Objectives
Preferentially expressed antigen in melanoma (PRAME) has a key role in regulating pluripotency of primordial germ cells and in the development of germ cell tumors of the testis (GCTT). However, its immunohistochemical expression in normal testes and its neoplastic counterpart remain largely unknown.
Methods
We retrospectively investigated the expression of PRAME in 26 cases of GCTT, 21 cases of germ cell neoplasia in situ (GCNIS), and 17 cases of uninvolved background testes.
Results
We found that PRAME was expressed more strongly by seminomatous rather than nonseminomatous GCTT (P = .000) and by pure seminoma rather than the seminoma component of seminomatous/nonseminomatous GCTT (P = .025). In addition, GCNIS and uninvolved background testes displayed high levels of PRAME expression.
Conclusions
PRAME is an additional marker for the differential diagnosis of GCTT and could play a key role in the transition from seminomatous to nonseminomatous GCTT.
Background: Clear cell tubulo-papillary renal cell carcinoma (cctpRCC) is characterized by clear cell morphology, but differs from conventional clear cell carcinoma (ccRCC) for its indolent clinical behavior and genetic background. The differential diagnosis between the two is based on histology and immunohistochemistry (IHC). Methods: We performed a comparative case-control histological, IHC, and genetic analysis by next generation sequencing (NGS), to point out the differences in 10 cases of cctpRCC, and six controls of ccRCC with low stage and grade. Results: All 16 cases showed the IHC profile with cytokeratin 7, racemase, and carbonic anhydrase IX expected for the histological features of each tumor type. By contrast, the NGS mutation analysis that covered 207 amplicons of 50 oncogenes or tumor suppressor genes provided conflicting results. Among the 10 cctpRCC cases, eight (80%) were wild type for all of the genes in the panel, while two (20%) harbored VHL mutations typical of ccRCC. Three of the six (50%) ccRCC control cases showed expected VHL mutations; two (33%) harbored pathogenic mutations in the p53 or the CKIT genes; and one (16%) was wild type. Conclusion: We can assume that histology and ICH are not sufficient for a definitive diagnosis of cctpRCC or ccRCC. Although with a panel covering 50 genes, we found that 80% of cctpRCC were genetically silent; thus, suggesting an indolent biology of these tumors. The differential diagnosis between ccptRCC and ccRCC for the choice of the best therapeutic strategy likely requires the comprehensive evaluation of histology, IHC, and at least VHL mutations.
Background: Autoimmune hepatitis (AIH) is a chronic and aggressive liver disease that rapidly evolves into cirrhosis and end-stage liver disease if not timely diagnosed and treated with immunosuppressive therapy. AIH is classified into type 1 and type 2 according to the autoantibody pattern, with smooth muscle antibodies and/or antinuclear antibodies as serological markers of AIH-1, while antiliver cytosol antibody type 1 and/or antiliver/kidney microsomal antibody type 1 characterize type 2 AIH, which mainly affects children, including infants, and adolescents. Case Summary: We describe a case of type 2 AIH, clinically onset in a 34-year-old woman with decompensated cirrhosis. Only a thorough analysis of the autoantibody profile allowed for a diagnosis of an AIH-2 evolved into cirrhosis. The patient received a moderate corticosteroid therapy without achieving optimal disease control. We discuss the controversial decision of whether or not to treat the patient with immunosuppressive therapy, which should be balanced with the potential risk of infectious and other complications. A review of the literature on the management of patients with autoimmune cirrhosis is also presented. Conclusions: AIH-2 can be clinically onset in adult patients with cirrhosis and its complications, without being preceded by major clinical signs. Due to the difficult management of cirrhosis with immunosuppressive treatments, a patient-tailored strategy with a case-by-case approach is needed to prevent major complications such as infections, potentially precluding liver transplantation the only curative therapy.
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