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

Journal Article · Thu Sep 01 04:00:00 EDT 1994 · American Journal of Human Genetics

OSTI ID:133475

Blough, R I; Heerema, N A; Smolarek, T A ^[1]

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1. Indiana Univ. School of Medicine, Indianapolis, IN (United States); and others

Germ cell tumors (GCTs) are a leading cause of cancer in young men ages 15-34, and in many cases have metastasized prior to clinical presentation. In some instances, metastatic GCTs have manifested as distinct, non-GCT malignancies, including rhabdomyosarcoma, peripheral neuroepithelioma, and neuroblastoma. In cases where the primary tumor is unknown, or of poorly differentiated pathology, the presence of non-GCT elements may obscure the diagnosis and choice of treatment regimen. Traditional cytogenetic analysis to screen for chromosome 12p rearrangements, especially i(12), is frequently desirable in such cases, but is often overlooked until other avenues of diagnosis are exhausted, at which point no fresh tissue remains. We have developed a reliable technique for fluorescence in situ hybridization (FISH) whole chromosome painting on interphase nuclei released from formalin fixed, paraffin embedded tissues (PET), using painting probes for chromosome 12p and 12q produced by chromosomal microdissection. Using bicolor FISH with these probes, the relative nuclear distribution of 12p and 12q regions can be observed. We successfully applied this technique to four tumors with poorly defined pathology or unknown primary tumors and with a differential diagnosis of GCT. In each case, 12p and 12q could be distinguished, and 12p regions appeared to be rearranged and overrepresented relative to 12q regions. In 3 of 4 cases, a putative i(12p) was identified. These results support a diagnosis of GCT or GCT origin in these three cases.

• OSTI ID: 133475
• Report Number(s): CONF-941009--
• Journal Information: American Journal of Human Genetics, Journal Name: American Journal of Human Genetics Journal Issue: Suppl.3 Vol. 55; ISSN AJHGAG; ISSN 0002-9297
• Country of Publication: United States
• Language: English

Related Subjects

55 BIOLOGY AND MEDICINE
BASIC STUDIES
DIAGNOSIS
DNA HYBRIDIZATION
FLUORESCENCE
GENES
GENETIC MAPPING
GERM CELLS
HUMAN CHROMOSOME 12
MEN
METASTASES
NEOPLASMS
PROBES
THERAPY