Clinical and biological significance of CDK4 amplification in well-differentiated and dedifferentiated liposarcomas.

Purpose: The MDM2 and HMGA2 genes are consistently amplified in well-differentiated/dedifferentiated liposarcomas (WDLPS/DDLPS) whereas CDK4 is frequently but not always amplified in these tumors. Our goal was to determine whether the absence of CDK4 amplification was (a) correlated to a specific clinico-histopathologic profile; and (b) compensated by another genomic anomaly involving the CCND1/CDK4/P16INK4a/RB1/E2F pathway.

Experimental Design: We compared the clinical characteristics of a series of 143 WDLPS/DDLPS with amplification of both MDM2 and CDK4 (MDM2+/CDK4+) to a series of 45 WDLPS/DDLPS with MDM2 amplification and no CDK4 amplification (MDM2+/CDK4-).

NFIB rearrangement in superficial, retroperitoneal, and colonic lipomas with aberrations involving chromosome band 9p22.

Lipomas are frequently characterized by rearrangements resulting in the fusion of the HMGA2 gene (12q14.3) with a variety of partners. Chromosome band 9p22 rearrangements occur in about 1% of lipomas.

HMGA2 is the partner of MDM2 in well-differentiated and dedifferentiated liposarcomas whereas CDK4 belongs to a distinct inconsistent amplicon.

Data concerning the fine structure of the 12q13-15 amplicon which contains MDM2 and CDK4 in well-differentiated and dedifferentiated liposarcomas (WDLPS/DDLPS) are scarce. We investigated a series of 38 WDLPS/DDLPS using fluorescence in situ hybridization analysis with 17 probes encompassing the 12q13-15 region. In addition, using quantitative RT-PCR we studied the expression of MDM2, CDK4, DDIT3 (CHOP/GADD153), DYRK2, HMGA2, TSPAN31 and YEATS4 (GAS41) in 11 cases.

Gains and complex rearrangements of the 12q13-15 chromosomal region in ordinary lipomas: the "missing link" between lipomas and liposarcomas?

Well-differentiated liposarcomas (WDLPS) classically contain high-level amplification of 12q14-15 sequences, including the MDM2 and CDK4 genes, while lipomas are characterized by simple structural chromosome aberrations often involving HMGA2 at 12q15. Previous studies have shown that low-level gain of the 12q14-15 region, such as trisomy 12 and 12q15-24 duplication, might be sufficient for the development of minimal atypia and formation of WDLPS. Moreover, because some features, such as overexpression of HMGA2, are shared by both lipomas and WDLPS, it has been hypothesized that lipomas and WDLPS may form a genetic and morphological continuum.

[Primary pleomorphic rhabdomyosarcoma of the kidney in adults: unusual tumor].

Primary rhabdomyosarcoma (RMS) of the kidney in an adult is a very rare and unusual tumor in this site. The clinical signs associated with the flank tumoral syndrome, the histologic appearance of cytoplasmic double striation in rhabdomyoblasts and the immunohistochemical expression of skeletal muscle differentiation (desmin, myoglobin, myogenin) are described in the context of a rapidly evolving renal RMS in a 77-year old man. The differential diagnosis are mainly represented by sarcomatoid renal cell carcinoma.

Acute acalculous cholecystitis associated with aortic dissection: report of a case.

Acute acalculous cholecystitis is uncommon, but not rare. Classically, this disease is observed in the intensive care unit associated with major trauma, burns, or surgery. Moreover, comorbidity such as infection, hypertension, and diabetes mellitus is often found.

11q13 alterations in two cases of hibernoma: large heterozygous deletions and rearrangement breakpoints near GARP in 11q13.5.

Hibernomas are rare, benign tumors with a histological appearance resembling that of brown adipose tissue. The diagnosis of hibernomas may be difficult because some of them contain only a small number of the characteristic multivacuolated fat cells and can be mistakenly classified as well-differentiated liposarcomas. Cytogenetic information has been reported for 10 cases, showing that these tumors are characterized by structural rearrangements involving 11q13.

Rearrangement involving chromosomes 1 and 8 in a retroperitoneal lipoma.

Superficial lipomas are very common benign adipose tissue tumors. In contrast, deep-seated lipomas such as retroperitoneal lipomas, are extremely rare and have to be carefully distinguished from well-differentiated liposarcomas for appropriate treatment and follow-up. We report to, our knowledge, the first cytogenetic analysis of a retroperitoneal lipoma occurring in an adult, which showed a complex rearrangement interpreted as t(1;8)(q32;q22-q23) followed by a pericentric inversion of der(8).