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2.
Cytopathology ; 30(1): 68-73, 2019 01.
Artigo em Inglês | MEDLINE | ID: mdl-30055110

RESUMO

BACKGROUND: Next generation sequencing (NGS) to detect actionable genetic abnormalities is standard of care in advanced stage lung adenocarcinoma. Many studies have shown that the molecular results obtained from fine needle aspiration cytology material are comparable to those obtained from formalin-fixed tissue samples. We undertook this study to validate DNA extraction from cytology material for molecular studies and to find any correlation between DNA yield, pattern of tumour cells and tumour fraction. METHODS: DNA was extracted from 34 cytology slides of pulmonary adenocarcinoma cases with predetermined EGFR mutation status. Cytology slides were reviewed for pattern of tumour distribution and tumour fraction. NGS was performed on five slides with variable DNA and compared with original results. RESULTS: There were 14 alcohol-fixed and 20 air-dried smears. The mean DNA yield was 1.74 µg and median of 0.4 µg (range, 0.02-21 µg). Tumour fractions varied from 10% to 90%. No correlation was found between tumour fraction and DNA yield (P = 0.14). The mean DNA yield was high in slides with tumour throughout the slide (sheets or scattered clusters) as compared to rare scattered clusters and/or single cells. EGFR mutation was found in four of the five cases sent for NGS lung panel while one case revealed BRAF mutation. CONCLUSIONS: DNA with good quantity and quality can be extracted from the cytology slides for NGS irrespective of type of fixation. DNA yield has better correlation with distribution pattern of tumour cells on the slides rather than tumour fraction.


Assuntos
Adenocarcinoma de Pulmão/diagnóstico , Citodiagnóstico , Proteínas Proto-Oncogênicas B-raf/genética , Adenocarcinoma de Pulmão/genética , Adenocarcinoma de Pulmão/patologia , Líquido Ascítico/patologia , Biópsia por Agulha Fina , Receptores ErbB/genética , Sequenciamento de Nucleotídeos em Larga Escala , Humanos , Mutação
3.
Can J Urol ; 21(4): 7374-8, 2014 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-25171282

RESUMO

INTRODUCTION: Tumor grade plays a critical role in the management of papillary non-invasive urothelial carcinoma (UC). Since grading of UC relies on morphologic criteria, variability in interpretation exists among pathologists. The objective of this study was to examine inter-observer variability in the grading of papillary non-invasive UC at a single academic medical center. MATERIALS AND METHODS: One general pathologist and two genitourinary pathologists were blinded to patient identity and graded 98 consecutive UC specimens using the 1973 and 2004 classification systems. Kappa statistics (κ) were used to measure inter-observer reproducibility to account for agreement expected purely by chance. By convention, Ï° values from 0.21-0.4 represent "fair", from 0.41-0.6 represent "moderate", and > 0.6 represent "substantial" agreement. RESULTS: Raw percentage agreement among all three pathologists was only 26% using the 1973 system and 47% using the 2004 system. When measured by kappa, overall agreement was only "fair" for both systems and while higher for the 2004 system than the 1973, this was not significant (: 0.38 versus 0.26, respectively). There were no significant differences in agreement when comparing the specialists agreement between themselves with agreement between each specialist and the generalist (Ï°: 0.31-0.37 versus Ï°: 0.18-0.46). CONCLUSIONS: The current grading system continues to demonstrate challenges in reproducibility among general and specialized pathologists. The degree of variability has significant implications on management decisions for non-invasive UC. Our findings underscore the need to identify molecular markers that can provide a more objective and reliable risk stratification system to guide patient management.


Assuntos
Carcinoma de Células de Transição/diagnóstico , Carcinoma de Células de Transição/patologia , Neoplasias da Bexiga Urinária/diagnóstico , Neoplasias da Bexiga Urinária/patologia , Carcinoma de Células de Transição/epidemiologia , Humanos , Incidência , Gradação de Tumores , Variações Dependentes do Observador , Reprodutibilidade dos Testes , Neoplasias da Bexiga Urinária/epidemiologia , Organização Mundial da Saúde
4.
Acta Cytol ; 58(5): 501-10, 2014.
Artigo em Inglês | MEDLINE | ID: mdl-25342157

RESUMO

BACKGROUND/AIM: The primary role of fine-needle aspiration cytology (FNAC) of salivary gland masses is to determine the underlying process and guide further management. The objective of our study is to provide a comprehensive review of cytologic features and ancillary studies of mammary analog secretory carcinoma (MASC), discuss differential diagnosis and review recent advances in the understanding of its biologic behavior. CASE: A 23-year-old female underwent ultrasound-guided FNA of a slowly enlarging parotid mass. Smears displayed branching clusters of bland vacuolated polygonal cells in a secretory proteinaceous background. Eosinophilic cells with eccentric nuclei and inconspicuous nucleoli were also noted. Based on positive intracellular mucin staining and the lack of extracellular-matrix material, the cytologic diagnosis rendered was 'suspicious for low grade mucoepidermoid carcinoma'. Superficial parotidectomy revealed an MASC confirmed by fluorescence in situ hybridization (FISH) studies for ETV6 translocation. CONCLUSION: MASC should be included in the differential diagnosis of mucinous salivary lesions with cystic changes on FNA. Immunohistochemistry for mammaglobin and S-100 helps in excluding morphologic mimics. FISH helps to confirm the diagnosis. Age alone should not be a deterrent in diagnosing a carcinoma.


Assuntos
Biomarcadores Tumorais/genética , Carcinoma de Células Acinares/diagnóstico , Glândula Parótida/patologia , Proteínas S100/genética , Neoplasias das Glândulas Salivares/diagnóstico , Secretoglobinas/genética , Biópsia por Agulha Fina , Neoplasias da Mama/diagnóstico , Neoplasias da Mama/patologia , Carcinoma/diagnóstico , Carcinoma/patologia , Carcinoma de Células Acinares/genética , Carcinoma de Células Acinares/patologia , Carcinoma Mucoepidermoide/diagnóstico , Carcinoma Mucoepidermoide/patologia , Diagnóstico Diferencial , Feminino , Humanos , Imuno-Histoquímica , Hibridização in Situ Fluorescente , Glândula Parótida/metabolismo , Neoplasias das Glândulas Salivares/genética , Neoplasias das Glândulas Salivares/patologia , Adulto Jovem
5.
Diagn Cytopathol ; 52(8): 413-423, 2024 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-38323803

RESUMO

Graduate medical education and training in Cytopathology faced numerous unexpected challenges during the COVID-19 pandemic of 2020. It was caused by the SARS-Co-V2 coronavirus and transmitted by breathing droplets or aerosol particles containing the virus and less commonly by contact with infected surfaces and fomites. To mitigate the rapid spread of disease non-essential services were closed, surgical procedures were prioritized, and "social distancing" was implemented. These measures led to a marked decline in the volume of specimens, number of fine needle aspiration (FNA) and rapid on-site evaluation procedures performed. The trainees in Pathology were required to stay at home either entirely or partly during the early period of the pandemic. This led to re-designing of the cytopathology training program nationwide. Many innovative methods and protocols were put in place to overcome the challenges faced and adjustments made in creating the virtual training program in Cytopathology. On May 5th, 2023, the WHO declared that COVID-19 was no longer a global emergency. Regulations were lifted and healthcare services returned to pre-pandemic era. Graduate medical education and training returned to normal however many changes were incorporated into the training program moving forward. Herein the impacts and innovations that COVID-19 had on Cytopathology training are described.


Assuntos
COVID-19 , SARS-CoV-2 , COVID-19/epidemiologia , COVID-19/prevenção & controle , COVID-19/patologia , Humanos , Educação de Pós-Graduação em Medicina/métodos , Biópsia por Agulha Fina/métodos , Pandemias , Citologia
6.
J Med Case Rep ; 18(1): 12, 2024 Jan 10.
Artigo em Inglês | MEDLINE | ID: mdl-38195538

RESUMO

BACKGROUND: Intravesical Bacillus Calmette-Guérin (BCG) is used as a standard adjuvant therapy for non-muscle invasive urothelial cancer. Most patients tolerate the treatment well, with mild side effects. Systemic complications are extremely rare, occur due to BCG dissemination and are associated with immunocompromised state and urothelial breach. CASE PRESENTATION: We present a case of a 78-year-old male, a former smoker, with history of non-muscle invasive urothelial carcinoma status post partial resection followed by intravesical BCG therapy. An autopsy was performed due to the sudden nature of his death. Autopsy showed multiple necrotizing granulomas in the brain, atrium, ventricles, lungs, kidneys, and urinary bladder. Stains for acid-fast bacilli and fungi were negative. In addition, bilateral lungs showed evidence of bronchopneumonia secondary to cytomegalovirus. CONCLUSION: Granulomatous myocarditis arising from BCG therapy is extremely rare. Our patient with urothelial cancer treated with BCG developed multiorgan granulomas, most likely due to a hypersensitivity reaction to intravesical BCG. Arrhythmia induced by granulomatous myocarditis was the cause of his death. Although there have been few cases of systemic BCG-osis causing fatal sepsis leading to death, a cardiac cause of death is unique.


Assuntos
Vacina BCG , Carcinoma de Células de Transição , Miocardite , Neoplasias da Bexiga Urinária , Idoso , Humanos , Masculino , Autopsia , Vacina BCG/efeitos adversos , Carcinoma de Células de Transição/tratamento farmacológico , Granuloma/induzido quimicamente , Miocardite/induzido quimicamente , Neoplasias da Bexiga Urinária/tratamento farmacológico , Evolução Fatal
7.
Diagn Cytopathol ; 2024 May 25.
Artigo em Inglês | MEDLINE | ID: mdl-38794964

RESUMO

INTRODUCTION: Trichorhinophalangeal syndrome type 1 (TRPS1) has emerged as a reliable immunohistochemistry (IHC) marker for identifying breast origin in metastatic carcinomas. This study investigates the utility of TRPS1 IHC in non-breast cytology specimens. MATERIALS AND METHODS: A retrospective search of our pathology database for the year 2021 identified fluids (pleural and peritoneal) and liver, lung and bone fine needle aspirations (FNAs) with surgical follow-up confirming non-breast metastatic carcinomas. Cell blocks from cases with sufficient neoplastic cells underwent immunostaining using a rabbit polyclonal antibody against human TRPS1. Cases lacking tumor on deeper levels after the original work-up were excluded from the study. Two pathologists independently interpreted the TRPS1 staining. RESULTS: Of 136 cases assessed, 31 (22.79%) exhibited positive TRPS1 staining, while 105 (77.21%) were nonreactive. Positivity rates were observed in tumors of Mullerian cell origin, gastrointestinal tract (GIT), and lung origin at 28.85%, 25%, and 21.57%, respectively. Of the tumors of Mullerian cell origin 10 (66.67%) were serous carcinomas, 4 (26.67%) were endometrioid carcinomas, and one (6.67%) was a clear cell carcinoma. Lung tumors comprised seven (63.64%) squamous cell carcinomas and four (36.36%) adenocarcinomas, while the gastrointestinal tumors consisted of 14 (80%) adenocarcinomas and one (20%) squamous cell carcinoma. CONCLUSIONS: Although recognized as a sensitive marker for mammary carcinomas, TRPS1 immunostaining was also detected in Mullerian, lung, and GIT carcinomas. This highlights the significance of being cautious when depending solely on TRPS1 immunostaining to distinguish metastatic breast tumors.

8.
J Magn Reson Imaging ; 38(3): 694-700, 2013 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-23371846

RESUMO

PURPOSE: To compare tumor detection on acquired diffusion-weighted (DW) images and apparent diffusion coefficient (ADC) maps, obtained using b-values of 1000 s/mm(2) and 2000 s/mm(2) , using radical prostatectomy as the reference. MATERIALS AND METHODS: In all, 29 prostate cancer patients who underwent 3T magnetic resonance imaging (MRI) including DW imaging using b-values of 1000 s/mm(2) and 2000 s/mm(2) were included. Two radiologists independently evaluated four image sets during different sessions and recorded the location and diameter of the dominant lesion: DW images acquired using b-values of 1000 s/mm(2) and 2000 s/mm(2) and ADC maps calculated using maximal b-values of 1000 s/mm(2) and 2000 s/mm(2) . Findings were correlated with the location and diameter of the dominant lesion at prostatectomy. Tumor-to-PZ contrast was also calculated, unblinded to pathology. RESULTS: Both readers achieved significantly higher sensitivity for DW images obtained using a b-value of 2000 s/mm(2) than 1000 s/mm(2) (P < 0.001), although there was no difference in sensitivity between ADC maps calculated using the two b-values (P ≥ 0.309). Tumor-to-PZ contrast was higher for DW images using a b-value of 2000 s/mm(2) (P = 0.067), although it was not different between the two corresponding ADC maps (P = 0.544). For both readers, correlations with tumor diameters were higher for either ADC map (r = 0.59-0.73) than for either acquired DW image set (r = 0.03-0.57). CONCLUSION: Use of a b-value of 2000 s/mm(2) compared with a b-value of 1000 s/mm(2) resulted in improved tumor sensitivity and higher tumor-to-PZ contrast on the acquired DW images, although performance of the ADC maps corresponding with the two b-values was similar. Correlation with tumor size was greater for either ADC map than for either acquired DW image set.


Assuntos
Algoritmos , Imagem de Difusão por Ressonância Magnética/métodos , Interpretação de Imagem Assistida por Computador/métodos , Neoplasias da Próstata/patologia , Adulto , Idoso , Idoso de 80 Anos ou mais , Humanos , Aumento da Imagem/métodos , Masculino , Pessoa de Meia-Idade , Reprodutibilidade dos Testes , Sensibilidade e Especificidade
9.
Histopathology ; 60(6): 1004-8, 2012 May.
Artigo em Inglês | MEDLINE | ID: mdl-22373012

RESUMO

AIMS: To evaluate the potential of periprostatic lymph node (LN) as a staging indicator, particularly with the use of methods for enhanced detection of micrometastasis. METHODS AND RESULTS: We retrieved cases with periprostatic LN from radical prostatectomy specimens accrued between 1997 and 2007 at our institution. Twenty-one (0.8%) of 2663 radical prostatectomy specimens had periprostatic LNs (total number of LNs = 22). LN size ranged from 0.8 to 4.7 mm. Most of the periprostatic LNs were located close to the posterior base. Seven (32%) of 22 LNs were involved by metastatic prostate cancer (PCa), including five detected on routine haematoxylin and ceosin slides and an additional two detected only by immunohistochemistry. Cases with periprostatic LNs had a significantly higher metastatic rate (29%; six of 21) compared to those with pelvic LNs sampled at radical prostectatomy in our institution (1.9%). When compared to cases with negative periprostatic LNs (n = 15), the tumour characteristics of cases with metastatic periprostatic LNs (n = 6) included higher tumour volume, Gleason score, stage and a greater propensity for prostate-specific antigen (PSA) recurrence. CONCLUSIONS: Despite their infrequent identification, periprostatic LNs if detected in the radical prostatectomy specimen should be evaluated with greater scrutiny (step sections and/or immunohistochemical studies) to evaluate their prognostic potential.


Assuntos
Adenocarcinoma/secundário , Linfonodos/patologia , Neoplasias da Próstata/patologia , Adenocarcinoma/cirurgia , Humanos , Excisão de Linfonodo , Metástase Linfática , Masculino , Recidiva Local de Neoplasia , Estadiamento de Neoplasias , Pelve/cirurgia , Prostatectomia , Neoplasias da Próstata/cirurgia
10.
Acta Cytol ; 56(4): 383-7, 2012.
Artigo em Inglês | MEDLINE | ID: mdl-22846668

RESUMO

OBJECTIVE: Squamous intraepithelial lesions (SILs) are classified as low-grade SIL (LGSIL) and high-grade SIL (HGSIL). 'LGSIL cannot exclude high grade' (LGSIL-H) interpretive category has been used in cases where findings exceed criteria for LGSIL, but do not fulfill the criteria for HGSIL. This study analyzed follow-up histology of LGSIL-H cases and compared the follow-up results of LGSIL-H with LGSIL to determine the utility of LGSIL-H category using a single institution's experience. STUDY DESIGN: Pap smears with LGSIL-H interpretation from 2005 to 2008 were retrieved. Histological follow-up results for LGSIL-H cases were analyzed and compared to the follow-up results of LGSIL cases. RESULTS: Cases with LGSIL-H interpretation (311) comprised 0.18% of all cases (170,307). Follow-up was available for 144 patients and 13.2% had benign findings, 51.4% had cervical intraepithelial neoplasia (CIN) 1, and 35.4% had CIN 2 or higher. In comparison, of 425 patients with LGSIL, 22.6% had benign findings, 71% had CIN 1 and 6.4% had CIN 2 or higher. CONCLUSION: A significantly greater number of patients with LGSIL-H interpretation had a CIN 2 or higher lesion on follow-up compared to patients with LGSIL. This suggests LGSIL-H may be a useful diagnostic category.


Assuntos
Displasia do Colo do Útero/classificação , Displasia do Colo do Útero/patologia , Neoplasias do Colo do Útero/classificação , Neoplasias do Colo do Útero/patologia , Feminino , Humanos , Gradação de Tumores , Teste de Papanicolaou , Esfregaço Vaginal
11.
Diagn Cytopathol ; 50(2): 57-63, 2022 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-34870898

RESUMO

BACKGROUND: The aim of this study is to assess the efficacy of cytology in omental or peritoneal lesions. METHODS: A retrospective review of the pathology database for cytology cases of peritoneal or omental nodules over a 3-year period (2016-2018) was conducted. The cases consisted of either FNA only (FO); FNA and Core biopsy (FCB) or Touch prep and core biopsy (TCB). Cases were further divided based on the prior history of carcinoma. Concordance rates of cytologic diagnosis with histologic diagnosis were studied. RESULTS: Out of 104 cytology cases reviewed, 60 (57.7%) had prior history of cancer (PHC) and 44 (42.3%) had no prior history of cancer (NPHC). Of the cases with PHC, 43(71.66%) were recurrence, 10 (16.66%) were second cancer, and 7 (11.66%) were non-neoplastic lesions. Of the cases with NPHC, 38 (86.4%) had a second cancer diagnosis, while 6 (13.6%) were non-neoplastic. For FO only cases, 11 of 35 (31.4%) had follow up and 9 of 11 (81.8%) were concordant. For FCB cases, 6 out of 39 (15.4%) had follow up and 6 (100%) were concordant. For TCB cases, 9 out of 30 (30%) had follow up and 9 (100%) were concordant. A definite diagnosis was reached in 30/35, 39/39, and 29/30 cases in FO, FCB, and TCB, respectively. CONCLUSION: In summary, cytologic evaluation of omental lesions is an effective tool in providing accurate diagnosis and guiding further management. Also, the results based on our study show that the combined techniques are superior at reaching a definitive diagnosis.


Assuntos
Técnicas Citológicas , Atenção à Saúde , Omento/patologia , Neoplasias Peritoneais/patologia , Biópsia por Agulha Fina , Seguimentos , Humanos , Omento/cirurgia , Neoplasias Peritoneais/diagnóstico , Neoplasias Peritoneais/cirurgia
12.
Cytojournal ; 19: 7, 2022.
Artigo em Inglês | MEDLINE | ID: mdl-35510120

RESUMO

Objectives: Pleural fluid evaluation is an effective modality for identifying actionable genetic mutations to guide therapy in lung carcinoma. Clinicians requesting molecular studies often send large volumes of fluid to be processed that is not possible or cost effective and is hence not standard of practice in most cytopathology laboratories. We wanted to establish the characteristics of an adequate specimen that would yield reliable results with current molecular testing platforms. Material and Methods: A review of 500 malignant pleural effusions, from pulmonary and non-pulmonary sources, was undertaken over a 4-year period. Of these 44 cases (from 42 patients) that were positive for primary lung adenocarcinoma were included in the study. Molecular analysis was performed on 42 specimens. A complete next generation sequencing (NGS) panel was performed on 36 specimens. Individual testing for estimated glomerular filtration rate, KRAS, anaplastic lymphoma kinase, and ROS1 was performed on six specimens. The number of malignant cells and proportion of tumor to non-tumor nucleated cells (T: NT) on cell blocks was recorded as <20%, 20-50% and >50%. Results: The minimum volume on which a complete NGS panel could be performed was 20 ml with cell count of 1000 and T: NT proportion of 20-50%. The minimum number of tumor cells required for successful molecular analysis for T: NT proportion of <20%, 20-50%, and >50% was 300, 250, and 170 cells, respectively. Conclusion: We concluded that tumor cell proportion, rather than specimen volume, is of prime importance for determining the efficacy of pleural fluid for molecular studies. Evaluation of both absolute and relative numbers of tumor cells is critical for assessing the adequacy and predicting successful yield for molecular analysis.

13.
J Am Soc Cytopathol ; 11(6): 345-351, 2022.
Artigo em Inglês | MEDLINE | ID: mdl-36055933

RESUMO

INTRODUCTION: At present, GATA binding protein 3 (GATA-3) is the most frequently used diagnostic immunohistochemical (IHC) marker for breast carcinoma (BC). However, it is not specific and has very low sensitivity for triple-negative BC (TNBC). SRY-box transcription factor 10 (SOX-10) and trichorhinophalangeal syndrome type 1 (TRPS-1) have been suggested for inclusion in the diagnostic workup of TNBC. TRPS-1 has not been established in cytology specimens as a diagnostic IHC marker for metastatic BC (MBC). Hence, in the present study we evaluated the utility of TRPS-1 in diagnosing MBC in cytology specimens. MATERIALS AND METHODS: MBC cases diagnosed on cytology specimens from January to October 2020 were included in the present study. Only cases with hormonal status available and ≥20 tumor cells on cell blocks were included in the study. The cell blocks were assessed for TRPS-1, GATA-3, and SOX-10 IHC marker positivity (intensity and percentage of tumor cells). The results were correlated with the specimen type (fine needle aspiration [FNA] versus body fluid) and various BC prognostic subgroups. RESULTS: We analyzed 61 cases, including 33 body fluid and 28 FNA (13 lymph node, 10 bone, 2 liver, 2 soft tissue, and 1 lung) specimens. TRPS-1 had 97.2% positivity in ER/PR+ (estrogen receptor/progesterone receptor-positive) MBC compared with GATA-3, which had 100% positivity in the same group. TRPS-1 showed high positivity in 35 of 37 cases (94.6%) and intermediate positivity in 1 (2.6%) and was negative/low positive in 1 case (2.7%). In contrast, GATA-3 showed high positivity for all 37 cases (100%). SOX-10 showed positivity in only 1 of 37 cases (2.7%), with intermediate positivity. In the HER2+ (human epidermal growth factor receptor 2-positive) group, TRPS-1 showed high positivity in 5 of 7 cases (71.4%), intermediate positivity in 1 case (14.3%), and negativity in 1 case (14.3%). However, GATA-3 showed high positivity in 6 of 7 cases (85.7%) and negative/low positivity in 1 case (14.3%). SOX-10 was negative in all 7 cases. In TNBC, TRPS-1 showed high positivity in 16 of 17 cases (94%) and intermediate positivity in 1 (5.9%), and GATA-3 showed high positivity in 9 (53%), intermediate positivity in 2 (11.8%), and low positive/negative in 6 of the 17 cases (35.3%). TRPS-1 expression was significantly higher than GATA-3 expression for the number of positive cases (P = 0.07), mean percentage of positive tumor cells (P = 0.005), and intensity of reactivity (P = 0.005). SOX-10 expression was present in only 5 of 17 cases (29%), with a mean percentage of positivity in the tumor cells of 26.5% and intensity of 0.8. No differences were found in the IHC results between the different specimen types (FNA versus fluid) in any group. CONCLUSIONS: TRPS-1 is a highly sensitive new diagnostic IHC marker for breast carcinoma, with a similar positivity rate in ER/PR+ and HER2+ BC compared with GATA-3 and a higher positivity rate than GATA-3 and SOX-10 in TNBC in cytology specimens. In particular, when only a few clusters of tumor cells are present on the cell block, TRPS-1 can be highly useful, because its mean percentage of positive tumor cells and intensity are higher than those of other IHC markers.


Assuntos
Receptores de Progesterona , Neoplasias de Mama Triplo Negativas , Humanos , Biomarcadores Tumorais/metabolismo , Imuno-Histoquímica , Receptores de Estrogênio/metabolismo , Receptores de Progesterona/metabolismo
14.
BMJ Case Rep ; 14(8)2021 Aug 19.
Artigo em Inglês | MEDLINE | ID: mdl-34413035

RESUMO

BRAF (v-raf murine sarcoma viral oncogene homolog B1) and MEK (mitogen-activated protein kinase kinase) inhibitors have been shown to improve clinical outcomes in tumours presenting with mutations in the BRAF gene. The most common form of BRAF mutation is V600E/K and has been shown to occur in thyroid cancers. Treatment data for patients harbouring less frequent BRAF mutations are limited. In vitro studies have shown that mutations in codons 599-601 increase kinase activity similar to that in V600E mutations, which suggests that BRAF and MEK inhibitors could be an effective treatment option. Here, we report a case of a patient with thyroid carcinoma harbouring a rare amino acid insertion in codon 599 of the BRAF gene (T599_V600insT) treated with a BRAF and MEK inhibitor.


Assuntos
Oximas , Neoplasias da Glândula Tireoide , Animais , Humanos , Imidazóis , Camundongos , Oximas/uso terapêutico , Piridonas , Pirimidinonas , Neoplasias da Glândula Tireoide/tratamento farmacológico , Neoplasias da Glândula Tireoide/genética , Resultado do Tratamento
15.
Acta Cytol ; 54(5 Suppl): 863-6, 2010.
Artigo em Inglês | MEDLINE | ID: mdl-21053557

RESUMO

BACKGROUND: Sarcoidosis is an autoimmune disease of unknown origin characterized by the presence of noncaseating epithelioid cell granulomas in multiple organs. Sarcoidosislike lesions have been reported in patients who have a history of chronic hepatitis C with interferon treatment. CASE: A case of cutaneous sarcoidosis, clinically presenting with multiple skin nodules, occurred in a woman with a history of relapsed chronic hepatitis C with interferon therapy. Fine needle aspiration biopsy and excisional biopsy showed ill-defined, noncaseating granulomas. On further investigation, the patient was found to have systemic sarcoidosis. Special stains for infectious etiologies were negative. These findings were compatible with morphologic and clinical features seen in sarcoidosislike lesion induced by interferon. CONCLUSION; A nonnecrotizing granulomatous lesion in subcutaneous tissue might have many differential diagnoses, particularly in a cytology specimen. In this condition, understanding of clinical manifestations is critical for diagnosis. It helps practicing cytopathologists to be aware of this phenomenon of cutaneous sarcoidosis occurring in patients with chronic hepatitis C and interferon or antiviral therapies.


Assuntos
Hepatite C Crônica/complicações , Hepatite C Crônica/tratamento farmacológico , Interferons/uso terapêutico , Sarcoidose/complicações , Sarcoidose/patologia , Dermatopatias/complicações , Dermatopatias/patologia , Feminino , Granuloma/patologia , Humanos , Pessoa de Meia-Idade
16.
Int J Surg Pathol ; 28(3): 325-329, 2020 May.
Artigo em Inglês | MEDLINE | ID: mdl-31601140

RESUMO

Merkel cell carcinoma (MCC) is a rare entity that most commonly arises from the skin. Angiosarcoma (AS) is a rare malignancy with a predilection for elderly males, has endothelial differentiation and a notoriously poor prognosis despite aggressive therapy. Herein, we report an angiosarcoma colliding with a MCC, in a patient with a past medical history of squamous cell carcinoma, status-post radiation therapy. More specifically, our case represents a collision tumor, a rare entity composed of two histologically distinct neoplasms which coincide together at the same location. This case represents the first documented report of such a presentation. With that being said, its clinical course, prognosis, pathogenesis, and molecular profile, currently remains unclear. Importantly, neoplasms are increasingly being found to be associated with radiation therapy, of which our patient had received. Ultimately, however, with the lack of c-MYC immunohistochemical staining, and a short duration between radiation exposure and presentation, the AS in our case was likely coincidental.


Assuntos
Carcinoma de Célula de Merkel/patologia , Hemangiossarcoma/patologia , Neoplasias Primárias Múltiplas/patologia , Neoplasias de Tecidos Moles/patologia , Idoso de 80 Anos ou mais , Humanos , Masculino , Neoplasias Induzidas por Radiação/patologia , Neoplasias Cutâneas/radioterapia , Neoplasias Cutâneas/cirurgia , Carcinoma de Células Escamosas de Cabeça e Pescoço/radioterapia , Carcinoma de Células Escamosas de Cabeça e Pescoço/cirurgia
17.
Diagn Cytopathol ; 47(4): 259-267, 2019 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-30488606

RESUMO

INTRODUCTION: Currently, molecular studies are widely used as a guiding tool in further management of cytologically indeterminate thyroid nodules. At our institution, clinicians have recently expressed concern over receiving "less positive molecular results" upon switching from an extended 14 gene mutation panel (EGMP) to a 7 gene mutation panel (GMP). Our goal is to compare outcomes of these two tests in regards to the performance characteristics and clinical impact. MATERIALS AND METHODS: All thyroid fine-needle aspiration (FNA) biopsy specimens sent for molecular studies from 2016 to 2017 were retrospectively studied. Cytopathology diagnosis, pertinent clinical findings, molecular results, and follow-up (F/U) surgical and cytology diagnoses were recorded. RESULTS: Of the total 165 cases sent for molecular tests 86 (52%) were GMP and 79 (47%) EGMP. There were 21 (24%) and 40 (50%) cases with positive GMP and EGMP results, respectively. Within these positive cases (n = 61), there were a total of 33 (54%) patients who underwent surgical resection and 28 (45%) patients had no follow-up. The molecular findings and surgical pathologic diagnoses obtained are illustrated in Figures 1 through 4 for GMP and EGMP, respectively. CONCLUSIONS: The selection of molecular testing should be directed toward optimizing patient care and facilitate clinical management. This quality assurance study helped in understanding the complexities associated with test selection best suited for our institution and in educating clinicians.


Assuntos
Biomarcadores Tumorais/genética , Mutação , Nódulo da Glândula Tireoide/diagnóstico , Biomarcadores Tumorais/metabolismo , Biomarcadores Tumorais/normas , Biópsia por Agulha Fina/normas , Humanos , Técnicas de Diagnóstico Molecular/normas , Garantia da Qualidade dos Cuidados de Saúde , Nódulo da Glândula Tireoide/genética
18.
Diagn Cytopathol ; 47(5): 367-373, 2019 May.
Artigo em Inglês | MEDLINE | ID: mdl-30576096

RESUMO

BACKGROUND: EBUS-TBNA is a minimally invasive, reliable technique with high sensitivity and accuracy. ROSE plays a crucial role in triaging specimens to guide management. This study analyzes aspirates that were deemed "adequate" on ROSE, but inconclusive upon final cytologic interpretation. DESIGN: EBUS-TBNAs from 2015 and 2016 were retrospectively reviewed and analyzed for ROSE adequacy versus final cytologic diagnosis. Concurrent and subsequent procedures were evaluated to determine the outcome of ROSE-adequate cases with inconclusive final cytologic diagnosis of non-diagnostic (ND), atypical (ATY), and suspicious for malignancy (SUS). Interpretation at ROSE was determined to be "appropriate" if published criteria for lymph node adequacy were met. RESULTS: A total of 606 cases of EBUS-FNA with ROSE were obtained of which 61% were deemed adequate. 5% of cases deemed "adequate" at ROSE resulted in inconclusive final interpretation with 4 ND, 7 ATY, and 6 SUS. Their distribution, anatomic location, presence or absence of diagnostic aspirate, appropriateness of ROSE adequacy statement, and any concurrent or subsequent procedures on the same or different site as well as any impact on management was reviewed. Cytotechnologist (CT) experience ranged from 1 to 25 years. CONCLUSIONS: ROSE and final cytology discrepant cases formed a very small fraction of total number of EBUS-TBNA cases with onsite evaluation. None of these discordant cases had any major clinical impact. There will remain a small fraction of cases that will be inappropriately deemed as "adequate" at ROSE due to the challenging nature of the procedure.


Assuntos
Broncoscopia/normas , Aspiração por Agulha Fina Guiada por Ultrassom Endoscópico/normas , Neoplasias Pulmonares/patologia , Broncoscopia/métodos , Erros de Diagnóstico , Aspiração por Agulha Fina Guiada por Ultrassom Endoscópico/métodos , Humanos , Testes Imediatos/normas , Reprodutibilidade dos Testes
19.
Diagn Cytopathol ; 47(3): 172-180, 2019 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-30479006

RESUMO

BACKGROUND: The Milan System for Reporting Salivary Gland Cytopathology (MSRSGC) is based on risk stratification. Our study is a retrospective review of salivary gland fine needle aspiration cytology (FNAC) with the goal of determining the risk of malignancy (ROM) in each of the categories proposed by the MSRSGC. METHODS: FNAC of salivary gland lesions with corresponding surgical resection specimens were retrieved over a 5-year period. Metastatic tumors were excluded. BothFNAC and corresponding surgical resections were reviewed blindly and classified as per criteria published by the MSRSGC. The ROM for each of the diagnostic categories was determined and compared with the ROM published by the MSRSGC. RESULTS: The total number of entities and ROM in 199 reviewed cases were as follows: Nondiagnostic 18 (9.2%) (ROM 0%), non-neoplastic 4(2%) (ROM 0%), atypia of undetermined significance (AUS) 12(6%) (ROM 33%), benign neoplasm 118(59.2%) (ROM 0.8%), salivary gland neoplasm of uncertain malignant potential (SUMP) 22(11%) (ROM 40.9%), suspicious for malignancy 3(1.5%) (ROM 100%), malignant 22(11%) (ROM 100%). CONCLUSION: The ROM reported in our study was mostly concordant with ROM published by the MSRSGC. This classification is helpful for the management of categories; nondiagnostic, non-neoplastic, benign neoplasm, suspicious for malignancy and malignant. The management is not standardized for the category, salivary gland neoplasm of uncertain malignant potential, as clinical information plays an important role in planning surgical procedures at an individual basis. Further studies will need to be performed using this new classification to help define appropriate management and predict ROM more accurately.


Assuntos
Doenças das Glândulas Salivares/classificação , Doenças das Glândulas Salivares/patologia , Neoplasias das Glândulas Salivares/classificação , Neoplasias das Glândulas Salivares/patologia , Adulto , Idoso , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Estudos Retrospectivos , Fatores de Risco
20.
Acta Cytol ; 63(3): 198-205, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-30909285

RESUMO

OBJECTIVE: The objective is to study the efficacy of fine-needle aspiration biopsy (FNAB) and core-needle biopsy (CNB) in the diagnosis of lymphoma in a single institution. STUDY DESIGN: We retrospectively reviewed 635 FNAB/CNB cases performed in our institution to rule out lymphoma during a 4-year period and collected the relevant clinical and pathological information for statistical analysis. RESULTS AND CONCLUSIONS: This cohort comprised 275 males and 360 females, with a median age of 57 years. Among the 593 cases with adequate diagnostic materials for lymphoma work-up, 226 were positive for lymphoma, 286 were negative for lymphoma, and 81 were nondiagnostic. Each case had an FNAB, and 191 cases also underwent a CNB. The subclassification rate according to the WHO (2008) was 67% overall, 81% for the FNAB with CNB group, and 40% for the FNAB group. In the FNAB with CNB group, the subclassification rates for cases with and without a history of lymphoma were not significantly different. A definitive diagnosis of lymphoma relied on ancillary studies, but was not affected by location, or the needle gauge of CNB. Follow-up data revealed a high diagnostic accuracy of FNAB with CNB. In conclusion, the use of FNAB and CNB with ancillary studies is effective in providing a definitive diagnosis of lymphoma in our experience at the Northwell Health System.


Assuntos
Biópsia por Agulha Fina/métodos , Biópsia com Agulha de Grande Calibre/métodos , Linfonodos/patologia , Linfoma/patologia , Adulto , Idoso , Feminino , Humanos , Linfoma/classificação , Linfoma/diagnóstico , Masculino , Pessoa de Meia-Idade , Estudos Retrospectivos , Sensibilidade e Especificidade
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