A huge metaplastic breast carcinoma with chest wall invasion and pulmonary metastasis: a rare case report.

Metaplastic breast carcinoma (MBC) is a diverse group of invasive breast carcinoma, in which the neoplastic epithelium differentiates toward squamous cells or mesenchymal looking elements, including but not restricted to spindle, osseous and chondroid cells. MBC was formally considered a distinct pathological pattern by WHO classification of breast tumors in 2000. We report the case of a 49-year-old Syrian female who presented to our hospital due to a painful huge mass in her right breast. Radiographic and clinical findings were highly indicative of breast carcinoma. Therefore, a core needle biopsy was performed, and surprisingly, microscopic examination suggested the diagnosis of soft tissue sarcoma, whereas immune stains confirmed the diagnosis of metaplastic carcinoma. We aim to introduce a challenging case that clarifies the rarity of this tumor, and the methods we used in diagnosing, examining and treating this malignancy.

Banded chromosomes versus fluorescence in situ hybridization in the diagnosis of mantle cell lymphoma: a lesson from three cases.

We present three cases with presumptive evidence of mantle cell lymphoma (MCL) that were submitted for cytogenetic evaluation. Chromosome analysis showed a normal karyotype in two cases, while the third case showed the composite karyotype; 45,XY,t(1;22)(p13;q13),23,del(10)(q22),add(15)(q22),add(17)(p13). The characteristic t(11;14)(q13;q32) for MCL was not observed by conventional karyotyping in any of the cases. We furthermore evaluated the specimens by fluorescence in situ hybridization (FISH) using the dual-color LSI IgH/CCND1 DNA probe. Fusion signals, consistent with t(11;14)(q13;q32), were observed in 65% and 85% of interphase cells in cases 1 and 2, respectively, while the metaphases from both cases revealed a normal pattern. All abnormal metaphases as well as 57% of interphase cells from case 3 displayed a fusion signal. In the abnormal metaphase cells, the fused signal was located on the normally looking 14q32, suggesting that the IgH/CCND1 fusion resulted from the insertion of the CCND1 gene into 14q32 adjacent to the IgH gene. Thus, FISH confirmed the diagnosis of MCL by showing the IgH/CCND1 fusion. In addition, these findings indicate that the sensitivity of FISH is superior to that of conventional cytogenetics in detecting t(11;14)(q13;q32) associated with MCL.

Cytogenetic findings in two new cases of hepatoblastoma.

We describe two cases of hepatoblastoma occurring in an 18-month-old boy and a 3-month-old girl. Cytogenetic analysis of the primary tumors revealed gain of 2q and 20 in both cases. In case 1, t(7;8;11) was seen as a secondary abnormality. Other chromosomal aberrations seen in case 2 were unbalanced t(1;1) and t(2;11), resulting in partial gains of 1q and 2q. These results support previous reports that gains of 2q and 20 and rearrangement of chromosome 1 are strongly associated with hepatoblastoma and may be essential for establishing this neoplasm. The 11q and 7q abnormalities may represent a pathway of genetic evolution associated with hepatoblastoma progression.