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A case of metastatic adenocarcinoma of unknown primary in a pediatric patient: opportunities for precision medicine
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  • John Prensner,
  • Juan Putra,
  • Sara Vargas,
  • Alanna Church,
  • Katherine Janeway,
  • Nadine McCleary,
  • Steven DuBois
John Prensner
Dana-Farber/Boston Children's Cancer and Blood Disorders Center
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Juan Putra
Boston Children's Hospital
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Sara Vargas
Boston Children's Hospital
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Alanna Church
Boston Children's Hospital
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Katherine Janeway
Dana-Farber/Boston Children's Cancer and Blood Disorders Center
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Nadine McCleary
Dana-Farber Cancer Institute
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Steven DuBois
Dana-Farber/Boston Children's Cancer and Blood Disorders Center
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Abstract

Cancer of unknown primary (CUP) is a common diagnosis in adult oncology, but is extremely rare in pediatrics, with few published reports and none in the era of molecular profiling. Here, we describe a 13-year old boy with metastatic adenocarcinoma of unknown primary that was refractory to conventional chemotherapy. Molecular profiling revealed an activating ERBB2 D769Y variant. He subsequently achieved disease control on a lapatinib-containing regimen, and upon progression, he transiently responded to neratinib prior to dying from disease. Our case reports a rare example of pediatric CUP and highlights the utility of molecular profiling in these cases.