Gliosarcoma arising in patient with Cowden's syndrome (thyroid lesion, thigh haemangioma, Lhermitte Duclos lesion))

Case contributed by Dr Lillian Lai

Presentation

Patient presented with left-sided headaches, left ear pain, personality changes and word finding difficulty.

Patient Data

Age: 55 years
Gender: Male

MRI brain: Heterogeneously enhancing mass involving the left temporal lobe  with associated significant mass effect. Another T2 hyperintense lesion with folial thickening in the left cerebellum is characteristic finding of the dysplastic cerebellar gangliocytoma (also know as the Lhermitte-Duclos disease seen in Cowden syndrome.)

CT body: Multiple skin tags. Thyroid mass, concerning for malignancy. Bilateral adrenal likely hamartomas or adrenal myelolipomas.

CT showing a large, heterogeneous lesion of right thigh containing fat and calcifications. MR showed heterogenous signal including fat, soft tissue, and calcifications; most consistent with hemangioma.

Case Discussion

Upon additional clinical history, the patient had a family history of Cowden's syndrome. Craniectomy and tumor resection of the malignant-appearing left temporal mass was performed, revealing a gliosarcoma. No biopsies of the other lesions was performed.

Cowden syndrome:

  • Autosomal dominant inherited mutations of PTEN gene.
  • Diverse manifestations including breast, endometrial, thyroid, kidney and colorectal cancers, dermatologic features such as oral and skin papillomas, trichilemmomas, and gastrointestinal features such as mixed polyposis including hamartomas, and neurologic features such as Lhermitte–Duclos disease.
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Case information

rID: 30599
Case created: 20th Aug 2014
Last edited: 18th Feb 2017
Inclusion in quiz mode: Included

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