TY - JOUR
T1 - Renal cell carcinoma in children and young adults
T2 - Analysis of clinicopathological, immunohistochemical and molecular characteristics with an emphasis on the spectrum of Xp11.2 translocation-associated and unusual clear cell subtypes
AU - Wu, A.
AU - Kunju, L. P.
AU - Cheng, L.
AU - Shah, R. B.
PY - 2008/11
Y1 - 2008/11
N2 - Aims: Recent studies suggest that paediatric renal cell carcinoma (RCC) may represent a distinct group of tumours; however, its biological behaviour and classification remain poorly understood. The aim was to analyse 13 RCCs from patients ≤23 years of age to determine their clinicopathological, immunohistochemical and molecular characteristics. Methods and results: The histological spectrum included: Xp11.2 translocation-associated (6/13 patients, 46%), clear cell (5/13 patients, 38%), papillary (1/13 patients) and unclassified (1/13 patients) types. The Xp11.2 translocation-associated RCCs had a wide morphological spectrum, with high nuclear grade cells with abundant cytoplasm ranging from clear to granular and architecture ranging from solid to papillary. These tumours lacked cytokeratin expression and were confirmed by nuclear reactivity for TFE3 protein. Most of these translocation-associated tumours presented at high stage and had an unfavourable outcome. Three clear cell RCCs had unusual features that have not been previously characterized, including solid and cystic architecture, cells with abundant eosinophilic cytoplasm yet low nuclear grade and focal cytoplasmic inclusions, resembling oncocytoma. Deletion of subtelomeric 3p25 was observed in two of these RCCs. Conclusions: Xp11.2 translocation-associated RCC represents a predominant and aggressive subtype in the paediatric age group. Increased awareness of this subtype is important due to its heterogeneous morphology.
AB - Aims: Recent studies suggest that paediatric renal cell carcinoma (RCC) may represent a distinct group of tumours; however, its biological behaviour and classification remain poorly understood. The aim was to analyse 13 RCCs from patients ≤23 years of age to determine their clinicopathological, immunohistochemical and molecular characteristics. Methods and results: The histological spectrum included: Xp11.2 translocation-associated (6/13 patients, 46%), clear cell (5/13 patients, 38%), papillary (1/13 patients) and unclassified (1/13 patients) types. The Xp11.2 translocation-associated RCCs had a wide morphological spectrum, with high nuclear grade cells with abundant cytoplasm ranging from clear to granular and architecture ranging from solid to papillary. These tumours lacked cytokeratin expression and were confirmed by nuclear reactivity for TFE3 protein. Most of these translocation-associated tumours presented at high stage and had an unfavourable outcome. Three clear cell RCCs had unusual features that have not been previously characterized, including solid and cystic architecture, cells with abundant eosinophilic cytoplasm yet low nuclear grade and focal cytoplasmic inclusions, resembling oncocytoma. Deletion of subtelomeric 3p25 was observed in two of these RCCs. Conclusions: Xp11.2 translocation-associated RCC represents a predominant and aggressive subtype in the paediatric age group. Increased awareness of this subtype is important due to its heterogeneous morphology.
KW - Renal cell carcinoma in children and young adults
KW - TFE3
KW - Xp11.2 translocation-associated renal cell carcinoma
UR - http://www.scopus.com/inward/record.url?scp=54949113945&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=54949113945&partnerID=8YFLogxK
U2 - 10.1111/j.1365-2559.2008.03151.x
DO - 10.1111/j.1365-2559.2008.03151.x
M3 - Article
C2 - 18983462
AN - SCOPUS:54949113945
SN - 0309-0167
VL - 53
SP - 533
EP - 544
JO - Histopathology
JF - Histopathology
IS - 5
ER -