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Impressum
Loss of Fragile Histidine Triad (FHIT) expression and microsatellite instability in periocular sebaceous gland carcinoma in patients with Muir-Torre syndrome
Holbach L. M., von Moller A., 1Decker C., Jünemann A. G. M., 1Ballhausen W. G.
Augenklinik mit Poliklinik, Universität Erlangen-Nürnberg, Schwabachanlage 6, D-91054 Erlangen; 1Abteilung Molekulare Gastroenterologische Onkologie, Universität Halle-Biocenter, Weinbergweg 22, D-06120 Halle
Purpose: To describe fragile histidine triad (FHIT) expression
and microsatellite instability (MSI) in periocular sebaceous gland carcinoma
(SGC).
Methods: Biopsy specimens obtained from six patients (mean age
60+/-17 years, range 38 to 83 years, 5 male, 1 female) with Muir-Torre
syndrome and histopathologically proven SGC were studied immunohistochemically
for the presence of FHIT protein. Polymerase chain reaction based analysis
of the markers BAT25, BAT26,D2S123, D5S346 and D17S250 was performed for
MSI in tumorous and matching normal tissues.
Results: FHIT protein was detectable in the SGC from one patient
with MSI. It was not detectable in SGC specimens from five patients without
any evidence of MSI.
Conclusions: Inactivation of FHIT tumor suppressor gene or inactivation
of the mismatch-repair system resulting in MSI may contribute to the development
of periocular sebaceous gland carcinoma in Muir-Torre syndrome.