TABLE 2.
Case | Tissue Analyzed |
Initial DDx | Pattern | Immunohistochemical Findings | Karyotype | FISH | RT-PCR | |
---|---|---|---|---|---|---|---|---|
CD56 | Synaptophysin |
FOXO1 locus rearrangement |
||||||
1 | P | High grade neuroendocrine tumor | Solid | + | − | 82–104, XXXX, t(2;13) (q35;q14)x2,+der(2) t(2;13)(q35;q14),+3,+7 +7,+12,+12,+4–9mar | + | PAX3-FOXO1 |
2 | P | Small cell carcinoma, esthesioneuroblastoma | Solid | + | + | NP | NP | PAX7-FOXO1 |
3 | P | High grade neuroendocrine tumor | Solid | + | − | NP | NP | PAX3-FOXO1 |
4 | P | Lymphoma | Solid | + | − | NP | NP | PAX3-FOXO1 |
5 | M | Acute hematologic malignancy | NA | NP | NP | 80–92, XXXX, i(1)(q10), t(2;13)(q35;q14)x2, inc | +* | NP |
6 | P | Undifferentiated small round cell tumor | Solid | + | − | 45, XX, −5, −13,+der(16) t(1;16)(q21;q13) | + | NP |
7 | P, M† | Small cell carcinoma, lymphoma, epithelial neoplasm, rhabdomyosarcoma | NA | NP | − | t(2;13)(q35;q14) | + | NP |
DDx, differential diagnosis; NP, not performed; M, metastasis; NA, not available.
Metaphase FISH with paint probes confirmed the presence of a t(2;13) in this case.
Conventional cytogenetic studies were performed on the primary tumor of this case and FISH studies on a neck metastasis 5 years later.