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Germline BRCA2 variants in advanced pancreatic acinar cell carcinoma: A case report and review of literature.
Lee, Cha Len; Holter, Spring; Borgida, Ayelet; Dodd, Anna; Ramotar, Stephanie; Grant, Robert; Wasson, Kristy; Elimova, Elena; Jang, Raymond W; Moore, Malcolm; Kim, Tae Kyoung; Khalili, Korosh; Moulton, Carol-Anne; Gallinger, Steven; O'Kane, Grainne M; Knox, Jennifer J.
Afiliación
  • Lee CL; Division of Medical Oncology and Hematology, Wallace McCain Center for Pancreatic Cancer, Princess Margaret Cancer Centre, Toronto M5G1Z5, ON, Canada. chalen.lee@uhn.ca.
  • Holter S; Division of Medical Oncology and Hematology, Wallace McCain Center for Pancreatic Cancer, Princess Margaret Cancer Centre, Toronto M5G1Z5, ON, Canada.
  • Borgida A; Division of Medical Oncology and Hematology, Wallace McCain Center for Pancreatic Cancer, Princess Margaret Cancer Centre, Toronto M5G1Z5, ON, Canada.
  • Dodd A; Division of Medical Oncology and Hematology, Wallace McCain Center for Pancreatic Cancer, Princess Margaret Cancer Centre, Toronto M5G1Z5, ON, Canada.
  • Ramotar S; Division of Medical Oncology and Hematology, Wallace McCain Center for Pancreatic Cancer, Princess Margaret Cancer Centre, Toronto M5G1Z5, ON, Canada.
  • Grant R; Division of Medical Oncology and Hematology, Wallace McCain Center for Pancreatic Cancer, Princess Margaret Cancer Centre, Toronto M5G1Z5, ON, Canada.
  • Wasson K; Division of Medical Oncology and Hematology, Wallace McCain Center for Pancreatic Cancer, Princess Margaret Cancer Centre, Toronto M5G1Z5, ON, Canada.
  • Elimova E; Division of Medical Oncology and Hematology, Wallace McCain Center for Pancreatic Cancer, Princess Margaret Cancer Centre, Toronto M5G1Z5, ON, Canada.
  • Jang RW; Division of Medical Oncology and Hematology, Wallace McCain Center for Pancreatic Cancer, Princess Margaret Cancer Centre, Toronto M5G1Z5, ON, Canada.
  • Moore M; Division of Medical Oncology and Hematology, Wallace McCain Center for Pancreatic Cancer, Princess Margaret Cancer Centre, Toronto M5G1Z5, ON, Canada.
  • Kim TK; Department of Medical Imaging, Wallace McCain Center for Pancreatic Cancer, Princess Margaret Cancer Centre, Toronto M5G1Z5, ON, Canada.
  • Khalili K; Department of Medical Imaging, Wallace McCain Center for Pancreatic Cancer, Princess Margaret Cancer Centre, Toronto M5G1Z5, ON, Canada.
  • Moulton CA; Hepatobiliary/Pancreatic Surgical Program, Wallace McCain Center for Pancreatic Cancer, Princess Margaret Cancer Centre, Toronto M5G1Z5, ON, Canada.
  • Gallinger S; Hepatobiliary/Pancreatic Surgical Program, Wallace McCain Center for Pancreatic Cancer, Princess Margaret Cancer Centre, Toronto M5G1Z5, ON, Canada.
  • O'Kane GM; Division of Medical Oncology and Hematology, Wallace McCain Center for Pancreatic Cancer, Princess Margaret Cancer Centre, Toronto M5G1Z5, ON, Canada.
  • Knox JJ; Division of Medical Oncology and Hematology, Wallace McCain Center for Pancreatic Cancer, Princess Margaret Cancer Centre, Toronto M5G1Z5, ON, Canada.
World J Gastroenterol ; 28(45): 6421-6432, 2022 Dec 07.
Article en En | MEDLINE | ID: mdl-36533108
BACKGROUND: Pancreatic acinar cell carcinoma (PACC) is a rare tumor. Up to 45% of PACCs have alterations in the DNA damage repair pathway and 23% harbor rearrangements in the BRAF or RAF1 genes. We present a PACC case with a germline BRCA2 likely pathogenic variant (LPV) to highlight the impact of genomic testing on treatment decisions and patient outcomes. In our larger case series, we provide clinic-based information on additional 10 PACC patients treated in our center. CASE SUMMARY: A 70-year-old male was diagnosed with advanced PACC. At presentation, he was cachectic with severe arthralgia despite prednisolone and a skin rash that was later confirmed to be panniculitis. He was treated with modified FOLFIRINOX (mFFX) with the knowledge of the germline BRCA2 LPV. Following 11 cycles of mFFX, a computed tomography (CT) scan demonstrated significant tumor response in the pancreatic primary and hepatic metastases, totaling 70% from baseline as per Response Evaluation Criteria in Solid Tumors. Resolution of the skin panniculitis was also noted. We identified two additional PACCs with druggable targets in our case series. Our data contribute to practical evidence for the value of germline and somatic profiling in the management of rare diseases like PACC. CONCLUSION: This patient and others in our larger case series highlight the importance of genomic testing in PACC with potential utility in personalized treatment.
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Neoplasias Pancreáticas / Paniculitis / Carcinoma de Células Acinares Tipo de estudio: Etiology_studies / Prognostic_studies Límite: Aged / Humans / Male Idioma: En Revista: World J Gastroenterol Asunto de la revista: GASTROENTEROLOGIA Año: 2022 Tipo del documento: Article País de afiliación: Canadá Pais de publicación: Estados Unidos
Texto completo
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Neoplasias Pancreáticas / Paniculitis / Carcinoma de Células Acinares Tipo de estudio: Etiology_studies / Prognostic_studies Límite: Aged / Humans / Male Idioma: En Revista: World J Gastroenterol Asunto de la revista: GASTROENTEROLOGIA Año: 2022 Tipo del documento: Article País de afiliación: Canadá Pais de publicación: Estados Unidos