Short communicationsIsochromosome (12p) and Peritriploidy in a Highly Malignant Extrarenal Rhabdoid Tumor
Introduction
Peritriploidy and the presence of one or more copies of an i(12p) chromosome are considered to be the cytogenetic hallmarks of testicular germ-cell tumors 1, 2, 3. Only very occasionally has i(12p) been encountered in other solid neoplasms 4, 5, 6. Here we present a new case of i(12p) and peritriploidy in an extrarenal rhabdoid tumor.
Section snippets
Case report
A 63-year-old Caucasian male with a history of terminal renal insufficiency and three kidney transplantations presented with a tumor in the right forearm. The tumor was resected but recurred 1 month later with axillary and supraclavicular metastases. After removal of two pathologic lymph nodes, radiation therapy was given. Despite this therapy, recurrence was noted later in the axillary and scapular regions.
Light microscopy of the biopsy of the forearm showed rounded tumor cells with
Cytogenetic study
A freshly excised tumor sample was processed for short-term tissue culture. Subsequent chromosome analysis was performed on G-banded metaphase spreads by using standard procedures. This resulted in a karyotype that reads as follows (ISCN): 61∼83,X,+X,−Y,+1,+del(1)(q21),+2,+3,+4,+4,+del(5)(q13),+6,+7,+7,+8,+8,+i(8)(q10),+i(9)(q10),+10,+10,+11,+12,+i(12)(p10),+14,+15,+16,+17,+18,+18,+18,+19,+19,+20,+21,+22,+mar [cp20] (Fig. 2). Subsequent fluorescence in situ hybridization analysis with the use
Discussion
Testicular germ-cell tumors are characterized by highly aneuploid karyotypes in addition to the presence of one or more copies of an i(12p) chromosome 1, 2, 3. In patients who developed invasive tumors, peritriploidy was predominantly observed, whereas patients who had not yet developed invasive tumors were characterized by peritetraploidy 7, 8. In addition, the presence of one or more copies of an i(12p) chromosome seems to correlate with tumor progression or therapy resistance or both 9, 10,
Acknowledgements
The authors thank R. Veth, for advice and support, and the members of the Tumor Cytogenetics group, for expert technical assistance.
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