RESUMO
Large cell calcifying sertoli cell tumor (LCCSCT) is an exceptionally rare neoplasm originating from sperm cord cells. The tumors have relatively low malignant potential and unlikely proceed to metastasis formation. The lesions may occur in an isolated form or in ca. 40% of cases may be associated with genetic abnormalities, by and large Peutz-Jeghers syndrome and Carney complex. At presentation, 20% of LCCSCT cases are bilateral and/or multifocal. Owning to characteristic skin lesions and particular hyperechoic ultrasound image of the tumor, preliminary diagnosis of the syndromic LCCSCT is possible in the preoperative period. Consequently, testicle organ-sparing procedure can be attempted, which is especially justified in bilateral lesions. Here, we report a case of a bilateral LCCSCT in a 20-year-old man with atypical Peutz-Jeghers syndrome due to amplification of the exon 1 of STK11 gene who was successfully treated with bilateral testicle-sparing tumorectomies.
Assuntos
Calcinose/cirurgia , Orquiectomia/métodos , Síndrome de Peutz-Jeghers/complicações , Tumor de Células de Sertoli/cirurgia , Neoplasias Testiculares/cirurgia , Quinases Proteína-Quinases Ativadas por AMP , Calcinose/complicações , Calcinose/patologia , Diagnóstico Diferencial , Humanos , Masculino , Técnicas de Amplificação de Ácido Nucleico , Síndrome de Peutz-Jeghers/diagnóstico , Síndrome de Peutz-Jeghers/genética , Proteínas Serina-Treonina Quinases/genética , Tumor de Células de Sertoli/complicações , Tumor de Células de Sertoli/patologia , Neoplasias Testiculares/complicações , Neoplasias Testiculares/patologia , Adulto JovemRESUMO
We describe a 16-year-old boy with an 8.6Mb interstitial deletion of chromosome 4q 13.3q21.23 identified by oligo array-CGH. The patient presents psychomotor developmental delay, absent speech, marked progressive growth restriction, hearing loss, skeletal defects and minor facial anomalies. The patient required surgical treatment for cleft lip and palate, bilateral cryptorchidism and a neurofibroma. The analysis of the presented patient against previously published cases allowed us to expand further on the phenotype and to reevaluate previously proposed critical overlapping region at 4q21. As an addition to PRKG2 and RASGEFIB genes, we propose to include BMP3 gene as the principal determinant of the observed common phenotype. BMP3 haploinsufficiency appears to be causative of hearing loss and peculiar skeletal abnormalities including hemivertebrae and brachydactyly.