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1.
BMJ Case Rep ; 14(1)2021 Jan 18.
Artigo em Inglês | MEDLINE | ID: mdl-33462019

RESUMO

Male breast cancer is rare and has been frequently associated with cancer predisposing variants, particularly in BRCA 1 and BRCA 2 genes. ATM pathogenic variants may also increase risk for breast and other cancers. However, less than 10 cases relating ATM mutations and male breast cancer have been previously reported. Therefore, risk estimates and surveillance recommendations are not well established. We report a case of a male patient with breast cancer found to be heterozygous for a pathogenic ATM variant after multigene testing. We also review the literature regarding increased cancer risk associated with ATM germline variants, with emphasis on potential recommendations for surveillance and follow-up.


Assuntos
Proteínas Mutadas de Ataxia Telangiectasia/genética , Biomarcadores Tumorais/genética , Neoplasias da Mama Masculina/diagnóstico , Carcinoma Ductal de Mama/diagnóstico , Carcinoma Ductal de Mama/genética , Mutação em Linhagem Germinativa , Neoplasias da Mama Masculina/genética , Humanos , Masculino , Pessoa de Meia-Idade
2.
Medicine (Baltimore) ; 99(50): e23556, 2020 Dec 11.
Artigo em Inglês | MEDLINE | ID: mdl-33327307

RESUMO

Women with nonpalpable breast masses are at a high risk of developing breast cancer (BC) due to misdiagnosis during the follow-up period.A total of 40,334 women were divided into palpable and nonpalpable breast mass groups. We assessed the risk factors for cancer development in patients with nonpalpable breast masses during a 1-year follow-up period.Of the 1335 patients in the nonpalpable breast mass group, we found 50 patients of BC, of which 35 patients accepted surgery and were confirmed with biopsy at the beginning of the study. The remaining 15 (1.1%) were diagnosed with BC during follow-up, and included 10 in situ and 5 invasive carcinomas. Four of the 10 patients in the in situ subgroup, and 2 out of the 5 in the invasive subgroup were overweight (Body mass index > 24 kg/m). Nine in situ BC patients had breast-conserving surgery, 1 had a mastectomy. No patient in the in situ group received chemotherapy or radiotherapy. All 5 patients with invasive disease received 6 cycles of chemotherapy. Only 3 (20%) of the 15 patients with BC had a positive family history. We found 131 BC cases, including BC detected during screening (81) and follow-up (50). The incidence of BC was 240.2 per 100,000 inhabitants.Patients with nonpalpable breast masses require regular follow-up as they have a high risk of cancer occurrence. Regular follow-up can lead to early diagnosis and effective treatment of these early-stage BC patients.


Assuntos
Doenças Mamárias/diagnóstico por imagem , Neoplasias da Mama/diagnóstico por imagem , Adolescente , Adulto , Idoso , Doenças Mamárias/diagnóstico , Neoplasias da Mama/diagnóstico , Carcinoma in Situ/diagnóstico , Carcinoma in Situ/diagnóstico por imagem , Carcinoma Ductal de Mama/diagnóstico , Carcinoma Ductal de Mama/diagnóstico por imagem , China , Detecção Precoce de Câncer , Feminino , Seguimentos , Humanos , Pessoa de Meia-Idade , Fatores de Risco , Ultrassonografia Mamária , Adulto Jovem
3.
BMJ Case Rep ; 13(12)2020 Dec 21.
Artigo em Inglês | MEDLINE | ID: mdl-33370954

RESUMO

Type 1 multiple endocrine neoplasia (MEN-1) syndrome is an autosomal dominant disease, associated with germline mutations in the MEN-1 tumour suppressor gene (encoding the menin protein). Recent studies, through a better characterisation of the functions of the menin protein, have started to demonstrate how changes in this protein may be related to breast cancer. We present the case of a patient whose diagnosis of MEN-1 syndrome was made during treatment for a breast tumour-this diagnosis was obtained after finding multiple neoplastic lesions that fitted the MEN-1 syndrome spectrum, during the initial staging and subsequent follow-up of a breast tumour. In line with the growing evidence that links MEN-1 syndrome to breast cancer tumorigenesis, this case report highlights the following question: should we start screening this subset of patients earlier for breast cancer?


Assuntos
Neoplasias da Mama/diagnóstico , Carcinoma Ductal de Mama/diagnóstico , Neoplasia Endócrina Múltipla Tipo 1/diagnóstico , Proteínas Proto-Oncogênicas/genética , Protocolos de Quimioterapia Combinada Antineoplásica/uso terapêutico , Mama/diagnóstico por imagem , Mama/patologia , Neoplasias da Mama/genética , Neoplasias da Mama/patologia , Neoplasias da Mama/terapia , Tumor Carcinoide/sangue , Tumor Carcinoide/diagnóstico , Tumor Carcinoide/genética , Tumor Carcinoide/terapia , Carcinoma Ductal de Mama/genética , Carcinoma Ductal de Mama/patologia , Carcinoma Ductal de Mama/terapia , Feminino , Aconselhamento Genético , Mutação em Linhagem Germinativa , Humanos , Achados Incidentais , Neoplasias Pulmonares/sangue , Neoplasias Pulmonares/diagnóstico , Neoplasias Pulmonares/genética , Neoplasias Pulmonares/terapia , Imagem por Ressonância Magnética , Mamografia , Pessoa de Meia-Idade , Neoplasia Endócrina Múltipla Tipo 1/complicações , Neoplasia Endócrina Múltipla Tipo 1/genética , Neoplasia Endócrina Múltipla Tipo 1/terapia , Mutação , Terapia Neoadjuvante/métodos , Estadiamento de Neoplasias , Glândulas Paratireoides/diagnóstico por imagem , Hormônio Paratireóideo/sangue , Neoplasias das Paratireoides/sangue , Neoplasias das Paratireoides/diagnóstico , Neoplasias das Paratireoides/genética , Neoplasias das Paratireoides/terapia , Paratireoidectomia , Pneumonectomia , Radioterapia Adjuvante , Tomografia Computadorizada por Raios X , Ultrassonografia Mamária
4.
Rev Mal Respir ; 37(9): 752-755, 2020 Nov.
Artigo em Francês | MEDLINE | ID: mdl-32888731

RESUMO

INTRODUCTION: Hypersensitivity pneumonitis (HP) is an interstitial lung disease due to an immunological reaction to exposure, by inhalation, to a large variety of antigens. The patho-physiological mechanism remains poorly understood. The diagnosis can be challenging and requires a detailed medical history taking especially when the clinical presentation is atypical or when the causal agent remains unknown. CASE REPORT: We report the case of a 75-year-old woman with a history of mammary carcinoma who presented with recently identified intramammary adenopathy. Biopsy of the adenopathy revealed non-necrotising, giant cell epithelioid granuloma. A diagnosis of hot tub lung with extra-pulmonary granulomatous lymph node involvement was made based on the clinical, functional, radiological and microbiological investigations. The evolution was favorable following antigen avoidance. CONCLUSION: Extrapulmonary lymph node involvement is rare in HP, suggesting a systemic inflammatory involvement.


Assuntos
Alveolite Alérgica Extrínseca/complicações , Alveolite Alérgica Extrínseca/diagnóstico , Neoplasias da Mama/complicações , Carcinoma Ductal de Mama/complicações , Linfadenopatia/diagnóstico , Idoso , Neoplasias da Mama/diagnóstico , Neoplasias da Mama/patologia , Carcinoma Ductal de Mama/diagnóstico , Carcinoma Ductal de Mama/patologia , Diagnóstico Diferencial , Feminino , Humanos , Linfadenopatia/complicações , Complexo Mycobacterium avium/imunologia , Infecção por Mycobacterium avium-intracellulare/complicações , Infecção por Mycobacterium avium-intracellulare/diagnóstico
5.
J Am Coll Surg ; 231(4): 434-447.e2, 2020 10.
Artigo em Inglês | MEDLINE | ID: mdl-32771654

RESUMO

BACKGROUND: During the COVID-19 pandemic, surgical delays have been common for patients with ductal carcinoma in situ (DCIS) and early-stage estrogen receptor-positive (ER+) breast cancer, often in favor of neoadjuvant endocrine therapy (NET). To understand possible ramifications of these delays, we examined the association between time to operation and pathologic staging and overall survival (OS). STUDY DESIGN: Patients with DCIS or ER+ cT1-2N0 breast cancer treated from 2010 through 2016 were identified in the National Cancer Database. Time to operation was recorded. Factors associated with pathologic upstaging were examined using logistic regression analyses. Cox proportional hazard models were used to analyze OS. Analyses were stratified by disease stage and initial treatment strategy. RESULTS: There were 378,839 patients identified. Among those undergoing primary surgical procedure, time to operation was within 120 days in > 98% in all groups. Among cT1-2N0 patients selected for NET, operations were performed within 120 days in 59.6% of cT1N0 and 30.9% of cT2N0 patients. Increased time to operation was associated with increased odds of pathologic upstaging in DCIS patients (ER+: 60 to 120 days: odds ratio 1.15; 95% CI, 1.08 to 1.22; more than 120 days: odds ratio 1.44; 95% CI, 1.24 to 1.68; ER-: 60 to 120 days: NS; more than 120 days: odds ratio 1.36; 95% CI, 1.01 to 1.82; 60 days or less: reference), but not in patients with invasive cancer, irrespective of initial treatment strategy. No difference in OS was seen by time to operation in DCIS or NET patients. CONCLUSIONS: Increased time to operation was associated with a small increase in pathologic upstaging in DCIS patients, but did not impact OS. In patients with cT1-2N0 disease, NET use did not impact stage or OS, supporting the safety of delay strategies in ER+ breast cancer patients during the pandemic.


Assuntos
Betacoronavirus , Neoplasias da Mama/diagnóstico , Carcinoma Ductal de Mama/diagnóstico , Infecções por Coronavirus/epidemiologia , Mastectomia/métodos , Estadiamento de Neoplasias , Pneumonia Viral/epidemiologia , Receptores Estrogênicos/metabolismo , Adolescente , Adulto , Idoso , Idoso de 80 Anos ou mais , Biomarcadores Tumorais/metabolismo , Neoplasias da Mama/epidemiologia , Neoplasias da Mama/cirurgia , Carcinoma Ductal de Mama/epidemiologia , Carcinoma Ductal de Mama/cirurgia , Comorbidade , Feminino , Seguimentos , Humanos , Pessoa de Meia-Idade , Pandemias , Prognóstico , Estudos Retrospectivos , Fatores de Risco , Taxa de Sobrevida/tendências , Fatores de Tempo , Tempo para o Tratamento , Estados Unidos/epidemiologia , Adulto Jovem
7.
Korean J Radiol ; 21(5): 550-560, 2020 05.
Artigo em Inglês | MEDLINE | ID: mdl-32323500

RESUMO

OBJECTIVE: To evaluate the interobserver agreement, diagnostic value, and associated clinical factors of automated breast ultrasound (ABUS) coronal features in differentiating breast lesions. MATERIALS AND METHODS: This study enrolled 457 pathologically confirmed lesions in 387 female (age, 46.4 ± 10.3 years), including 377 masses and 80 non-mass lesions (NMLs). The unique coronal features, including retraction phenomenon, hyper- or hypoechoic rim (continuous or discontinuous), skipping sign, and white wall sign, were defined and recorded. The interobserver agreement on image type and coronal features was evaluated. Furthermore, clinical factors, including the lesion size, distance to the nipple or skin, palpability, and the histological grade were analyzed. RESULTS: Among the 457 lesions, 296 were malignant and 161 were benign. The overall interobserver agreement for image type and all coronal features was moderate to good. For masses, the retraction phenomenon was significantly associated with malignancies (p < 0.001) and more frequently presented in small and superficial invasive carcinomas with a low histological grade (p = 0.027, 0.002, and < 0.001, respectively). Furthermore, continuous hyper- or hypoechoic rims were predictive of benign masses (p < 0.001), whereas discontinuous rims were predictive of malignancies (p < 0.001). A hyperechoic rim was more commonly detected in masses more distant from the nipple (p = 0.027), and a hypoechoic rim was more frequently found in large superficial masses (p < 0.001 for both). For NMLs, the skipping sign was a predictor of malignancies (p = 0.040). CONCLUSION: The coronal plane of ABUS may provide useful diagnostic value for breast lesions.


Assuntos
Neoplasias da Mama/diagnóstico por imagem , Mama/diagnóstico por imagem , Carcinoma Ductal de Mama/diagnóstico por imagem , Ultrassonografia Mamária/métodos , Adulto , Idoso , Mama/patologia , Neoplasias da Mama/diagnóstico , Neoplasias da Mama/patologia , Carcinoma Ductal de Mama/diagnóstico , Feminino , Humanos , Pessoa de Meia-Idade , Variações Dependentes do Observador , Sensibilidade e Especificidade
8.
Breast Cancer Res Treat ; 181(2): 383-390, 2020 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-32318957

RESUMO

PURPOSE: Optimizing treatment strategies for patients with inflammatory breast cancer (IBC) relies on accurate initial staging. This study compared contrast-enhanced computed tomography (ce-CT) and FDG-PET/CT for initial staging of IBC to determine the frequency of discordance between the two imaging modalities and potential impact on management. METHODS: 81 patients with IBC underwent FDG-PET/CT and ce-CT prior to starting treatment. FDG-PET/CT and ce-CT scans were independently reviewed for locoregional and distant metastases and findings recorded by anatomic site as negative, equivocal, or positive for breast cancer involvement. Each paired ce-CT and FDG-PET/CT case was classified as concordant or discordant for findings. Discordant findings were subclassified as (a) related to the presence or absence of distant metastases; (b) affecting the locoregional radiation therapy plan; or (c) due to incidental findings not related to IBC. RESULTS: There were 47 discordant findings between ce-CT and FDG-PET/CT in 41 of 81 patients (50.6%). Thirty (63.8%) were related to the presence or absence of distant metastases; most commonly disease detection on FDG-PET/CT but not ce-CT (n = 12). FDG-PET/CT suggested alterations of the locoregional radiation therapy plan designed by CT alone in 15 patients. FDG-PET/CT correctly characterized 5 of 7 findings equivocal for metastatic IBC on ce-CT. CONCLUSIONS: This study demonstrates differences between ce-CT and FDG-PET/CT for initial staging of IBC and how these differences potentially affect patient management. Preliminary data suggest that FDG-PET/CT may be the imaging modality of choice for initial staging of IBC. Prospective trials testing initial staging with FDG-PET/CT versus important clinical end-points in IBC are warranted.


Assuntos
Carcinoma Ductal de Mama/diagnóstico , Carcinoma Lobular/diagnóstico , Fluordesoxiglucose F18/metabolismo , Neoplasias Inflamatórias Mamárias/diagnóstico , Planejamento de Assistência ao Paciente/normas , Tomografia Computadorizada com Tomografia por Emissão de Pósitrons/métodos , Tomografia Computadorizada por Raios X/métodos , Adulto , Idoso , Carcinoma Ductal de Mama/diagnóstico por imagem , Carcinoma Ductal de Mama/metabolismo , Carcinoma Lobular/diagnóstico por imagem , Carcinoma Lobular/metabolismo , Diagnóstico Diferencial , Feminino , Seguimentos , Humanos , Neoplasias Inflamatórias Mamárias/diagnóstico por imagem , Neoplasias Inflamatórias Mamárias/metabolismo , Pessoa de Meia-Idade , Estadiamento de Neoplasias , Compostos Radiofarmacêuticos/metabolismo , Receptor ErbB-2/metabolismo , Receptores Estrogênicos/metabolismo , Receptores de Progesterona/metabolismo , Estudos Retrospectivos
9.
PLoS One ; 15(4): e0231004, 2020.
Artigo em Inglês | MEDLINE | ID: mdl-32271809

RESUMO

Blood and serum N-glycans can be used as markers for cancer diagnosis, as alterations in protein glycosylation are associated with cancer pathogenesis and progression. We aimed to develop a platform for breast cancer (BrC) diagnosis based on serum N-glycan profiles using MALDI-TOF mass spectroscopy. Serum N-glycans from BrC patients and healthy volunteers were evaluated using NosQuest's software "NosIDsys." BrC-associated "NosID" N-glycan biomarkers were selected based on abundance and NosIDsys analysis, and their diagnostic potential was determined using NosIDsys and receiver operating characteristic curves. Results showed an efficient pattern recognition of invasive ductal carcinoma patients, with very high diagnostic performance [area under the curve (AUC): 0.93 and 95% confidence interval (CI): 0.917-0.947]. We achieved effective stage-specific differentiation of BrC patients from healthy controls with 82.3% specificity, 84.1% sensitivity, and 82.8% accuracy for stage 1 BrC and recognized hormone receptor-2 and lymph node invasion subtypes based on N-glycan profiles. Our novel technique supplements conventional diagnostic strategies for BrC detection and can be developed as an independent platform for BrC screening.


Assuntos
Neoplasias da Mama/diagnóstico , Polissacarídeos/sangue , Espectrometria de Massas por Ionização e Dessorção a Laser Assistida por Matriz/métodos , Biomarcadores Tumorais/sangue , Neoplasias da Mama/sangue , Neoplasias da Mama/patologia , Carcinoma Ductal de Mama/sangue , Carcinoma Ductal de Mama/diagnóstico , Estudos de Casos e Controles , Feminino , Glicosilação , Humanos , Curva ROC , Sensibilidade e Especificidade
10.
Medicine (Baltimore) ; 99(11): e19506, 2020 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-32176095

RESUMO

RATIONALE: Accessory breast cancer is extremely rare among all cancerous diseases, especially in male patients. There were only few male axillary accessory breast cancer cases that have been reported in scientific literatures so far. Hereby, we would like to discuss a case of male axillary accessory breast cancer found in our hospital. PATIENT CONCERNS: We report a male senile patient suffering from a painful, enlarged, and hardened right axillary mass for more than 20 years. He came for further treatments due to progressive growth of the mass for 11 months with bloody ulceration for more than 1 month. DIAGNOSIS: Pathological examination manifested a grade II infiltrating ductal carcinoma derived from the accessory mammary gland (right axilla), with invasion of local skin. Immunohistochemical examination result: estrogen receptor (++) 90%, progesterone receptor (+++) 100%, human epidermal growth factor receptor-2 (1+), ki67 (20% positive), prostate specific antigen (-), caudal-related homeobox-2 (-), thyroid transcription factor-1 (-), Synaptophysin (+), NapsinA (1), and CK7 (-). INTERVENTIONS: Modified radical mastectomy and axillary lymph nodes clearance were performed on the accessary breast cancer under general anesthesia. Postoperatively, endocrine therapy was provided for the patient, orally-taken Letrozole was recommended for the rest of the patient's life. OUTCOMES: The patient recovered uneventfully and was discharged 3 days after the operation. The patient continued to take Letrozole orally regularly at home and no signs of recurrence were observed. CONCLUSION: Axillary accessory breast cancer in males is extremely rare, with no conspicuous and typical clinical presentations, which leads to inevitable neglect by clinicians. Therefore, there is significant necessity for clinicians to be cautious with this type of disease.


Assuntos
Doença de Alzheimer , Axila , Neoplasias da Mama Masculina/diagnóstico , Carcinoma Ductal de Mama/diagnóstico , Metástase Linfática/diagnóstico , Idoso de 80 Anos ou mais , Neoplasias da Mama Masculina/diagnóstico por imagem , Neoplasias da Mama Masculina/patologia , Neoplasias da Mama Masculina/cirurgia , Carcinoma Ductal de Mama/diagnóstico por imagem , Carcinoma Ductal de Mama/secundário , Carcinoma Ductal de Mama/cirurgia , Diagnóstico Diferencial , Humanos , Metástase Linfática/diagnóstico por imagem , Imagem por Ressonância Magnética , Masculino , Mastectomia Radical Modificada
11.
BMC Cancer ; 20(1): 119, 2020 Feb 12.
Artigo em Inglês | MEDLINE | ID: mdl-32050925

RESUMO

BACKGROUND: Ductal carcinoma in situ is a non-obligate precursor of invasive breast carcinoma and presents a potential risk of over or undertreatment. Finding molecular biomarkers of disease progression could allow for more adequate patient treatment. We aimed to identify potential biomarkers that can predict invasiveness risk. METHODS: In this epithelial cell-based study archival formalin-fixed paraffin-embedded blocks from six patients diagnosed with invasive lesions (pure invasive ductal carcinoma), six with in-situ lesions (pure ductal carcinoma in situ), six with synchronous lesions (invasive ductal carcinoma with an in-situ component) and three non-neoplastic breast epithelium tissues were analyzed by gene expression profiling of 770 genes, using the nCounter® PanCancer Pathways panel of NanoString Technologies. RESULTS: The results showed that in comparison with non-neoplastic tissue the pure ductal carcinoma in situ was one with the most altered gene expression profile. Comparing pure ductal carcinoma in situ and in-situ component six differentially expressed genes were found, three of them (FGF2, GAS1, and SFRP1), play a role in cell invasiveness. Importantly, these genes were also differentially expressed between invasive and noninvasive groups and were negatively regulated in later stages of carcinogenesis. CONCLUSIONS: We propose these three genes (FGF2, GAS1, and SFRP1) as potential biomarkers of ductal carcinoma in situ progression, suggesting that their downregulation may be involved in the transition of stationary to migrating invasive epithelial cells.


Assuntos
Biomarcadores Tumorais , Carcinoma Ductal de Mama/diagnóstico , Carcinoma Intraductal não Infiltrante/diagnóstico , Idoso , Idoso de 80 Anos ou mais , Carcinoma Ductal de Mama/genética , Carcinoma Ductal de Mama/metabolismo , Carcinoma Intraductal não Infiltrante/genética , Carcinoma Intraductal não Infiltrante/metabolismo , Biologia Computacional , Progressão da Doença , Suscetibilidade a Doenças , Feminino , Perfilação da Expressão Gênica , Humanos , Pessoa de Meia-Idade , Gradação de Tumores , Estadiamento de Neoplasias , Mapeamento de Interação de Proteínas , Mapas de Interação de Proteínas , Transcriptoma
12.
Indian J Pathol Microbiol ; 63(Supplement): S117-S122, 2020 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-32108643

RESUMO

Background: Tumor budding denotes a phenomenon in which the tumor cells, singly or in small aggregates, become detached from the neoplastic glands at the invasive front of adenocarcinoma. Tumors with budding cells have a significantly more aggressive clinical course. Significance of tumor budding has mainly been examined in the field of colorectal cancer. Aims: To document the number tumor buds at the invasive front of invasive breast cancer. To correlate the number of tumor buds with other histopathological parameters, and available clinical details. Setting and Study Design: Analytical study at a rural tertiary care referral institute. Materials and Methods: It was a retrospective study of invasive breast cancer cases from January 2012 to April 2015. Tumor buds were counted in H and E stained sections in 10 High Power Fields (HPFs). Association of tumor budding with histological parameters and available clinical details were analyzed statistically. Statistical Analysis Used: Frequencies, Chi-Square Test and Crosstabs were used for calculation. Results: 50 cases of invasive breast carcinoma were analyzed. Invasive ductal carcinoma constituted predominant histological type (92%). Low tumor budding (tumor buds ≤20/10HPFs) constituted 20 cases. High tumor budding (tumor buds >20/10HPFs) constituted 30 cases. Association of high tumor budding with lympho-vascular invasion, lymph node metastasis, primary tumor staging, regional lymph node staging, necrosis and Monckeberg medial sclerosis was statistically significant. Conclusion: Tumor budding may be incorporated as a new parameter in reporting protocols. Tumor budding serves as an indispensable touchstone in evaluating cases of invasive breast cancer.


Assuntos
Adenocarcinoma/patologia , Neoplasias da Mama/patologia , Carcinoma Ductal de Mama/patologia , Metástase Linfática/patologia , Invasividade Neoplásica , Adulto , Idoso , Neoplasias da Mama/diagnóstico , Carcinoma Ductal de Mama/diagnóstico , Feminino , Técnicas Histológicas , Humanos , Linfonodos/patologia , Metástase Linfática/diagnóstico , Pessoa de Meia-Idade , Prognóstico , Estudos Retrospectivos , Centros de Atenção Terciária , Adulto Jovem
13.
Neurology ; 94(5): e521-e528, 2020 02 04.
Artigo em Inglês | MEDLINE | ID: mdl-31907288

RESUMO

OBJECTIVE: The primary objective was to determine the sensitivity and specificity of epithelial cell adhesion molecule (EpCAM) immunoflow cytometry circulating tumor cells (CTC) analysis in CSF in patients with suspected leptomeningeal metastases (LM). The secondary objective was to explore the distribution of driver mutations in the primary tumor, plasma, cell free CSF (cfCSF), and isolated CTC from CSF in non-small cell lung cancer (NSCLC). METHODS: We tested the performance of the CTC assay vs CSF cytology in a prospective study in 81 patients with a clinical suspicion of LM but a nonconfirmatory MRI. In an NSCLC subcohort, we analyzed circulating tumor (ct)DNA of the selected driver mutations by digital droplet PCR (ddPCR). RESULTS: The sensitivity of the CTC assay was 94% (95% confidence interval [CI] 80-99) and the specificity was 100% (95% CI 91-100) at the optimal cutoff of 0.9 CTC/mL. The sensitivity of cytology was 76% (95% CI 58-89). Twelve of the 23 patients with NSCLC had mutated epidermal growth factor receptor (EGFR). All 5 tested patients with LM demonstrated the primary EGFR driver mutation in cfCSF. The driver mutation could also be detected in CTC isolated from CSF. CONCLUSION: CTC in CSF are detected with a high sensitivity for the diagnosis of LM. ddPCR can determine EGFR mutations in both cfCSF and isolated CTC from CSF of patients with EGFR-mutated NSCLC and LM. CLASSIFICATION OF EVIDENCE: This study provides Class III evidence that EpCAM-based immunoflow cytometry analysis of CSF accurately identifies patients with LM.


Assuntos
Carcinoma/líquido cefalorraquidiano , Carcinomatose Meníngea/líquido cefalorraquidiano , Células Neoplásicas Circulantes , Adulto , Idoso , Idoso de 80 Anos ou mais , Neoplasias da Mama/patologia , Carcinoma/diagnóstico , Carcinoma/secundário , Carcinoma Ductal de Mama/líquido cefalorraquidiano , Carcinoma Ductal de Mama/diagnóstico , Carcinoma Ductal de Mama/secundário , Carcinoma Lobular/líquido cefalorraquidiano , Carcinoma Lobular/diagnóstico , Carcinoma Lobular/secundário , Carcinoma Pulmonar de Células não Pequenas/líquido cefalorraquidiano , Carcinoma Pulmonar de Células não Pequenas/diagnóstico , Carcinoma Pulmonar de Células não Pequenas/genética , Carcinoma Pulmonar de Células não Pequenas/secundário , Carcinoma de Células de Transição/líquido cefalorraquidiano , Carcinoma de Células de Transição/diagnóstico , Carcinoma de Células de Transição/secundário , Molécula de Adesão da Célula Epitelial , Receptores ErbB/genética , Feminino , Citometria de Fluxo , Neoplasias Gastrointestinais/patologia , Humanos , Neoplasias Pulmonares/genética , Neoplasias Pulmonares/patologia , Imagem por Ressonância Magnética , Masculino , Carcinomatose Meníngea/diagnóstico , Carcinomatose Meníngea/genética , Carcinomatose Meníngea/secundário , Pessoa de Meia-Idade , Neoplasias Ovarianas/patologia , Sensibilidade e Especificidade , Carcinoma de Pequenas Células do Pulmão/líquido cefalorraquidiano , Carcinoma de Pequenas Células do Pulmão/diagnóstico , Carcinoma de Pequenas Células do Pulmão/secundário
15.
J Clin Pathol ; 73(9): 597-601, 2020 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-31980561

RESUMO

Metaplastic breast carcinoma is a rare subtype of breast cancer. This subtype is mostly found in association with poorly differentiated ductal breast carcinomas and rarely with other breast carcinoma types. We report the case of a 69-year-old woman with an exceptional invasive lobular breast carcinoma associated with metaplastic squamous cell bone metastasis occurring 2 years after the initial breast cancer diagnosis. Whole-exome sequencing and subsequent immunohistochemistry of the lesions were used to link the squamous cell bone metastasis of unknown origin to the primary breast carcinoma initially diagnosed. Searching for primary carcinoma when metastatic lesions of unknown origin occur can be complex. Current molecular biology techniques may help pathologists in associating metastasis with the primary carcinoma by identifying shared specific gene mutations, even when different morphological and immunohistochemical profiles are observed between the tumours.


Assuntos
Neoplasias Ósseas/diagnóstico , Neoplasias da Mama/diagnóstico , Carcinoma Ductal de Mama/diagnóstico , Carcinoma Lobular/diagnóstico , Sequenciamento Completo do Exoma , Idoso , Neoplasias Ósseas/genética , Neoplasias Ósseas/secundário , Mama/patologia , Neoplasias da Mama/genética , Neoplasias da Mama/patologia , Carcinoma Ductal de Mama/genética , Carcinoma Ductal de Mama/patologia , Carcinoma Lobular/genética , Carcinoma Lobular/patologia , Exoma/genética , Feminino , Humanos , Imuno-Histoquímica , Metaplasia/patologia , Mutação , Metástase Neoplásica
16.
Bratisl Lek Listy ; 121(1): 51-61, 2020.
Artigo em Inglês | MEDLINE | ID: mdl-31950840

RESUMO

AIM: STATs and HIFs in human solid tumors play an important role in mechanisms of tumor growth. The aim of this study was to determine the prognostic role of STATs and HIFs in breast cancers. METHODS: Twenty­four breast carcinoma cases who underwent mastectomy and axillary dissection were included into the study. The presence of STATs and HIFs in 24 breast cancer cases was evaluated immunohistochemically. We evaluated the differences in tumor grade, diameter, limits, intratumor desmoplasia, inflammatory infiltration, necrosis, axillary lymph node involvement, estrogen, progesterone and CerbB2 staining. RESULTS: In this study, the presence of STATs and HIFs expressions in breast tumors is shown. In our study, no statistically significant correlation was found between tumor grade, diameter, limits, intratumor desmoplasia, inflammatory infiltration, necrosis, axillary lymph node involvement, CerbB2 staining status and STATs and HIFs expressions. However, STAT5a and estrogen staining and HIF2α and progesterone staining were found statistically significant. In addition, STAT3 expression was found to have significantly higher correlation with luminal breast cancer. CONCLUSIONS: The findings suggest that STATs and HIFs may play a role in the development of invasive ductal carcinomas; concerning their future use as treatment options due to their association with hormone receptors, new studies are required (Tab. 6, Fig. 7, Ref. 65).


Assuntos
Neoplasias da Mama , Carcinoma Ductal de Mama , Fator de Transcrição STAT3 , Neoplasias da Mama/diagnóstico , Neoplasias da Mama/genética , Neoplasias da Mama/cirurgia , Carcinoma Ductal de Mama/diagnóstico , Carcinoma Ductal de Mama/genética , Carcinoma Ductal de Mama/cirurgia , Humanos , Fator 1 Induzível por Hipóxia , Excisão de Linfonodo , Mastectomia , Prognóstico , Fator de Transcrição STAT3/metabolismo
17.
Breast Cancer Res ; 22(1): 6, 2020 01 13.
Artigo em Inglês | MEDLINE | ID: mdl-31931856

RESUMO

BACKGROUND: Distinguishing ductal carcinoma in situ (DCIS) from invasive ductal carcinoma (IDC) regions in clinical biopsies constitutes a diagnostic challenge. Spatial transcriptomics (ST) is an in situ capturing method, which allows quantification and visualization of transcriptomes in individual tissue sections. In the past, studies have shown that breast cancer samples can be used to study their transcriptomes with spatial resolution in individual tissue sections. Previously, supervised machine learning methods were used in clinical studies to predict the clinical outcomes for cancer types. METHODS: We used four publicly available ST breast cancer datasets from breast tissue sections annotated by pathologists as non-malignant, DCIS, or IDC. We trained and tested a machine learning method (support vector machine) based on the expert annotation as well as based on automatic selection of cell types by their transcriptome profiles. RESULTS: We identified expression signatures for expert annotated regions (non-malignant, DCIS, and IDC) and build machine learning models. Classification results for 798 expression signature transcripts showed high coincidence with the expert pathologist annotation for DCIS (100%) and IDC (96%). Extending our analysis to include all 25,179 expressed transcripts resulted in an accuracy of 99% for DCIS and 98% for IDC. Further, classification based on an automatically identified expression signature covering all ST spots of tissue sections resulted in prediction accuracy of 95% for DCIS and 91% for IDC. CONCLUSIONS: This concept study suggest that the ST signatures learned from expert selected breast cancer tissue sections can be used to identify breast cancer regions in whole tissue sections including regions not trained on. Furthermore, the identified expression signatures can classify cancer regions in tissue sections not used for training with high accuracy. Expert-generated but even automatically generated cancer signatures from ST data might be able to classify breast cancer regions and provide clinical decision support for pathologists in the future.


Assuntos
Biomarcadores Tumorais/genética , Neoplasias da Mama/diagnóstico , Carcinoma Ductal de Mama/diagnóstico , Carcinoma Intraductal não Infiltrante/diagnóstico , Aprendizado de Máquina , Tipagem Molecular/métodos , Transcriptoma , Neoplasias da Mama/classificação , Neoplasias da Mama/genética , Carcinoma Ductal de Mama/genética , Carcinoma Intraductal não Infiltrante/genética , Feminino , Humanos , Curva ROC , Análise Espacial
18.
Breast ; 49: 225-232, 2020 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-31911370

RESUMO

PURPOSE: The proliferation marker Ki67 has prognostic and predictive values in breast cancer, and the cutoff of the Ki67 label index (LI) is a key index for chemotherapy. However, poor interobserver consistency in Ki67 assessment has limited the clinical use of Ki67, especially in luminal cancers. Here, we reported a modified Ki67 assessment method, size-set semiautomatic counting (SSSAC) and investigated its interobserver reproducibility. METHODS: One hundred invasive breast cancer tissues were set immunostained for Ki67 in one laboratory, scanned as digital slides, and sent to 41 pathologists at the laboratories of 16 hospitals for Ki67 LI assessment using size-set semiautomatic counting (SSSAC), size-set visual assessment (SSVA) and size-set digital image analysis (SSDIA) with a specific image viewing software (Aperio Image Scope, Leica, Germany). The intraclass correlation coefficient (ICC) and Bland-Altman plot were used to evaluate interobserver reproducibility. The Wilcoxon signed-rank test was used to analyze the difference in the Ki67 values assessed by SSSAC and SSDIA. RESULTS: SSSAC demonstrated better interobserver reproducibility (ICC = 0.942) than SSVA (ICC = 0.802). The interobserver reproducibility was better in Ki67 homogeneously stained slides and centralized hot-spot slides than in scattered hot-spot slides. The Ki67 value assessed with SSSAC was obviously higher than that assessed with SSDIA (negative ranks (SSDIA < SSSAC): N = 80, sum of ranks = 4274.50; positive ranks (SSDIA > SSSAC): N = 17, sum of ranks = 478.50; Z = -6.837; P < 0.001). CONCLUSION: SSSAC shows satisfactory interobserver reproducibility in the Ki67 assessment of breast cancer and may be a candidate standard method for Ki67 LI assessment in breast cancer and other malignancies.


Assuntos
Neoplasias da Mama/metabolismo , Neoplasias da Mama/patologia , Carcinoma Ductal de Mama/metabolismo , Carcinoma Ductal de Mama/patologia , Interpretação de Imagem Assistida por Computador/métodos , Antígeno Ki-67/metabolismo , Neoplasias da Mama/diagnóstico , Carcinoma Ductal de Mama/diagnóstico , Feminino , Humanos , Imuno-Histoquímica , Variações Dependentes do Observador , Reprodutibilidade dos Testes
19.
Breast ; 49: 233-241, 2020 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-31918322

RESUMO

PURPOSE: To investigate the effect of 21-gene recurrence score (RS) on chemotherapy-decision making and prognosis in breast cancer patients aged <40 years. METHODS: Using the Surveillance, Epidemiology, and End Results program, we included patients aged <40 years with tumor size ≤5 cm, node negative, and estrogen receptor-positive breast cancer between 2004 and 2015. Correlations among the 21-gene RS, chemotherapy decision-making and prognosis were analyzed. RESULTS: We included 2721 patients in this study. According to TAILORx cutoffs, 352 (12.9%), 1814 (66.7%), and 555 (20.4%) patients were classified as low-, intermediate-, and high-risk cohorts, respectively. The 21-gene RS categories were associated with the probability of receiving chemotherapy, with 7.1%, 33.4%, and 77.1% of patients in low-, intermediate-, and high-risk cohorts treated with chemotherapy, respectively (P < 0.001). Those in the intermediate-risk cohort were significantly less likely to receive chemotherapy over time (P = 0.008), and the trends of chemotherapy receipt were stable in the low-risk and high-risk cohorts over time. Multivariate analysis showed that the 21-gene RS was an independent prognostic indicator for breast cancer specific survival. In the stratified analysis, the receipt of chemotherapy was associated with better breast cancer specific survival in the high-risk cohort (P = 0.028), but not in the intermediate-risk cohort (P = 0.223). CONCLUSIONS: 21-gene RS has clinical implications for young breast cancer patients with respect to optimizing chemotherapy-decisions. Despite increasing rates of chemotherapy receipt in young patients, more studies are needed to determine the definitive effect of chemotherapy in young patients with three RS categories.


Assuntos
Antineoplásicos/uso terapêutico , Neoplasias da Mama/genética , Regras de Decisão Clínica , Tomada de Decisão Clínica/métodos , Testes Genéticos/métodos , Recidiva Local de Neoplasia/genética , Adulto , Fatores Etários , Biomarcadores Tumorais/genética , Neoplasias da Mama/diagnóstico , Neoplasias da Mama/tratamento farmacológico , Neoplasias da Mama/mortalidade , Carcinoma Ductal de Mama/diagnóstico , Carcinoma Ductal de Mama/tratamento farmacológico , Carcinoma Ductal de Mama/genética , Carcinoma Ductal de Mama/mortalidade , Carcinoma Lobular/diagnóstico , Carcinoma Lobular/tratamento farmacológico , Carcinoma Lobular/genética , Carcinoma Lobular/mortalidade , Feminino , Seguimentos , Perfilação da Expressão Gênica , Humanos , Recidiva Local de Neoplasia/diagnóstico , Recidiva Local de Neoplasia/mortalidade , Recidiva Local de Neoplasia/prevenção & controle , Prognóstico , Estudos Retrospectivos , Medição de Risco , Programa de SEER , Análise de Sobrevida
20.
Breast ; 49: 246-253, 2020 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-31918324

RESUMO

BACKGROUND: The German NIU HER2 model was developed based on five variables found to have statistically significant influences on HER2-positivity, to allow exploration of deviations between model-predicted and actual HER2-positivity rates as a measure of testing quality. The prospective, non-interventional EPI HER2 BC study (NCT02666261) compared NIU and EPI data, aiming to validate the NIU model. METHODS: HER2 status and patient-/tumour-related information were collected from eligible patients with invasive breast cancer. The influence of variables on HER2-positivity was compared between studies and the NIU model validated using EPI data with cut-off and variable coefficients from the NIU study. The influences of additional variables, centre effects and laboratory-specific parameters were also explored. RESULTS: The study included 14,729 EPI and 15,281 NIU samples; HER2-positivity rates were comparable (13.5% versus 14.2%). The five covariates from NIU were shown to significantly affect HER2-positivity using EPI data. The Youden Index for the NIU model refitted to EPI data (0.3632) and the NIU model for prediction of HER2-positivity in EPI (0.3552) was close to that for the NIU model fitted to NIU data (0.3888), validating the NIU model. Replacing hormone receptor status with progesterone and oestrogen receptor expression, and adding method of sample extraction as a variable improved the model's predictive strength (ROC AUC 0.7402; Youden Index 0.3935). CONCLUSIONS: Reliable, high-quality HER2-testing methods are essential for selection of patients with HER2-positive breast cancer for HER2-tageted treatment. Integration of our model into a locally used software or website may improve its viability for use in clinical practice.


Assuntos
Neoplasias da Mama/metabolismo , Carcinoma Ductal de Mama/metabolismo , Modelos Estatísticos , Receptor ErbB-2/metabolismo , Adulto , Idoso , Idoso de 80 Anos ou mais , Neoplasias da Mama/diagnóstico , Carcinoma Ductal de Mama/diagnóstico , Feminino , Alemanha , Humanos , Imuno-Histoquímica , Pessoa de Meia-Idade , Estudos Multicêntricos como Assunto , Reprodutibilidade dos Testes , Estudos Retrospectivos
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