Search Results - "Debiec–Rychter, Maria"
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Primary myxoid mesenchymal tumour with intracranial location: report of a case with a EWSR1–ATF1 fusion
Published in Histopathology (01-04-2018)Get full text
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Comprehensive targeted next‐generation sequencing approach in the molecular diagnosis of gastrointestinal stromal tumor
Published in Genes chromosomes & cancer (01-04-2021)“…Mutational analysis guides therapeutic decision making in patients with advanced‐stage gastrointestinal stromal tumors (GISTs). We evaluated three targeted…”
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In-depth Genetic Analysis of Sclerosing Epithelioid Fibrosarcoma Reveals Recurrent Genomic Alterations and Potential Treatment Targets
Published in Clinical cancer research (01-12-2017)“…Sclerosing epithelioid fibrosarcoma (SEF) is a highly aggressive soft tissue sarcoma closely related to low-grade fibromyxoid sarcoma (LGFMS). Some tumors…”
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Myxoinflammatory fibroblastic sarcoma: an immunohistochemical and molecular genetic study of 73 cases
Published in Modern pathology (01-12-2020)“…Myxoinflammatory fibroblastic sarcoma (MIFS) is a rare, low-grade soft tissue neoplasm preferentially arising in the extremities of young to middle-aged adults…”
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5
Identification of a novel, recurrent MBTD1‐CXorf67 fusion in low‐grade endometrial stromal sarcoma
Published in International journal of cancer (01-03-2014)“…Endometrial stromal sarcomas (ESSs) are a genetically heterogeneous group of rare uterine neoplasms that are commonly driven by recurrent gene rearrangements…”
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Comprehensive genetic analysis identifies a pathognomonic NAB2/STAT6 fusion gene, nonrandom secondary genomic imbalances, and a characteristic gene expression profile in solitary fibrous tumor
Published in Genes chromosomes & cancer (01-10-2013)“…Solitary fibrous tumor (SFT) is a mesenchymal neoplasm displaying variable morphologic and clinical features. To identify pathogenetically important genetic…”
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Atypical neurofibromas in neurofibromatosis type 1 are premalignant tumors
Published in Genes chromosomes & cancer (01-12-2011)“…Benign peripheral nerve sheath tumors (PNSTs) are a characteristic feature of neurofibromatosis type I (NF1) patients. NF1 individuals have an 8–13% lifetime…”
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Combination Approach for Detecting Different Types of Alterations in Circulating Tumor DNA in Leiomyosarcoma
Published in Clinical cancer research (01-06-2018)“…The clinical utility of circulating tumor DNA (ctDNA) monitoring has been shown in tumors that harbor highly recurrent mutations. Leiomyosarcoma represents a…”
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A novel EWS‐CREB3L3 gene fusion in a mesenteric sclerosing epithelioid fibrosarcoma
Published in Genes chromosomes & cancer (01-09-2017)“…Sclerosing epithelioid fibrosarcoma (SEF) is a rare, malignant fibroblastic neoplasm, morphologically composed of cords, nests or sheets of monotonous…”
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Risk criteria and prognostic factors for predicting recurrences after resection of primary gastrointestinal stromal tumor
Published in Annals of surgical oncology (01-07-2007)“…The introduction of adjuvant imatinib in gastrointestinal stromal tumors (GISTs) raised debate over the accuracy of National Institutes of Health risk criteria…”
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Imatinib Mesylate in the Treatment of Diffuse Cutaneous Mastocytosis
Published in The Journal of pediatrics (2013)“…Diffuse cutaneous mastocytosis is a less common but potentially life-threatening variant of childhood mastocytosis. Here we report 2 children with diffuse…”
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Identification of CUX1 as the recurrent chromosomal band 7q22 target gene in human uterine leiomyoma
Published in Genes chromosomes & cancer (01-01-2013)“…Uterine leiomyomas are benign solid tumors of mesenchymal origin which occur with an estimated incidence of up to 77% of all women of reproductive age. The…”
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A rare case of atypical/anaplastic meningioma with MDM2 amplification
Published in Rare tumors (01-01-2018)“…We report the exceptional occurrence of murine double minute clone 2 amplification in an atypical meningioma and its recurrent anaplastic meningioma arising in…”
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Biallelic inactivation of NF1 in a sporadic plexiform neurofibroma
Published in Genes chromosomes & cancer (01-09-2012)“…Plexiform neurofibromas are a major cause of morbidity in individuals with neurofibromatosis type 1 (NF1). Sporadically, these tumors appear as an isolated…”
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Intestinal Neurofibromatosis Is a Subtype of Familial GIST and Results From a Dominant Activating Mutation in PDGFRA
Published in Gastroenterology (New York, N.Y. 1943) (01-12-2006)“…Background & Aims: Intestinal neurofibromatosis (Online Mendelian inheritance in Man database number 162220) is an alternate form of neurofibromatosis…”
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Molecular genetic characterization of the EWS/ATF1 fusion gene in clear cell sarcoma of tendons and aponeuroses
Published in International journal of cancer (01-06-2002)“…Clear cell sarcoma (CCS) is a rare malignant soft tissue tumor particularly associated with tendons and aponeuroses. The cytogenetic hallmark is the…”
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Toward Minimal Residual Disease-Directed Therapy in Melanoma
Published in Cell (09-08-2018)“…Many patients with advanced cancers achieve dramatic responses to a panoply of therapeutics yet retain minimal residual disease (MRD), which ultimately results…”
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ALK-ATIC fusion in urinary bladder inflammatory myofibroblastic tumor
Published in Genes chromosomes & cancer (01-10-2003)“…In this report, we describe an inflammatory myofibroblastic tumor (IMT) of the urinary bladder in a 46‐year‐old man. Tumor cells presented striking…”
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Prospectively Isolated NGN3‐Expressing Progenitors From Human Embryonic Stem Cells Give Rise to Pancreatic Endocrine Cells
Published in Stem cells translational medicine (01-04-2014)“…This study investigated whether it is possible to isolate pancreatic endocrine progenitors from differentiating human embryonic stem cell (hESC) cultures by…”
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Clinical management of uterine sarcomas
Published in The lancet oncology (01-12-2009)“…Summary Malignant pure mesenchymal uterine tumours encompass endometrial stromal sarcoma (ESS), uterine leiomyosarcoma, and undifferentiated sarcomas. This…”
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