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10.1186/s12885-017-3249-x

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suck abstract from ncbi


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pmid28390395      BMC+Cancer 2017 ; 17 (1): 250
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  • Myoepithelial carcinoma with RB1 mutation: remarkable chemosensitivity to carcinoma of unknown origin therapy #MMPMID28390395
  • Hoggard TM; Henderson-Jackson E; Bui MM; Caracciolo J; Teer JK; Yoder S; Binitie O; Gonzalez RJ; Brohl AS; Reed DR
  • BMC Cancer 2017[Apr]; 17 (1): 250 PMID28390395show ga
  • BACKGROUND: Myoepithelial carcinoma of soft tissue is a rare, malignant neoplasm that is morphologically and immunophenotypically similar to its counterpart in salivary gland. It demonstrates myoepithelial differentiation, possessing both epithelial and myogenic characteristics. Thought to be chemotherapy insensitive, the optimal treatment regimen of this tumor has yet to be established and only a select few cases in the literature discuss treatment efficacy in detail. CASE PRESENTATION: Here we present a case of a young adult with metastatic myoepithelial carcinoma with an initial excellent response to systemic therapy utilizing carboplatin and paclitaxel with continued complete response after 3 years. The patient also underwent complete surgical excision and received adjuvant radiation to the primary site of disease. Exome sequencing revealed an inactivating mutation in RB1 which we believe to be the first such mutation to be reported in this cancer type. CONCLUSIONS: Given increasing evidence suggesting RB1 loss is associated with responsiveness to conventional chemotherapies, particularly platinum-based regimens, we hypothesize that this genetic feature predisposed chemosensitivity in our patient's tumor.
  • |*Mutation[MESH]
  • |Adult[MESH]
  • |Antineoplastic Combined Chemotherapy Protocols/*therapeutic use[MESH]
  • |Carboplatin/therapeutic use[MESH]
  • |Humans[MESH]
  • |Male[MESH]
  • |Myoepithelioma/genetics/*therapy[MESH]
  • |Neoplasm Metastasis[MESH]
  • |Paclitaxel/therapeutic use[MESH]
  • |Radiotherapy, Adjuvant[MESH]
  • |Retinoblastoma Binding Proteins/*genetics[MESH]
  • |Treatment Outcome[MESH]


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