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malignant rhabdoid tumor

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https://www.readbyqxmd.com/read/28631714/-extrarenal-rhabdoid-tumor-a-review-of-literature-and-a-report-of-cases-with-atypical-morphology
#1
A M Mitrofanova, V Yu Roshchin, A N Kislyakov, D S Abramov, D V Rogozhin, D M Konovalov
Extrarenal extracranial rhabdoid tumor (EERT) is a rare malignant pediatric tumor characterized by extremely aggressive behavior, rapid metastatic spread, low survival rates, and no targeted therapy. The morphological diagnosis of classical cases of EERT is not difficult and it is based on its characteristic histologic pattern and immunohistochemical findings in a relatively short time, which allows one to immediately initiate therapy. The paper describes two cases of ERRT in the complete absence of classical rhabdoid morphology, as revealed by light microscopy when the material was primarily assessed...
2017: Arkhiv Patologii
https://www.readbyqxmd.com/read/28620006/cancer-surveillance-in-gorlin-syndrome-and-rhabdoid-tumor-predisposition-syndrome
#2
REVIEW
William D Foulkes, Junne Kamihara, D Gareth R Evans, Laurence Brugières, Franck Bourdeaut, Jan J Molenaar, Michael F Walsh, Garrett M Brodeur, Lisa Diller
Gorlin syndrome and rhabdoid tumor predisposition syndrome (RTPS) are autosomal dominant syndromes associated with an increased risk of childhood-onset brain tumors. Individuals with Gorlin syndrome can manifest a wide range of phenotypic abnormalities, with about 5% of family members developing medulloblastoma, usually occurring in the first 3 years of life. Gorlin syndrome is associated with germline mutations in components of the Sonic Hedgehog pathway, including Patched1 (PTCH1) and Suppressor of fused (SUFU)SUFU mutation carriers appear to have an especially high risk of early-onset medulloblastoma...
June 15, 2017: Clinical Cancer Research: An Official Journal of the American Association for Cancer Research
https://www.readbyqxmd.com/read/28616426/cytologic-diagnosis-of-atypical-teratoid-rhabdoid-tumor-based-on-touch-imprint-study-report-of-a-case-with-review-of-literature
#3
Mansoureh Shokripour, Negar Azarpira, Navid Omidifar, Bita Pakniat
Atypical teratoid rhabdoid tumor (ATRT) is a rare malignant tumor with gloom destiny. Our case was a 4-year-old boy with a temporal lobe tumor that was then became evident of ATRT with recurrent happening. In a retrospective review of all cytologic slides, we found unique rhabdoid cells that are morphologically evident cells for ATRT in both times. Unfortunately, the cells were overlooked at the first time. We conclude if the pathologist is experienced to see rhabdoid cells noticing these cells is highly helpful for diagnosis ATRT, especially in frozen sectioning...
2017: Journal of Education and Health Promotion
https://www.readbyqxmd.com/read/28598565/atypical-teratoid-rhabdoid-tumors-in-children-treated-with-multimodal-therapies-the-necessity-of-upfront-radiotherapy-after-surgery
#4
Jeongshim Lee, Dong-Seok Kim, Jung Woo Han, Chang-Ok Suh
BACKGROUND: Atypical teratoid/rhabdoid tumor (ATRT) is a rare malignant pediatric brain tumor with a dismal prognosis. We evaluated the efficacy of multimodal therapy in children with ATRT. PROCEDURE: Nine children diagnosed with cranial ATRT, who received multimodal therapy between 2005 and 2014, including surgical resection followed by radiotherapy (RT), systemic chemotherapy (CT), and high-dose chemotherapy/stem cell transplantation (HDCT/SCT), were analyzed retrospectively...
June 9, 2017: Pediatric Blood & Cancer
https://www.readbyqxmd.com/read/28550054/pgbd5-is-a-dna-transposase-sufficient-for-malignant-transformation
#5
(no author information available yet)
PGBD5 binds to PSS sequences to promote somatic genomic rearrangements in rhabdoid tumor cells.
May 26, 2017: Cancer Discovery
https://www.readbyqxmd.com/read/28541826/ini-expressing-epithelioid-sarcoma-with-osteoclastic-giant-cells-in-a-child-a-case-report-with-summary-of-prior-published-cases
#6
Riju Bhattacharyya, Ranajoy Ghosh, Koushik Saha, Uttara Chatterjee
BACKGROUND: Epithelioid sarcoma is a heterogeneous tumor with 2 subtypes, classic and proximal. The proximal variant is more aggressive and occurs in proximal location in young adults. CASE REPORT: We present a proximal epithelioid sarcoma in the leg of an 8 year old girl with rhabdoid morphology and scattered osteoclastic giant cells. Nuclear INI-1 was retained. Despite wide local excision, local recurrence occurred at 8 months. Following re-excision, she developed a chest wall metastasis after 9 months...
May 25, 2017: Fetal and Pediatric Pathology
https://www.readbyqxmd.com/read/28521298/insulin-like-growth-factor-2-axis-supports-the-serum-independent-growth-of-malignant-rhabdoid-tumor-and-is-activated-by-microenvironment-stress
#7
Ting Li, Jin Wang, Pengfei Liu, Jiadong Chi, Han Yan, Lei Lei, Zexing Li, Bing Yang, Xi Wang
Malignant rhabdoid tumors (MRTs) are rare, lethal, pediatric tumors predominantly found in the kidney, brain and soft tissues. MRTs are driven by loss of tumor suppressor SNF5/INI1/SMARCB1/BAF47. The prognosis of MRT is poor using currently available treatments, so new treatment targets need to be identified to expand treatment options for patients experiencing chemotherapy resistance. The growth hormone insulin-like growth factor 2 (IGF2) signaling pathway is a promising target to overcome drug resistance in many cancers...
May 4, 2017: Oncotarget
https://www.readbyqxmd.com/read/28503314/atypical-teratoid-rhabdoid-tumor-of-lumbar-spine-in-a-toddler-child
#8
Min Fang Chao, Yu-Feng Su, Twei-Shiun Jaw, Shyh-Shin Chiou, Chih-Hung Lin
BACKGROUND: Atypical teratoid/rhabdoid tumor (AT/RT) is a rare pediatric central nervous system malignancy with poor outcome. AT/RT is infrequently located in the spinal cord. CLINICAL PRESENTATION: A 16-month-old boy presented with progressive urinary retention and weakness of the lower extremities. Magnetic resonance imaging of the spine revealed an intradural extramedullary mass occupying the spinal canal at the level of T10-L3. The tumor was successfully resected by using neuroendoscopy...
2017: Spinal Cord Series and Cases
https://www.readbyqxmd.com/read/28498283/synovial-sarcoma-of-peripheral-nerves-analysis-of-15-cases
#9
John S A Chrisinger, Usama I Salem, Lars-Gunnar Kindblom, Behrang Amini, Magnus Hansson, Jeanne M Meis
Synovial sarcoma of peripheral nerve (SSPN) is rare with only 26 cases reported in English. SSPN is often mistaken for a benign or malignant peripheral nerve sheath tumor (PNST) by clinicians and pathologists. Fifteen cases of SSPN were retrieved from the pathology files of 3 institutions. All tumors arose in a nerve based on imaging and/or operative findings and the diagnoses were histologically confirmed. Neuropathic symptoms predominated in 11 women and 4 men, 19- to 62-year-old (median, 39 years) with tumors involving the ulnar (5), median (3), peroneal (3) or sciatic (2) nerve, or the L4 or T1 nerve root (2)...
May 11, 2017: American Journal of Surgical Pathology
https://www.readbyqxmd.com/read/28482042/bap1-mutations-in-high-grade-meningioma-implications-for-patient-care
#10
Ganesh M Shankar, Sandro Santagata
We have recently shown that the BAP1 (BRCA1-associated protein-1) tumor suppressor gene is inactivated in a subset of clinically-aggressive meningiomas that display rhabdoid histomorphology. Immunohistochemistry for BAP1 protein provides a rapid and inexpensive method for screening suspected cases. Notably, some patients with BAP1-mutant meningiomas have germline BAP1 mutations and the BAP1 tumor predisposition syndrome (BAP1-TPDS). It appears that nearly all patients with germline BAP1 mutations develop malignancies by age 55, most frequently uveal melanoma, cutaneous melanoma, pleural or peritoneal malignant mesothelioma or renal cell carcinoma, although other cancers have also been associated with the BAP1-TPDS...
May 8, 2017: Neuro-oncology
https://www.readbyqxmd.com/read/28469334/clinical-profile-of-pediatric-oncology-patients-treated-by-external-beam-radiotherapy-an-institutional-experience
#11
Virender Suhag, B S Sunita, Pankaj Vats, Arti Sarin, A K Singh, Mayuri Jain
INTRODUCTION: Pediatric tumors are a heterogeneous group of malignant conditions requiring multimodal treatment, and management of such cases is at time challenging. We present the clinical profile of pediatric cancer patients who received radiation, either alone or as adjuvant to surgery and chemotherapy; in prophylactic, radical or palliative clinical setting. AIM: This study was envisaged to review our experience of pediatric oncology cases, their clinical and morphological profile, dosage schedule of radiotherapy, and the therapy induced complications...
January 2017: Indian Journal of Medical and Paediatric Oncology
https://www.readbyqxmd.com/read/28452074/clinicopathologic-features-and-immunohistochemical-spectrum-of-11-cases-of-epithelioid-malignant-peripheral-nerve-sheath-tumors-including-ini1-smarcb1-results-and-braf-v600e-analysis
#12
Bharat Rekhi, Kemal Kosemehmetoglu, Gaye Guler Tezel, Sergulen Dervisoglu
Epithelioid malignant peripheral nerve sheath tumor (MPNST) is a rare, relatively less chemosensitive sarcoma. We report clinicopathologic features of 11 epithelioid MPNSTs, including rare forms, along with INI1 immunostaining and BRAF V600E mutation results. BRAF V600E mutation was tested by Real-time polymerase chain reaction (PCR) technique. Eleven tumors occurred in six men and five women (M:F ratio = 0.85:1) within an age range of 5-73 years (average = 44), mostly in lower limbs (five), followed by upper limbs (four)...
April 27, 2017: APMIS: Acta Pathologica, Microbiologica, et Immunologica Scandinavica
https://www.readbyqxmd.com/read/28434767/extrarenal-rhabdoid-tumor-presented-with-an-immobile-arm-in-a-one-year-old-boy
#13
Chi-Ting Chung, Yen-Lin Liu, Chien-Jui Cheng, Kevin Li-Chun Hsieh, Min-Lan Tsai, Tai-Tong Wong
Infants with an immobile arm may be easily overlooked in primary care settings. Differential diagnoses include injuries, infections, neuropathies, ischemia and rarely, neoplasms. We report the case of a one-year-old boy with weakness in his left arm after minor trauma with a diagnosis of brachial plexus palsy initially. After rehabilitation for 2months, his weakness progressed to unsteady gait and quadriparesis. MRI revealed a huge solid tumor in the left supraclavicular fossa, which also involved the left brachial plexus, upper thoracic cavity, and left paravertebral space with invasion into the spinal canal...
April 20, 2017: Brain & Development
https://www.readbyqxmd.com/read/28432176/a-phase-i-study-of-the-cdk4-6-inhibitor-ribociclib-lee011-in-pediatric-patients-with-malignant-rhabdoid-tumors-neuroblastoma-and-other-solid-tumors
#14
Birgit Geoerger, Franck Bourdeaut, Steven G DuBois, Matthias Fischer, James I Geller, Nicholas G Gottardo, Aurélien Marabelle, Andrew D J Pearson, Shakeel Modak, Thomas Cash, Giles W Robinson, Marlyane Motta, Alessandro Matano, Suraj G Bhansali, Jason R Dobson, Sudha Parasuraman, Susan N Chi
Purpose: The cyclin-dependent kinase (CDK) 4/6 inhibitor, ribociclib (LEE011), displayed preclinical activity in neuroblastoma and malignant rhabdoid tumor (MRT) models. In this phase I study, the maximum tolerated dose (MTD) and recommended phase II dose (RP2D), safety, pharmacokinetics (PK), and preliminary activity of single-agent ribociclib were investigated in pediatric patients with neuroblastoma, MRT, or other cyclin D-CDK4/6-INK4-retinoblastoma pathway-altered tumors.Experimental Design: Patients (aged 1-21 years) received escalating once-daily oral doses of ribociclib (3-weeks-on/1-week-off)...
April 21, 2017: Clinical Cancer Research: An Official Journal of the American Association for Cancer Research
https://www.readbyqxmd.com/read/28431412/cutaneous-malignant-melanoma-with-rhabdoid-morphology-and-smooth-muscle-differentiation-a-challenging-histopathologic-diagnosis
#15
Lucía Prieto-Torres, Victoria Alegría-Landa, Concepción Llanos, Alicia Córdoba, Heinz Kutzner, Luis Requena
Divergent differentiation or metaplastic change is a rare feature exhibited occasionally in malignant melanoma (MM), which is characterized by the development of morphologically, immunochemically, and/or ultrastructurally nonmelanocytic cells within the tumor. Smooth muscle differentiation in MM is an exceedingly rare phenomenon reported only in a few cases in the literature. We report the case of a 69-year-old woman who presented with a pure dermal amelanotic MM with smooth muscle cell differentiation and an area of rhabdoid morphology, which made the accurate histopathologic diagnostic of MM challenging...
May 2017: American Journal of Dermatopathology
https://www.readbyqxmd.com/read/28429647/malignant-rhabdoid-tumor-of-soft-tissue
#16
Julie Guilmette, Caroline Laverdière, Denis Soulières, Natasha Patey, Geneviève Soucy, Dominique Trudel, Dorothée Bouron-Dal Soglio
Introduction Malignant rhabdoid tumor (MRT) is defined as a high-grade sarcoma derived from an uncertain cell of origin. Its diagnosis is associated with poor prognosis and patient's life expectancy is greatly reduced. Material and method Here, we describe a unique case of 9-month-old boy who presented with a large MRT arising from the soft tissue of the neck. Following intensive multimodal treatment, the patient benefited from a 25 years' remission until the discovery of multiple liver metastases. Conclusion MRT of soft tissue needs to be distinguished from other soft tissue neoplasms, as MRT is highly aggressive and is usually associated with a poor outcome...
January 1, 2017: Pediatric and Developmental Pathology
https://www.readbyqxmd.com/read/28427232/embryonic-signature-distinguishes-pediatric-and-adult-rhabdoid-tumors-from-other-smarcb1-deficient-cancers
#17
Wilfrid Richer, Julien Masliah-Planchon, Nathalie Clement, Irene Jimenez, Laetitia Maillot, David Gentien, Benoît Albaud, Walid Chemlali, Christine Galant, Frederique Larousserie, Pascaline Boudou-Rouquette, Amaury Leruste, Celine Chauvin, Zhi Yan Han, Jean-Michel Coindre, Pascale Varlet, Paul Freneaux, Dominique Ranchère-Vince, Olivier Delattre, Franck Bourdeaut
Extra-cranial rhabdoid tumors (RT) are highly aggressive malignancies of infancy, characterized by undifferentiated histological features and loss of SMARCB1 expression. The diagnosis is all the more challenging that other poorly differentiated cancers lose SMARCB1 expression, such as epithelioid sarcomas (ES), renal medullary carcinomas (RMC) or undifferentiated chordomas (UC). Moreover, late cases occurring in adults are now increasingly reported, raising the question of differential diagnoses and emphasizing nosological issues...
May 23, 2017: Oncotarget
https://www.readbyqxmd.com/read/28426098/targeting-chromatin-defects-in-selected-solid-tumors-based-on-oncogene-addiction-synthetic-lethality-and-epigenetic-antagonism
#18
D Morel, G Almouzni, J-C Soria, S Postel-Vinay
Background: Although the role of epigenetic abnormalities has been studied for several years in cancer genesis and development, epigenetic-targeting drugs have historically failed to demonstrate efficacy in solid malignancies. However, successful targeting of chromatin remodeling deficiencies, histone writers and histone reader alterations has been achieved very recently using biomarker-driven and mechanism-based approaches. Epigenetic targeting is now one of the most active areas in drug development and could represent novel therapeutic opportunity for up to 25% of all solid tumors...
February 1, 2017: Annals of Oncology: Official Journal of the European Society for Medical Oncology
https://www.readbyqxmd.com/read/28413869/salivary-duct-carcinoma-with-invasive-micropapillary-and-rhabdoid-feature-arising-in-the-submandibular-gland
#19
Mitsunobu Otsuru, Takayuki Aoki, Yusuke Kondo, Yoshihide Ota, Masashi Sasaki, Takatugu Suzuki, Go Ogura, Nobue Kumaki
Salivary duct carcinoma (SDC) is a high-grade malignant salivary gland tumor associated with poor prognosis, frequent recurrence, and metastasis. An 82-year-old man presented at the department of oral and maxillofacial surgery at Tokai University Hospital with a painless swelling in the right submandibular region that had been there for 20 years. On presentation, an elastic hard tumor, 50 × 50 mm in size, was observed in the submandibular region. Diagnostic imaging was performed, and a malignant tumor in the submandibular gland was suspected...
April 20, 2017: Tokai Journal of Experimental and Clinical Medicine
https://www.readbyqxmd.com/read/28409885/long-term-results-of-the-transmanubrial-osteomuscular-sparing-approach-for-pediatric-tumors
#20
Aziz El Madi, Sabine Irtan, Frédérique Sauvat, Michel Zérah, Gudrun Schleiermacher, Louise Galmiche-Roland, Véronique Minard-Colin, Hervé Brisse, Sabine Sarnacki
BACKGROUND: The complete and safe resection of pediatric cervicothoracic tumors, mostly represented by neurogenic tumors, remains a surgical challenge because of the complex anatomy of this region. The transmanubrial osteomuscular-sparing approach (TOSA) is an alternative to isolated or combined cervical and thoracic approaches enabling the control of supra-aortic vessels and nerves through the thoracic inlet. METHODS: We retrospectively reviewed the tumor characteristics, completeness of resection, morbidity, and long-term outcome of patients with cervicothoracic tumors removed by TOSA between 2000 and 2012 in our institution...
April 14, 2017: Pediatric Blood & Cancer
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