Abstract:
:Four cases of large cell calcifying Sertoli cell tumor, 3 benign and 1 malignant, with no clinical signs of Carney complex or Peutz-Jeghers syndrome are reported with results of histologic, immunohistochemical, ultrastructural, and comparative genomic hybridization studies. Analysis of PRKAR1A gene was performed on 2 cases. The age range of the patients was 19 to 54 years. The patient with a malignant large cell calcifying Sertoli cell tumor died of disease 4 years after surgery. Patients with benign tumors have had an uneventful follow-up for 1 and 3 years. All tumors were well circumscribed, unencapsulated, and composed of solid sheets, irregular cords, tubular structures, and nests in a fibrous and/or myxoid stroma with cellular atypia in the malignant case. All tumors showed diffuse immunoreactivity for inhibin, vimentin, calretinin, and S100 protein. Focal positivity for cytokeratin (AE1/AE3) was noticed in 1 case. Tumors were negative for CAM 5.2, Mic-2, Melan-A laminin, placental alkaline phosphatase, and alpha-fetoprotein. The proliferation index was 5% and 10% for 2 of the benign tumors and 30% for the malignant tumor. Comparative genomic hybridization was performed in 2 cases. There was no evidence of any major chromosomal changes. In one case, no PRKAR1A gene mutation was found. In the other case, a heterozygous shift mutation c.65_84dup was found, despite the absence of other clinical signs of Carney complex or Peutz-Jeghers syndrome. Although the combination of large cell calcifying Sertoli cell tumor and PRKAR1A mutation fulfills the criteria for establishing a diagnosis of Carney complex, the clinical relevance of finding a PRKAR1A gene mutation in a patient without any clinical signs of Carney complex or Peutz-Jeghers syndrome remains to be established.
journal_name
Hum Patholjournal_title
Human pathologyauthors
Petersson F,Bulimbasic S,Sima R,Michal M,Hora M,Malagon HD,Matoska J,Hes Odoi
10.1016/j.humpath.2009.09.008subject
Has Abstractpub_date
2010-04-01 00:00:00pages
552-9issue
4eissn
0046-8177issn
1532-8392pii
S0046-8177(09)00355-4journal_volume
41pub_type
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