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Τρίτη 26 Νοεμβρίου 2019


Naevoid acanthosis nigricans or RAVEN (rounded and velvety epidermal naevus) and mosaic FGFR3 and FGFR2 mutations.
Related ArticlesNaevoid acanthosis nigricans or RAVEN (rounded and velvety epidermal naevus) and mosaic FGFR3 and FGFR2 mutations. Br J Dermatol. 2019 04;180(4):955-957 Authors: Bessis D, Petit A, Battistella M, Bourrat E, Girard C, Pallure V, Marque M, Lacour JP, Vitetta A, Bieth É, Selves J, Solassol J, Vendrell J PMID: 30580445 [PubMed - indexed for MEDLINE]
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Neutrophilic Dermatoses Associated with Myeloid Malignancies.
Related ArticlesNeutrophilic Dermatoses Associated with Myeloid Malignancies. Am J Clin Dermatol. 2019 Jun;20(3):325-333 Authors: Lepelletier C, Bouaziz JD, Rybojad M, Bagot M, Georgin-Lavialle S, Vignon-Pennamen MD Abstract Neutrophilic dermatoses (ND) are a group of conditions characterized by an aseptic accumulation of polymorphonuclear leukocytes in the skin. Occurrence of ND in association with myeloid malignancies, mainly myelodysplastic syndrome...
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KIT as an Oncogenic Driver in Melanoma: An Update on Clinical Development.
Related ArticlesKIT as an Oncogenic Driver in Melanoma: An Update on Clinical Development. Am J Clin Dermatol. 2019 Jun;20(3):315-323 Authors: Meng D, Carvajal RD Abstract Metastatic melanoma is a heterogenous disease that has served as a model for the development of both targeted therapy and immunotherapy. KIT-mutated melanoma represents a rare subset, most commonly arising from acral, mucosal, and chronically sun-damaged skin. Additionally, KIT alterations...
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A Case of Renal Involvement in B Lymphoblastic Lymphoma Leukemia.
Related ArticlesA Case of Renal Involvement in B Lymphoblastic Lymphoma Leukemia. Clin Lab. 2019 Jan 01;65(1): Authors: Zhang L, Feng Y, Cheng N, Zou Q, Lai W, Liu JJ Abstract BACKGROUND: Renal involvement is rare in B lymphoblastic lymphoma (B-LBL). The authors describe a rare case of renal involvement in a 21-year-old male patient with B lymphoblastic lymphoma leukemia, presenting with severe lactic acidosis. METHODS: Hematologic investigation,...
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Chemotherapy-induced skin toxicity and capillary leak syndrome.
Related ArticlesChemotherapy-induced skin toxicity and capillary leak syndrome. Int J Dermatol. 2019 Jul;58(7):856-860 Authors: Hunjan MK, Nowsheen S, Ramos-Rodriguez AJ, Bridges AG, Lehman JS, Hashmi SK, El-Azhary RA Abstract BACKGROUND: The occurrence of chemotherapy-related adverse cutaneous reactions in the setting of capillary leak syndrome (CLS) is quite rare. Our objective was to identify the type of skin reactions associated with CLS. ...
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Spontaneously slow-cycling subpopulations of human cells originate from activation of stress-response pathways.
Related ArticlesSpontaneously slow-cycling subpopulations of human cells originate from activation of stress-response pathways. PLoS Biol. 2019 03;17(3):e3000178 Authors: Min M, Spencer SL Abstract Slow-cycling subpopulations exist in bacteria, yeast, and mammalian systems. In the case of cancer, slow-cycling subpopulations have been proposed to give rise to drug resistance. However, the origin of slow-cycling human cells is poorly studied, in large...
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Imaging findings of ovarian leiomyosarcoma with histopathologic correlations.
Related ArticlesImaging findings of ovarian leiomyosarcoma with histopathologic correlations. Eur J Obstet Gynecol Reprod Biol. 2019 May;236:261-262 Authors: Fischetti A, Rutigliani M, Romano N, Marinaro EL, Puppo C, Gorlero F, Melani EF, Rollandi GA Abstract Leiomyosarcoma (LMS) is a malignant mesenchymal tumor deriving from smooth muscle. Ovarian LMS is exceedingly rare and only few reports have been reported in literature. The article illustrates...
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Prenatal ultrasound diagnosis of fetal chest wall cystic lymphangioma: An Italian case series.
Related ArticlesPrenatal ultrasound diagnosis of fetal chest wall cystic lymphangioma: An Italian case series. Eur J Obstet Gynecol Reprod Biol. 2019 May;236:139-142 Authors: Saccone G, Di Meglio L, Di Meglio L, Zullo F, Locci M, Zullo F, Berghella V, Di Meglio A Abstract Fetal lymphangioma is a rare congenital malformation of lymphatic system that involve the skin and the subcutaneous tissue. The vast majority of the lymphangioma occurs in the neck....
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A first time report on the coocurrence of sarcoidosis and ALK(-) CD30(+) anaplastic large cell lymphoma that is highly responsive to brentuximab vedotin treatment.
Related ArticlesA first time report on the coocurrence of sarcoidosis and ALK(-) CD30(+) anaplastic large cell lymphoma that is highly responsive to brentuximab vedotin treatment. J Oncol Pharm Pract. 2019 Oct;25(7):1801-1805 Authors: Afacan Öztürk HB, Albayrak M, Pala Öztürk Ç, Yıldız A, Maral S, Önder E Abstract Sarcoidosis is known to be associated with higher incidence of solid tumors and hematological malignancies. ALK(-) CD30(+) anaplastic large...
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Ovarian Mucinous Carcinoma with Mural Carcinosarcomatous Components in a Prepubertal Girl.
Related ArticlesOvarian Mucinous Carcinoma with Mural Carcinosarcomatous Components in a Prepubertal Girl. J Pediatr Adolesc Gynecol. 2019 Aug;32(4):436-439 Authors: Suzuki K, Imada H, Igarashi A, Saitou Y, Takakura S Abstract BACKGROUND: Epithelial ovarian cancer development before menarche is extremely rare. CASE: We report a prepubertal girl who developed ovarian mucinous carcinoma with mural carcinosarcomatous components. SUMMARY...
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Adolescent Vulvar Angiokeratoma Associated with Lichen Sclerosus.
Related ArticlesAdolescent Vulvar Angiokeratoma Associated with Lichen Sclerosus. J Pediatr Adolesc Gynecol. 2019 Aug;32(4):440-442 Authors: Vash-Margita A, Smith YR, Rabah R, Quint EH Abstract BACKGROUND: We present an adolescent with multiple vulvar angiokeratomas within a background of lichen sclerosus. CASE: A 13-year-old girl presented with vulvar pruritus and wart-like vulvar lesions. Four lesions were resected because of discomfort and...
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Delayed Dural Arteriovenous Fistula at the Transverse-Sigmoid Sinus Secondary to Petroclival Meningioma Surgery Via Far Lateral Approach.
Related ArticlesDelayed Dural Arteriovenous Fistula at the Transverse-Sigmoid Sinus Secondary to Petroclival Meningioma Surgery Via Far Lateral Approach. J Craniofac Surg. 2019 Oct;30(7):e583-e585 Authors: Xue X, Hou Y, Chen J, Yuan X, Sun G, Guo L Abstract Intracranial dural arteriovenous fistulas (DAVFs) are typified by pathological anastomoses between meningeal arteries and dural venous sinuses or cortical veins. There are many causes contributing...
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Metastasis from lung carcinoma to the finger: A case report.
Related ArticlesMetastasis from lung carcinoma to the finger: A case report. Acta Orthop Belg. 2019 Mar;85(1):86-90 Authors: Peeters CM, Gosens T Abstract Skeletal metastasis in the hand is exceedingly rare. In approximately 10% of the reported cases, it occurs as the primary manifestation of an occult malignancy. The early, correct diagnosis is warranted given the patient's poor prognosis. Conventional radiographs and MRI are helpful in diagnosis, but...
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Successful total en bloc spondylectomy of the L3 vertebra with a paravertebral giant cell tumor following preoperative treatment with denosumab: a case report.
Related ArticlesSuccessful total en bloc spondylectomy of the L3 vertebra with a paravertebral giant cell tumor following preoperative treatment with denosumab: a case report. J Med Case Rep. 2019 Apr 26;13(1):116 Authors: Kinoshita H, Orita S, Yonemoto T, Ishii T, Iwata S, Kamoda H, Tsukanishi T, Inage K, Abe K, Inoue M, Norimoto M, Umimura T, Fujimoto K, Shiga Y, Kanamoto H, Furuya T, Takahashi K, Ohtori S Abstract BACKGROUND: Giant cell tumor is...
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Metastasis of advanced gastric cancer to the extraocular muscle: a case report.
Related ArticlesMetastasis of advanced gastric cancer to the extraocular muscle: a case report. J Med Case Rep. 2019 Apr 26;13(1):107 Authors: Goto S, Takeda H, Sasahara Y, Takanashi I, Yamashita H Abstract BACKGROUND: Metastatic tumors in the orbit, especially from gastric cancer, are rare. We present a rare case of extraocular muscle metastasis from gastric cancer and raise consideration of metastasis to extraocular muscle as a differential diagnosis...
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Diagnosis and treatment of oral focal mucinosis: a case series.
Related ArticlesDiagnosis and treatment of oral focal mucinosis: a case series. J Med Case Rep. 2019 Apr 26;13(1):108 Authors: Higuchi Y, Tsushima F, Sumikura K, Sato Y, Harada H, Kayamori K, Ikeda T Abstract BACKGROUND: Oral focal mucinosis, the oral counterpart of cutaneous focal mucinosis, is a rare disease. As it has no characteristic clinical or radiological features, diagnosis is established by histopathological and immunohistological examination....
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A step-wise approach for establishing a multidisciplinary team for the management of tuberous sclerosis complex: a Delphi consensus report.
Related ArticlesA step-wise approach for establishing a multidisciplinary team for the management of tuberous sclerosis complex: a Delphi consensus report. Orphanet J Rare Dis. 2019 04 30;14(1):91 Authors: Auvin S, Bissler JJ, Cottin V, Fujimoto A, Hofbauer GFL, Jansen AC, Jóźwiak S, Kerecuk L, Kingswood JC, Moavero R, Torra R, Villanueva V Abstract BACKGROUND: Tuberous sclerosis complex (TSC) is a rare autosomal dominant genetic disorder associated...
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Thrombotic Microangiopathy in Cancer.
Related ArticlesThrombotic Microangiopathy in Cancer. Semin Thromb Hemost. 2019 Jun;45(4):348-353 Authors: Weitz IC Abstract Thrombotic microangiopathy (TMA) is a rare but often devastating complication of cancer and cancer treatment. The syndrome is defined by thrombocytopenia (i.e., a platelet count of < 150,000/mcL or > 30% decrease from baseline), microangiopathic hemolytic anemia, and some evidence of organ damage. Among the nine recognized...
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Mutation analysis of POLE gene in patients with early-onset colorectal cancer revealed a rare silent variant within the endonuclease domain with potential effect on splicing.
Related ArticlesMutation analysis of POLE gene in patients with early-onset colorectal cancer revealed a rare silent variant within the endonuclease domain with potential effect on splicing. Clin Exp Med. 2019 Aug;19(3):393-400 Authors: Lasabová Z, Kalman M, Holubeková V, Grendár M, Kašubová I, Jašek K, Meršaková S, Malicherová B, Baranenko D, Adamek M, Kruzliak P, Plank L Abstract The colorectal cancer harbor germline, somatic or epimutations in mismatch...
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Burden of adult neurofibromatosis 1: development and validation of a burden assessment tool.
Related ArticlesBurden of adult neurofibromatosis 1: development and validation of a burden assessment tool. Orphanet J Rare Dis. 2019 05 03;14(1):94 Authors: Armand ML, Taieb C, Bourgeois A, Bourlier M, Bennani M, Bodemer C, Wolkenstein P, along with the French national network on rare skin diseases (FIMARAD) Abstract BACKGROUND: Neurofibromatosis Type 1 (NF1) is a common genetic neurocutaneous disease, with an autosomal dominant inheritance mode....
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Hematopoietic stem cell transplantation in a patient with type 1 mosaic variegated aneuploidy syndrome.
Related ArticlesHematopoietic stem cell transplantation in a patient with type 1 mosaic variegated aneuploidy syndrome. Orphanet J Rare Dis. 2019 05 03;14(1):97 Authors: Laberko A, Balashov D, Deripapa E, Soldatkina O, Raikina E, Maschan A, Novichkova G, Shcherbina A Abstract BACKGROUND: Mosaic variegated aneuploidy (MVA) syndrome is a chromosomal instability disorder that leads to aneuploidies of different chromosomes in various tissues. Type 1 MVA...
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Safety and efficacy of mTOR inhibitor treatment in patients with tuberous sclerosis complex under 2 years of age - a multicenter retrospective study.
Related ArticlesSafety and efficacy of mTOR inhibitor treatment in patients with tuberous sclerosis complex under 2 years of age - a multicenter retrospective study. Orphanet J Rare Dis. 2019 05 03;14(1):96 Authors: Saffari A, Brösse I, Wiemer-Kruel A, Wilken B, Kreuzaler P, Hahn A, Bernhard MK, van Tilburg CM, Hoffmann GF, Gorenflo M, Hethey S, Kaiser O, Kölker S, Wagner R, Witt O, Merkenschlager A, Möckel A, Roser T, Schlump JU, Serfling A, Spiegler J, Milde T, Ziegler...
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Loss of 1p36.33 Frequent in Low-Grade Serous Ovarian Cancer.
Related ArticlesLoss of 1p36.33 Frequent in Low-Grade Serous Ovarian Cancer. Neoplasia. 2019 06;21(6):582-590 Authors: Van Nieuwenhuysen E, Busschaert P, Laenen A, Moerman P, Han SN, Neven P, Lambrechts D, Vergote I Abstract BACKGROUND: Low-grade serous ovarian cancer (LGSOC) is a rare subtype of epithelial ovarian carcinoma. Limited data regarding the molecular-genetic background exist beyond mutations in the RAS signaling pathway. There is a growing...
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Potent anti-tumor efficacy of palbociclib in treatment-naïve H3.3K27M-mutant diffuse intrinsic pontine glioma.
Related ArticlesPotent anti-tumor efficacy of palbociclib in treatment-naïve H3.3K27M-mutant diffuse intrinsic pontine glioma. EBioMedicine. 2019 May;43:171-179 Authors: Sun Y, Sun Y, Yan K, Li Z, Xu C, Geng Y, Pan C, Chen X, Zhang L, Xi Q Abstract BACKGROUND: Diffuse intrinsic pontine glioma (DIPG) is a rare and fatal pediatric brain cancer without cure. Seeking therapeutic strategies is still a major challenge in DIPG research. Previous study has...
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Unusual Cause of Facial Asymmetry: Sturge-Weber Syndrome.
Related ArticlesUnusual Cause of Facial Asymmetry: Sturge-Weber Syndrome. J Craniofac Surg. 2019 Oct;30(7):e585-e586 Authors: Ogul H, Kiziloglu A Abstract Sturge-Weber syndrome is a rare neurocutaneous disease, also called encephalotrigeminal angiomatosis. In this study, we aimed to present a patient with Sturge-Weber syndrome who had atypical radiological findings and with dural arteriovenous fistula. The patient presented with hemifacial asymmetry....
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Total Talectomy and Reconstruction Using a 3-dimensional Printed Talus Prosthesis for Ewing's Sarcoma: A 3.5-Year Follow-up.
Related ArticlesTotal Talectomy and Reconstruction Using a 3-dimensional Printed Talus Prosthesis for Ewing's Sarcoma: A 3.5-Year Follow-up. Orthopedics. 2019 Jul 01;42(4):e405-e409 Authors: Papagelopoulos PJ, Sarlikiotis T, Vottis CT, Agrogiannis G, Kontogeorgakos VA, Savvidou OD Abstract Ewing's sarcoma is extremely rare in the foot. Below the knee amputation is indicated for most primary malignant bone tumors of the hindfoot, with few cases of successful...
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Generalized crystal-storing histiocytosis with diffuse large B-cell lymphoma and monoclonal gammopathy in a Chinese elderly woman: a case report.
Related ArticlesGeneralized crystal-storing histiocytosis with diffuse large B-cell lymphoma and monoclonal gammopathy in a Chinese elderly woman: a case report. BMC Cancer. 2019 May 29;19(1):514 Authors: Tao Q, Zhang W, Chen Z, Gao L, Yan J, Wang M, Xiang C, Liu W Abstract BACKGROUND: Crystal-storing histiocytosis (CSH) is a rare lesion characterized by sheets of crystal-laden non-neoplastic histiocytes. CSH shows a prominent association with lymphoproliferative...
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The role of targeted therapy in thymic carcinoma.
Related ArticlesThe role of targeted therapy in thymic carcinoma. J Oncol Pharm Pract. 2019 Oct;25(7):1712-1718 Authors: Krishnan M, Ganti AK Abstract Thymic carcinoma is a rare entity and can be distinguished from benign thymomas by their aggressive nature and poor prognosis. The National Comprehensive Cancer Network guidelines recommend resection followed by adjuvant platinum-based chemotherapy for resectable tumors. However, the outcomes for metastatic...
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Molecular characterization of metastasizing ameloblastoma: A comprehensive review.
Related ArticlesMolecular characterization of metastasizing ameloblastoma: A comprehensive review. J Cancer Res Ther. 2019 Jul-Sep;15(3):455-462 Authors: Ganjre AP, Sarode G, Sarode S Abstract Metastasizing ameloblastoma (MA) is a very rare odontogenic tumor with 2% of incidence rate. It exhibits benign histopathological features and malignant intrinsic quality in the form of metastasis which makes it a little more than a pathological curiosity. Various...
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Clinicopathological analysis of extracranial head and neck schwannoma: A case series.
Related ArticlesClinicopathological analysis of extracranial head and neck schwannoma: A case series. J Cancer Res Ther. 2019 Jul-Sep;15(3):659-664 Authors: Sharma P, Zaheer S, Goyal S, Ahluwalia C, Goyal A, Bhuyan G, Mandal AK Abstract Background: Extracranial head and neck schwannomas are rare tumors which are often clinically misdiagnosed. Preoperative diagnosis of these tumors is challenging but imperative for surgeons so as to avoid nerve damage...
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Nonthyroidal metastatic lesion in thyroid: A missed diagnosis and a lesson learnt.
Related ArticlesNonthyroidal metastatic lesion in thyroid: A missed diagnosis and a lesson learnt. J Cancer Res Ther. 2019 Jul-Sep;15(3):665-668 Authors: Prameela CG, Ravind R, Sruthi K Abstract Background: Blood supply to the thyroid is relatively high when compared to that of liver. Despite this documented metastatic deposit in thyroid remains a rarity. Synchronous nonthyroidal metastatic deposit in thyroid from a lung primary is relatively rare....
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Carcinoma buccal mucosa with left axillary lymph node metastasis: First reported case and review of the literature.
Related ArticlesCarcinoma buccal mucosa with left axillary lymph node metastasis: First reported case and review of the literature. J Cancer Res Ther. 2019 Jul-Sep;15(3):693-695 Authors: Pandey R, Biswas R, Halder A, Pandey D Abstract Head-and-neck squamous cell carcinomas are tumors with propensity mostly for locoregional spread. The most frequent sites of metastasis include lung, bone, liver, adrenal, heart, and kidney. Distant metastasis to axillary...
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A mixed radiopaque - radiolucent lesion in the anterior mandible associated with multiple impacted teeth: A radiodiagnostic challenge?
Related ArticlesA mixed radiopaque - radiolucent lesion in the anterior mandible associated with multiple impacted teeth: A radiodiagnostic challenge? J Cancer Res Ther. 2019 Jul-Sep;15(3):700-703 Authors: Bhandarkar GP, Shetty KV, Desai D Abstract Desmoplastic ameloblastoma (DA) exhibits important differences in gender, anatomic distribution, radiographic findings, and histologic appearance compared to other types of ameloblastoma. Radiologically,...
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Osteoclastic variant of anaplastic thyroid carcinoma: A case report of rare entity.
Related ArticlesOsteoclastic variant of anaplastic thyroid carcinoma: A case report of rare entity. J Cancer Res Ther. 2019 Jul-Sep;15(3):704-707 Authors: Shelly D, Gupta D, Mishra S, Bharadwaj R Abstract Anaplastic thyroid carcinoma (ATC) is a rare, highly malignant thyroid tumor with dismal prognosis. Osteoclastic giant cell variant of ATC is extremely rare and is characterized by the presence of a large number of multinucleated giant cells resembling...
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Nonkeratinizing squamous cell carcinoma: A rare case report with oral involvement.
Related ArticlesNonkeratinizing squamous cell carcinoma: A rare case report with oral involvement. J Cancer Res Ther. 2019 Jul-Sep;15(3):708-711 Authors: Agrawal R, Kumar N, Gupta K, Gupta N Abstract Transitional cell carcinoma also known as nonkeratinizing carcinoma (NKCa) of sinonasal tract comprises 15%-20% of malignant sinonasal carcinoma. We are reporting the case of 48-year-old male with a history of tooth extraction. A computed tomography was...
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Primary mucoepidermoid carcinoma of the bulbar conjunctiva.
Related ArticlesPrimary mucoepidermoid carcinoma of the bulbar conjunctiva. J Cancer Res Ther. 2019 Jul-Sep;15(3):712-714 Authors: Dutta B, Biswas N, Roy R, Deb AR Abstract A 58-year-old male presented with redness for 1 year and dimness of vision for 2 years in his left eye. Excision biopsy from an inferotemporal conjunctival mass revealed high-grade mucoepidermoid carcinoma (MEC) with lymphovascular invasion and positive margins. The tumor bed was...
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Solitary fibrous tumor of the orbit: Computed tomography and histopathological findings.
Related ArticlesSolitary fibrous tumor of the orbit: Computed tomography and histopathological findings. J Cancer Res Ther. 2019 Jul-Sep;15(3):719-721 Authors: Sayit AT, Elmali M, Gul A, Sullu Y Abstract A solitary fibrous tumor is a rare spindle cell neoplasm originating from the mesenchyme. This type of tumor of the orbit is very uncommon and can be misdiagnosed as a hemangiopericytoma, fibrous histiocytoma, meningioma, or neurofibroma. We report...
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A rare case: Branch retinal vein occlusion associated with the use of tamoxifen.
Related ArticlesA rare case: Branch retinal vein occlusion associated with the use of tamoxifen. J Cancer Res Ther. 2019 Jul-Sep;15(3):722-724 Authors: Demirci NS, Erdem GU, Uçgun Nİ, Bozkaya Y, Ozdemir NY, Dogan M, Zengin N Abstract Tamoxifen-induced ocular complications including cataracts, keratopathies, retinopathy, impaired visual acuity, ocular irritation, optical neuritis, and retinal vein occlusion are uncommonly reported in the literature....
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Inflammatory myofibroblastic tumor of the oral cavity: A case report and literature review.
Related ArticlesInflammatory myofibroblastic tumor of the oral cavity: A case report and literature review. J Cancer Res Ther. 2019 Jul-Sep;15(3):725-728 Authors: Shetty SJ, Pereira T, Desai RS Abstract Inflammatory myofibroblastic tumor (IMT) is a rare tumor of unknown etiology and pathogenesis. The lesion has been recognized to occur at various sites but rarely affects the head and neck region. A 29-year-old male presented with a 13 months' history...
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