RESUMO
OBJECTIVE: 18F-N-(2-(Diethylamino)ethyl)-5-(2-(2-(2-fluoroethoxy)ethoxy)ethoxy) picolinamide (18F-PFPN) is a novel positron emission tomography (PET) probe designed to specifically targets melanin. This study aimed to evaluate the diagnostic feasibility of 18F-PFPN in patients with ocular or orbital melanoma. MATERIALS AND METHODS: Three patients with pathologically confirmed ocular or orbital melanoma (one male, two females; age 41-59 years) were retrospectively reviewed. Each patient underwent comprehensive 18F-PFPN and 18F-fluorodeoxyglucose (18F-FDG) PET scans. The maximum standardized uptake value (SUVmax) of the lesion and the interference caused by background tissue were compared between 18F-PFPN and 18F-FDG PET imaging. In addition, the effect of intrinsic pigments in the uvea and retina on the interpretation of the results was examined. The contralateral non-tumorous eye of each patient served as a control. RESULTS: All primary tumors (3/3) were detected using 18F-PFPN PET, while only two primary tumors were detected using 18F-FDG PET. Within each lesion, the SUVmax of 18F-PFPN was 2.6 to 8.3 times higher than that of 18F-FDG. Regarding the quality of PET imaging, the physiological uptake of 18F-FDG PET in the brain and periocular tissues limited the imaging of tumors. However, 18F-PFPN PET minimized this interference. Notably, intrinsic pigments in the uvea and retina did not cause abnormal concentrations of 18F-PFPN, as no anomalous uptake of 18F-PFPN was detected in the healthy contralateral eyes. CONCLUSION: Compared to 18F-FDG, 18F-PFPN demonstrated higher detection rates for ocular and orbital melanomas with minimal interference from surrounding tissues. This suggests that 18F-PFPN could be a promising clinical diagnostic tool for distinguishing malignant melanoma from benign pigmentation in ocular and orbital melanomas.
Assuntos
Neoplasias Oculares , Fluordesoxiglucose F18 , Melaninas , Melanoma , Neoplasias Orbitárias , Tomografia por Emissão de Pósitrons , Compostos Radiofarmacêuticos , Humanos , Masculino , Melanoma/diagnóstico por imagem , Melanoma/metabolismo , Pessoa de Meia-Idade , Feminino , Adulto , Melaninas/metabolismo , Estudos Retrospectivos , Tomografia por Emissão de Pósitrons/métodos , Neoplasias Orbitárias/diagnóstico por imagem , Neoplasias Orbitárias/metabolismo , Neoplasias Oculares/diagnóstico por imagem , Neoplasias Oculares/metabolismo , Estudos de Viabilidade , Ácidos PicolínicosAssuntos
Neoplasias Orbitárias , Leucemia-Linfoma Linfoblástico de Células Precursoras B , Pré-Escolar , Feminino , Humanos , Neoplasias Orbitárias/diagnóstico por imagem , Neoplasias Orbitárias/metabolismo , Neoplasias Orbitárias/patologia , Leucemia-Linfoma Linfoblástico de Células Precursoras B/diagnóstico por imagem , Leucemia-Linfoma Linfoblástico de Células Precursoras B/metabolismo , Leucemia-Linfoma Linfoblástico de Células Precursoras B/patologiaRESUMO
This study aimed to analyze the role of the FcepsilonRI (FcεRI) signaling pathway in the pathogenesis of benign lymphoepithelial lesion of lacrimal gland (LGBLEL). Transcriptomic analysis was performed on LGBLEL and orbital cavernous hemangioma (CH) patients diagnosed via histopathology in Beijing Tongren Hospital, Capital Medical University, between July 2010 and October 2013. Four LGBLEL and three orbital CH patients, diagnosed between October 2018 and August 2019, were randomly selected as experimental and control groups, respectively. RT-PCR, immunohistochemical staining, and western blotting were used to verify genes and proteins related to the FcεRI signaling pathway. Transcriptomic analysis showed that the FcεRI signaling pathway was upregulated in the LGBLEL compared with the CH group. The mRNA expression levels of important genes including SYK, p38, JNK, PI3K, and ERK were significantly increased in the LGBLEL group (P = 0.0066, P = 0.0002, P = 0.0003, P < 0.0001, P < 0.0001, respectively). Immunohistochemical staining results showed that SYK, p38, and ERK were positively expressed in LGBLEL, while JNK and PI3K were not. The protein contents of P-SYK, P-p38, P-JNK, P-PI3K, and P-ERK were significantly higher in the LGBLEL than in the CH group (P = 0.0169, P = 0.0074, P = 0.0046, P = 0.0157, P = 0.0156, respectively). The FcεRI signaling pathway participates in the pathogenesis of LGBLEL.
Assuntos
Doenças do Aparelho Lacrimal/metabolismo , Doenças do Aparelho Lacrimal/patologia , Aparelho Lacrimal/metabolismo , Aparelho Lacrimal/patologia , Receptores de IgE/metabolismo , Estudos de Casos e Controles , Dacriocistite/genética , Dacriocistite/metabolismo , Dacriocistite/patologia , Perfilação da Expressão Gênica , Redes Reguladoras de Genes , Hemangioma Cavernoso/genética , Hemangioma Cavernoso/metabolismo , Hemangioma Cavernoso/patologia , Humanos , Inflamação/genética , Inflamação/metabolismo , Inflamação/patologia , Doenças do Aparelho Lacrimal/genética , Neoplasias Orbitárias/genética , Neoplasias Orbitárias/metabolismo , Neoplasias Orbitárias/patologia , RNA Mensageiro/genética , RNA Mensageiro/metabolismo , Transdução de Sinais/genéticaRESUMO
Orbital (slow flow) cavernous venous hemangiomas (OCVH) are the most common benign orbital tumors in adults. The c-KIT is a tyrosine kinase receptor, which is expressed on several types of cells, is thought to play a key role in tumor pathogenesis. The purpose of this study was to evaluate the presence of the receptor c-KIT in OCVH. Our retrospective study examined 16 orbital cavernous venous hemangiomas from 16 cases operated on between 2006-2016 at Emek Medical Center. The mean tumor size was 18.4 mm. Symptoms appeared between 6 months and 22 years before operation. All specimens were analyzed for the c-KIT receptor through immunohistochemistry. The c-KIT was expressed by the endothelium in all 16 preparates. Staining was strong in two cases, moderate in six, and weak in eight cases, with no statistically significant correlation between staining and tumor size (p = 0.69) or the symptom duration (p = 0.15). We conclude that c-KIT may play an important role in the pathogenesis of OCVH. This pilot study is significant in that tumor-targeted therapy such as Imatinib Mesylate and Sunitinib may have a role in treating surgically complicated cases located in the orbital apex. A large multicenter collaborative study is necessary to examine the role of c-KIT in OCVH.
Assuntos
Regulação Neoplásica da Expressão Gênica , Hemangioma Cavernoso/metabolismo , Neoplasias Orbitárias/metabolismo , Proteínas Proto-Oncogênicas c-kit/biossíntese , Adolescente , Adulto , Idoso , Criança , Feminino , Hemangioma Cavernoso/genética , Hemangioma Cavernoso/patologia , Humanos , Masculino , Pessoa de Meia-Idade , Neoplasias Orbitárias/genética , Neoplasias Orbitárias/patologia , Proteínas Proto-Oncogênicas c-kit/genética , Adulto JovemRESUMO
Purpose: To identify tissue metabolomic profiles in biopsy specimens with IgG4-related ophthalmic disease (IgG4-ROD) and mucosa-associated lymphoid tissue (MALT) lymphoma and investigate their potential implication in the disease pathogenesis and biomarkers. Methods: We conducted a comprehensive analysis of the metabolomes and lipidomes of biopsy-proven IgG4-ROD (n = 22) and orbital MALT lymphoma (n = 21) specimens and matched adjacent microscopically normal adipose tissues using liquid chromatography time-of-flight mass spectrometry. The altered metabolomic profiles were visualized by heat map and principal component analysis. Metabolic pathway analysis was performed by Metabo Analyst 4.0 using differentially expressed metabolites. The diagnostic performance of the metabolic markers was evaluated using receiver operating characteristic curves. Machine learning algorithms were implemented by random forest using the R environment. Finally, an independent set of 18 IgG4-ROD and 17 orbital MALT lymphoma specimens were used to validate the identified biomarkers. Results: The principal component analysis showed a significant difference of both IgG4-ROD and orbital MALT lymphoma for biopsy specimens and controls. Interestingly, lesions in IgG4-ROD were uniquely enriched in arachidonic metabolism, whereas those in orbital MALT lymphoma were enriched in tricarboxylic acid cycle metabolism. We identified spermine as the best discriminator between IgG4-ROD and orbital MALT lymphoma, and the area under the receiver operating characteristic curve of the spermine to discriminate between the two diseases was 0.89 (95% confidence interval, 0.803-0.984). A random forest model incorporating a panel of five metabolites showed a high area under the receiver operating characteristic curve value of 0.983 (95% confidence interval, 0.981-0.984). The results of validation revealed that four tissue metabolites: N1,N12-diacetylspermine, spermine, malate, and glycolate, had statistically significant differences between IgG4-ROD and orbital MALT lymphoma with receiver operating characteristic values from 0.708 to 0.863. Conclusions: These data revealed the characteristic differences in metabolomic profiles between IgG4-ROD and orbital MALT lymphoma, which may be useful for developing new diagnostic biomarkers and elucidating the pathogenic mechanisms of these common orbital lymphoproliferative disorders.
Assuntos
Biomarcadores Tumorais/metabolismo , Imunoglobulina G/sangue , Linfoma de Zona Marginal Tipo Células B/metabolismo , Metaboloma/fisiologia , Doenças Orbitárias/metabolismo , Neoplasias Orbitárias/metabolismo , Paraproteinemias/metabolismo , Adulto , Idoso , Idoso de 80 Anos ou mais , Cromatografia Líquida de Alta Pressão , Feminino , Glicolatos/metabolismo , Humanos , Linfoma de Zona Marginal Tipo Células B/diagnóstico , Malatos/metabolismo , Masculino , Espectrometria de Massas , Metabolômica , Pessoa de Meia-Idade , Doenças Orbitárias/diagnóstico , Neoplasias Orbitárias/diagnóstico , Paraproteinemias/diagnóstico , Análise de Componente Principal , Curva ROC , Estudos Retrospectivos , Espermina/análogos & derivados , Espermina/metabolismoAssuntos
Proteína do Grupo de Complementação N da Anemia de Fanconi/genética , Tumores de Células Gigantes/secundário , Mutação , Órbita/patologia , Neoplasias Orbitárias/genética , Neoplasias de Tecidos Moles/diagnóstico , Adulto , Biópsia , Análise Mutacional de DNA , DNA de Neoplasias/análise , Proteína do Grupo de Complementação N da Anemia de Fanconi/metabolismo , Feminino , Tumores de Células Gigantes/diagnóstico , Tumores de Células Gigantes/metabolismo , Humanos , Imageamento por Ressonância Magnética , Metástase Neoplásica , Neoplasias Orbitárias/metabolismo , Neoplasias Orbitárias/patologia , Neoplasias de Tecidos Moles/genética , Neoplasias de Tecidos Moles/metabolismoRESUMO
BACKGROUND: Cushing's syndrome has been described as a complex endocrine disorder characterized with high cortisol concentration. Correct and early diagnosis of Cushing's syndrome is challenging. According to the latest guideline, bilateral inferior petrosal sinus sampling (BIPSS) is considered to be the gold standard for the differential diagnosis. However, in some unusual cases, this method may be false positive. Here, we presented a rare case of orbital neuroendocrine tumor secreting adrenocorticotrophic hormone with false positive inferior petrosal sinus sampling. CASE PRESENTATION: A 48-year-old woman was admitted to West China Hospital of Sichuan University, presenting with fatigue, whole body edema for 1 year, alopecia and skin pigmentation for 5 months. Hormonal profiles including plasma cortisol and adrenocorticotrophic hormone (ACTH) measurements and low-dose dexamethasone inhibition test suggested that the patient had Cushing's syndrome. However, during tumor location phase, the results of high-dose dexamethasone inhibition test (HDDST) contradicted desmopressin (DDAVP) stimulation test. Thus, BIPSS was employed, and its results indicated a pituitary origin. Interestingly, MRI of sellar region showed an innocent pituitary but caught a serendipitous lesion in the lateral rectus muscle of left eye, which was later proved to be an orbital neuroendocrine tumor secreting ACTH by pathological and immunohistochemical results. ACTH level of the patients was < 0.1 ng/L and cortisol level was 51.61 nmol/L 1 week after surgery. At 24 months follow-up, the patient appeared stable with no complaints nor any symptoms of Cushing's syndrome, including moon face, purple striate and central obesity. The patient's life quality also improved significantly. CONCLUSION: We reported a rare case of endogenous Cushing's syndrome due to ectopic ACTH secreting from an orbital neuroendocrine tumor. This unique case of orbital EAS suggests that orbital venous blood backflow, owning to abnormal anatomic structures, may possibly lead to false positive BIPSS results.
Assuntos
Síndrome de ACTH Ectópico/diagnóstico , Tumores Neuroendócrinos/diagnóstico , Neoplasias Orbitárias/diagnóstico , Amostragem do Seio Petroso , Síndrome de ACTH Ectópico/etiologia , Síndrome de ACTH Ectópico/cirurgia , Hormônio Adrenocorticotrópico/análise , Hormônio Adrenocorticotrópico/sangue , Hormônio Adrenocorticotrópico/metabolismo , Síndrome de Cushing/diagnóstico , Síndrome de Cushing/metabolismo , Síndrome de Cushing/cirurgia , Diagnóstico Diferencial , Reações Falso-Positivas , Feminino , Humanos , Hidrocortisona/sangue , Pessoa de Meia-Idade , Tumores Neuroendócrinos/metabolismo , Tumores Neuroendócrinos/secundário , Tumores Neuroendócrinos/cirurgia , Neoplasias Orbitárias/metabolismo , Neoplasias Orbitárias/patologia , Neoplasias Orbitárias/cirurgia , Amostragem do Seio Petroso/efeitos adversos , Amostragem do Seio Petroso/métodos , Neoplasias Hipofisárias/diagnóstico , Neoplasias Hipofisárias/metabolismo , Neoplasias Hipofisárias/secundário , Neoplasias Hipofisárias/cirurgiaRESUMO
BACKGROUND: Breast cancer is the most common malignancy to spread to the orbit and periorbit, and the invasive lobular carcinoma (ILC) histologic subtype of breast cancer has been reported to form these ophthalmic metastases (OM) more frequently than invasive ductal carcinomas (IDC). We herein report our single academic institution experience with breast cancer OM with respect to anatomical presentation, histology (lobular vs. ductal), treatment, and survival. METHODS: We employed the natural language processing platform, TIES (Text Information Extraction System), to search 2.3 million de-identified patient pathology and radiology records at our institution in order to identify patients with OM secondary to breast cancer. We then compared the resultant cohort, the "OM cohort," to two other representative metastatic breast cancer patient (MBC) databases from our institution. Histological analysis of selected patients was performed. RESULTS: Our TIES search and manual refinement ultimately identified 28 patients who were diagnosed with breast cancer between 1995 and 2016 that subsequently developed OM. Median age at diagnosis was 54 (range 28-77) years of age. ER, PR, and HER2 status from the 28 patients with OM did not differ from other patients with MBC from our institution. The relative proportion of patients with ILC was significantly higher in the OM cohort (32.1%) than in other MBC patients in our institution (11.3%, p = 0.007). Median time to first OM in the OM cohort was 46.7 months, and OM were the second most frequent first metastases after bony metastases. After diagnosis of the first distant metastasis of any kind, median survival of patients with ILC (21.4 months) was significantly shorter than that of patients with IDC (55.3 months, p = 0.03). Nine patients developed bilateral OM. We observed a significant co-occurrence of OM and central nervous system metastases (p = 0.0053). The histological analysis revealed an interesting case in which the primary tumor was of a mixed ILC/IDC subtype, while only ILC was present in the OM. CONCLUSIONS: OM from breast cancer are illustrative of the difference in metastatic behavior of ILC versus IDC and should be considered when treating patients with ILC, especially in those with complaints of visual acuity changes.
Assuntos
Neoplasias da Mama/patologia , Neoplasias da Mama/radioterapia , Carcinoma Lobular/mortalidade , Neoplasias Orbitárias/secundário , Adulto , Idoso , Neoplasias da Mama/metabolismo , Carcinoma Ductal de Mama/metabolismo , Carcinoma Ductal de Mama/patologia , Carcinoma Ductal de Mama/radioterapia , Carcinoma Lobular/metabolismo , Carcinoma Lobular/patologia , Carcinoma Lobular/radioterapia , Feminino , Seguimentos , Humanos , Metástase Linfática , Pessoa de Meia-Idade , Neoplasias Orbitárias/metabolismo , Neoplasias Orbitárias/radioterapia , Prognóstico , Radioterapia de Intensidade Modulada , Receptor ErbB-2/metabolismo , Receptores de Estrogênio/metabolismo , Receptores de Progesterona/metabolismo , Estudos Retrospectivos , Taxa de Sobrevida , Resultado do TratamentoRESUMO
PURPOSE: To report a 72-year-old man with orbital metastasis as presenting symptoms from a prostatic adenocarcinoma. METHODS: A complete ophthalmological evaluation with ultrasonography examination, kinetic perimetry, fluorescein angiography, and visually evoked potentials were performed. The patient underwent computed tomography, magnetic resonance imaging of the orbit, and blood test for confirmation of the diagnosis. Bone infiltration rate of the cancer was evaluated with bone scintigraphy. Type of the tumor was assessed with orbital incision biopsy and histological analysis. The patient received systemic chemotherapy. Due to poor patient compliance, radiotherapy was not performed. RESULTS: Ultrasonography showed a hypoechoic retrobulbar lesion. At computed tomography examination of the orbit an expansive oval intraconical solid lesion with enhancement after medium contrast was found. Biopsy findings revealed a moderately differentiated adenocarcinoma with immunohistochemical profile supporting prostate as the primary tumor site: negative for cytokeratin-7 and cytokeratin-20 and positive for prostate-specific antigen, prostate-specific acid phosphatase, and alpha-methylacyl-CoA-racemase. CONCLUSIONS: Ocular signs and symptoms as first clinical presentation of a prostate cancer are relatively rare. Despite its very poor prognosis, a correct management and therapy can improve visual acuity, ocular symptoms, and median survival of cancer patients.
Assuntos
Adenocarcinoma/diagnóstico por imagem , Adenocarcinoma/secundário , Neoplasias Orbitárias/diagnóstico por imagem , Neoplasias Orbitárias/secundário , Neoplasias da Próstata/patologia , Adenocarcinoma/metabolismo , Adenocarcinoma/fisiopatologia , Idoso , Biomarcadores Tumorais/metabolismo , Biópsia , Potenciais Evocados Visuais/fisiologia , Angiofluoresceinografia , Humanos , Imageamento por Ressonância Magnética , Masculino , Proteínas de Neoplasias/metabolismo , Neoplasias Orbitárias/metabolismo , Neoplasias Orbitárias/fisiopatologia , Tomografia Computadorizada por Raios X , Acuidade Visual/fisiologiaAssuntos
Neoplasias Primárias Múltiplas/patologia , Neoplasias de Bainha Neural/patologia , Neurofibroma/patologia , Neoplasias Orbitárias/patologia , Adulto , Antígenos CD34/metabolismo , Biomarcadores Tumorais/metabolismo , Diplopia/diagnóstico , Doenças Palpebrais/diagnóstico , Feminino , Humanos , Imuno-Histoquímica , Imageamento por Ressonância Magnética , Mucina-1/metabolismo , Neoplasias de Bainha Neural/diagnóstico por imagem , Neoplasias de Bainha Neural/metabolismo , Neurofibroma/diagnóstico por imagem , Neurofibroma/metabolismo , Neoplasias Orbitárias/diagnóstico por imagem , Neoplasias Orbitárias/metabolismoAssuntos
Neoplasias da Mama/patologia , Carcinoma Ductal de Mama/patologia , Neoplasias Orbitárias/patologia , Sarcoma Alveolar de Partes Moles/patologia , Adulto , Biomarcadores Tumorais/metabolismo , Feminino , Humanos , Imuno-Histoquímica , Imageamento por Ressonância Magnética , Exenteração Orbitária , Neoplasias Orbitárias/diagnóstico por imagem , Neoplasias Orbitárias/metabolismo , Neoplasias Orbitárias/cirurgia , Sarcoma Alveolar de Partes Moles/diagnóstico por imagem , Sarcoma Alveolar de Partes Moles/metabolismo , Sarcoma Alveolar de Partes Moles/cirurgiaRESUMO
In this retrospective study of patients with overt orbital retinoblastoma, we evaluated minimally disseminated disease (MDD) in bone marrow and cerebrospinal fluid (CSF) using CRX and/or GD2 synthase as markers. Ten patients were evaluated-five (50%) at diagnosis and five upon relapse. MDD was detected in four cases (one in the bone marrow, two in the CSF, and in one case in both sites). All patients received chemotherapy and four received orbital radiotherapy. Seven patients relapsed or progressed and all of them died. Three patients remain in complete remission. There was no apparent correlation between MDD and the outcome.
Assuntos
Protocolos de Quimioterapia Combinada Antineoplásica/uso terapêutico , Medula Óssea/metabolismo , Proteínas de Homeodomínio/metabolismo , N-Acetilgalactosaminiltransferases/metabolismo , Neoplasia Residual/mortalidade , Neoplasias Orbitárias/mortalidade , Retinoblastoma/mortalidade , Transativadores/metabolismo , Adolescente , Adulto , Idoso , Biomarcadores Tumorais/líquido cefalorraquidiano , Biomarcadores Tumorais/genética , Biomarcadores Tumorais/metabolismo , Medula Óssea/patologia , Feminino , Seguimentos , Proteínas de Homeodomínio/líquido cefalorraquidiano , Proteínas de Homeodomínio/genética , Humanos , Masculino , N-Acetilgalactosaminiltransferases/líquido cefalorraquidiano , N-Acetilgalactosaminiltransferases/genética , Recidiva Local de Neoplasia/metabolismo , Recidiva Local de Neoplasia/mortalidade , Recidiva Local de Neoplasia/patologia , Recidiva Local de Neoplasia/terapia , Neoplasia Residual/metabolismo , Neoplasia Residual/patologia , Neoplasia Residual/terapia , Neoplasias Orbitárias/metabolismo , Neoplasias Orbitárias/patologia , Neoplasias Orbitárias/terapia , Prognóstico , Estudos Prospectivos , Dosagem Radioterapêutica , Neoplasias da Retina/metabolismo , Neoplasias da Retina/mortalidade , Neoplasias da Retina/patologia , Neoplasias da Retina/terapia , Retinoblastoma/metabolismo , Retinoblastoma/patologia , Retinoblastoma/terapia , Estudos Retrospectivos , Taxa de Sobrevida , Transativadores/líquido cefalorraquidiano , Transativadores/genética , Adulto JovemRESUMO
We report a case of a 2-year-old female who presented with bilateral progressive proptosis, visual loss, nasal obstruction, and breathing difficulty. Magnetic resonance imaging revealed a large sino-orbital mass that was extending to the orbital apex and skull base. An initial diagnosis of rhabdomyosarcoma was made elsewhere on the basis of the presence of round and spindle cell tumor. Subsequent biopsy with immunohistochemical staining was positive for nuclear staining with ß-catenin, shifting the diagnosis to a myofibroblastic tumor, favoring desmoid-type fibromatosis. With image guidance, near complete excision of tumor was performed by a multidisciplinary team, while respecting danger zones such as the skull base and the optic nerve. Following a recurrence over 2 months, additional excision was performed with a 6-month treatment of methotrexate and vinblastine. Desmoid tumor is a rare form of soft tissue tumor uncommonly seen in the orbital area. Although benign, it is known to be recurrent and infiltrative. Few data are known and further information will aid in the management of these tumors.
Assuntos
Fibromatose Agressiva/patologia , Neoplasias Orbitárias/patologia , Neoplasias dos Seios Paranasais/patologia , Antimetabólitos Antineoplásicos/uso terapêutico , Antineoplásicos Fitogênicos/uso terapêutico , Biomarcadores Tumorais/metabolismo , Pré-Escolar , Terapia Combinada , Feminino , Fibromatose Agressiva/diagnóstico por imagem , Fibromatose Agressiva/metabolismo , Fibromatose Agressiva/terapia , Humanos , Imageamento por Ressonância Magnética , Metotrexato/uso terapêutico , Procedimentos Cirúrgicos Oftalmológicos , Neoplasias Orbitárias/diagnóstico por imagem , Neoplasias Orbitárias/metabolismo , Neoplasias Orbitárias/terapia , Neoplasias dos Seios Paranasais/diagnóstico por imagem , Neoplasias dos Seios Paranasais/metabolismo , Neoplasias dos Seios Paranasais/terapia , Tomografia Computadorizada por Raios X , Vimblastina/uso terapêutico , beta Catenina/metabolismoRESUMO
PURPOSE: Desmoplastic small round cell tumor is a rare malignant neoplasm that most often occurs in the abdomen or pelvis of young men. We herein describe a rare case of desmoplastic small round cell tumor arising from the left orbit in a 16-year-old male. METHODS AND RESULTS: A biopsy was performed and the histology showed the nests of tumor cells with small round cell morphology. The tumor cells showed immunopositivity for desmin, CD99, CD56, SMA, NSE, CgA, SYN, Ki67 and vimentin. Fluorescence in situ hybridization study using EWSR1 break-apart probe was positive for EWSR1 gene rearrangement. After complete surgical resection of the tumor, we did not find tumor recurrence or metastasis with one-year follow-up. Furthermore, a review of the relevant English literature has been discussed. CONCLUSIONS: In the present study, for the first time, we report a case of desmoplastic small round cell tumor which is located in the orbital region.
Assuntos
Tumor Desmoplásico de Pequenas Células Redondas/diagnóstico , Neoplasias Orbitárias/diagnóstico , Biomarcadores Tumorais/análise , Biópsia , Tumor Desmoplásico de Pequenas Células Redondas/metabolismo , Tumor Desmoplásico de Pequenas Células Redondas/cirurgia , Humanos , Procedimentos Cirúrgicos Oftalmológicos/métodos , Neoplasias Orbitárias/metabolismo , Neoplasias Orbitárias/cirurgia , Tomografia Computadorizada por Raios XRESUMO
We report the case of an anterior orbital tumor in a young woman that enlarged during pregnancy. The mass was excised and found to be a spindle cell tumor with immunohistochemical reactivity consistent with a solitary fibrous tumor, a rare entity in the spectrum of fibroblastic mesenchymal tumors. The tumor was strongly positive for the progesterone receptor, consistent with its clinical growth during the antenatal and postnatal periods. To our knowledge, a primary orbital tumor with these characteristics has rarely been reported in the literature.
Assuntos
Neoplasias Orbitárias/patologia , Complicações Neoplásicas na Gravidez/patologia , Tumores Fibrosos Solitários/patologia , Adulto , Biomarcadores Tumorais/metabolismo , Feminino , Humanos , Imageamento por Ressonância Magnética , Procedimentos Cirúrgicos Oftalmológicos , Neoplasias Orbitárias/diagnóstico por imagem , Neoplasias Orbitárias/metabolismo , Neoplasias Orbitárias/cirurgia , Gravidez , Complicações Neoplásicas na Gravidez/diagnóstico por imagem , Complicações Neoplásicas na Gravidez/cirurgia , Tumores Fibrosos Solitários/diagnóstico por imagem , Tumores Fibrosos Solitários/metabolismo , Tumores Fibrosos Solitários/cirurgiaRESUMO
The majority of ocular adnexal lymphomas are B-cell in origin. We report two cases of T-cell lymphoblastic lymphoma (T-LBL) involving the ocular adnexa. One patient presented with a painless pink conjunctival lesion and inferior orbital fullness. The second patient presented with a painless orbital mass. The diagnoses were confirmed by histopathology and immunohistochemistry. Both patients had extensive multifocal lesions during staging. Prompt intensified chemotherapy regimens were initiated. T-LBL is an aggressive disease with poor prognosis. This report emphasizes the importance of timely diagnosis by the ophthalmologist with co-management and treatment with an oncologist.
Assuntos
Neoplasias da Túnica Conjuntiva/patologia , Neoplasias Orbitárias/patologia , Leucemia-Linfoma Linfoblástico de Células T Precursoras/patologia , Adulto , Biomarcadores Tumorais/metabolismo , Biópsia , Neoplasias da Túnica Conjuntiva/diagnóstico por imagem , Neoplasias da Túnica Conjuntiva/metabolismo , Neoplasias da Túnica Conjuntiva/cirurgia , Humanos , Masculino , Proteínas de Neoplasias/metabolismo , Neoplasias Orbitárias/diagnóstico por imagem , Neoplasias Orbitárias/metabolismo , Neoplasias Orbitárias/cirurgia , Leucemia-Linfoma Linfoblástico de Células T Precursoras/diagnóstico por imagem , Leucemia-Linfoma Linfoblástico de Células T Precursoras/metabolismo , Leucemia-Linfoma Linfoblástico de Células T Precursoras/cirurgia , Tomografia Computadorizada por Raios X , Adulto JovemRESUMO
A 19-year-old female student presented with painless, progressive proptosis in the right eye for the past six months causing significant cosmetic blemish and double vision. Clinical evaluation revealed normal visual acuity, normal pupillary reflex, severe proptosis, and dystopia. Orbital imaging revealed a heterogeneous mass in superior orbit displacing the globe inferiorly and causing extensive bony erosion of frontal bone superiorly and invading the frontal sinus. Excision biopsy was performed with en-bloc removal of the tumor. Surgical delivery of a slimy mass with infiltrated bony tissue led to a presumptive diagnosis of myxoid liposarcoma. Careful histopathologic analysis coupled with immunohistochemical studies were performed which established the rare diagnosis of low-grade myxoid spindle cell neoplasm with features suggestive of intraosseous myxoma. On follow-up at 15 months, our patient revealed no signs of recurrence. Isolated intraosseous orbital myxoma is a rare entity; only two such cases have been reported in the literature.
Assuntos
Lipossarcoma Mixoide/patologia , Neoplasias Orbitárias/patologia , Biomarcadores Tumorais/metabolismo , Biópsia , Exoftalmia/diagnóstico , Feminino , Humanos , Lipossarcoma Mixoide/diagnóstico por imagem , Lipossarcoma Mixoide/metabolismo , Lipossarcoma Mixoide/cirurgia , Proteínas de Neoplasias/metabolismo , Procedimentos Cirúrgicos Oftalmológicos , Neoplasias Orbitárias/diagnóstico por imagem , Neoplasias Orbitárias/metabolismo , Neoplasias Orbitárias/cirurgia , Tomografia Computadorizada por Raios X , Adulto JovemRESUMO
BACKGROUND: To evaluate the ophthalmic manifestations and radiographic features of ectopic orbital meningioma to improve diagnostic accuracy. METHODS: Patient data from patients admitted to our institution during a 217-month period from August 1999 to September 2017 were included. Patient ophthalmic manifestations, radiographic features (CT and MRI), diagnosis, pathology, therapeutic regimens, and prognosis were retrospectively reviewed. RESULTS: Six patients with ectopic orbital meningioma were identified. The mean age at the first visit was 33.2 years (range, 7-56 years). All six patients displayed manifestations of exophthalmos, upper eyelid oedema, and motility impairment with a mean history of illness of 20.3 months (range 3-72 months). Optical lesions were located in the superonasal extraconal compartment (3/6, 50%), bitemporal extraconal compartment (1/6, 16.7%) and orbital intraconal compartment (2/6, 33%). Radiographic features were ill-defined, heterogeneous, enhancing soft tissue masses with extraocular muscular adhesion (6/6, 100%) and calcification (1/6, 16.7%), not adjacent to the optic nerve and not extending along the dura. Six cases were treated intraoperatively with complete surgical resection, indicating that all lesions were independent of the optic nerve and sphenoid ridge. The histopathologic classification was mostly of meningothelial cells (5/6, 83%). Immunohistochemistry revealed EMA and vimentin to have positive expression in all six cases, while two cases were calponin-positive and strongly expressed in the olfactory bulb. Postoperatively, lesions caused no visual impairment, and there were no cases of recurrence. CONCLUSIONS: Ectopic orbital meningiomas are rare tumours that are not easily diagnosed without postoperative histopathology. This report highlights some of the distinguishing features of isolated orbital lesions, especially around the location of frontoethmoidal suture. Accompanying upper eyelid oedema and eye mobility restriction were observed to be dissimilar to other orbital tumours. In these cases, a diagnosis of ectopic orbital meningioma should be considered.
Assuntos
Coristoma/diagnóstico por imagem , Imageamento por Ressonância Magnética , Neoplasias Meníngeas , Meningioma/diagnóstico por imagem , Neoplasias Orbitárias/diagnóstico por imagem , Tomografia Computadorizada por Raios X , Adolescente , Adulto , Biomarcadores Tumorais/metabolismo , Criança , Coristoma/metabolismo , Coristoma/patologia , Coristoma/cirurgia , Edema/diagnóstico , Exoftalmia/diagnóstico , Doenças Palpebrais/diagnóstico , Feminino , Humanos , Técnicas Imunoenzimáticas , Masculino , Meningioma/metabolismo , Meningioma/patologia , Meningioma/cirurgia , Pessoa de Meia-Idade , Proteínas de Neoplasias/metabolismo , Neoplasias Orbitárias/metabolismo , Neoplasias Orbitárias/patologia , Neoplasias Orbitárias/cirurgia , Estudos RetrospectivosAssuntos
Cistos/diagnóstico por imagem , Neurilemoma/diagnóstico por imagem , Neoplasias Orbitárias/diagnóstico por imagem , Biomarcadores Tumorais/metabolismo , Biópsia , Cistos/metabolismo , Cistos/cirurgia , Feminino , Humanos , Imuno-Histoquímica , Imageamento por Ressonância Magnética , Pessoa de Meia-Idade , Neurilemoma/metabolismo , Neurilemoma/cirurgia , Neoplasias Orbitárias/metabolismo , Neoplasias Orbitárias/cirurgia , Proteínas S100 , Vimentina/metabolismoRESUMO
PURPOSE: To evaluate the clinical behavior of spheno-orbital meningiomas with regard to World Health Organization (WHO) tumor grade and Ki-67, a cellular marker of proliferation. METHODS: A retrospective review over a 16-year period of the demographic, clinical, radiographic, and surgical data of all patients with spheno-orbital meningioma who underwent surgical resection. Tumor specimens were examined histologically using the current WHO 2016 classification and immunohistochemically using Ki-67/MIB-1 monoclonal antibody. RESULTS: Thirty-eight patients met all inclusion criteria: 78.9% of tumors were WHO grade I with a mean Ki-67 of 3.76, and 93% of patients were clinically stable at last follow up; 10.5% of lesions were WHO grade II (atypical) with a mean Ki-67 of 14.93, and 10.5% of lesions were WHO grade III (anaplastic) with a mean Ki-67 of 58.3. All grade II and III meningiomas exhibited an aggressive clinical course. There were statistically significant correlations between disease clinical progression and WHO tumor grade (p < 0.001), between disease clinical progression and Ki-67 (p < 0.001), and between increasing Ki-67 index and higher WHO grade (p < 0.001). For WHO grade I lesions, a Ki-67 of ≥3.3 correlated with recurrence (p = 0.0256). Overall, disease-specific mortality occurred in 5 (13%) patients. CONCLUSIONS: Ki-67 index is a valuable marker to use in conjunction with WHO grade to predict meningioma behavior, particularly in histologically borderline lesions, and possibly to identify a subset of WHO grade I tumors at risk of recurrence. This combination of methods can aid in tailoring treatment and surveillance strategies.