Twenty-six patients who had cytogenetic analyses performed for myeloid malignancies at St. Vincent's Hospital over a 6-year period were found to have an inversion abnormality of chromosome 16 (25 patients) or t(16;16) (1 patient). Only 16 patients had all the features of M4Eo, while the other 10 patients had diagnoses of M2, M4, M5, RAEB, and RAEB-T; six of these had abnormal eosinophils. Thus, abnormal eosinophils were present in 22 of 26 patients (85%). Thirteen patients had additional cytogenetic abnormalities at diagnosis, the commonest being +8 in 5, del(7q) in 4, and +21 in 3. Twenty-three patients received chemotherapy and 20 (87%) achieved complete remission. The median survival of the treated group was 188 weeks with a 61% 2-year and 45% 5-year survival. No significant difference in survival was observed between those patients with a diagnosis of M4Eo and those with other diagnoses suggesting that it is the abnormality of chromosome 16 which confers an improved prognosis. Additional cytogenetic abnormalities present at diagnosis did not affect prognosis. CNS relapse was observed in only two patients (8%), thus indicating no increased incidence of this complication. This study supports the premise that a chromosome abnormality involving 16p13 and 16q22 defines a good prognosis subset of myeloid leukemia despite morphological variations.

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Background: The 9q22.3 syndrome is an autosomal dominant microdeletion syndrome with similarities to Gorlin syndrome (GS). It encompasses the PTCH1 gene locus that harbors mutations for GS. Although the 9q22.3 syndrome is associated with Wilms tumor (WT), WT is not a GS-associated tumor, implying a different mechanism involving PTCH1, or a different locus in the 9q22.3 region. The goal of this study is to report the association between WT and 9q22.3 syndrome and review the outcome of treatment. Observations: We report 2 new cases of WT with 9q22.3 deletion and review the literature. Among the 44 described patients with 9q22.3 deletion, 7 developed WT (16%) at a mean age of 45 months (range, 4 to 84 mo). All patients had dysmorphic features, macrocephaly, and developmental delay, and there was an association with overgrowth (4/7). One patient had bilateral WT, another had a synchronous rhabdomyosarcoma. The outcome was excellent with all cases reported to be in complete remission. Conclusions: The 9q22.3 microdeletion syndrome should be considered at diagnosis of WT in children with dysmorphic features. Conversely, patients with a known 9q22.3 deletion syndrome should be considered for a WT predisposition surveillance program, especially those with overgrowth. The management should be individualized and given the excellent prognosis, and the unknown future risk of metachronous disease or other malignancy, the surgical approach should be carefully considered.