases were negative/benign, and two of 10 were atypical. In these two atypical cases, the possibility of AIP was raised because of the presence of inflamed stroma. CONCLUSION: AIP is a pitfall in cytology because moderate-to-marked atypia can be present, especially in type 2 AIP. Because atypia can be severe, the presence of cellular fibrous stroma with lymphocytic stromal infiltrates and the integration of serum immunoglobulin G4 levels could be helpful in avoiding diagnostic overcall in AIP.


Assuntos
Pancreatite Autoimune , Pâncreas , Humanos , Pancreatite Autoimune/complicações , Pancreatite Autoimune/diagnóstico , Pancreatite Autoimune/patologia , Estudos Retrospectivos , Masculino , Feminino , Pessoa de Meia-Idade , Pâncreas/citologia , Adenocarcinoma/complicações , Adenocarcinoma/diagnóstico
17.
Hum Pathol ; 133: 136-152, 2023 03.
Artigo em Inglês | MEDLINE | ID: mdl-36894367

RESUMO

Renal manifestations in patients with tuberous sclerosis complex (TSC) include cysts, angiomyolipoma, and renal cell carcinoma. Unlike many hereditary predisposition syndromes, the spectrum of renal tumors in TSC patients (including both angiomyolipoma and renal cell carcinoma) is broad, with significant morphologic heterogeneity. An improved understanding of histopathologic findings in TSC patients and associated clinicopathologic correlates has significant implications not just in establishing a diagnosis of TSC, but also in the recognition of sporadic tumors occurring secondary to somatic alterations of TSC1/TSC2/MTOR pathway genes and accurate prognostication. In this review, we have discussed issues relevant to clinical management based on histopathologic findings in nephrectomy specimens from patients with TSC. This includes discussions related to screening for TSC, diagnosis of PKD1/TSC2 contiguous gene deletion syndrome, the morphologic spectrum of angiomyolipoma and renal epithelium-derived neoplasia, including the risk of disease progression.


Assuntos
Angiomiolipoma , Carcinoma de Células Renais , Cistos , Hamartoma , Neoplasias Renais , Esclerose Tuberosa , Humanos , Carcinoma de Células Renais/genética , Carcinoma de Células Renais/cirurgia , Angiomiolipoma/genética , Angiomiolipoma/cirurgia , Esclerose Tuberosa/complicações , Esclerose Tuberosa/cirurgia , Proteínas Supressoras de Tumor/genética , Proteínas Supressoras de Tumor/metabolismo , Proteína 2 do Complexo Esclerose Tuberosa/genética , Proteína 1 do Complexo Esclerose Tuberosa/genética , Neoplasias Renais/genética , Neoplasias Renais/cirurgia , Neoplasias Renais/metabolismo , Nefrectomia
18.
Arch Pathol Lab Med ; 147(7): 817-825, 2023 Jul 01.
Artigo em Inglês | MEDLINE | ID: mdl-36308711

RESUMO

CONTEXT.­: Epithelioid angiomyolipomas (eAMLs) are rare tumors of the kidney that occur in patients with tuberous sclerosis complex or in a sporadic setting; a subset of these tumors exhibit metastatic behavior. OBJECTIVE.­: To analyze molecular profiling data to identify pathogenic alterations in rare cases of metastatic eAML, and to identify immunohistochemistry (IHC)-based surrogate markers. DESIGN.­: Molecular profiling data from the American Association for Cancer Research GENIE registry was accessed for 23 patients with angiomyolipomas, and 9 of 16 patients with eAMLs in our institutional registry were evaluated with next-generation sequencing. IHC was performed to screen for alterations of P53, RB, and ATRX for all 16 institutional cases. RESULTS.­: Combined alterations of 5 tumor-suppressor genes (TP53, ATRX, RB1, APC, and NF1) were identified using next-generation sequencing in 7 of 8 (88%) patients with metastatic disease compared to a single patient with nonmetastatic disease (RB1 variant of uncertain significance; 1 of 24, 4%). No cases with abnormal IHC results were identified in 11 patients with nonmetastatic disease compared to 3 of 5 patients with metastatic disease. CONCLUSIONS.­: Our results show that the majority of metastatic eAMLs have mutations of 5 tumor-suppressor genes (TP53, ATRX, RB1, APC, and NF1), while these are rare in patients with nonmetastatic disease. Furthermore, IHC for P53, RB, and ATRX may serve as a screen for a subset of these alterations in resource-limited settings. These findings, if validated in larger data sets, have the potential to predict metastatic behavior in eAMLs.


Assuntos
Angiomiolipoma , Neoplasias Renais , Humanos , Angiomiolipoma/genética , Angiomiolipoma/patologia , Proteína Supressora de Tumor p53/genética , Neoplasias Renais/patologia , Rim/patologia , Mutação , Proteína Nuclear Ligada ao X/genética , Ubiquitina-Proteína Ligases/genética , Proteínas de Ligação a Retinoblastoma/genética
19.
Cytojournal ; 19: 12, 2022.
Artigo em Inglês | MEDLINE | ID: mdl-35510116

RESUMO

Objectives: Signet-ring cells (SRCs) in effusion specimens represent a diagnostic challenge. In this study, a consecutive series of pleural and peritoneal effusions with benign SRCs are examined and compared with malignant SRCs. Material and Methods: We reviewed consecutive Wright-stained serous effusion slides and searched for cases with SRCs. Corresponding ThinPrep slides and clinical histories were reviewed. Cytology cases with known signet-ring adenocarcinoma were retrieved and reviewed. Results: Four hundred Wright-stained serous effusions were reviewed. Eighteen cases were identified with SRC-like cells. Thirteen patients had liver cirrhosis, three patients had end-stage renal disease, one patient had a history of pancreatic adenocarcinoma, and one patient had endometrioid carcinoma. For the latter two patients, the primary tumor showed no histologic findings of signet-ring features. In all cases, no SRCs were found on the corresponding ThinPrep slides. Five cytology cases with malignant SRCs were reviewed. Benign SRCs have a uniformly pale and markedly distended cytoplasm, and the nuclei are thin and curved. The malignant SRCs showed larger non-curved nuclei and bubbly mucin-containing cytoplasm. Conclusion: Mesothelial cells and histiocytes can mimic signet-ring adenocarcinoma cells on Wright-stained slides. Correlation with ThinPrep specimens is necessary before reporting, as the SRCs typically are not present in ThinPrep preparations.

20.
Am J Clin Pathol ; 157(1): 140-145, 2022 Jan 06.
Artigo em Inglês | MEDLINE | ID: mdl-34463317

RESUMO

OBJECTIVES: SMARCA4-deficient undifferentiated tumor has distinct clinicopathologic features. We describe our experience with primary diagnosis on adrenal sampling. METHODS: We collected six SMARCA4-deficient undifferentiated tumors diagnosed on adrenal sampling. Immunostains for SMARCA4, SF-1, inhibin, calretinin, S-100 protein, EMA, and TTF-1 were performed. A control group of 63 primary adrenocortical tumors was also immunostained. RESULTS: Patients included four men and two women (aged 52-77 years). Five had unilateral adrenal masses and one bilateral (range, 2.4-9.6 cm). Five had pulmonary masses, and one had a midline mediastinal mass. All cases had a monotonous epithelioid appearance and variable rhabdoid morphology. Immunophenotypically, all six cases had loss of nuclear SMARCA4 expression and no staining for SF-1, inhibin, calretinin, or S-100 protein. Variable EMA immunoreactivity was present in four of six cases and focal nuclear TTF-1 expression in one of six. All 63 adrenocortical neoplasms had retained nuclear SMARCA4 expression. CONCLUSIONS: SMARCA4-deficient undifferentiated tumor may present in the adrenal gland, and this series likely represents metastases from thoracic primaries. Because of the frequent absence of lineage marker expression, knowledge of the characteristic clinical presentation, the rhabdoid morphology, and the typical immunophenotype (loss of SMARCA4/BRG1) allow for appropriate distinction from adrenocortical carcinoma.


Assuntos
Neoplasias do Córtex Suprarrenal/diagnóstico , DNA Helicases , Proteínas Nucleares , Fatores de Transcrição , Neoplasias do Córtex Suprarrenal/genética , Idoso , Biomarcadores Tumorais/genética , DNA Helicases/genética , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Proteínas Nucleares/genética , Manejo de Espécimes , Fatores de Transcrição/genética
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