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Rhabdomyosarcoma

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https://www.readbyqxmd.com/read/28222777/identification-of-somatic-and-germ-line-dicer1-mutations-in-pleuropulmonary-blastoma-cystic-nephroma-and-rhabdomyosarcoma-tumors-within-a-dicer1-syndrome-pedigree
#1
Lorena Fernández-Martínez, José Antonio Villegas, Íñigo Santamaría, Ana S Pitiot, Marta G Alvarado, Soledad Fernández, Héctor Torres, Ángeles Paredes, Pilar Blay, Milagros Balbín
BACKGROUND: DICER1 syndrome is a pediatric cancer predisposition condition causing a variety of tumor types in children and young adults. In this report we studied a family with two relatives presenting a variety of neoplastic conditions at childhood. METHODS: Germ-line mutation screening of the complete coding region of the DICER1 gene in genomic DNA from the proband was performed. The presence of somatic DICER1 mutation and further alterations in driver genes was investigated in genomic DNA obtained from available tumor samples...
February 21, 2017: BMC Cancer
https://www.readbyqxmd.com/read/28211936/reduction-of-cyclophosphamide-dose-for-patients-with-subset-2-low-risk-rhabdomyosarcoma-is-associated-with-an-increased-risk-of-recurrence-a-report-from-the-soft-tissue-sarcoma-committee-of-the-children-s-oncology-group
#2
David O Walterhouse, Alberto S Pappo, Jane L Meza, John C Breneman, Andrea Hayes-Jordan, David M Parham, Timothy P Cripe, James R Anderson, William H Meyer, Douglas S Hawkins
BACKGROUND: Failure-free survival (FFS) and overall survival (OS) rates were found to improve on Intergroup Rhabdomyosarcoma Study (IRS) IV (IRS-IV) compared with IRS-III for patients with subset 2 (IRS stage 1, group III nonorbit or stage 3, group I/II) low-risk embryonal rhabdomyosarcoma with the addition of cyclophosphamide (total cumulative cyclophosphamide dose of 26.4 g/m(2) ) to the combination of vincristine and dactinomycin (VAC). The goal of Children's Oncology Group ARST0331 for subset 2 low-risk patients was to reduce the total cumulative cyclophosphamide dose without compromising FFS...
February 17, 2017: Cancer
https://www.readbyqxmd.com/read/28211476/novel-roles-for-staufen1-in-embryonal-and-alveolar-rhabdomyosarcoma-via-c-myc-dependent-and-independent-events
#3
Tara E Crawford Parks, Kristen A Marcellus, Jonathan Langill, Aymeric Ravel-Chapuis, Jean Michaud, Kyle N Cowan, Jocelyn Côté, Bernard J Jasmin
Rhabdomyosarcoma is the most common soft tissue sarcoma in children and young adults. Rhabdomyosarcomas are skeletal muscle-like tumours that typically arise in muscle beds, and express key myogenic regulatory factors. However, their developmental program remains blocked in the proliferative phase with cells unable to exit the cell cycle to fuse into myotubes. Recently, we uncovered a key role for the RNA-binding protein Staufen1 during myogenic differentiation through the regulation of c-myc translation. Given the known implication of c-myc in rhabdomyosarcoma, we hypothesized in the current work that Staufen1 controls rhabdomyosarcoma tumorigenesis...
February 17, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28205365/paratesticular-rhabdomyosarcoma-in-children-and-adolescents-outcome-and-patterns-of-relapse-when-utilizing-a-nonsurgical-strategy-for-lymph-node-staging-report-from-the-international-society-of-paediatric-oncology-siop-malignant-mesenchymal-tumour-89-and-95
#4
Timothy Rogers, Veronique Minard-Colin, Nathalie Cozic, Meriel Jenney, Johannes H M Merks, Soledad Gallego, Christine Devalck, Mark N Gaze, Anna Kelsey, Odile Oberlin, Mike Stevens, Richard D Spicer, Christophe Bergeron, Helene Martelli
PURPOSE: To report the results from International Society of Pediatric Oncology (SIOP) Malignant Mesenchymal Tumors studies (MMT 89 and 95) of males with nonmetastatic paratesticular rhabdomyosarcoma. METHODS: From 1989 to 2003, 159 patients were included. Radical inguinal orchidectomy was recommended, but retroperitoneal lymph node (LN) assessment was based on imaging alone. The treatment was stratified by stage (SIOP tumor-node-metastasis staging system) and histology...
February 16, 2017: Pediatric Blood & Cancer
https://www.readbyqxmd.com/read/28203467/costello-syndrome-and-umbilical-ligament-rhabdomyosarcoma-in-two-pediatric-patients-case-reports-and-review-of-the-literature
#5
Carlos Sánchez-Montenegro, Alejandra Vilanova-Sánchez, Saturnino Barrena-Delfa, Jair Tenorio, Fernando Santos-Simarro, Sixto García-Miñaur, Pablo Lapunzina, Leopoldo Martínez-Martínez
Costello syndrome is caused by heterozygous de novo missense mutations in the protooncogene HRAS with tumor predisposition, especially rhabdomyosarcoma. We here report two pediatric patients with Costello syndrome and umbilical ligament rhabdomyosarcoma. A review of the literature published in English in MEDLINE from January 1971 to June 2016 using the search terms "Costello syndrome" and "rhabdomyosarcoma" was performed, including two new cases that we describe. Twenty-six patients with Costello syndrome and rhabdomyosarcoma were recorded with mean age of diagnosis of 2 years and 8 months...
2017: Case Reports in Genetics
https://www.readbyqxmd.com/read/28198595/free-microvascular-rotationplasty-with-nerve-repair-for-rhabdomyosarcoma-in-a-18-month-old-patient
#6
Alberto Pérez-García, Marta Salom, María Eloísa Villaverde-Doménech, Francisco Baixauli, Eduardo Simón-Sanz
Rotationplasty is a limb-sparing surgical option in lower limb malignancies. Sciatic or tibial nerve encasement has been considered an absolute contraindication to this procedure. We report a case of an 18-month-old girl with a rhabdomyosarcoma that affected the leg and popliteal fossa, with neurovascular involvement. Knee and proximal leg intercalary resection was performed followed by reconstruction with free microvascular rotationplasty and neurorraphy from tibial division of sciatic nerve to sural and tibial nerves, and from saphenous nerve to superficial peroneal nerve...
February 15, 2017: Microsurgery
https://www.readbyqxmd.com/read/28197537/fusion-rna-profiling-provides-hints-on-cell-of-origin-of-mysterious-tumor
#7
Zhongqiu Xie, Hui Li
Biological samples can be grouped into separate clusters based on their gene expression profiles. This approach has yielded meaningful biological insights and facilitated biomarker discoveries. Recently, we developed another approach to study connections between biological samples based on their fusion RNA expression. We have used this approach to provide insights into the cell of origin for a mysterious tumor, alveolar rhabdomyosarcoma.
2017: Molecular & Cellular Oncology
https://www.readbyqxmd.com/read/28195812/survival-with-persistent-metastatic-alveolar-rhabdomyosarcoma
#8
Ronald R Louie, Michael Harris, Kathleen Shields
No abstract text is available yet for this article.
February 14, 2017: Journal of Oncology Practice
https://www.readbyqxmd.com/read/28194276/a-case-report-of-concurrent-embryonal-rhabdomyosarcoma-and-diffuse-large-b-cell-lymphoma-in-an-adult-without-identifiable-cancer-predisposition
#9
M D Mathias, M V Ortiz, H Magnan, S R Ambati, E K Slotkin, A J Chou, M F Walsh, K Offit, C Moskowitz, A Kentsis, L H Wexler
BACKGROUND: Diffuse large B-cell lymphoma (DLBCL) is the most common form of non-Hodgkin lymphoma. Rhabdomyosarcoma, the most common soft tissue sarcoma of childhood. makes up less than 1% of solid malignancies in adults with around 400 new cases each year in the United States. They have not previously been reported concurrently. CASE PRESENTATION: A 37 year old woman presented with painful enlarging leg mass. Biopsy of the mass was consistent with embryonal rhabdomyosarcoma...
2017: Biomarker Research
https://www.readbyqxmd.com/read/28173865/stage-1-embryonal-rhabdomyosarcoma-of-the-female-genital-tract-a-retrospective-clinical-study-of-nine-cases
#10
Guangwen Yuan, Hongwen Yao, Xiaoguang Li, Hongjun Li, Lingying Wu
BACKGROUND: The aim of the study is to investigate the clinical features, treatments, and prognosis of stage 1 embryonal rhabdomyosarcoma of the female genital tract. METHODS: A retrospective analysis was performed on nine cases of stage 1 embryonal rhabdomyosarcoma of the female genital tract. Clinical characteristics, treatments, recurrence, and prognosis were analyzed. RESULTS: Of the nine patients with embryonal rhabdomyosarcoma, three originated from the vagina and six from the cervix...
February 7, 2017: World Journal of Surgical Oncology
https://www.readbyqxmd.com/read/28153134/distinctive-head-and-neck-bone-and-soft-tissue-neoplasms
#11
REVIEW
Bibianna Purgina, Chi K Lai
Benign and malignant primary bone and soft tissue lesions of the head and neck are rare. The uncommon nature of these tumors, combined with the complex anatomy of the head and neck, pose diagnostic challenges to pathologists. This article describes the pertinent clinical, radiographic, and pathologic features of selected bone and soft tissue tumors involving the head and neck region, including angiofibroma, glomangiopericytoma, rhabdomyosarcoma, biphenotypic sinonasal sarcoma, chordoma, chondrosarcoma, and osteosarcoma...
March 2017: Surgical Pathology Clinics
https://www.readbyqxmd.com/read/28138962/pax3-foxo1-is-essential-for-tumour-initiation-and-maintenance-but-not-recurrence-in-a-human-myoblast-model-of-rhabdomyosarcoma
#12
Puspa R Pandey, Bishwanath Chatterjee, Mary E Olanich, Javed Khan, Markku M Miettinen, Stephen M Hewitt, Frederic G Barr
The PAX3-FOXO1 fusion gene is generated by a 2;13 chromosomal translocation and is a characteristic feature of an aggressive subset of rhabdomyosarcoma (RMS). To dissect the mechanism of oncogene action during RMS tumourigenesis and progression, doxycycline-inducible PAX3-FOXO1 and constitutive MYCN expression constructs were introduced into immortalised human myoblasts. Though myoblasts expressing PAX3-FOXO1 or MYCN alone were not transformed in focus formation assays, combined PAX3-FOXO1 and MYCN expression resulted in transformation...
January 31, 2017: Journal of Pathology
https://www.readbyqxmd.com/read/28129857/discovering-novel-oncogenic-pathways-and-new-therapies-using-zebrafish-models-of-sarcoma
#13
M N Hayes, D M Langenau
Sarcoma is a type of cancer affecting connective, supportive, or soft tissue of mesenchymal origin. Despite rare incidence in adults (<1%), over 15% of pediatric cancers are sarcoma. Sadly, both adults and children with relapsed or metastatic disease have devastatingly high rates of mortality. Current treatment options for sarcoma include surgery, radiation, and/or chemotherapy; however, significant limitations exist with respect to the efficacy of these strategies. Strong impetus has been placed on the development of novel therapies and preclinical models for uncovering mechanisms involved in the development, progression, and therapy resistance of sarcoma...
2017: Methods in Cell Biology
https://www.readbyqxmd.com/read/28129571/investigation-of-igf2-igfbp2-and-p63-proteins-in-rhabdomyosarcoma-tumors
#14
Yongbo Yu, Libing Fu, Shen Wang, Yaqiong Jin, Shujing Han, Ping Chu, Jie Lu, Yongli Guo, Lejian He, Xin Ni
: Many efforts have been made to address involvement of the insulin-like growth-factor (IGF) pathway in rhabdomyosarcoma (RMS) pathogenesis, but the actual role of IGF in RMS is still controversial. OBJECTIVE: To investigate the implications of IGF2, IGFBP2 and p63 in RMS, and further explored their potential interaction. DESIGN: A total of 114 specimens of RMS along with clinic-pathologic characteristics were collected from the year of 2003 to 2013...
January 13, 2017: Growth Hormone & IGF Research
https://www.readbyqxmd.com/read/28120026/-blast-like-tumor-tissue-in-cervical-lymph-node-with-expression-of-placental-alkaline-phosphatase
#15
C Fellbaum, S Kircher, U Oehler, R Blessing, A Rosenwald
We report a case of ALK1-positive anaplastic large cell lymphoma with expression of placental alkaline phosphatase (PLAP) in many tumor cells. Initially, due to the positivity of tumor cells for CD30 and PLAP, lymph node metastasis of a germ cell neoplasm was discussed. Anaplastic large cell lymphomas of T‑cell lineage form a group of rare non-Hodgkin lymphomas with heterogeneous morphological and immunohistochemical appearance. They may imitate other neoplasms, such as large cell B‑cell lymphomas, metastasis of a carcinoma, melanoma, embryonal carcinoma or seminoma, rhabdomyosarcoma and inflammatory myofibroblastic tumor...
January 24, 2017: Der Pathologe
https://www.readbyqxmd.com/read/28116202/mixed-botryoid-and-spindle-cell-bladder-rhabdomyosarcoma-an-outstanding-pediatric-case
#16
Tommaso Alterio, Roberto Chimenz, Salvatore Arena, Giovanni Conti, Sabrina Cardile, Carmelo Romeo, Carmelo Salpietro, Carmelo Fede
We report a case of a 3-year-old North African child, initially assessed for nonspecific urinary symptoms such as haematuria and burning urination. The ultrasound evaluation showed a vegetating mass occupying the lumen with weak vascular signs at the Colour-Doppler evaluation. An explorative cystoscopy was performed and it revealed a nonbleeding lesion, white in colour, pedunculated, projecting into the lumen, and associated with a brown satellite formation. Histological examination showed a mixed Botryoid and Spindle Cell Rhabdomyosarcoma...
2017: Case Reports in Pediatrics
https://www.readbyqxmd.com/read/28109463/head-and-neck-sarcomas-a-single-institute-series
#17
Leandros-Vassilios Vassiliou, Bagrat Lalabekyan, Amrita Jay, Colin Liew, Jeremy Whelan, Laurence Newman, Nicholas Kalavrezos
BACKGROUND: Sarcomas are tumours of mesenchymal origin, accounting for 1% of all malignancies. METHODS: This is a retrospective analysis of 107 head and neck sarcoma cases, treated over a period of thirteen years. RESULTS: Fifty-four patients had with craniofacial bone sarcomas (BSs) (male: 33; female: 21) with high grade osteosarcoma being the most predominant type. The soft tissue sarcomas (STS) (53 patients; male: 28, female: 25) were histologically diverse with rhabdomyosarcomas and myxofibrosarcomas being the predominant types...
February 2017: Oral Oncology
https://www.readbyqxmd.com/read/28108880/unusual-signal-patterns-of-break-apart-fish-probes-used-in-the-diagnosis-of-soft-tissue-sarcomas
#18
Gergő Papp, Dóra Mihály, Zoltán Sápi
Break-apart FISH probes are the most popular and reliable type of FISH probes used to confirm certain pathological diagnoses. The interpretation is usually easy, however, in some instances it is not so unequivocal. Our aim was to reveal and elucidate the problems occurring in the process of evaluation of the break-apart probe results. Altogether 301 soft tissue sarcomas with confirmed molecular tests using break-apart probes were assessed to reveal the frequency and type of unusual signal pattern. Among 89 synovial sarcoma (SS18) 11%, 12 alveolar rhabdomyosarcoma (FOXO1) 50%, 53 myxoid liposarcoma (DDIT3) 7...
January 20, 2017: Pathology Oncology Research: POR
https://www.readbyqxmd.com/read/28104133/liver-transplantation-for-biliary-rhabdomyosarcoma-with-liver-metastasis-report-of-one-case
#19
C-H Shen, K-R Dong, Y-F Tao, G Chen, R-D Li, Q-B Zhang, X-F Zhang, S Zheng, Z-X Wang
BACKGROUND: Liver transplantation in combination with chemotherapy in postoperative biliary rhabdomyosarcoma recurrence of children was evaluated. METHODS: An 8-year-old girl with biliary rhabdomyosarcoma underwent pancreatico-duodenectomy with postoperative vincristine (VCR), adriamycin (Act-D), and cyclophosphamide (CTX) (VAC chemotherapy) (VCR, 1 mg; Act-D, 0.7 mg; CTX, 1500 mg). Two years later, liver metastasis in the left and right lobes was found and was followed by VAC chemotherapy (CTX, 1800 mg; Act-D, 0...
January 2017: Transplantation Proceedings
https://www.readbyqxmd.com/read/28103501/congenital-embryonal-rhabdomyosarcoma-multiple-lesions
#20
Heidarali Esmaeili, Mahzad Azimpouran
INTRODUCTION: Congenital or neonatal rhabdomyosarcoma (RMS) is a rare soft tissue tumor with the most common sites of origin in genitourinary tract, head, and neck regions and extremities are less commonly involved. PRESENTATION OF CASE: In this paper, a case of embryonal RMS with skin lesions, lymph nodes metastasis, and bone marrow metastasis is reported for a 1-month old female patient. DISCUSSION: This study presents how within 8-months of chemotherapy, the lesions got subsided and the patient became disease free...
January 5, 2017: International Journal of Surgery Case Reports
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