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PMID | (37900840) | ||||||||||||
Authors | Badran A, Steele C, Alquaydheb H, Ba Theeb A, Bawazir A, Elshenawy MA, Atallah JP | ||||||||||||
Title | The Use of Crizotinib in Sclerosing Epithelioid Fibrosarcoma with ALK Mutation: A Case Report. | ||||||||||||
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Abstract Text | Sclerosing epithelioid fibrosarcoma is an ultra-rare and aggressive high-grade fibrosarcoma that was originally described in 1995. More than 100 cases are documented worldwide, with the most extensive case series reporting a high rate of recurrence and metastasis. ALK mutations are commonly seen in soft-tissue sarcomas; however, this is the first known case of an ALK V757M mutation. Here, we present a case using crizotinib in treating an ALK-positive sclerosing epithelioid fibrosarcoma refractory to all traditional treatment options. |
Molecular Profile | Treatment Approach |
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Gene Name | Source | Synonyms | Protein Domains | Gene Description | Gene Role |
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Therapy Name | Drugs | Efficacy Evidence | Clinical Trials |
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Drug Name | Trade Name | Synonyms | Drug Classes | Drug Description |
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Gene | Variant | Impact | Protein Effect | Variant Description | Associated with drug Resistance |
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ALK | V757M | missense | unknown | ALK V757M lies within the extracellular domain of the Alk protein (UniProt.org). V757M has been identified in the scientific literature (PMID: 37900840, PMID: 26933125, PMID: 24710307), but has not been biochemically characterized and therefore, its effect on Alk protein function is unknown (PubMed, Aug 2024). |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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ALK V757M | fibrosarcoma | predicted - sensitive | Crizotinib | Case Reports/Case Series | Actionable | In a clinical case study, Xalkori (crizotinib) treatment resulted in significant tumor reduction in a patient with metastatic sclerosing epithelioid fibrosarcoma harboring ALK V757M (PMID: 37900840). | 37900840 |