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Hybrid Capture-Based Tumor Sequencing and Copy Number Analysis to Confirm Origin of Metachronous Metastases in BRCA1-Mutant Cholangiocarcinoma Harboring a Novel YWHAZ-BRAF Fusion.
Lim, Huat C; Montesion, Meagan; Botton, Thomas; Collisson, Eric A; Umetsu, Sarah E; Behr, Spencer C; Gordan, John D; Stephens, Phil J; Kelley, Robin K.
Afiliación
  • Lim HC; Department of Medicine, University of California, San Francisco, San Francisco, California, USA.
  • Montesion M; GRAIL, Menlo Park, California, USA.
  • Botton T; Department of Dermatology, University of California, San Francisco, San Francisco, California, USA.
  • Collisson EA; Department of Pathology, University of California, San Francisco, San Francisco, California, USA.
  • Umetsu SE; Helen Diller Family Comprehensive Cancer Center, University of California, San Francisco, San Francisco, California, USA.
  • Behr SC; Department of Medicine, University of California, San Francisco, San Francisco, California, USA.
  • Gordan JD; Helen Diller Family Comprehensive Cancer Center, University of California, San Francisco, San Francisco, California, USA.
  • Stephens PJ; Department of Pathology, University of California, San Francisco, San Francisco, California, USA.
  • Kelley RK; Department of Radiology, University of California, San Francisco, San Francisco, California, USA.
Oncologist ; 23(9): 998-1003, 2018 09.
Article en En | MEDLINE | ID: mdl-29622700
Biliary tract cancers such as cholangiocarcinoma represent a heterogeneous group of cancers that can be difficult to diagnose. Recent comprehensive genomic analyses in large cholangiocarcinoma cohorts have defined important molecular subgroups within cholangiocarcinoma that may relate to anatomic location and etiology [1], [2], [3], [4] and may predict responsiveness to targeted therapies in development [5], [6], [7]. These emerging data highlight the potential for tumor genomics to inform diagnosis and treatment options in this challenging tumor type. We report the case of a patient with a germline BRCA1 mutation who presented with a cholangiocarcinoma driven by the novel YWHAZ-BRAF fusion. Hybrid capture-based DNA sequencing and copy number analysis performed as part of clinical care demonstrated that two later-occurring tumors were clonally derived from the primary cholangiocarcinoma rather than distinct new primaries, revealing an unusual pattern of late metachronous metastasis. We discuss the clinical significance of these genetic alterations and their relevance to therapeutic strategies. KEY POINTS: Hybrid capture-based next-generation DNA sequencing assays can provide diagnostic clarity in patients with unusual patterns of metastasis and recurrence in which the pathologic diagnosis is ambiguous.To our knowledge, this is the first reported case of a YWHAZ-BRAF fusion in pancreaticobiliary cancer, and a very rare case of cholangiocarcinoma in the setting of a germline BRCA1 mutation.The patient's BRCA1 mutation and YWHAZ-BRAF fusion constitute potential targets for future therapy.
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Colangiocarcinoma / Proteína BRCA1 / Proteínas Proto-Oncogénicas B-raf / Variaciones en el Número de Copia de ADN Límite: Humans Idioma: En Revista: Oncologist Asunto de la revista: NEOPLASIAS Año: 2018 Tipo del documento: Article País de afiliación: Estados Unidos Pais de publicación: Reino Unido
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Colangiocarcinoma / Proteína BRCA1 / Proteínas Proto-Oncogénicas B-raf / Variaciones en el Número de Copia de ADN Límite: Humans Idioma: En Revista: Oncologist Asunto de la revista: NEOPLASIAS Año: 2018 Tipo del documento: Article País de afiliación: Estados Unidos Pais de publicación: Reino Unido