Pitfalls in the diagnosis of yolk sac tumor: Lessons from a clinical trial

Pediatr Blood Cancer. 2022 Feb;69(2):e29451. doi: 10.1002/pbc.29451. Epub 2021 Dec 5.

Abstract

Though outcomes for patients with recurrent/refractory malignant germ cell tumors (mGCTs) are poor, therapies targeting mTOR and EGFR inhibition have shown promise in vitro. We hypothesized that the combination of sirolimus and erlotinib will show activity in patients with recurrent/refractory mGCTs. Patients were enrolled in a prospective phase II clinical trial; central review of existing pathology specimens was performed. Of the five patients evaluated, two had their diagnoses revised to pancreatic acinar cell carcinoma and alpha-fetoprotein (AFP)-secreting gastric adenocarcinoma, respectively. Although mGCTs are common AFP-secreting neoplasms, recurrence or refractoriness to standard regimens should prompt histologic reevaluation for other diagnoses.

Keywords: alpha-fetoprotein-secreting gastric adenocarcinoma; malignant germ cell tumor; pancreatic acinar cell carcinoma; refractory; relapse; yolk sac tumor.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Clinical Trials, Phase II as Topic
  • Endodermal Sinus Tumor* / diagnosis
  • Endodermal Sinus Tumor* / drug therapy
  • Humans
  • Neoplasm Recurrence, Local
  • Neoplasms, Germ Cell and Embryonal*
  • Prospective Studies
  • alpha-Fetoproteins

Substances

  • alpha-Fetoproteins