Syndrome‐associated soft tissue tumours

Coffin, Cheryl M.; Davis, Jessica L.; Borinstein, Scott C.

doi:10.1111/his.12280

Cited by 31 publications

(21 citation statements)

References 178 publications

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“…Although most cases of ERMS arise as sporadic tumours, ERMS is also known to associate with a number of familial syndromes driven by germ-line mutations in oncogenesis-related signal transduction pathways 52–55 . Consistent with this notion, ERMS tumorigenesis in mouse models has been more varied, arguing that multiple pathways are capable of driving ERMS.…”

Section: Insights From Erms Animal Modelsmentioning

confidence: 99%

Probing for a deeper understanding of rhabdomyosarcoma: insights from complementary model systems

2015

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Rhabdomyosarcoma (RMS) is a mesenchymal malignancy composed of neoplastic primitive precursor cells that exhibit histological features of myogenic differentiation. Despite intensive conventional multimodal therapy, patients with high-risk RMS typically suffer from aggressive disease. The lack of directed therapies against RMS emphasizes the need to further uncover the molecular underpinnings of the disease. In this Review, we discuss the notable advances in the model systems now available to probe for new RMS-targetable pathogenetic mechanisms, and the possibilities for enhanced RMS therapeutics and improved clinical outcomes.

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Section: Insights From Erms Animal Modelsmentioning

confidence: 99%

Probing for a deeper understanding of rhabdomyosarcoma: insights from complementary model systems

2015

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“…up to 10% are associated with NF Type 2 (NF2). 5 Rarely, patients may present with schwannomatosis, a largely sporadic disorder that is predisposed to nonvestibular nonintradermal schwannomas. 21 Surgical excision remains the primary treatment modality for BPNSTs.…”

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confidence: 99%

Management of peripheral nerve sheath tumors: 17 years of experience at Toronto Western Hospital

Guha

Davidson

Nadi

et al. 2018

Journal of Neurosurgery

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OBJECTIVE A surgical series of 201 benign and malignant peripheral nerve sheath tumors (PNSTs) was assessed to characterize the anatomical and clinical presentation of tumors and identify predictors of neurological outcome, recurrence, and extent of resection. METHODS All surgically treated PNSTs from the Division of Neurosurgery at Toronto Western Hospital from 1993 to 2010 were reviewed retrospectively. Data were collected on patient demographics, clinical presentation, surgical technique, extent of resection, postoperative neurological outcomes, and recurrence. RESULTS One hundred seventy-five patients with 201 tumors had adequate follow-up for analysis. There were 182 benign and 19 malignant PNSTs. Of the benign lesions, 133 were schwannomas, 21 of which were associated with a diagnosis of schwannomatosis. There were 49 neurofibromas, and 26 were associated with neurofibromatosis Type 1 (NF1). Patients presenting with schwannomas were significantly older than those with neurofibromas. Schwannomas were more readily resected than neurofibromas, with the extent of resection of the former influenced by tumor location. Patients with benign PNSTs typically presented with a painful mass and less frequently with motor deficits. The likelihood of worsened postoperative motor function was decreased in patients with fully resected tumors or preoperative deficits. Recurrence of schwannomas and neurofibromas were seen more frequently in patients diagnosed with NF3 and NF1, respectively. Subtotal resection was associated with the increased recurrence of all benign lesions. CONCLUSIONS Outcomes following resection of benign PNSTs depend on tumor histopathology, tumor location, and genetic predisposition syndrome. Gross-total resection should be attempted for benign lesions where possible. The management of malignant PNSTs remains challenging, requiring a multimodal approach.

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“…A small proportion of ERMS and ARMS accompany other genetic neoplastic diseases -among others Beckwith-Wiedemann syndrome, Werner's syndrome, and Noonan's syndrome [6,62].…”

Section: Rhabdomyosarcomamentioning

confidence: 99%

Molecular biology of sarcoma

et al. 2019

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Soft tissue sarcomas are a large group of heterogenous neoplasms, many of them are highly aggressive. Most of the cases are sporadic, without any well-defined pathogenetic factor. Potential risk factors are ionizing radiation, lymphatic oedema (secondary angiosarcoma of the breast), viral infections (HHV8 and Kaposi sarcoma), exposure to chemical factors (vinyl chloride and hepatic angiosarcoma). Genetic susceptibility plays a role in a minority of cases. However, mutations in TP53, ATM and ATR genes are associated with enhanced susceptibility to radiation. Li-Fraumeni syndrome (autosomal dominant TP53 mutation) predisposes to development of malignancies, one third of them are sarcomas. Genetic alterations observed in sarcomas could be divided into three major groups characterized by: (1) chromosome translocations; (2) simple karyotype and mutations; (3) variably complex karyotypes. A large part of sarcomas belong to the first group and the specific chromosal translocations could be utilized in the diagnostic process. A smaller number of sarcomas could be assigned to the second group, e.g. desmoid fibromatosis (CTNNB1 or APC mutations) and GIST (KIT, PDGFRA, or less frequently BRAF, SDH, NF1). A large number of sarcomas are characterized by complex and variable karyotypes. Gene copy number alterations are frequent in this group, e.g. in well-differentiated liposarcoma there is an amplification of MDM2, CDK4 and HMGA2 genes or sarcoma-specific chromosomal break regions present in the CHOP gene in myxoid liposarcoma and FKHR in alveolar rhabdomyosarcoma.

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Syndrome‐associated soft tissue tumours

Cited by 31 publications

References 178 publications

Probing for a deeper understanding of rhabdomyosarcoma: insights from complementary model systems

Probing for a deeper understanding of rhabdomyosarcoma: insights from complementary model systems

Management of peripheral nerve sheath tumors: 17 years of experience at Toronto Western Hospital

Molecular biology of sarcoma

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