ABSTRACT
Medulloblastoma is a malignant invasive embryonal tumor of the cerebellum, representing 15-30% of pediatric brain tumors. An i(17q) abnormality appears in 40% of medulloblastomas, and usually not as a sole aberration; however, cytogenetic data for medulloblastoma are limited. Cytogenetic work-up of tumors is an important tool for diagnosis and prognosis, and in some cases has led to the development of new therapeutic modalities. In the present case, cytogenetic analysis of a medulloblastoma revealed an unbalanced karyotype in all cells analyzed: 46,XY,der(22)t(3;22)(q12;p11.1). This sole unbalanced translocation led to partial trisomy of 3q. The significance of this finding and its role in the pathogenesis of medulloblastoma need further clarification.
Subject(s)
Cerebellar Neoplasms/genetics , Chromosomes, Human, Pair 22 , Chromosomes, Human, Pair 3 , Medulloblastoma/genetics , Translocation, Genetic , Adolescent , Humans , Male , Spectral KaryotypingABSTRACT
Sarcoma botryoides (SB) is a subtype of embryonal rhabdomyosarcoma (ERMS), which belongs to the most common soft-tissue sarcoma in infancy and childhood, the rhabdomyosarcoma (RMS). Most of the vaginal RMS belong to SB, which is five times more common than the cervical ERMS. To date, there is no doubt regarding the significance and importance of chromosomal aberrations in cancer. So far, to our knowledge, no specific chromosomal changes have been reported for ERMS in general and for SB in particular. We describe cytogenetic results of a case of vaginal SB affecting a 1-year-old girl. A clone of trisomy 8 was found in all the analyzed cells as the only chromosomal aberration. The significance of this finding is discussed.
Subject(s)
Chromosomes, Human, Pair 8 , Rhabdomyosarcoma, Embryonal/genetics , Trisomy , Vaginal Neoplasms/genetics , Female , Humans , Infant , KaryotypingABSTRACT
Intraosseous schwannoma is rare, and most commonly occurs in the mandible. Benign classic schwannomas commonly carry normal karyotypes admixed with aberrant near-diploid karyotypes with a few simple clonal chromosome changes, mainly numerical. No consistent chromosomal aberrations have been observed so far. It is unclear whether the chromosomal abnormalities are affected by the anatomic site of the tumor; however, we know of no cytogenetic reports on schwannoma in the oral area. This novel report of cytogenetic analysis of intraosseous schwannoma represents the fifth report on a new balanced translocation in schwannoma in general. We identified clonal t(2;13) in an intraosseous schwannoma of the mandible. The significance of t(2;13) in diagnosis or prognosis is not yet clear, and should be further examined by karyotyping of more schwannoma cases.
