Interphase chromosome painting of paraffin-embedded tissue in the differential diagnosis of possible germ cell tumors

Ruthann I. Blough, Nyla A. Heerema, Thomas M. Ulbright, Teresa A. Smolarek, Lawrence M. Roth, Lawrence H. Einhorn

Research output: Contribution to journalArticle

9 Scopus citations


Germ cell tumors (GCTs) are the most frequent cancer in men aged 15 to 34 years. These tumors are highly responsive to therapy with platinum- containing regimens, and 80% of cases so treated can be considered cured. Cytogenetically, 80% of GCTs have an i(12p) regardless of tumor site or histopathology, and those that are i(12p) negative have other manifestations of 12p amplification. GCTs occasionally arise extragonadally, and such cases can be especially difficult to distinguish from poorly differentiated somatic carcinomas, a situation that poses a diagnostic and treatment dilemma. We developed a technique for two-color fluorescence in situ hybridization chromosome painting on nuclei released from paraffin-embedded sections. In four tumors for which GCT was a differential diagnosis, we examined the 12p and 12q chromosome arm distributions by this technique. By use of 12p and 12q painting probes developed by microdissection, 12p and 12q were distinguished and their relative distributions evaluated. In each of the four cases, 12p regions seemed to be rearranged and over-represented relative to 12q regions. In three of the cases, an apparent i(12p) could be identified. These results support a diagnosis of GCT or GCT origin in these four cases. In tumors for which specific cytogenetic abnormalities are known, chromosome painting by fluorescence in situ hybridization using paraffin-embedded tissue is a useful technique to aid in the diagnosis of tumors that are difficult to differentiate. The patients can then be placed on treatment regimens appropriate for their specific tumor type.

Original languageEnglish (US)
Pages (from-to)634-641
Number of pages8
JournalModern Pathology
Issue number7
StatePublished - Jul 1998


  • Chromosome 12
  • FISH
  • Germ cell tumor
  • i(12p)
  • Paraffin-embedded tissue
  • Undifferentiated primary

ASJC Scopus subject areas

  • Pathology and Forensic Medicine

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