Carcinoma-like monotypic epithelioid angiomyolipoma in patients without evidence of tuberous sclerosis: A clinicopathologic and genetic study
| Autor: | Giuseppe Zamboni, M Maran, Franco Bonetti, G.M. Mariuzzi, Lucia Longa, Carlo Zancanaro, C Carbonara, M Brisigotti, M Pea, Guido Martignoni |
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| Jazyk: | angličtina |
| Rok vydání: | 1998 |
| Předmět: |
Adult
Male Pathology medicine.medical_specialty Heterozygote Angiomyolipoma Vimentin Biology Tuberous Sclerosis Complex 1 Protein Pathology and Forensic Medicine Angioma Tuberous sclerosis Fatal Outcome Antigens Neoplasm Tuberous Sclerosis Eosinophilic Tuberous Sclerosis Complex 2 Protein medicine Biomarkers Tumor Humans CD68 Tumor Suppressor Proteins Loss of heterozygosity Proteins Lipoma Middle Aged medicine.disease Immunohistochemistry Kidney Neoplasms Renal cell carcinoma TSC2 Neoplasm Proteins Repressor Proteins Microscopy Electron Kidney tumors Tuberous sclerosis complex Perivascular epithelioid cells biology.protein Surgery Female Anatomy Chromosome Deletion Epithelioid cell Melanoma-Specific Antigens HMB45 |
| Popis: | We report the clinicopathologic, immunohistochemical, ultrastructural, and genetic features of an unusual renal tumor composed of large, atypical, densely packed, clear/eosinophilic epithelioid cells. Three patients, two men and one woman (ages 31, 36, and 60 years of age, respectively), had abdominal pain. Morphologically, all cases showed aggressive features (largeness, atypical cells, sarcomatoid features, necrosis, and, in one case, invasion of the renal vein). Despite the marked morphologic resemblance of these tumors to high-grade sarcomatoid renal cell carcinoma, their phenotype (HMB45+, CD68+/-, actin+/-, and vimentin and keratin negative) is in contrast to that observed in epithelial tumors and parallels the phenotypic profile of angiomyolipoma. Ultrastructural analysis showed the presence of glycogen, mitochondria, and prominent electron-dense, membrane-bound granules in the neoplastic cells, and the absence of melanosomes or premelanosomes. Genetic study, performed using polymerase chain reaction from paraffin sections, showed a loss of heterozygosity at the TSC2-containing region on 16p in one case, and on 3p in two cases, showing that multiple genetic alterations are taking place in these tumors. Follow-up has shown local recurrence in one case after 6 years, and the patient died 1 year later of cardiorespiratory failure. The other two patients are well after 26 and 10 months. All three patients were evaluated for signs of tuberous sclerosis, and findings were negative. We suggest that these tumors should be considered close relatives of the angiomyolipoma variants, composed purely of perivascular epithelioid cells. More cases and longer follow-up durations are needed to fully evaluate its prognostic implication. |
| Databáze: | OpenAIRE |
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