Acquired isochromosome 12p, somatic TP53 and PTEN mutations, and a germline ATM variant in an adolescent male with concurrent acute megakaryoblastic leukemia and mediastinal germ cell tumor

Benjamin R. Oshrine, Molly N. Olsen, Mallorie Heneghan, Gerald Wertheim, Robert Daber, Donna M. Wilmoth, Jaclyn A. Biegel, Bruce Pawel, Richard Aplenc, Rebecca King

Research output: Contribution to journalArticle

7 Scopus citations


Previous reports have described an association between hematologic malignancies (HMs) and extragonadal germ cell tumor (GCT). Most patients have been adolescent males with mediastinal nonseminomatous GCT. Although a variety of HMs have been reported, there is a striking predilection toward acute megakaryoblastic leukemia (AMKL). Shared cytogenetic anomalies-particularly isochromosome 12p [i(12p)]-have suggested common clonal origins to the tumors. We report the case of a 17-year-old boy presenting with AMKL and a synchronous mediastinal GCT, with the characteristic i(12p) in both neoplasms. The common clonal origin of the AMKL and GCT was further confirmed with massively parallel sequencing, which identified somatic TP53 and PTEN mutations, as well as a rare germline ATM variant. Although these represent commonly mutated genes in cancer, this combination of mutations is not typically associated with either GCT or AMKL, suggesting that these tumors may represent unique biologic entities when they co-occur.

Original languageEnglish (US)
Pages (from-to)153-159
Number of pages7
JournalCancer Genetics
Issue number4
StatePublished - Jan 1 2014
Externally publishedYes



  • Acute megakaryoblastic leukemia
  • ATM
  • Germ cell tumor
  • Isochromosome 12p
  • PTEN
  • TP53

ASJC Scopus subject areas

  • Molecular Biology
  • Genetics
  • Cancer Research

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