Reduction of expression of tuberin, the tuberous-sclerosis-complex-gene-2 product in tuberous sclerosis complex associated connective tissue nevi and sporadic squamous and basal cell carcinomas

Ralf Wienecke, Eckart Klemm, Sarolta Karparti, Neil Swanson, Andrew J. Green, Jeffrey E. DeClue

Research output: Contribution to journalArticle

7 Citations (Scopus)

Abstract

Background: Patients affected with tuberous sclerosis complex (TSC) are prone to the development of multiple benign tumors of the skin and other organs. Tuberin, the protein product of the tuberous-sclerosis-complex-2 tumor suppressor gene (TSC2) has been shown to inhibit cell proliferation. In TSC associated kidney tumors and sporadic brain tumors the loss/reduction of tuberin has been shown. Methods: Specimens of nine squamous cell carcinomas (SCC) and five basal cell carcinomas (BCC) from patients without TSC and six biopsies of connective tissue nevi (CTN) of patients with TSC were obtained. Specimens were analyzed by immunoblotting for the expression of tuberin. Results: Absent or reduced levels of tuberin were detected in the dermal parts of three of six shagreen patches, two of five BCC, and four of nine SCC. Conclusions: In tumors/hamartomas of patients with TSC the complete loss of TSC2 and tuberin is a mechanism which could be shown for CTN, thereby excluding the possibility of haploinsufficiency of TSC2. In a substantial number of cutaneous BCC and SCC the loss or downregulation of tuberin seems to be epigenetic, as alterations of TSC2 are not known in these tumors. The absence or reduction of tuberin might contribute to their proliferation.

Original languageEnglish (US)
Pages (from-to)287-290
Number of pages4
JournalJournal of Cutaneous Pathology
Volume29
Issue number5
DOIs
StatePublished - 2002

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Tuberous Sclerosis
Basal Cell Carcinoma
Squamous Cell Carcinoma
Genes
Skin
Neoplasms
Haploinsufficiency
Hamartoma
tuberous sclerosis complex 2 protein
Connective Tissue Nevus
Tumor Suppressor Genes
Immunoblotting
Epigenomics
Brain Neoplasms
Down-Regulation
Cell Proliferation
Kidney
Biopsy

ASJC Scopus subject areas

  • Dermatology
  • Pathology and Forensic Medicine

Cite this

Reduction of expression of tuberin, the tuberous-sclerosis-complex-gene-2 product in tuberous sclerosis complex associated connective tissue nevi and sporadic squamous and basal cell carcinomas. / Wienecke, Ralf; Klemm, Eckart; Karparti, Sarolta; Swanson, Neil; Green, Andrew J.; DeClue, Jeffrey E.

In: Journal of Cutaneous Pathology, Vol. 29, No. 5, 2002, p. 287-290.

Research output: Contribution to journalArticle

Wienecke, Ralf ; Klemm, Eckart ; Karparti, Sarolta ; Swanson, Neil ; Green, Andrew J. ; DeClue, Jeffrey E. / Reduction of expression of tuberin, the tuberous-sclerosis-complex-gene-2 product in tuberous sclerosis complex associated connective tissue nevi and sporadic squamous and basal cell carcinomas. In: Journal of Cutaneous Pathology. 2002 ; Vol. 29, No. 5. pp. 287-290.
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abstract = "Background: Patients affected with tuberous sclerosis complex (TSC) are prone to the development of multiple benign tumors of the skin and other organs. Tuberin, the protein product of the tuberous-sclerosis-complex-2 tumor suppressor gene (TSC2) has been shown to inhibit cell proliferation. In TSC associated kidney tumors and sporadic brain tumors the loss/reduction of tuberin has been shown. Methods: Specimens of nine squamous cell carcinomas (SCC) and five basal cell carcinomas (BCC) from patients without TSC and six biopsies of connective tissue nevi (CTN) of patients with TSC were obtained. Specimens were analyzed by immunoblotting for the expression of tuberin. Results: Absent or reduced levels of tuberin were detected in the dermal parts of three of six shagreen patches, two of five BCC, and four of nine SCC. Conclusions: In tumors/hamartomas of patients with TSC the complete loss of TSC2 and tuberin is a mechanism which could be shown for CTN, thereby excluding the possibility of haploinsufficiency of TSC2. In a substantial number of cutaneous BCC and SCC the loss or downregulation of tuberin seems to be epigenetic, as alterations of TSC2 are not known in these tumors. The absence or reduction of tuberin might contribute to their proliferation.",
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AU - Klemm, Eckart

AU - Karparti, Sarolta

AU - Swanson, Neil

AU - Green, Andrew J.

AU - DeClue, Jeffrey E.

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