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OBJECTIVES: Acinic cell carcinoma (AcCC) is often a challenging diagnosis on cytology. Recently, NOR-1 (NR4A3) has been demonstrated as a sensitive and specific marker for AcCC. Therefore, we conducted this study to evaluate NOR-1 expression in AcCC cytology specimens and to compare its reactivity in other salivary gland tumours (non-AcCC). METHODS: We retrospectively reviewed our database and selected cytology cases with available cell blocks, including 10 AcCC and 24 non-AcCC tumours (12 benign tumours and 12 malignant tumours). NOR-1 (1:50 dilution; SC393902 [H-7]; Santa Cruz Biotech) immunohistochemistry (IHC) was performed on all cases. RESULTS: All AcCC cases except two (2/10, 80%) showed positive nuclear staining of variable intensity for NOR-1, with the majority of cases (75%) demonstrating at least moderately intense nuclear expression. All non-AcCC cases were negative for NOR-1, demonstrating a specificity of 100%. CONCLUSION: We conclude that NOR-1 IHC is sensitive and very specific on cytology specimens and is able to distinguish AcCC from its mimickers reliably and classify them appropriately for further management.
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Carcinoma de Células Acinares , Receptores de Esteroides , Neoplasias das Glândulas Salivares , Humanos , Carcinoma de Células Acinares/diagnóstico , Carcinoma de Células Acinares/metabolismo , Carcinoma de Células Acinares/patologia , Imuno-Histoquímica , Estudos Retrospectivos , Biomarcadores Tumorais/metabolismo , Glândulas Salivares/patologia , Neoplasias das Glândulas Salivares/diagnóstico , Neoplasias das Glândulas Salivares/patologia , Proteínas de Ligação a DNA/metabolismo , Receptores de Esteroides/metabolismo , Receptores dos Hormônios Tireóideos/metabolismoRESUMO
OBJECTIVE: Medullary thyroid carcinoma (MTC) is a rare type of thyroid malignancy. Recently, a two-tier grading system (GS) for MTC has been suggested. We conducted this study to evaluate the generalizability, as well as application of recently proposed GS to our cohort of Medullary thyroid carcinoma (MTC) cases. METHODS: We assigned grades to MTC cases and divided them into two groups by using morphologic criteria only as suggested by recent studies: low-grade (LG, <5 mitosis per 2 mm2, and no necrosis) and high-grade (HG, ≥5 mitosis per 2mm2 or necrosis). RESULTS: A total of 59 MTC cases were evaluated and of those 52 (88 %) were LG and 7 (12 %) were HG. Vascular invasion (VI) (p = 0.017), distant metastasis (DM) (p < 0.0001), nuclear pleomorphism (NP) (p = 0.017) and prominent nucleoli (p = 0.03) were prominently noted in the HG group. After controlling for demographics using multivariate cox regression, tumor grade and necrosis remained significantly associated with the overall survival (HR = 22.7, p < 0.01 and HR = 11.1, p = 0.008, respectively). Upon comparing the cases with and without nodal disease, we found that nodal disease is more strongly associated with NP (p = 0.029), tumor fibrosis (p = 0.0001), VI (p = 0.001) and DM (p = 0.005). CONCLUSIONS: We applied the two-tier GS for MTC to our cohort of cases and found statistically significant differences in the overall survival among the two groups. Adding the grading to the pathology report communicates additional information regarding risk stratification in MTC.
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Carcinoma Neuroendócrino , Neoplasias da Glândula Tireoide , Humanos , Neoplasias da Glândula Tireoide/patologia , Carcinoma Neuroendócrino/diagnóstico , Carcinoma Neuroendócrino/patologia , PrognósticoRESUMO
Hyalinizing trabecular tumors are a follicular origin neoplasm of the thyroid that usually present as an asymptomatic, well circumscribed, solitary mass. However, diagnosis of a hyalinizing trabecular tumor may be challenging especially on fine needle aspiration cytology and requires careful examination of the specimen to rule out potential mimickers such as papillary thyroid carcinoma, medullary thyroid carcinoma, paraganglioma, other follicular patterned neoplasms, intrathyroidal parathyroid tissue, and metastatic disease. We will review the cytologic, histologic and molecular features of hyalinizing trabecular tumors that aid in distinction from these mimickers with overlapping morphologic features and help ensure proper diagnosis for appropriate management.
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Carcinoma Neuroendócrino/diagnóstico , Citodiagnóstico , Câncer Papilífero da Tireoide/patologia , Neoplasias da Glândula Tireoide/diagnóstico , Neoplasias da Glândula Tireoide/patologia , Carcinoma Neuroendócrino/patologia , Carcinoma Papilar/diagnóstico , Carcinoma Papilar/patologia , Citodiagnóstico/métodos , Humanos , Câncer Papilífero da Tireoide/diagnóstico , Glândula Tireoide/patologiaRESUMO
The presence of thyroid tissue outside of the thyroid gland may occur in various clinical settings and anatomic locations and includes both benign and malignant differential diagnoses. Some of these entities include thyroglossal duct cyst, lingual thyroid, parasitic nodule, thyroid tissue within a lymph node and struma ovarii. In routine daily practice, these entities do pose diagnostic challenges for the pathologists. Differential diagnostic considerations depend largely on the location of lesion and the histologic features. A definitive diagnosis may remain unclear in some cases while knowledge is still evolving in others i.e., incidentally detected bland appearing thyroid follicles in a lateral neck lymph node. This article aims to elaborate on the various entities characterized by thyroid tissue outside of the thyroid gland, both benign and malignant, and the relevant differential diagnostic considerations.
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Tireoide Lingual/patologia , Doenças Parasitárias/patologia , Cisto Tireoglosso/patologia , Disgenesia da Tireoide/patologia , Glândula Tireoide/patologia , Adulto , Diagnóstico Diferencial , Epitélio/patologia , Feminino , Humanos , Linfonodos/patologia , Pessoa de Meia-Idade , Doenças Parasitárias/complicações , Estruma Ovariano/patologia , Neoplasias da Glândula Tireoide/diagnóstico , Neoplasias da Glândula Tireoide/patologia , Nódulo da Glândula Tireoide/diagnóstico , Nódulo da Glândula Tireoide/parasitologia , Nódulo da Glândula Tireoide/patologiaAssuntos
Biópsia por Agulha Fina , Pescoço/patologia , Neoplasias/diagnóstico , Neoplasias Cutâneas/diagnóstico , Câncer Papilífero da Tireoide/diagnóstico , Citodiagnóstico , Feminino , Humanos , Pessoa de Meia-Idade , Neoplasias/complicações , Neoplasias/patologia , Nevo Pigmentado/complicações , Nevo Pigmentado/diagnóstico , Nevo Pigmentado/patologia , Nevo Pigmentado/cirurgia , Neoplasias Cutâneas/complicações , Neoplasias Cutâneas/patologia , Câncer Papilífero da Tireoide/complicações , Câncer Papilífero da Tireoide/patologia , Câncer Papilífero da Tireoide/cirurgiaRESUMO
OBJECTIVES: To evaluate the clinical significance of "atypical squamous cells, cannot exclude high-grade squamous intraepithelial lesion" ASC-H by comparing the original cytologic findings with follow-up tissue biopsies, and its association with high-risk HPV. METHODS: A total of 235,518 ThinPrep Pap tests were performed at our institution from January 2008 through December 2010, but only 727 (0.3%) of these cases were diagnosed as ASC-H. RESULTS: Of the 309 cases diagnosed as ASC-H on cytology for which follow-up histologic material was available, 120 (38.8%) were definitively diagnosed as high-grade dysplasia (CIN 2/3) and 75 (24.2%) showed features of low-grade dysplasia (CIN 1). We observed that the incidence of dysplasia in patients less than 30 years of age was 73.4% (113/154) and 48.3% (14/29) in patients greater than 49 years of age (p = 0.001). There were 71 cases for which high-risk HPV DNA testing was conducted. HPV DNA was found to be positive in 41 of the dysplastic cases (CIN 1 = 18 cases and CIN 2/3 = 23) and negative in six of the dysplastic cases (CIN1 = 2 and CIN2/3 = 4). CONCLUSION: We conclude that cases diagnosed as ASC-H should be followed-up with caution as they are strongly associated with dysplasia of any grade (63.1%), especially high-grade dysplasia (38.8%). Reflex HPV DNA testing is an important predictor of dysplasia with a positive predictive value of 87.2% in our study.
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Testes de DNA para Papilomavírus Humano , Neoplasias de Células Escamosas/patologia , Displasia do Colo do Útero/diagnóstico , Displasia do Colo do Útero/patologia , Neoplasias do Colo do Útero/patologia , Adulto , Biópsia , Feminino , Seguimentos , Humanos , Pessoa de Meia-Idade , Neoplasias de Células Escamosas/virologia , Teste de Papanicolaou , Infecções por Papillomavirus/diagnóstico , Infecções por Papillomavirus/virologia , Valor Preditivo dos Testes , Estudos Retrospectivos , Displasia do Colo do Útero/virologia , Neoplasias do Colo do Útero/virologia , Esfregaço VaginalRESUMO
OBJECTIVE: This study evaluates the diagnostic accuracy of axillary lymph node fine needle aspiration (FNA) cytology in breast cancer and correlates it with clinical parameters/outcomes. STUDY DESIGN: A total of 91 females underwent FNA of axillary lymph nodes at our institution from January 2007 to February 2013. The cases were classified as 'positive', 'negative for malignancy' and 'nondiagnostic'. RESULTS: Forty-six cases (50.5%) had a histologic follow-up (4.4 ± 3.1 months); of these, 22 (47.8%) were true positive, 7 (15.2%) were true negative, 2 (4.3%) were false negative, 5 (11%) were false positive and 10 (21.7%) were nondiagnostic. However, cytological review of all false positive and false negative cases confirmed the presence or absence of tumor, respectively. All false positive cases had undergone preoperative neoadjuvant chemotherapy, with no residual tumor present, and a treatment effect identified only histologically. Meanwhile, the 2 false negative cases involved micrometastasis (≤ 1.5 mm). Thus, if we exclude these false positive cases (complete responders), then the sensitivity, specificity, positive predictive value and negative predictive value were 91.7, 100, 100 and 77.8%, respectively. All preoperative FNA-positive axillary lymph nodes were spared from sentinel lymph node biopsy except for 3 of 27 (11.1%). CONCLUSION: We suggest that axillary lymph node FNA is a highly sensitive technique with a low false negative rate (4.3%) and a diagnostic accuracy of 93.5%.
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Biópsia por Agulha Fina , Neoplasias da Mama/secundário , Metástase Linfática/diagnóstico , Axila/patologia , Reações Falso-Negativas , Reações Falso-Positivas , Feminino , Humanos , Pessoa de Meia-Idade , Cuidados Pré-Operatórios , Sensibilidade e EspecificidadeRESUMO
OBJECTIVE: This study was conducted to compare the correlation between Pap smear and colposcopic biopsy findings in premenopausal and postmenopausal women. STUDY DESIGN: A total of 68,738 ThinPrep Pap smears were done in 2011 in our institution, and of these, 865 of the women (787 premenopausal and 78 postmenopausal) had subsequent colposcopic directed biopsies performed within 3 months of obtaining the results. RESULTS: We discovered that 52.5% of the Pap smears in postmenopausal women versus 33.6% in premenopausal women were classified as false positive (FP), with respect to the biopsy, and of these, 47.6 vs. 17% cases had no transformation zone (TZ) on the subsequent biopsies, respectively. Interestingly, with respect to high-risk human papilloma virus (hrHPV) testing in patients having both Pap smear and biopsies performed, we found the Pap smear diagnoses were a better predictor of positive hrHPV than the respective colposcopic biopsies. CONCLUSION: As many of the FP postmenopausal women had an absent TZ (47.6%) on biopsy, and because the majority (83.3%) of those which had hrHPV testing were positive, we suggest that this indicates a potential sampling error on biopsy, perhaps due to an inability to visualize the involved area in older women due to an upward migration of the TZ.
Assuntos
Pós-Menopausa , Pré-Menopausa , Displasia do Colo do Útero/diagnóstico , Neoplasias do Colo do Útero/diagnóstico , Esfregaço Vaginal/métodos , Adulto , Idoso , Colposcopia , Reações Falso-Positivas , Feminino , Humanos , Pessoa de Meia-Idade , Teste de Papanicolaou , Infecções por Papillomavirus/complicações , Infecções por Papillomavirus/diagnóstico , Neoplasias do Colo do Útero/virologia , Adulto Jovem , Displasia do Colo do Útero/virologiaRESUMO
BACKGROUND: Renal cell carcinoma rarely metastasizes to the pancreas. Diagnosing a neoplasm that is metastatic to the pancreas by fine-needle aspiration (FNA) cytology is often challenging. A detailed clinical history may prove to be beneficial. CASE REPORTS: A total of 729 pancreatic FNAs were performed from January 2005 through August 2012 at our institution. Among these, we found 3 patients with a prior history of a malignant renal neoplasm who presented with a pancreatic mass: 2 in the tail and 1 in the head. Radiographically, they ranged in size from 2.5 to 7.0 cm. Microscopic evaluation of cytologic material obtained during endoscopic ultrasound-guided FNA (EUS-FNA) revealed cohesive clusters of atypical cells with clear cytoplasm and prominent nucleoli surrounded by a thin capillary network. The neoplastic cells were immunoreactive with CD10 (cases 2 and 3). A diagnosis of metastatic clear cell renal cell carcinoma was rendered for each case based on the morphologic features and immunohistochemical staining pattern of the neoplastic cells. Histologic comparison with the available slides of the corresponding primary renal neoplasm confirmed the diagnosis. CONCLUSION: We conclude that EUS-FNA of pancreatic masses is an important, effective, and accurate diagnostic modality for early diagnosis of both primary and metastatic neoplasms of the pancreas.
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Biópsia por Agulha Fina , Carcinoma de Células Renais/secundário , Neoplasias Renais/patologia , Neoplasias Pancreáticas/secundário , Idoso , Citodiagnóstico , Feminino , Humanos , MasculinoRESUMO
BACKGROUND: Intraductal papillary neoplasm of the bile duct (IPNB) is a rare premalignant neoplasm that can progress to invasive adenocarcinoma. In this retrospective study, cases of IPNB were reviewed to examine cytomorphologic and molecular features. METHODS: IPNB cytology cases with histopathologic confirmation were retrieved from the pathology archives. The cytomorphologic features such as cellularity, architecture, cell type, and cellular details were analyzed. RESULTS: The cohort included 13 cases (six brushings, six fine-needle aspirations [FNA], and one combined brushing and FNA). The lesions involved common bile duct in nine cases (69%) and hepatic duct in four cases (31%). Original cytological diagnoses included adenocarcinoma (five, 38%), suspicious for adenocarcinoma (one, 8%), neoplasm (three, 23%), atypical (three, 23%), and reactive (one, 8%). The cytomorphologic features included moderate/high cellularity (12, 92%), papillary and/or complex papillary architecture (10, 77%), columnar cells (11, 85%), vacuolated cytoplasm (12, 92%), enlarged nuclei (13, 100%), and fine granular chromatin (12, 92%). Background mucin, necrosis and acute inflammation were seen in four (31%), four (31%), and two (15%) cases, respectively. KRAS testing was performed in nine cases with mutant KRAS found in five (56%). CONCLUSIONS: Our study demonstrated that IPNB cytology specimens were relatively cellular with a wide spectrum of cytomorphology; however, most cases harbored adenocarcinoma or high-grade dysplasia. The characteristic cytomorphologic features included papillary/complex papillary clusters of columnar cells with vacuolated cytoplasm, enlarged nuclei, and fine granular chromatin in relatively cellular specimens. KRAS mutations identified may have potential diagnostic and therapeutic implications.
Assuntos
Adenocarcinoma , Neoplasias dos Ductos Biliares , Neoplasias Pancreáticas , Humanos , Estudos Retrospectivos , Proteínas Proto-Oncogênicas p21(ras)/genética , Neoplasias dos Ductos Biliares/genética , Neoplasias dos Ductos Biliares/patologia , Ductos Biliares/patologia , Neoplasias Pancreáticas/diagnóstico , CromatinaRESUMO
Introduction and importance: Primary tumors of the heart are extremely rare occurrences. Among them, cardiac papillary fibroelastoma (CPF) is the second most common type. Although these tumors are usually benign, they can pose a risk of embolization, which may lead to severe complications like sudden death or embolization affecting the neurological, systemic, or coronary vasculature. Such complications can be life-threatening. Case presentation: In this report, the authors present the case of a 68-year-old woman who experienced ST-segment elevation myocardial infarction due to embolization from a large papillary fibroelastoma. To address the issue, the authors performed a minimally invasive surgical removal and resection of the aortic valve, followed by a histological examination to confirm the diagnosis. Clinical discussion: This case report discusses a rare occurrence of myocardial infarction caused by tumor embolization from a CPF. The patient presented with complete blockage of a coronary artery in the absence of atherosclerotic disease. Through a comprehensive workup, including transesophageal echocardiography, the CPF was identified as the source of embolization. Surgical resection of CPFs is curative, and recurrence has not been documented. Clinicians should consider CPFs in cases of coronary artery occlusion without atherosclerotic disease and employ transesophageal echocardiography for diagnosis. Prompt surgical intervention leads to an excellent prognosis and prevents recurrent embolization. Conclusion: This report emphasizes the importance of recognizing the potential complications associated with papillary fibroelastoma-induced embolization to the coronary arteries and highlights the need to mitigate the risk of such complications occurring.
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OBJECTIVES: Recent studies have shown that trichorhinophalangeal syndrome type 1 (TRPS1) is a sensitive and specific marker that shows positive staining in breast carcinoma. We conducted this study to evaluate the role of TRPS1 immunohistochemistry (IHC) in differentiating breast primary vs tumors from other primary sites in malignant pleural effusion cytology specimens (MPECSs). METHODS: We selected 61 MPECS cases with cell block material available to analyze TRPS1 IHC staining. Of these 61 cases, 38 cases were metastatic carcinoma (MC) from a breast primary. We primarily selected MC cases confirmed as breast origin based on GATA binding protein 3 IHC positivity, except in two of the cases. The remaining 23 MPECS cases were from various primary sites, including urothelial (n = 6), Müllerian (n = 6), lung adenocarcinoma (n = 6), malignant melanoma (MM; n = 3), and squamous cell carcinoma (SqCC; n = 2). RESULTS: TRPS1 expression was observed in 35 (92%) of 38 MCs of breast origin. The staining intensity was variable, with 18 (47%) cases showing strong nuclear expression. In comparison, no TRPS1 expression was seen in any cases of urothelial carcinoma, MM, and SqCC. However, four of six Müllerian MC cases demonstrated TRPS1 expression. CONCLUSIONS: TRPS1 is a new marker that can be used in an IHC panel to investigate breast origin in MPECS.
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Neoplasias da Mama , Derrame Pleural Maligno , Proteínas Repressoras , Biomarcadores Tumorais/genética , Neoplasias da Mama/genética , Neoplasias da Mama/patologia , Carcinoma de Células Escamosas , Feminino , Humanos , Neoplasias Pulmonares , Derrame Pleural Maligno/diagnóstico , Derrame Pleural Maligno/patologia , Proteínas Repressoras/genética , Neoplasias da Bexiga UrináriaRESUMO
BACKGROUND: Activating point mutations of the RAS gene (NRAS, HRAS, and KRAS) can be seen in benign and malignant thyroid tumors; among these, NRAS mutations are more commonly seen. This study was conducted to evaluate the thyroid risk of malignancy (ROM) associated with RAS mutations in thyroid fine-needle aspiration (FNA) at the authors' institution. METHODS: The authors searched their electronic database system between January 2015 and May 2021 for thyroid FNA cases with any type of RAS mutation. Molecular alterations were identified with the ThyroSeq Genomic Classifier, ThyGeNEXT (thyroid oncogene panel)/ThyraMIR (miRNA classifier), or ThyroSure gene panel. RESULTS: A total of 127 cases (age, 51 ± 14 years; 100 females and 27 males) were identified, and 72 had histologic follow-up. The overall ROM associated with RAS mutations (with or without any other molecular alterations) was 29%, whereas the ROM was lower (18%) with RAS mutations only. Isolated NRAS, HRAS, and KRAS mutation-associated ROMs were 15%, 27%, and 14%, respectively. Among these RAS-mutated cases, the cases with a Bethesda category IV cytologic diagnosis had a higher ROM than the cases with a category III diagnosis (38% vs 17%). Twenty-one histologically confirmed malignant cases were mostly classified on cytology as category IV lesions (14 of 34; 41%), and the remainder were either category III (6 of 35; 17%) or V lesions (1 of 1; 100%). CONCLUSIONS: This study demonstrated that the overall RAS mutation-associated ROM in thyroid FNA was intermediate (29%), and isolated HRAS mutations appeared to have a higher ROM (27%) than NRAS and KRAS mutations (15% and 14%, respectively).
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Neoplasias da Glândula Tireoide , Nódulo da Glândula Tireoide , Proteínas ras , Adulto , Idoso , Biópsia por Agulha Fina , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Mutação , Neoplasias da Glândula Tireoide/patologia , Nódulo da Glândula Tireoide/patologia , Proteínas ras/genéticaRESUMO
BACKGROUND: SMARCA4/BRG1-deficient tumors and those that have loss of SMARCA/BRG1 have been described as various aggressive carcinomas and sarcomas, including a subset of non-small cell lung carcinoma (NSCLC). Cytomorphologic features of NSCLCs are yet to be described. The objective of this study was to evaluate the cytomorphologic features, immunohistochemical profile, and molecular profile of SMARCA4/BRG1-deficient NSCLC (SMARCA4-dNSCLC). METHODS: The authors retrospectively searched for cases with SMARCA4/BRG1 functional loss alterations, which were identified in molecular studies and further confirmed by immunocytochemistry, and they reviewed the cytomorphologic features. Tumors with BRG1 loss were also stained with an extensive antibody panel. Molecular profiling and clinical information of the identified cases were scrutinized. RESULTS: In total, 12 cytopathology cases from different anatomic sites were included. All cases showed variable expression of cytokeratin irrespective of type. One-half of cases had glandular features, followed by squamoid features, and poorly differentiated features. The most common cytologic features included sheets or papillary architecture, round or oval cell shapes, nuclear enlargement, moderate-to-marked pleomorphism, and coarse chromatin. Two cases with poorly differentiated cytomorphology had a predominance of single cells, scant cytoplasm, and macronucleoli. Variable expression of epithelial markers was noted in all cases. TP53 was the most frequently co-mutated gene in SMARCA4-dNSLCs. CONCLUSIONS: This study demonstrates that SMARCA4-dNSCLCs can have a wide spectrum of cytomorphologic features, ranging from a relatively well differentiated adenocarcinoma to a poorly differentiated/undifferentiated carcinoma, with the majority of cases exhibiting some high-grade features, such as mitosis, apoptosis, necrosis, and marked pleomorphism.
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Carcinoma Pulmonar de Células não Pequenas , DNA Helicases , Neoplasias Pulmonares , Proteínas Nucleares , Fatores de Transcrição , Biomarcadores Tumorais/genética , Carcinoma Pulmonar de Células não Pequenas/genética , DNA Helicases/genética , Humanos , Imuno-Histoquímica , Neoplasias Pulmonares/genética , Neoplasias Pulmonares/patologia , Proteínas Nucleares/genética , Estudos Retrospectivos , Fatores de Transcrição/genéticaRESUMO
OBJECTIVES: Anaplastic thyroid carcinoma (ATC) is an aggressive malignancy, and early diagnosis, often aided by fine-needle aspiration (FNA), is key to improving patient prognosis. While the current literature describes some of the cytologic features (CFs) of this entity, a comprehensive examination of the CFs has not yet been performed. METHODS: We retrospectively searched our electronic database for ATC cases with available slides between January 2008 and December 2019. Cases were examined for 22 CFs and compared with a control group of differentiated thyroid carcinoma. RESULTS: A total of 18 ATC cases meeting our inclusion criteria were identified. Most cases showed moderate to high cellularity (83%) and epithelioid cytomorphology (83%). Architecture included either predominantly groups/clusters of tumor cells (56%) or single tumor cells (44%). The other CFs were as follows: nuclear enlargement (100%), nuclear crowding (89%), nuclear membrane irregularities (100%), multinucleated tumor cells (33%), and background acute inflammatory cells (50%). Of the CFs examined, statistically significant differences between ATC and the control groups were found in the following: nuclear pleomorphism, coarse/clumped chromatin, macronucleoli, apoptosis, and necrosis. CONCLUSIONS: Identification of key CFs in FNA coupled with the clinical history aids in the diagnosis of ATC and helps distinguish it from other mimickers.
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Carcinoma Anaplásico da Tireoide , Neoplasias da Glândula Tireoide , Biópsia por Agulha Fina , Humanos , Prognóstico , Estudos Retrospectivos , Carcinoma Anaplásico da Tireoide/diagnóstico , Carcinoma Anaplásico da Tireoide/patologia , Neoplasias da Glândula Tireoide/diagnóstico , Neoplasias da Glândula Tireoide/patologiaRESUMO
BACKGROUND: Mesenchymal tumors (MTs) of upper gastrointestinal tract (UGIT) can show morphologic overlap thus posing a diagnostic challenge. This study evaluated the role of endoscopic ultrasound-guided fine needle aspiration (EUS-FNA) cytology in the diagnosis of UGIT-MTs and impact of rapid onsite evaluation (ROSE). METHODS: We retrospectively search our electronic database between January 2001 and August 2019 for cases that underwent EUS-FNA for a submucosal/or intramural upper GI tract mass forming lesions. Data pertinent to immunostain expression in UGIT-MTs was also collected. RESULTS: We identified 139 cases, of which 72 cases had subsequent surgical resection. The cytologic diagnoses included nondiagnostic, negative, atypical, suspicious for neoplasm and positive for neoplasm (PFN) in 11, 7, 11, 10, and 100 cases, respectively. Diagnosis of PFN was rendered in 51 of 69 cases with ROSE (74%) and in 49 of 70 cases without ROSE (70%). However, the cases with ROSE had a higher percentage of cases being precisely classified than without ROSE (86% vs 61%, P < .05). On comparison of cytologic cases with cell block (CB) (n = 118) and without CB (n = 21), ROSE was performed in 67 (57%) and 2 (10%) cases, respectively (P < .01). All the cases with diagnosis of PFN were confirmed on subsequent surgical resection. CONCLUSION: EUS-FNA has a diagnostic yield of 72% for UGIT-MTs. ROSE could improve diagnostic performance by further classifying MTs, probably via securing adequate lesional material for cell block for additional ancillary testing and precise diagnosis.
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Neoplasias Gastrointestinais/diagnóstico , Neoplasias Gastrointestinais/patologia , Trato Gastrointestinal Superior/patologia , Aspiração por Agulha Fina Guiada por Ultrassom Endoscópico/métodos , Feminino , Seguimentos , Humanos , Masculino , Pessoa de Meia-Idade , Estudos RetrospectivosRESUMO
BACKGROUND: Hürthle cell features are frequently observed on the fine-needle aspiration (FNA) cytology of thyroid nodules and often pose a diagnostic challenge because of a significant overlap between cytomorphologic features seen in benign and malignant lesions. Molecular alterations (MAs) associated with these lesions are not well described. The objective of the current study was to evaluate the molecular profile of Hürthle cell lesions classified as Hürthle cell neoplasm (HCN) on cytologic evaluation. METHODS: The authors retrospectively reviewed their electronic database for cytologic diagnoses of HCN from January 1, 2017 to March 31, 2020. RESULTS: In total, 279 cases from 275 patients who had a diagnosis of HCN were included in the study. Molecular testing results were available in 85 cases (51 with MAs and 34 without MAs) and, of those, 42 had histologic follow-up available. Eight of 10 malignant cases had MAs, whereas the remaining 2 cases were negative for MAs. The most frequently encountered predominant genetic alterations or classifier findings were chromosome copy number alterations (n = 15), followed by NRAS (n = 8), KRAS (n = 7), suspicious (n = 6), EIF1AX (n = 4), TSHR (n = 3), gene overexpression (n = 3), positive microRNA classifier (n = 2), and 1 each of BRAF K601E, TERT, and HRAS mutations. One hundred thirty-seven cases had histologic follow-up available; of those, 28 were classified as malignant, and 109 were classified as benign (neoplastic and nonneoplastic). The overall risk of malignancy associated with HCN was 20%, and the risk of HCN with MAs was 25%. CONCLUSIONS: The cytologic diagnosis of HCN includes various MAs without any obvious trend, and most malignant cases (80%) have some type of MA.
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Adenoma Oxífilo/diagnóstico , Biomarcadores Tumorais/genética , Citodiagnóstico/métodos , Técnicas Citológicas/métodos , Neoplasias da Glândula Tireoide/diagnóstico , Adenoma Oxífilo/genética , Idoso , Biópsia por Agulha Fina , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Estudos Retrospectivos , Neoplasias da Glândula Tireoide/genéticaRESUMO
OBJECTIVES: To evaluate the role of endoscopic ultrasound-guided fine needle aspiration cytology in identifying mucinous cystic lesions (MCLs) in histologically proven cases of intraductal papillary mucinous neoplasm (IPMN) or mucinous cystic neoplasm (MCN) and risk of malignancy associated with each cytologic category based on the Papanicolaou Society of Cytopathology (PSC) guidelines. METHODS: All resected cases with histologic diagnosis of IPMN or MCN at our institution from January 1, 2004, to August 31, 2019, with associated cytology were included. Available cytology slides of nondiagnostic (ND), negative/benign (BN), and atypical cytology (AC) cases were reviewed and reclassified based on the PSC guidelines. RESULTS: A total of 120 cases were identified, including 57 IPMNs with low-grade or moderate dysplasia (LGD/MD) and high-grade dysplasia (HGD), 34 MCNs with LGD/MD or HGD, and 29 IPMNs with invasive malignancy. After cytology slide review and reclassification, we observed that ND and BN cases were paucicellular and lacked ancillary testing (carcinoembryonic antigen levels or KRAS mutation analysis). The risk-of-malignancy rates were 33% for ND, 11% for BN, 28.5% for AC, 17% for MCL, and 100% for suspicious/positive cytologic diagnosis. CONCLUSIONS: A multidisciplinary approach including combined use of cytology and ancillary testing is helpful in establishing a diagnosis of MCL and identifying associated malignancy.