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

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

Research output: Contribution to journalArticle

9 Citations (Scopus)

Abstract

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
Pages (from-to)634-641
Number of pages8
JournalModern Pathology
Volume11
Issue number7
StatePublished - Jul 1998

Fingerprint

Chromosome Painting
Germ Cell and Embryonal Neoplasms
Interphase
Paraffin
Differential Diagnosis
Neoplasms
Fluorescence In Situ Hybridization
Microdissection
Paintings
Platinum
Chromosome Aberrations
Therapeutics
Color
Chromosomes
Carcinoma

Keywords

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

ASJC Scopus subject areas

  • Pathology and Forensic Medicine

Cite this

Interphase chromosome painting of paraffin-embedded tissue in the differential diagnosis of possible germ cell tumors. / Blough, Ruthann I.; Heerema, Nyla A.; Ulbright, Thomas; Smolarek, Teresa A.; Roth, Lawrence M.; Einhorn, Lawrence.

In: Modern Pathology, Vol. 11, No. 7, 07.1998, p. 634-641.

Research output: Contribution to journalArticle

Blough, Ruthann I. ; Heerema, Nyla A. ; Ulbright, Thomas ; Smolarek, Teresa A. ; Roth, Lawrence M. ; Einhorn, Lawrence. / Interphase chromosome painting of paraffin-embedded tissue in the differential diagnosis of possible germ cell tumors. In: Modern Pathology. 1998 ; Vol. 11, No. 7. pp. 634-641.
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