Clinicopathologic and molecular genetic study of renal cell carcinoma occurring in teenagers / 中华病理学杂志
Chinese Journal of Pathology
;
(12): 582-586, 2010.
Article
in Chinese
| WPRIM
| ID: wpr-333205
ABSTRACT
<p><b>OBJECTIVE</b>To investigate clinicopathological features, molecular genetic characteristics, differential diagnoses and prognosis of renal cell carcinoma in teenagers.</p><p><b>METHODS</b>Microscopic and immunohistochemical features of 46 cases of renal cell carcinomas in teenagers were reviewed along with the clinical follow-up data. Loss of heterozygosity (LOH), analysis of von Hippel-Lindau (VHL) gene and screening for VHL gene mutations were performed in all of the tumors.</p><p><b>RESULTS</b>There were 19 Xp11.2 translocations/TFE3 gene fusions renal clear cell carcinomas (Xp11 RCCs), 9 chromophobe renal cell carcinomas (CCRCCs), 17 papillary renal cell carcinomas (PRCCs), and 1 unclassified renal cell carcinoma (RCC). All of the 19 Xp11.2 translocation RCCs showed a moderate to strong immunoreactivity for TFE, however, no TFEB expression was obtained. There were 4 histological patterns in the Xp11 RCC cases including 8 tumors possessing a nested to papillary architecture resembling to the t(X;17) ASPL-TFE3 phenotype; 6 tumors possessing a morphologic feature like the t(X;1) PRCC-TFE3 phenotype; 4 cases morphologically resembling to clear cell RCC; and 1 Xp11 RCC case, with a special morphologic feature not searched yet in the literature, including a ground glass appearance of the nuclei accompanying occasionally with grooves on the nuclear surface; nucleoli inconspicuous with accumulation of abundant mucin-like substance in the stroma. VHL gene analysis revealed deletions at 3p25-26 in one clear cell RCC and one papillary type 2 RCC. The papillary type 2 RCC had also a family history of VHL disease, with a germline G→C mutation at a splicing site of position 553+5. There were no VHL mutations detected in the remaining 45 RCCs. Statistical analysis of tumor stage and outcome revealed that TFE+ RCCs of teen-agers were more frequently associated with a higher pT3/pT4 stage and a poorer outcome than that of the TFE-RCCs (P < 0.05).</p><p><b>CONCLUSIONS</b>RCCs of the teenagers have a different morphologic spectrum and genetic background from the RCCs seen in adults. Among RCCs of the teen-agers, Xp11.2 translocation tumors are the most common RCCs and have a poorer prognosis than that of the TFE-RCCs.</p>
Full text:
Available
Index:
WPRIM (Western Pacific)
Main subject:
Pathology
/
Phenotype
/
Translocation, Genetic
/
Chromosomes, Human, Pair 11
/
Carcinoma, Papillary
/
Carcinoma, Renal Cell
/
Neprilysin
/
Survival Rate
/
Follow-Up Studies
/
Loss of Heterozygosity
Type of study:
Diagnostic study
/
Observational study
/
Prognostic study
Limits:
Adolescent
/
Adult
/
Child
/
Child, preschool
/
Female
/
Humans
/
Male
Language:
Chinese
Journal:
Chinese Journal of Pathology
Year:
2010
Type:
Article
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