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Spiradenocylindroma of the Kidney Clinical and Genetic Findings
Suggesting a Role of Somatic Mutation of the CYLD1 Gene in the Oncogenesis
of an Unusual Renal Neoplasm
Philipp Ströbel, M.D. ; Andreas Zettl, M.D. ; Zhou Ren, M.D. ; Petr
Starostik, M.D. ; Hubertus Riedmiller, M.D. ; Stephan Störkel, M.D.
; Hans Konrad Müller-Hermelink, M.D. ; Alexander Marx, M.D.
From the Institute of Pathology (P.S., A.Z., Z.R., P.S., H.K.M.-H.,
A.M.) and the Department of Urology (H.R.), University of Würzburg,
Würzburg, and the Institute of Pathology (S.S.), Klinikum Wuppertal,
Wuppertal, Germany
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Am J Surg Pathol 2002;26:119-124 Abstract quote
We describe the morphology and comparative genomic hybridization findings
in a tumor for which we propose the term “spiradenocylindroma” of the
kidney.
The tumor arose in the wall of a renal cyst in an otherwise healthy
male patient who had a favorable clinical course after nephrectomy.
Tumor cells formed either large nodules exhibiting a solid or trabecular
architecture with conspicuous perivascular spaces or cylindromatous
small tumor cell islands arranged in a jigsaw pattern. Focally, there
were interspersed tubular structures and tumor cell rosettes with central
deposits of periodic acid–Schiff-positive material. A minor tumor component
showed epidermoid differentiation. The tumor cells were strongly positive
for cytokeratins 5/6, high molecular weight cytokeratins 34E12 and AE1/3,
and E-cadherin, but only weakly positive for cytokeratins 7, 8, 18,
19, and epithelial membrane antigen. Focal reactivity for actin, vimentin,
and S-100 protein or lysozyme and 1 -antichymotrypsin within tubular
and cylindromatous areas suggested myoepithelial and apocrine differentiation,
respectively.
By comparative genomic hybridization, the only abnormality was loss
of the long arm of chromosome 16 and gain of genetic material on the
short arm of chromosome 16, suggesting isochromosome i(16p). This finding
is unique among renal neoplasms and implies loss of heterozygosity at
16q12–13 of the CYLD1 gene that is critically involved in the oncogenesis
of familial cylindromatosis and some sporadic spiradenocylindromas.
We conclude that somatic mutation of the CYLD1 gene outside the skin
can have a role in the oncogenesis of tumors with cylindromatous features.
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