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BACKGROUND: Somatic mutations in the EGFR gene occur in about 50% of non-small cell lung cancers, with the T790M mutation significantly contributing to secondary resistance against EGFR-TKI drugs. However, EGFR T790M germline mutations rarely occur. CASE PRESENTATION: In this study, we report a case of a lung adenocarcinoma family lineage linked to a germline EGFR T790M mutation. The main subject was diagnosed with stage IV lung adenocarcinoma and experienced a 19-month period without disease progression while treated with Osimertinib. We collected both clinicopathological and familial data from a patient with lung adenocarcinoma. Next-generation sequencing of 40 key genes was performed on the proband's tumor tissue. To detect EGFR germline mutations, Sanger sequencing was conducted on peripheral blood mononuclear cells from the proband and his two daughters. Mutations such as EGFR T790M, EGFR 19-Del, TP53, and PIK3CA were identified in the proband's lung cancer tissue. Additionally, germline EGFR T790M mutations were confirmed in the proband and his daughters through sequencing of their peripheral blood samples. CT scans revealed multiple pulmonary nodules in both daughters. CONCLUSIONS: These observations suggest that germline mutations in EGFR T790M could be strongly linked to a familial predisposition to lung cancer.
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Epidermoid cysts are prevalent noncancerous cutaneous lesions known to exhibit unusually extended periods of growth. In this study, we present a remarkable case of an epidermoid cyst located on the scalp, which exhibited a growth period of 76 years, the longest growth time documented in the literature to date. The presence of the mass was noted at birth, and it exhibited gradual growth throughout the years, with a notable acceleration observed during the final 2 years. The patient underwent a surgical excision, and the histopathological analysis was consistent with epidermoid cyst, featuring localized rupture and demonstrating foreign body granulomatous inflammation. This case highlights the ability of epidermoid cysts to manifest as slow-growing entities over an exceptionally prolonged timeframe. Furthermore, instances of rapid growth may be attributed to a combination of mass rupture and inflammatory processes.
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Malignant adenomyoepithelioma(MAME)of the breast is a rare tumor with an incidence less than 1% of primary breast cancer.The low incidence and diverse histomorphology pose challenges to the accurate diagnosis and clinical management of MAME.This paper reports a case of MAME of the breast with an intraductal papillary growth pattern and summarizes the clinical features,pathological features,diagnosis,treatment,and prognosis of MAME of the breast in the last 5 years.
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Adenomioepitelioma , Neoplasias de la Mama , Humanos , Adenomioepitelioma/patología , Femenino , Neoplasias de la Mama/patología , Persona de Mediana EdadRESUMEN
Objective To investigate the fine needle aspiration cytology and differential diagnosis of hyalinizing trabecular tumor (HTT) of the thyroid.Methods The fine needle aspiration smears of four HTT cases with histopathological controls were analyzed,which were then combined with the histopathological changes and immunophenotypes for diagnosis.The key points of cytological diagnosis and the differential diagnosis of HTT were then summarized.Results The fine needle aspiration cytology showed that the tumor cells were scattered,presenting as partially cohesive clusters or clusters with trabecular manifestations.The tumor cells were polygonal or spindle,with medium or rich cytoplasm.The nuclei were oval or short spindle,with fine granular chromatin,visible small nucleoli,common nuclear grooves and nuclear pseudoinclusions,and irregular outline,which demonstrated the nucleus characteristics of papillary thyroid carcinoma.The interstitium showed transparent basement membrane-like material deposition,loose tumor cell clusters,trabecular or syncytial structure,radially distributed tumor cells around the hyaline-like material,rich eosinophilic or dichromophile cytoplasm,elongated nuclei,no papillary structure or fibrovascular axis,and no psammoma bodies.Histopathology showed tumor cells arranged in beam and organoid,transparent basement membrane-like material deposition between trabecular beams,and polygonal or spindle cells containing fine granular eosinophilic cytoplasm and round or oval nuclei with common nuclear grooves and nuclear pseudoinclusions.Conclusion Combining the ultrasound results with the arrangement,interstitial components,and cytological characteristics of tumor cells,we suggest that Ki-67(MIB-1)staining can be employed to assist diagnosis and improve the diagnostic accuracy of HTT or intraoperative freezing can be adopted for further diagnosis.
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Neoplasias de la Tiroides , Humanos , Biopsia con Aguja Fina/métodos , Neoplasias de la Tiroides/cirugía , Cáncer Papilar Tiroideo/diagnóstico , Diagnóstico DiferencialRESUMEN
Cranial coronal T1-weighted magnetic resonance imaging with contrast enhancement showed a sellar irregular lesion (Figure A). Hematoxylin and eosin staining showed two different morphologies. The majority of tumor cells had medium-sized to large cells with a high nucleus to cytoplasm ratio, vesicular nuclei with prominent nucleoli, and poor adhesion (Figure B), which revealed positive expression of CD20 by Immunohistochemistry (Figure C). The other component showed abundant cytoplasm, spindle-like to ovoid nucleus and rare mitotic figures (Figure D). These tumor cells were positive for Pit-1 (Figure E) and perinuclear punctated structures immunopositive for CK18 (Figure F).
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Adenoma/diagnóstico por imagen , Linfoma de Células B Grandes Difuso/diagnóstico por imagen , Neoplasias Primarias Múltiples/diagnóstico por imagen , Hipófisis/diagnóstico por imagen , Neoplasias Hipofisarias/diagnóstico por imagen , Adenoma/patología , Adenoma/cirugía , Adulto , Humanos , Linfoma de Células B Grandes Difuso/patología , Linfoma de Células B Grandes Difuso/cirugía , Imagen por Resonancia Magnética , Masculino , Neoplasias Primarias Múltiples/patología , Neoplasias Primarias Múltiples/cirugía , Neuroendoscopía , Hipófisis/patología , Hipófisis/cirugía , Neoplasias Hipofisarias/patología , Neoplasias Hipofisarias/cirugíaRESUMEN
PURPOSE: The incidence of thyroid cancer has increased annually, and has a heavy psychological and economic burden on the society and individuals. Based on thyroid cancer data from patients treated in Liaocheng People's Hospital in 2017, with Chinese national and regional characteristics, in this study we addressed the controversy of which initial thyroid surgical mode, lobectomy, or total thyroidectomy is the most effective. PATIENTS AND METHODS: Clinical and pathological data from 552 patients with thyroid cancer, who were initially diagnosed and treated surgically, were collected from the Department of Thyroid Surgery. Among them, 40 patients underwent endoscopic surgery, with resection, including lobectomy + central lymph node dissection of the affected lobe, while 512 cases underwent total thyroidectomy + central lymph node dissection. RESULTS: The metastasis rate for all patients was 59.42%, with lymph node metastasis of papillary thyroid microcarcinoma of 46.92%; however, for patients with tumors >2 cm, the proportion developing metastasis was increased to 77.53%. CONCLUSION: In thyroid cancer, rates of neck lymph node metastasis are high, particularly among patients with risk factors for poor prognosis. Our data suggest that initial treatment should comprise at least total thyroidectomy + central lymph node dissection in China, at least in tumors larger than 1 cm, to avoid the risks associated with secondary surgery and effects on patient quality of life.
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Carcinoma Papilar , Neoplasias de la Tiroides , Carcinoma Papilar/cirugía , Humanos , Ganglios Linfáticos , Calidad de Vida , Estudios Retrospectivos , Neoplasias de la Tiroides/cirugía , TiroidectomíaRESUMEN
INTRODUCTION: Based on thyroid cancer data from patients treated in Liaocheng People's Hospital in 2017, with Chinese national and regional characteristics, in this study we addressed the controversy of which initial thyroid surgical mode, lobectomy or total thyroidectomy, is most effective. PATIENTS AND METHODS: Clinical and pathological data from 552 patients with thyroid cancer, who were initially diagnosed and treated surgically, were collected from the Department of Thyroid Surgery. Among them, 40 patients underwent endoscopic surgery, with resection including lobectomy + central lymph node dissection of the affected lobe, while 512 cases underwent total thyroidectomy + central lymph node dissection. RESULTS: The metastasis rate for all patients was 59.42%. Further, among patients with bilateral or multiple tumors or capsule invasion, the proportions who developed metastatic disease were 63.54% and 71.19% and 67.46%, respectively. Meanwhile, the incidence of contralateral accidental malignancy was 7.25% after postoperative paraffin pathology. DISCUSSION: Rates of neck lymph node metastasis are high, particularly among patients with risk factors for poor prognosis. It is recommended that, among patients with risk factors, initial treatment should comprise at least total thyroidectomy + central lymph node dissection in China, to avoid the risks associated with secondary surgery and effects on patient quality of life.
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PURPOSE: Phosphoinositide 3-kinase (PI3K) and the downstream Akt/mammalian target of rapamycin (mTOR) pathway are central to the control of cell proliferation and survival. Although abnormal activation of this pathway has been well established in a variety of tumours, limited studies are available on synovial sarcoma. The aim of this study was to investigate the expression of several key proteins of those pathways in synovial sarcomas and to correlate the expression of these proteins with clinicopathologic features and prognosis. PATIENTS AND METHODS: A total of 174 patients with synovial sarcomas were recruited for this study. The phosphorylation status of Akt, mTOR, and eukaryotic translation initiation factor 4E binding protein (4E-BP1) was measured by immunohistochemistry assays in formalin-fixed, paraffin-embedded samples. Correlations between the expression levels of these proteins and clinicopathologic features and prognosis were analysed. RESULTS: The positive rates of phosphorylated (p)Akt, pmTOR, p4E-BP1, and CyclinD1 were 62.7%, 55.6%, 47.1%, and 52.6%, respectively. The positive results of pmTOR, pAkt, and downstream p4E-BP1 were correlated with each other. The positive pAkt, pmTOR, p4E-BP1, and CyclinD1 results were more highly expressed in head and neck and visceral tumours, and positive p4E-BP1 results were correlated with larger size and larger areas of necrosis. In multivariate analysis of clinicopathologic factors, head and neck and visceral location, large tumour size, larger areas of necrosis and frequent mitosis were confirmed as risk factors for shorter overall survival. Positive pAkt, pmTOR and p4E-BP1 results were correlated significantly with shorter overall survival, and CyclinD1 was not in the univariate analysis. The positive pmTOR, pAkt, p4E-BP1, and CyclinD1 results were significantly poor prognostic factors for overall survival, and only positive p4E-BP1 results were significantly associated with shorter event-free survival in multivariate analysis. CONCLUSION: This study demonstrated the high expression of pAkt, pmTOR, and p4E-BP1 associated with aggressive clinical behaviour in synovial sarcomas and provided evidence for prognostic evaluation and targeted therapy.
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Supratentorial extraventricular ependymomas (STEEs) are relatively rare ependymomas, and their pathologic and genetic characteristics are still poorly understood. The aim of this study was to determine the histologic, immunohistochemical, and RELA fusion features, as well as to clarify in more detail the clinical courses of STEEs. Data from a total of 43 patients with STEEs was analyzed retrospectively. The status of RELA fusion was evaluated using fluorescence in situ hybridization. The expression levels of L1CAM, p65, cyclin D1, and p53 were assessed using immunohistochemistry. Progression-free survival and overall survival were calculated via Kaplan-Meier estimation using the log-rank test. Among all 43 STEEs, 65.1% (28/43) are positive for RELA fusion. Interestingly, almost half of the patients with RELA fusion-positive ependymomas are adults (13/28), and 89.3% (25/28) cases are anaplastic ependymomas, which suggests that RELA fusion testing is necessary in adults with STEEs. We investigated the immunohistochemical status of p65, L1CAM and CCND1 protein expression for their ability to predict RELA fusion status. RELA fusion-positive STEEs are frequently associated with expression of p65 (85.2%), L1CAM (85.2%), and CCND1 (81.5%). The accuracy of predicting RELA fusion status was much higher when the expression of p65 and L1CAM was combined, that is, when both were immunopositive. The status of RELA fusion, p53 overexpression, and extent of tumor resection are significantly associated with prognosis.
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Biomarcadores de Tumor/genética , Ependimoma/genética , Fusión Génica , Inmunohistoquímica , Hibridación Fluorescente in Situ , Neoplasias Supratentoriales/genética , Factor de Transcripción ReIA/genética , Adolescente , Adulto , Biomarcadores de Tumor/análisis , Biopsia , Niño , Preescolar , Ciclina D1/análisis , Progresión de la Enfermedad , Ependimoma/química , Ependimoma/patología , Ependimoma/cirugía , Femenino , Predisposición Genética a la Enfermedad , Humanos , Lactante , Masculino , Persona de Mediana Edad , Molécula L1 de Adhesión de Célula Nerviosa/análisis , Valor Predictivo de las Pruebas , Supervivencia sin Progresión , Estudios Retrospectivos , Neoplasias Supratentoriales/química , Neoplasias Supratentoriales/patología , Neoplasias Supratentoriales/cirugía , Factores de Tiempo , Factor de Transcripción ReIA/análisis , Proteína p53 Supresora de Tumor/análisis , Adulto JovenRESUMEN
Overexpression of GOLPH3 (Golgi phosphoprotein 3, 34 kDa) is associated with the progression of many solid tumor types leading to an unfavorable clinical outcome. The present study examined the association between GOLPH3 expression and tumor development, clinicopathological factors, and prognosis of epithelial ovarian carcinoma. GOLPH3 expression was examined by immunohistochemistry in 18 normal ovarian samples, 28 benign tumors, 55 serous borderline ovarian tumors, and 135 epithelial ovarian carcinomas. The association of GOLPH3 expression with clinical characteristics, response to chemotherapy, and overall survival of epithelial ovarian carcinoma patients was analyzed on fresh tissue samples. GOLPH3 mRNA and protein expression in ovarian cancer and normal ovarian tissues were detected by real-time quantitative RT-PCR and Western blotting, respectively. The results are the following: (1) GOLPH3 immunostaining localized to the cytoplasm in two patterns, condensed into large granules with perinuclear distribution, and dispersed in the cytoplasm as fine granules. (2) GOLPH3 expression was higher in epithelial ovarian carcinoma than in normal ovarian tissues at the mRNA and protein level. The frequency of high-level expression of GOLPH3 increased progressively from benign (cystadenoma) to borderline neoplasms to malignant lesions. (3) Dispersed cytoplasmic GOLPH3 expression in epithelial ovarian carcinoma patients was highly correlated with FIGO stage (p < 0.001), tumor histological grade (p = 0.003), lymph node involvement (p = 0.001), and chemotherapy response (p = 0.034). (4) A dispersed pattern of GOLPH3 expression was an independent prognostic factor for poor overall survival. Patients with low dispersed cytoplasmic GOLPH3 expression had significantly longer overall survival than patients with high dispersed cytoplasmic expression. In contrast, GOLPH3 condensed expression was not correlated with clinicopathological features, chemotherapy response, or prognosis. GOLPH3 gene expression might play a role in tumorigenesis in epithelial ovarian carcinoma as upregulation of GOLPH3 expression is associated with a more aggressive tumor phenotype. GOLPH3 immunohistochemistry may be of value to predict the outcome of ovarian carcinoma patients.
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Proteínas de la Membrana/biosíntesis , Proteínas de Neoplasias/biosíntesis , Neoplasias Glandulares y Epiteliales/genética , Neoplasias Ováricas/genética , Adulto , Anciano , Biomarcadores de Tumor/metabolismo , Carcinoma Epitelial de Ovario , China/epidemiología , Progresión de la Enfermedad , Femenino , Humanos , Proteínas de la Membrana/genética , Persona de Mediana Edad , Proteínas de Neoplasias/genética , Neoplasias Glandulares y Epiteliales/metabolismo , Neoplasias Glandulares y Epiteliales/mortalidad , Neoplasias Glandulares y Epiteliales/patología , Neoplasias Ováricas/metabolismo , Neoplasias Ováricas/mortalidad , Neoplasias Ováricas/patología , PronósticoRESUMEN
Though many studies were published to assess the relationship between p21 Ser31Arg polymorphism and cervical cancer, there was no definite conclusion on this association. To provide a quantitative assessment of the relationship between p21 Ser31Arg polymorphism and cervical cancer, we performed a meta-analysis of 10 eligible studies (1,539 cases and 2,161 controls). All those 10 studies were from Asians. The odds ratios (OR) with 95% confidence intervals (95%CIs) were used to assess the strength of the association, and the pooled ORs were calculated for the codominant model (ArgArg vs. SerSer), the dominant model (ArgArg/SerArg vs. SerSer), and the recessive model (ArgArg vs. SerSer/SerArg). Meta-analysis of those 10 studies showed that there was no association between p21 Ser31Arg polymorphism and cervical cancer risk in Asians under all three models (ArgArg vs. SerSer: OR = 1.04, 95%CI 0.66-1.65, P = 0.86, I(2) = 78%; ArgArg/SerArg vs. SerSer: OR = 0.93, 95%CI 0.66-1.30, P = 0.66, I(2) = 81%; ArgArg vs. SerSer/SerArg: OR = 1.20, 95%CI 0.84-1.73, P = 0.32, I(2) = 72%). Sensitivity analysis performed by omitting each study in turn showed that the pooled results were stable. In summary, there is no association between p21 Ser31Arg polymorphism and cervical cancer risk in Asians. Further studies are needed to assess the possible association between p21 Ser31Arg polymorphism and cervical cancer risk in Caucasians.