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Ref Type | Journal Article | ||||||||||||
PMID | (38899982) | ||||||||||||
Authors | Trinh JQ, Banskota SU, Marr AS | ||||||||||||
Title | A Rare Case of Metastatic Spiradenocarcinoma With CDKN2A Mutation. | ||||||||||||
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Abstract Text | Spiradenocarcinomas are rare malignant skin adnexal tumors. We describe a novel case of a patient with an aggressive CDKN2A-mutated spiradenocarcinoma who responded to a CDK4/6 inhibitor. This case highlights the unique nature of spiradenocarcinomas as well as the potential benefit of targeted therapy. |
Molecular Profile | Treatment Approach |
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Therapy Name | Drugs | Efficacy Evidence | Clinical Trials |
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Gene | Variant | Impact | Protein Effect | Variant Description | Associated with drug Resistance |
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Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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CDKN2A inact mut | malignant spiradenoma | predicted - sensitive | Palbociclib | Case Reports/Case Series | Actionable | In a Phase II trial (TAPUR), Ibrance (palbociclib) treatment resulted in decreased size of the pulmonary nodules and right hilar mass, decreased pleural thickening and mediastinal lymphadenopathy, and an overall response in a patient with metastatic spiradenocarcinoma harboring a CDKN2A nonsense mutation (PMID: 38899982; NCT02693535). | 38899982 |