ABSTRACT
OBJECTIVES: Pheochromocytomas (PHEO) are neuroendocrine tumors rarely diagnosed in children. We are reporting on the management challenges of three adolescent patients who present with hereditary PHEO. CASE PRESENTATION: The index patient and his male sibling presented with bilateral PHEO, while a third patient presented with a unilateral PHEO, all associated with von Hippel-Lindau (VHL) syndrome. The patients were treated with computed tomography (CT)-guided percutaneous cryoablation (CRA) of the adrenal lesions, with varying degrees of success. CONCLUSIONS: CT-guided percutaneous CRA of hereditary PHEO has not been reported in the pediatric population and may represent a novel treatment strategy that reduces the risk of intraprocedural complications and adrenal insufficiency (AI).
Subject(s)
Adrenal Gland Neoplasms , Cryosurgery , Pheochromocytoma , Tomography, X-Ray Computed , Humans , Pheochromocytoma/surgery , Pheochromocytoma/diagnostic imaging , Adrenal Gland Neoplasms/surgery , Adrenal Gland Neoplasms/diagnostic imaging , Cryosurgery/methods , Male , Adolescent , Female , Child , Prognosis , von Hippel-Lindau Disease/surgery , von Hippel-Lindau Disease/complicationsABSTRACT
Using an FLP/FRT-based method to create germline clones, we screened Drosophila chromosome arms 2L and 3R for new female meiotic mutants. The screen was designed to recover mutants with severe effects on meiotic exchange and/or segregation. This screen yielded 11 new mutants, including six alleles of previously known meiotic genes (c(2)M and ald/mps1). The remaining five mutants appear to define at least four new genes whose ablation results in severe meiotic defects. Three of the novel meiotic mutants were identified at the molecular level. Two of these, mcm5(A7) and trem(F9), define roles in meiotic recombination, while a third, cona(A12), is important for synaptonemal complex assembly. Surprisingly, five of the nine mutants for which the lesion has been identified at the molecular level are not the result of mutations characteristic of EMS mutagenesis, but rather due to the insertion of the transposable element Doc. This study demonstrates the utility of germline clone-based screens for the discovery of strong meiotic mutants, including mutations in essential genes, and the use of molecular genetic techniques to map the loci.
