Child with mosaic variegated aneuploidy and embryonal rhabdomyosarcoma

We report on a 7-year-old boy with mosaic variegated aneuploidy (MVA) who d eveloped embryonal rhabdomyosarcoma of the soft palate. This patient is the 11th case report of MVA and represents further documentation of the true e xistence of this rare mitotic mutant. Clinical findings share similarities to those previously described patients including microcephaly and growth re tardation as the two most common abnormalities. Notably, mental retardation is not universally present. Results of serial cytogenetic analyses perform ed on somatic and neoplastic tissues are reviewed and compared with those o f other previously reported patients. We postulate that mosaic variegated a neuploidy is causally related to the development of rhabdomyosarcoma in our patient. This is the first report of a patient with MVA who developed canc er and suggests that these patients may be at risk for malignancy and requi re long-term follow-up and cancer surveillance. (C) 1999 Wiley-Liss, Inc.