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PTCH1 Mutation in a Patient With Metastatic Undifferentiated Carcinoma With Clear Cell Change

Katy K. Tsai, Neharika Khurana, Timothy McCalmont, Adil Daud, Boris Bastian, and Iwei Yeh

Abstract

Clear cell basal cell carcinoma (BCC) is an unusual variant of BCC. Its pathogenesis, prognosis, and optimal management remain poorly described due to its rarity. This report presents a 51-year-old man with a history of excised BCC and cutaneous squamous cell carcinomas of the face, with multiple recurrent poorly differentiated carcinomas with clear cell changes of the shoulder for which further classification using conventional histologic means was not possible. His tumor tissue was sent to Foundation Medicine for testing, which revealed a high number of pathogenic genomic alterations, including a mutation in PTCH1. He was diagnosed with dedifferentiated BCC and started on vismodegib. He developed lung metastases while receiving vismodegib, and his disease continued to progress while he was undergoing treatment in a phase I clinical trial. Given the high number of pathogenic alterations suggestive of high tumor mutational burden, immunotherapy was considered and off-label authorization was obtained for treatment with a PD-1 antibody (pembrolizumab). He had a dramatic disease response after 4 infusions of pembrolizumab. Molecular testing was instrumental in determining the correct diagnosis and formulating appropriate treatment options for this patient. Molecular profiling of metastatic BCCs and its subtypes is essential to the development of effective targeted therapies and combination approaches.

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HSR23-110: Immune Checkpoint Inhibitor (ICI) Treatment After Progression on Anti–PD-1 Therapy in Advanced Melanoma: A Systematic Review of the Literature

Daniel Olson, Brian Gastman, Alicia Rowell, Madan Jagasia, Parameswaran Hari, Wen Shi, Kendall Stevinson, and Katy K. Tsai

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NCCN Guidelines® Insights: Melanoma: Cutaneous, Version 2.2024

Featured Updates to the NCCN Guidelines

Susan M. Swetter, Douglas Johnson, Mark R. Albertini, Christopher A. Barker, Sarah Bateni, Joel Baumgartner, Shailender Bhatia, Christopher Bichakjian, Genevieve Boland, Sunandana Chandra, Bartosz Chmielowski, Dominick DiMaio, Roxana Dronca, Ryan C. Fields, Martin D. Fleming, Anjela Galan, Samantha Guild, John Hyngstrom, Giorgos Karakousis, Kari Kendra, Maija Kiuru, Julie R. Lange, Ryan Lanning, Theodore Logan, Daniel Olson, Anthony J. Olszanski, Patrick A. Ott, Merrick I. Ross, Luke Rothermel, April K. Salama, Rohit Sharma, Joseph Skitzki, Emily Smith, Katy Tsai, Evan Wuthrick, Yan Xing, Nicole McMillian, and Sara Espinosa

The NCCN Guidelines for Cutaneous Melanoma (termed Melanoma: Cutaneous) provide multidisciplinary recommendations for diagnostic workup, staging, and treatment of patients. These NCCN Guidelines Insights focus on the update to neoadjuvant systemic therapy options and summarize the new clinical data evaluated by the NCCN panel for the recommended therapies in Version 2.2024 of the NCCN Guidelines for Cutaneous Melanoma.