Cowden syndrome with Lhermitte-Duclos disease:a clinicopathological analysis of one case
WANG Cuimei
XU Qing
ZHANG Di
DING Zongmei
Abstract：Objective To summarize the clinicopathological features of Lhermitte-Duclos disease(LDD)accompanied with Cowden syndrome.Methods Clinicopathological data of LDD were retrospectively collected and comprehensively analyzed using hematoxylin-eosin staining,immunohistochemical analysis and molecular testing.Results The lesion was located in the right cerebellar hemisphere.Microscopic examination revealed that the molecular layer,Purkinje cell layer,and granular cell layer of the cerebellar cortex were replaced by abnormally proliferating myelinated axonal bundles and dysplastic ganglion cells.Immunohistochemical analysis demonstrated positivity for S-100,CgA,NSE,and Syn.GFAP staining was positive in the background glial fibers but negative in tumor cells.PTEN,Olig-2 and CD34 expression were absent,Ki-67 labeling index was less than 1%,and P53 showed weak positivity in approximately 1%of cells.Molecular testing confirmed a PTEN gene mutation.Conclusion LDD is a rare central nervous system tumor often associated with Cowden syndrome.Accurate diagnosis relies on histopathological evaluation and immunohistochemical findings.Genetic counseling is recommended for patients to reduce misdiagnosis of Cowden syndrome and to improve long-term outcomes.
Keywords：cerebellumLhermitte-Duclos diseasecowden syndromePTEN mutation
Publication Date：2026-01-28
Online Publishing Date：2026-03-31(First online date of this platform, not the publication date of the document)
Pages：5( 91-95 )