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Retinoblastoma metastasis

Jesse L Berry, Kaitlin Kogachi, Hassan A Aziz, Kathleen McGovern, Emily Zolfaghari, A Linn Murphree, Rima Jubran, Jonathan W Kim
BACKGROUND: The purpose of this study was to evaluate the risk of metastatic disease and orbital recurrence in advanced retinoblastoma treated with systemic chemoreduction versus primary enucleation. METHODS: A retrospective review of patients with Group D/E retinoblastoma was conducted with data collection from 1995 to 2015. Overall, 345 eyes (294 patients) were included (165 Group D and 180 Group E). Primary outcome measures were orbital recurrence and metastatic disease...
April 2017: Pediatric Blood & Cancer
Ido Didi Fabian, Francesco Puccinelli, Marie-Claire Gaillard, Maja Beck-Popovic, Francis L Munier
BACKGROUND: Reports on retinoblastoma relapse at the optic nerve head (ONH) are anecdotal and include only treatments by external beam radiotherapy (EBRT) or enucleation. We aimed to describe such cases, termed secondary epipapillary retinoblastoma, diagnosed and monitored with the assistance of hand-held spectral domain optical coherence tomography (HHSD-OCT) and treated with intraophthalmic artery chemotherapy (IAC) and/or intravitreous chemotherapy (IViC). METHODS: A retrospective analysis of secondary epipapillary retinoblastoma cases treated conservatively...
February 9, 2017: British Journal of Ophthalmology
Cornelia Roschger, Chiara Cabrele
Inhibitors of DNA binding and cell differentiation (Id) proteins are members of the large family of the helix-loop-helix (HLH) transcription factors, but they lack any DNA-binding motif. During development, the Id proteins play a key role in the regulation of cell-cycle progression and cell differentiation by modulating different cell-cycle regulators both by direct and indirect mechanisms. Several Id-protein interacting partners have been identified thus far, which belong to structurally and functionally unrelated families, including, among others, the class I and II bHLH transcription factors, the retinoblastoma protein and related pocket proteins, the paired-box transcription factors, and the S5a subunit of the 26 S proteasome...
January 25, 2017: Cell Communication and Signaling: CCS
Dong Hyun Jo, Kyungmin Lee, Jin Hyoung Kim, Hyoung Oh Jun, Younghoon Kim, Young-Lai Cho, Young Suk Yu, Jeong-Ki Min, Jeong Hun Kim
Retinoblastoma is the most common intraocular cancer in children, affecting 1/20,000 live births. Currently, children with retinoblastoma were treated with chemotherapy using drugs such as carboplatin, vincristine, and etoposide. Unfortunately, if conventional treatment fails, the affected eyes should be removed to prevent extension into adjacent tissues and metastasis. This study is to investigate the roles of L1 in adhesion-mediated proliferation and chemoresistance of retinoblastoma. L1 was differentially expressed in 30 retinoblastoma tissues and 2 retinoblastoma cell lines...
January 4, 2017: Oncotarget
Özge Yanık, Kaan Gündüz, Kıvılcım Yavuz, Nurdan Taçyıldız, Emel Ünal
Retinoblastoma (RB) is the most common childhood malignant intraocular tumor. Although enucleation and external beam radiotherapy have been historically used, today the most commonly used eye-sparing approach is chemotherapy. Chemotherapy can be used in both intraocular and extraocular RB cases. Chemotherapeutic agents may be applied in different ways, including systemic, subconjunctival, intra-arterial and intravitreal routes. The main purposes of application of systemic therapy are to reduce the tumor size for local treatment (chemoreduction), or to reduce the risk of metastasis after enucleation surgery (adjuvant therapy)...
December 2015: Turkish Journal of Ophthalmology
Carol L Shields, Ann M Leahey
No abstract text is available yet for this article.
December 1, 2016: JAMA Ophthalmology
Vikram Shetty, Ganapathy Sriram S
Retinoblastoma (RB) is an aggressive intraocular tumor arising from cells of the retina. Infrequently, distant metastasis occurs in advanced stages of the disease. This case report describes the metastasis of the tumor to the mandible, an extremely rare phenomenon. This condition was observed for a recurrent tumor in a patient who initially underwent chemotherapy, making this case report unique and providing new insights into the behavior of this tumor. An overview of the management of a metastatic RB also is discussed...
September 28, 2016: Journal of Oral and Maxillofacial Surgery
Lina Raffa, Anne-Sophie Carret, Patrick Hamel, Rosanne Superstein, Benjamin Ellezam
The authors report two cases of retinoblastoma with extension along the optic nerve sheath with negative surgical margins, a pattern not considered in current classifications but suggesting a high risk of metastasis. Both patients were treated with adjuvant chemotherapy alone and remain free of extraocular disease 15 and 22 months later. [J Pediatr Ophthalmol Strabismus. 2016;53:e51-e53.].
September 24, 2016: Journal of Pediatric Ophthalmology and Strabismus
E C Maggi, J Trillo-Tinoco, A P Struckhoff, J Vijayaraghavan, L Del Valle, J S Crabtree
Neuroendocrine tumors (NETs), which can have survival rates as low as 4%, currently have limited therapeutic interventions available highlighting the dire need for the identification of novel biological targets for use as new potential drug targets. One such potential target is retinoblastoma-binding protein 2 (RBP2), an H3K4 demethylase whose overexpression has been linked to cancer formation and metastasis in non-endocrine tumor types. We measured RBP2 mRNA and protein levels in enteropancreatic NETs by measuring RBP2 in matched human normal and NET tissue samples...
2016: Oncogenesis
Swathi Kaliki, Prerana Tahiliani, Sadiya Iram, Mohammed Hasnat Ali, Dilip K Mishra, Vijay Anand P Reddy
PURPOSE: To identify the clinical features predictive of choroidal infiltration by retinoblastoma on histopathology and to report the outcome in these patients. METHODS: Retrospective study. RESULTS: Of the 403 patients who underwent primary enucleation for retinoblastoma, 113 patients had choroidal tumor infiltration and 290 patients had no choroidal tumor infiltration. There was a higher incidence of metastasis and related death in the choroidal tumor infiltration group compared to the no choroidal tumor infiltration group (4% vs 1%; P = ...
November 1, 2016: Journal of Pediatric Ophthalmology and Strabismus
Shu Liu, Chunmei Hu, Yingxue Wang, Guang Shi, Yarong Li, Huang Wu
A growing body of evidence suggests that microRNA-124 (miR-124) functions as tumor-suppressor, and involves in tumor initiation, development and metastasis in major classes of human cancers; however, the biological role and underlying molecular mechanism of miR-124 in retinoblastoma (RB) remain unknown. Therefore, we investigated the biological activity and underlying molecular mechanism of miR-124 in human retinoblastoma. In the present study, our results demonstrated the downregulation of miR-124 in RB tissues and RB cell lines compared with normal retinal tissues...
October 2016: Oncology Reports
Xiaohua Li, Lan Yang, Tianjiao Shuai, Tianhua Piao, Rui Wang
Retinoblastoma (RB) is the most frequent primary intraocular cancer. It has been demonstrated by previous studies that retinoblastoma is initiated primarily by the inactivation of the retinoblastoma Rb1 gene in retinal cells. However, additional genetic alterations than Rb1 mutation could play important roles in the process of transforming benign retinal cells into retinoblastoma tumor cells. In this study, we identified that microRNA miR-433 is one of such genetic factors. We found that the expression levels of miR-433 were downregulated in RB tissues...
August 2016: Biomedicine & Pharmacotherapy, Biomédecine & Pharmacothérapie
Hilary Racher, Sameh Soliman, Bob Argiropoulos, Helen S L Chan, Brenda L Gallie, Renée Perrier, Donco Matevski, Diane Rushlow, Beata Piovesan, Furqan Shaikh, Heather MacDonald, Timothy W Corson
The pediatric ocular tumor retinoblastoma readily metastasizes, but these lesions can masquerade as histologically similar pediatric small round blue cell tumors. Since 98% of retinoblastomas have RB1 mutations and a characteristic genomic copy number "signature", genetic analysis is an appealing adjunct to histopathology to distinguish retinoblastoma metastasis from second primary cancer in retinoblastoma patients. Here, we describe such an approach in two retinoblastoma cases. In patient one, allele-specific (AS)-PCR for a somatic nonsense mutation confirmed that a temple mass was metastatic retinoblastoma...
July 2016: Cancer Genetics
Dahai Zhou, Vinodh Kannappan, Xiang Chen, Jingqin Li, Xuefeng Leng, Jinping Zhang, Shiying Xuan
Renal cell carcinoma (RCC), one of the most common kidney cancers, has a poor prognosis. Epithelial to mesenchymal transition (EMT) is a hallmark of carcinoma invasion and metastasis. Several studies have examined the molecular regulation of EMT, but the relationship between histone demethylases and EMT is little understood. In this study, we investigated the role of retinoblastoma-binding protein-2 (RBP2), a histone demethylase that is highly expressed in RCC and is positively correlated with poor RCC prognosis in the regulation of EMT...
2016: Experimental & Molecular Medicine
S Mohammadi Yeganeh, M Vasei, R Tavakoli, V Kia, M Paryan
Breast cancer is a heterogeneous disease, and among all types, triple-negative breast cancer (TNBC) is characterised by high risk of recurrence. The discovery of microRNAs (miRNA) has opened the door for targeted therapy of TNBC. miR-340 down-regulation and sub-G1-accumulated cells in flowcytometry were observed in metastatic TNBC cells (data in publication), leading us to investigate the potential tumour suppressive role of this miRNA on cell-cycle-related genes. A lentiviral vector containing miR-340 was applied to over-express miR-340 in TNBC cell line, MDA-MB-231...
May 27, 2016: European Journal of Cancer Care
Abhishek Purkayastha, Neelam Sharma, Abhishek Pathak, Bhupendra Nath Kapur, Vibha Dutta
Retinoblastoma (Rb) is a common childhood malignancy but bilateral Rb with metastasis to parotids is very uncommon. To the best of our knowledge, bilateral Rb metastasizing to parotids is very rare and this is the fifth such case reported in world literature till date in a 2-year-old male child who underwent exenteration of left eye for bilateral Rb and later developed recurrent metastasis to left parotid requiring parotidectomy. A year later he presented again with swelling left parotid region extending from occipital region reaching upto left anterior chest wall with intra-cranial extension on magnetic resonance imaging...
April 2016: Translational pediatrics
Rohini M Nair, Geeta K Vemuganti
Understanding the mechanism of retinoblastoma (Rb) tumor initiation, development, progression and metastasis in vivo mandates the use of animal models that mimic this intraocular tumor in its genetic, anatomic, histologic and ultrastructural features. An early setback for developing mouse Rb models was that Rb mutations did not cause tumorigenesis in murine retinas. Subsequently, the discovery that the p107 protein takes over the role of pRb in mice led to the development of several animal models that phenotypically and histologically resemble the human form...
April 2015: Ocular Oncology and Pathology
Mark P Labrecque, Mandeep K Takhar, Rebecca Nason, Stephanie Santacruz, Kevin J Tam, Shabnam Massah, Anne Haegert, Robert H Bell, Manuel Altamirano-Dimas, Colin C Collins, Frank J S Lee, Gratien G Prefontaine, Michael E Cox, Timothy V Beischlag
Loss of tumor suppressor proteins, such as the retinoblastoma protein (Rb), results in tumor progression and metastasis. Metastasis is facilitated by low oxygen availability within the tumor that is detected by hypoxia inducible factors (HIFs). The HIF1 complex, HIF1α and dimerization partner the aryl hydrocarbon receptor nuclear translocator (ARNT), is the master regulator of the hypoxic response. Previously, we demonstrated that Rb represses the transcriptional response to hypoxia by virtue of its association with HIF1...
April 26, 2016: Oncotarget
Xunda Ji, Peiyan Hua, Jing Li, Jiakai Li, Junyang Zhao, Peiquan Zhao
Purpose. To evaluate the efficacy of intravitreal melphalan for vitreous seeds from retinoblastoma in Chinese patients. Methods. This is a retrospective review of 17 consecutive Chinese patients (19 eyes) with viable vitreous seeds from retinoblastoma. The patients received multiple intravitreal injections of 20 ug melphalan. Results. The International Classification of Retinoblastoma groups were B in 1 eye, C in 5 eyes, D in 11 eyes, and E in 2 eyes. On average, 6 injections (range: 1-15) were given to each eye at the interval of 2-4 weeks...
2016: Journal of Ophthalmology
Sandhya Payankaulam, Kelvin Yeung, Helen McNeill, R William Henry, David N Arnosti
In addition to their canonical roles in the cell cycle, RB family proteins regulate numerous developmental pathways, although the mechanisms remain obscure. We found that Drosophila Rbf1 associates with genes encoding components of the highly conserved apical-basal and planar cell polarity pathways, suggesting a possible regulatory role. Here, we show that depletion of Rbf1 in Drosophila tissues is indeed associated with polarity defects in the wing and eye. Key polarity genes aPKC, par6, vang, pk, and fmi are upregulated, and an aPKC mutation suppresses the Rbf1-induced phenotypes...
March 14, 2016: Scientific Reports
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