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Well-differentiated neuroendocrine tumor, Grade 1 (NET, G1), in the hypopharynx is extremely rare. A 62-year-old woman was referred to our clinic with a tumor in the postcricoid area. The tumor was diagnosed NET on biopsy and there were no metastatic findings on CT, therefore we performed endoscopic resection. Histologic examination revealed well-differentiated neuroendocrine tumor, Grade 1. This case was an extremely rare and valuable case in which endoscopic images can be observed in detail. Endoscopic resection was performed and successful endoscopic and histological resection was achieved.
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Tumores Neuroendocrinos , Femenino , Humanos , Persona de Mediana Edad , Tumores Neuroendocrinos/diagnóstico por imagen , Tumores Neuroendocrinos/cirugía , Hipofaringe/diagnóstico por imagen , Hipofaringe/cirugía , Hipofaringe/patología , Endoscopía , BiopsiaRESUMEN
An unusual, small cell-predominant, high-grade glioneuronal tumor in the occipital lobe of a 49-year-old man that co-existed with a low-grade tumor is reported. The tumor consisted of two distinct components: the major component was a dense proliferation of primitive small cells showing bidirectional neuronal and glial differentiation; and the minor component consisted of a proliferation of well-differentiated astrocytes intermingled with mature neuronal cells. In the former component, perivascular pseudorosette-like or pseudopapillary growth reminiscent of ependymoma or papillary glioneuronal tumor (PGNT), respectively, was prominent, and hypertrophic astrocytic cells were located just outside the central blood vessels. Small cells were immunoreactive for Olig2, synaptophysin, and, less frequently, for glial fibrillary acidic protein. The low-grade component included Rosenthal fibers, hemosiderin deposition, and perivascular lymphocytic infiltration, thus closely resembling ganglioglioma. Cytogenetic studies did not demonstrate any mutations or rearrangements of the genes IDH1, IDH2, H3F3A, BRAF, FGFR1, or TERT promoter. The tumor recurred and spread along the ventricular surface three years after total removal. The small cell-predominant, high-grade component was considered to have evolved from the ganglioglioma-like, low-grade component. The histopathologic resemblance of the high-grade component to PGNT was a special feature.
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The nucleic acid integrity of head and neck squamous cell carcinoma (HNSCC) samples is poor, and the material available for genetic analysis is limited. Therefore, to expand the effectiveness of personalized medicine in patients with HNSCC, a new sampling method is needed. In total, 128 samples from 44 patients with HNSCC were studied: 32 genetic analysis samples (GASs) collected as 5 × 5 × 5 mm tissue fragments from resected large tumors and immediately embedded in a small formalin bottle within 10 min (i.e., the ischemic time), 43 primary tumor components (primary), 14 decalcified tumor (DC) samples, 32 metastatic tumors in lymph nodes (LNs), and 7 parakeratinized components (PKCs). The nucleic acid quality in the GAS, primary, DC, LN, and PKC groups was compared and next-generation sequencing (NGS) was performed. DNA integrity number and percentage of RNA fragments with > 200 nucleotides were significantly higher in the GAS group than those in the other groups. RNA integrity number decreased first in LN, followed by GAS, primary, and DC. No significant differences were observed in DIN, RIN and DV200 among the PKC, primary and LN. Following methyl green-pyronin staining, preserved DNA and RNA were not visualized in DC samples. Most NGS metrics did not differ significantly among primary, LN, and PKC samples. In conclusion, GASs should be collected during routine hospital activities. When the volume of viable materials is limited, PKCs should be considered for genetic analysis.
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Neoplasias de Cabeza y Cuello , Ácidos Nucleicos , Humanos , Carcinoma de Células Escamosas de Cabeza y Cuello/genética , Estudios Retrospectivos , Neoplasias de Cabeza y Cuello/genética , Neoplasias de Cabeza y Cuello/cirugía , ADN , Manejo de Especímenes , ARNRESUMEN
A woman in her 50s presented with lower abdominal pain. She had a diagnosis of multiple uterine myomas 3 years earlier, followed by menopause. CT showed a pelvic mass of 19.5×9.4×10.2 cm in size, containing a haemorrhagic component. It was assumed that the tumour was the previously diagnosed myoma, and that it had increased to 150% of the size noted 3 years ago. An emergent hysterectomy was performed, and the pathological diagnosis was a uterine leiomyoma, with no components suggestive of sarcoma or degeneration. We witnessed a rare case of acute abdomen caused by internodular bleeding of multiple myomas. We assumed that the source of bleeding was the vessels of the myoma pseudocapsule. These cases may be more likely to occur in patients with multiple myomas presenting around the commencement of menopause. For symptomatic relief, emergent hysterectomy is considered to be the best treatment.
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Abdomen Agudo , Leiomioma , Mioma , Neoplasias Uterinas , Femenino , Humanos , Neoplasias Uterinas/complicaciones , Neoplasias Uterinas/diagnóstico , Neoplasias Uterinas/cirugía , Abdomen Agudo/etiología , Posmenopausia , Leiomioma/complicaciones , Leiomioma/diagnóstico , Leiomioma/cirugía , HemorragiaRESUMEN
INTRODUCTION: In fine-needle aspiration of the breast (FNAB), the "atypical" category encompasses both benign and malignant lesions, particularly papillary proliferative lesions, as per the latest WHO classification. We aimed to reduce atypical cases and improve diagnostic accuracy by investigating the utility of cell block (CB) analysis. METHODS: FNAB CB samples (2018-2022) were reviewed using smear only or CBs. CB-based diagnosis was performed with 2D morphological analysis and immunocytochemistry using ER, CK5/6, p63, SMA, and CD56. Samples were reclassified as "benign," "atypical," "suspicious of malignancy," "malignant," or "insufficient/inadequate." Atypical cases were reexamined. Diagnoses were validated histologically. RESULTS: On examining the FNAB samples (n = 149; 32 atypical), 2D CB sectioning achieved a clearer definition of myoepithelial cells and fibrovascular cores than Papanicolaou staining. Immunocytochemistry was evaluated for 36 cases: estrogen receptor (ER)- and CK5/6+ tumors were reclassified as benign; ER+ and CK5/6- tumors as malignant; p63- tumors as invasive; papillary malignant tumors with a smooth muscle actin (SMA)+ fibrovascular core and p63- myoepithelial cells as encapsulated papillary carcinoma; and CD56+ carcinomas as neuroendocrine carcinoma. Diagnostic rates were as follows: benign (44% FNAB, 51% CB), atypical (21% FNAB, 3% CB), suspicious of malignancy and malignant (28% FNAB, 40% CB), and insufficient/inadequate (7% FNAB, 6% CB). CB achieved >85% sensitivity, specificity, and positive and negative predictive values. CONCLUSION: CBs represent 3D FNA cell morphology using 2D sections, enabling adaption of pathology criteria to the cytological material. Immunocytochemical staining of CBs can predict low nuclear grade papillary tumors and reduce atypical case frequency, improving diagnostic accuracy.
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Neoplasias de la Mama , Carcinoma , Femenino , Humanos , Biopsia con Aguja Fina/métodos , Mama/patología , Neoplasias de la Mama/diagnóstico , Neoplasias de la Mama/patología , Carcinoma/patología , Citodiagnóstico/métodos , Estudios Retrospectivos , Sensibilidad y EspecificidadRESUMEN
Solitary fibrous tumors (SFTs) are soft tumors (mesenchymal origin) that most likely develop from adult mesenchymal stem cells. SFTs are not common in the head and neck region, and the characteristics of tumors in this location are unclear. The present study describes the clinicopathological findings of 2 cases of SFTs arising in the parotid gland and buccal space, presenting as salivary gland tumors. The first case is a 76-year-old man presenting with a painless tumor on the right parotid gland who subsequently underwent partial superficial parotidectomy. According to the results of histopathological analysis, the tumor consisted of stellate and spindle-shaped cells proliferating on a mucous-like substrate. Immunohistochemical staining revealed that neoplastic cells were positive for CD34, vimentin, Bcl2, and STAT6. The second case is of a 64-year-old man presenting with a painless lump on his right cheek. Based on the findings of fine needle aspiration cytology, a tumor derived from myoepithelial cells of the minor salivary gland or a nonepithelial tumor was suspected. The patient underwent surgical resection via an intraoral approach. Histopathologically, the tumor consisted of spindle-shaped cells with rod-shaped or irregular nuclei. Immunohistochemical staining revealed that the neoplastic cells were positive for CD34, CD99, Bcl2, and STAT6. Briefly, SFT should be considered in the differential diagnosis of a well-marginalized lesion in the salivary gland and oral cavity. STAT6 immunohistochemistry is the most specific and sensitive method of diagnosing SFT. A thorough understanding of the morphological changes associated with SFT and their correlation with clinical, immunohistochemical, and molecular characteristics is important to avoid misdiagnosis.
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BACKGROUND: Adenoid ameloblastoma (AdAM) is a frequently recurrent tumor that shows hybrid histological features of both ameloblastoma and adenomatoid odontogenic tumor (AOT). AdAM is expected to be classified as a new subtype of ameloblastoma in the next revision of the World Health Organization (WHO) odontogenic tumor classification. However, whether AdAM is a histologic variant of ameloblastoma or AOT remains unclear. To establish a new category, genetic evidence indicating the tumor category is necessary. METHODS: We present a case of a 23-year-old Japanese woman with AdAM who underwent genetic/DNA analysis for ameloblastoma-related mutation using immunohistochemical staining, Sanger sequencing, and next-generation sequencing (NGS) analyses with reliable clinicopathological evidence. RESULTS: Immunohistochemical expression of BRAF p.V600E was diffusely positive for both ameloblastoma- and AOT-like components. Sanger sequencing and NGS analyses showed missense mutations in BRAF p.V600E (c.1799T > A), a gene that is commonly altered in ameloblastomas but not in KRAS, another gene associated with AOT. CONCLUSION: This case report is the first to provide genetic evidence on the ameloblastomatous origin of AdAM with a BRAF p.V600E mutation. A larger series of AdAM groups' molecular testing is needed to aptly classify them and prognosticate the best treatment.
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Tonsila Faríngea , Ameloblastoma , Tumores Odontogénicos , Femenino , Humanos , Adulto Joven , Adulto , Ameloblastoma/genética , Ameloblastoma/patología , Proteínas Proto-Oncogénicas B-raf/genética , Tonsila Faríngea/patología , Mutación , Tumores Odontogénicos/genéticaRESUMEN
Primary gastric rhabdomyosarcoma is extremely rare. An 87-year-old man visited our clinic with a chief complaint of abdominal pain. Computed tomography (CT) and 18F-fluorodeoxyglucose positron emission tomography-CT revealed a massive tumor originating from the muscularis propria of the stomach along with splenic vein tumor thrombosis. We diagnosed the patient with primary gastric rhabdomyosarcoma by an endoscopic ultrasound-guided fine-needle aspiration/biopsy.
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Rabdomiosarcoma , Estómago , Masculino , Humanos , Anciano de 80 o más Años , Tomografía Computarizada por Tomografía de Emisión de Positrones , Tomografía Computarizada por Rayos X/métodos , Fluorodesoxiglucosa F18 , Rabdomiosarcoma/diagnóstico por imagen , Biopsia por Aspiración con Aguja Fina Guiada por Ultrasonido Endoscópico/métodosRESUMEN
Degenerated tissues are frequently observed in malignant tumors, but are not analyzed. We investigated whether nuclear streaming and necrosis samples could be used for genetic analysis to expand the sample pool. A total of 81 samples were extracted from small cell carcinoma and lymphoma FFPE tissue blocks and classified into three histological cohorts: 33 materials with well-preserved tumor morphology, 31 nuclear streaming samples, and 17 necrosis samples. DNA and RNA integrity numbers, percentage of RNA fragments with >200 nucleotides, and next-generation sequencing quality metrics were compared among the cohorts. DNA quality did not significantly differ between nuclear streaming materials and materials with well-preserved morphology, whereas that of the necrosis samples was inferior. RNA quality decreased in the following order: materials with well-preserved morphology > nuclear streaming > necrosis. The sequencing metrics did not differ significantly between the nuclear streaming samples and materials with well-preserved morphology, and reliable variants were detected. The necrosis samples extracted from resections exhibited sequencing failure and showed significantly fewer on-target aligned reads and variants. However, variant allele frequency did not differ among the cohorts. We revelated that DNA in nuclear streaming samples, especially within biopsies, could be used for genetic analysis. Moreover, degenerated non-tumor cells should be counted when evaluating tumor content to avoid misinterpreting the variant allele frequency.
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BACKGROUND: Extranodal extension (ENE) is an adverse prognostic factor for oral squamous cell carcinoma (OSCC), and patients with OSCC along with ENE require neck dissection. In this study, we developed a novel ENE histology-based pathological predictor using MMP14 expression patterns in small biopsy specimens. METHODS: A total of 71 surgically resected tissue, 64 dissected lymph node (LN), and 46 biopsy specimens were collected from 71 patients with OSCC. Immunohistochemical analyses of total MMP14 expression in the tumour nest and cancer-associated fibroblasts (CAFs) were performed using the MMP14 co-scoring system (high- or low-risk). The association analysis of MMP14 expression in metastatic LNs was performed with respect to the presence and absence of ENE. Clinicopathological analyses and multivariate examinations were performed to assess the risks of metastasis and ENE presence. The predictive value of ENE and the impact of ENE and MMP14 expression on 5-year overall survival were examined. RESULTS: High-risk MMP14 expression was detected in metastatic LN specimens with ENE. MMP14 expression in tumour nests and CAFs and its overexpression at the tumour-stromal interface significantly correlated with the presence of ENE. The MMP14 co-scoring system was an independent risk predictor for ENE, with sensitivity, specificity, and accuracy of over 80% in biopsy samples; patients with a high risk in the MMP14 co-scoring system had significantly worse prognoses in both resections and biopsies. CONCLUSION: The MMP14 co-scoring system accurately predicted ENE presence and poor prognosis via immunohistochemical evaluation of small biopsies. This system is a simple, accurate, and inexpensive immunohistochemical approach that can be used in routine pathological diagnosis for effective treatment planning.
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Carcinoma de Células Escamosas , Neoplasias de Cabeza y Cuello , Neoplasias de la Boca , Humanos , Carcinoma de Células Escamosas de Cabeza y Cuello/patología , Carcinoma de Células Escamosas/patología , Neoplasias de la Boca/cirugía , Neoplasias de la Boca/patología , Estudios Retrospectivos , Extensión Extranodal/patología , Metaloproteinasa 14 de la Matriz , Pronóstico , Ganglios Linfáticos/patología , Neoplasias de Cabeza y Cuello/patología , Estadificación de NeoplasiasRESUMEN
We have recently shown that histological phenotypes focusing on clear and eosinophilic cytoplasm in clear cell renal cell carcinoma (ccRCC) correlated with prognosis and the response to angiogenesis inhibition and checkpoint blockade. This study aims to objectively show the diagnostic utility of clear or eosinophilic phenotypes of ccRCC by developing an artificial intelligence (AI) model using the TCGA-ccRCC dataset and to demonstrate if the clear or eosinophilic predicted phenotypes correlate with pathological factors and gene signatures associated with angiogenesis and cancer immunity. Before the development of the AI model, histological evaluation using hematoxylin and eosin whole-slide images of the TCGA-ccRCC cohort (n = 435) was performed by a urologic pathologist. The AI model was developed as follows. First, the highest-grade area on each whole slide image was captured for image processing. Second, the selected regions were cropped into tiles. Third, the AI model was trained using transfer learning on a deep convolutional neural network, and clear or eosinophilic predictions were scaled as AI scores. Next, we verified the AI model using a validation cohort (n = 95). Finally, we evaluated the accuracy of the prognostic predictions of the AI model and revealed that the AI model detected clear and eosinophilic phenotypes with high accuracy. The AI model stratified the patients' outcomes, and the predicted eosinophilic phenotypes correlated with adverse clinicopathological characteristics and high immune-related gene signatures. In conclusion, the AI-based histologic subclassification accurately predicted clear or eosinophilic phenotypes of ccRCC, allowing for consistently reproducible stratification for prognostic and therapeutic stratification.
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Carcinoma de Células Renales , Carcinoma , Aprendizaje Profundo , Neoplasias Renales , Humanos , Carcinoma de Células Renales/genética , Inteligencia Artificial , Fenotipo , Neoplasias Renales/genética , PronósticoRESUMEN
We report two cases of Schloffer tumor that required resection after radical colon cancer surgery because of suspected lymph node recurrence on contrast-enhanced (CE) CT and 18F-FDG-PET/CT. Case1 is a 69-year-old man with sigmoid colon cancer pStage IIA, and case2 is a 61-year-old man with descending colon cancer pStage IIIB.
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Thoracic SMARCA4-deficient undifferentiated tumors are a new type of neoplasm that commonly occur in the mediastinum, progress rapidly, and show a poorer prognosis. We report a case of thoracic SMARCA4-deficient undifferentiated tumor in the right thoracic cavity in a patient with a history of heavy smoking and presenting with respiratory distress and hemoptysis. Imaging showed pleural effusion and thickening. A diagnostic right pleural biopsy yielded multiple white nodules and pale bloody pleural effusion accumulated in the right thoracic cavity. Histopathologically, the tumor cells were large, some exhibited rhabdoid cytology, and they were surrounded by an infiltration of inflammatory cells. These tumor cells were negative for SMARCA4, p40, NUT, and claudin-4, leading to establishing a diagnosis of thoracic SMARCA4-deficient undifferentiated malignancy. We treated the patient with atezolizumab, carboplatin, and nab-paclitaxel. The patient achieved stable disease at 7 months during this study. Although there is no standard treatment of this disease, our reported treatment may contribute to improved prognosis, requiring further research.
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Derrame Pleural , Sarcoma , Neoplasias Torácicas , Biomarcadores de Tumor , ADN Helicasas , Humanos , Inhibidores de Puntos de Control Inmunológico , Proteínas Nucleares , Sarcoma/patología , Neoplasias Torácicas/patología , Factores de TranscripciónRESUMEN
Few cytological reports have described small-cell neuroendocrine carcinoma (SCNEC) in the female genital tract. In the present study, we describe a cytological case of SCNEC accompanied by adenocarcinoma, as well as high-grade squamous intraepithelial lesion (HSIL). A Japanese woman (42 years old) presented with abnormal genital bleeding. A conventional Papanicolaou smear revealed an inflammatory condition with three neoplastic components: SCNEC as irregular aggregates of neoplastic small round cells with nuclear molding and granular chromatin; adenocarcinoma as columnar cell clusters with peripherally located large nuclei, and HSIL as sheets or clusters of dysplastic basal-type squamous cells with irregular hyperchromatic nuclei. Accordingly, a cytodiagnosis of SCNEC with adenocarcinoma and HSIL was made. Owing to the rarity of cervical SCNEC, cytological diagnosis may be difficult. Due to its aggressive clinical behavior, the presence of an SCNEC component should be verified in any cytodiagnosis of adenocarcinoma or HSIL.
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Adenocarcinoma , Carcinoma in Situ , Carcinoma Neuroendocrino , Carcinoma de Células Pequeñas , Carcinoma de Células Escamosas , Lesiones Intraepiteliales Escamosas , Neoplasias del Cuello Uterino , Adenocarcinoma/diagnóstico , Adenocarcinoma/patología , Adulto , Carcinoma in Situ/patología , Carcinoma Neuroendocrino/patología , Carcinoma de Células Pequeñas/patología , Carcinoma de Células Escamosas/patología , Cuello del Útero/patología , Femenino , Humanos , Prueba de Papanicolaou , Neoplasias del Cuello Uterino/patología , Frotis VaginalRESUMEN
BACKGROUND: Ectopic odontogenic tumours are rare and difficult to diagnose. Consequently, they are occasionally misdiagnosed as other tumours and overtreated. Dentinogenic ghost cell tumours (DGCTs) are odontogenic neoplasms characterised by a CTNNB1 mutation, ghost cell appearance, and dentinoid-like calcification. Herein, we present a case of ectopic DGCT on the floor of a patient's mouth, providing reliable clinicopathological and genetic evidence of its odontogenicity for the first time. CASE PRESENTATION: A 72-year-old man presented with painless sublingual swelling. Imaging revealed a multi-lobulated, solid-cystic mass on the floor of his mouth. Cytological evaluation showed folded epithelial clusters composed of basaloid cells, keratinised material, and calcification. Histological analysis revealed a multi-cystic, cribriform to solid nest, with an odontogenic satellate reticulum-like epithelium, including ghost cells and dentinoid matrix deposition. Immunohistochemical analysis found that CK19, CK5/6, bcl-2, and p63 were diffuse positive, ß-catenin was focal positive in the nuclei, and the cells in the dentinoid matrix were positive for DMP1. The CTNTTB1 mutation was detected, leading to the final diagnosis of ectopic DGCT. There was no recurrence during the 6-month follow-up. CONCLUSIONS: Overall, we have presented a comprehensive clinical overview of DGCT and identified its pathological and genetic features. This report will aid in the recognition of this rare disease in the future and help to avoid misdiagnosis and overtreatment.
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Calcinosis , Tumores Odontogénicos , Anciano , Epitelio/patología , Humanos , Inmunohistoquímica , Masculino , Boca/patología , Mutación , Tumores Odontogénicos/diagnóstico , Tumores Odontogénicos/genéticaRESUMEN
BACKGROUND: Extranodal extension (ENE) is a poor prognostic factor for oral squamous cell carcinoma (OSCC). Identifying ENE by clinical and/or radiological examination is difficult, thereby leading to unnecessary neck dissections. Currently, no definitive predictors are available for ENE. Thus, we aimed to determine the histological predictors of ENE by routine histopathological examination using biopsy and surgically resected specimens. METHODS: This retrospective study included 186 surgically resected OSCC and 83 matched biopsy specimens. Clinical features associated with the tumor microenvironment, including desmoplastic reaction (DR), tumor budding (TB), and tumor-infiltrating lymphocytes (TILs), were evaluated using hematoxylin and eosin-stained primary OSCC and neck dissection specimens. These histological features were divided into two groups: DR-immature (DR-I) and DR-mature (DR-M); TB-high (TB-H) and TB-low (TB-L); and TILs-low (TILs-L) and TILs-high (TILs-H). Clinical depth of invasion (cDOI) and pathological DOI (pDOI) were adapted for biopsies and resections, respectively; DOI was evaluated as DOI > 10 mm and DOI ≤ 10 mm. The clinicopathological relationships between these histopathological features and ENE and the independent risk factors for ENE were analyzed. The histological predictors of ENE were evaluated. RESULTS: The histological status of DR, TILs, and TB present in biopsy and resection specimens showed high accuracy with that of ENE. DR-I, TILs-L, and TB-H were significantly associated with lymph node metastasis, cDOI, and pDOI. Bivariate and multivariate analyses revealed that TB-H and pDOI > 10 mm in resections were independent factors for the presence of ENE (ENE +). The combination of TB-H/pDOI > 10 mm in resection specimens showed high specificity (91%) and accuracy (83%) regarding ENE + . Although there proved to be no independent factors in biopsies, DR-I and TILs-L were significantly associated with ENE + (p < 0.001). The combination of DR-I/TILs-L/cDOI > 10 mm in biopsies exhibited high sensitivity and specificity with ENE + (70% and 77%, respectively, p < 0.001). These histological predictors could detect even minor ENE (< 2 mm). CONCLUSIONS: The tumor microenvironment status in primary OSCC was significantly associated with that of ENE, and TB-H was an independent risk factor for ENE. The histological status of DR-I/TILs-L/cDOI > 10 mm in biopsy specimens and TB-H/pDOI > 10 mm in resection specimens is a useful predictor of ENE.
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Carcinoma de Células Escamosas , Neoplasias de Cabeza y Cuello , Neoplasias de la Boca , Carcinoma de Células Escamosas/patología , Carcinoma de Células Escamosas/cirugía , Extensión Extranodal , Neoplasias de Cabeza y Cuello/patología , Humanos , Linfocitos Infiltrantes de Tumor/patología , Neoplasias de la Boca/patología , Neoplasias de la Boca/cirugía , Pronóstico , Estudios Retrospectivos , Carcinoma de Células Escamosas de Cabeza y Cuello/patología , Carcinoma de Células Escamosas de Cabeza y Cuello/cirugía , Microambiente TumoralRESUMEN
Loss of the polybromo-1 (PBRM1) protein has been expected as a possible biomarker for clear cell renal cell carcinoma (ccRCC). There is little knowledge about how PBRM1 immunohistochemical expression correlates with the histomorphological features of ccRCC and the endothelial expression of tumor vasculature. The present study evaluates the association of architectural patterns with the PBRM1 expression of cancer cells using a cohort of 425 patients with nonmetastatic ccRCC. Furthermore, we separately assessed the PBRM1 expression of the endothelial cells and evaluated the correlation between the expression of cancer cells and endothelial cells. PBRM1 loss in cancer cells was observed in 148 (34.8%) patients. In the correlation analysis between architectural patterns and PBRM1 expression, macrocyst/microcystic, tubular/acinar, and compact/small nested were positively correlated with PBRM1 expression, whereas alveolar/large nested, thick trabecular/insular, papillary/pseudopapillary, solid sheets, and sarcomatoid/rhabdoid were negatively correlated with PBRM1 expression. PBRM1 expression in vascular endothelial cells correlated with the expression of cancer cells (correlation coefficient = 0.834, p < 0.001). PBRM1 loss in both cancer and endothelial cells was associated with a lower recurrence-free survival rate (p < 0.001). Our PBRM1 expression profile indicated that PBRM1 expression in both cancer and endothelial cells may be regulated in an orchestrated manner.
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A 50-year-old woman was referred to our hospital for consultation for a suspected left adrenal tumor detected by ultrasonography during a health check. Computed tomography and magnetic resonance imaging revealed a 4.7×3.4 cm tumor in the retroperitoneal space near the adrenal gland. The patient subsequently underwent laparoscopic tumor resection. Using fluorescence in situ hybridization (FISH), the resected tumor was diagnosed as a retroperitoneal bronchial cyst. Here we present a case of a definitive diagnosis of a retroperitoneal bronchial cyst using FISH, and review the cases of retroperitoneal bronchial cyst in the literature.
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Neoplasias de las Glándulas Suprarrenales , Quiste Broncogénico , Quiste Broncogénico/diagnóstico por imagen , Quiste Broncogénico/cirugía , Femenino , Humanos , Hibridación Fluorescente in Situ , Imagen por Resonancia Magnética , Persona de Mediana Edad , Espacio Retroperitoneal/diagnóstico por imagenRESUMEN
Warthin-like mucoepidermoid carcinoma (MEC) is a novel and rare subtype of MEC and is characterized histopathologically by the presence of abundant lymphocytic infiltration and cystic changes. A small number of cytological reports of this MEC variant is currently available. The present study reported on the sixth cytological case of Warthin-like MEC, reviewed the cytological features of the tumour and discussed the cytological differential diagnosis. A 16-year-old Japanese female presented with a painful mass in the left parotid gland. Fine-needle aspiration for cytological examination of the parotid gland tumour was performed, followed by partial parotidectomy. Cytological examination revealed sheet-like and folded epithelial cell clusters in a mucinous background accompanying abundant lymphocytic infiltration. Epithelial clusters comprised round cells with mildly enlarged round to oval nuclei, polygonal cells with relatively rich cytoplasm and slightly enlarged round to oval nuclei. Certain polygonal cells contained intracytoplasmic mucin. Histopathological examination of the resected parotid gland tumour indicated multiple cystic lesions with abundant lymphocytic infiltration accompanying lymphoid follicle formation. The cysts were lined by intermediate cells with occasional mucinous cells. Fluorescence in situ hybridization using the surgically resected specimen indicated mastermind-like transcriptional coactivator 2 (MAML2) rearrangement, a characteristic of Warthin-like MEC. Consequently, the patient was diagnosed with Warthin-like MEC. The literature review revealed that the characteristic cytological features of Warthin-like MEC are the presence of intermediate cells and lack of oncocytic cells in the mucinous material under an abundant lymphocytic background. Clinicopathological features may help with a differential diagnosis, particularly from Warthin's tumour, and detection of MAML2 rearrangement is able to improve the accuracy of diagnosis.