Assisted reproductive technology and congenital overgrowth:some speculations on a case of Pallister-Killian syndrome

We report on a boy with Pallister-Killian syndrome (PKS) who was conceived by assisted reproductive technology (ART), specifically in vitro fertilization (IVF) with parents' gametes. A prenatal diagnosis performed elsewhere by CVS failed to detect the presence of the isochromosome 12p that was demonstrated postnatally in approximately 50% of cultured skin fibroblasts. Given that the patient did not show the congenital overgrowth typical of PKS, we speculate that ART might have restricted overgrowth in this particular case. More broadly, we hypothesize that overgrowth might protect from early demise fetuses conceived by ART, a technology known to cause low and very low birth weight

'Secondary chronic myeloid leukemia': comparison between patients previously exposed or not to chemo- and/or radiotherapy

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Constitutional trisomy 8 and myelodysplasia: report of a case and review of the literature

A diagnosis of myelodysplastic syndrome was made in an 18-year-old patient with Warkany syndrome due to constitutional trisomy 8 mosaicism. The possible causal role of this particular chromosome constitution with respect to myelodysplasia and embryonal childhood tumors is discussed

Sorafenib for refractory FMS-like tyrosine kinase receptor-3 (FLT3/ITD+) acute myeloid leukemia after allogenic stem cell transplantation.

Mutations of FLT3 in AML is an entity characterized by a significant poor prognosis and are described in about 30% of AML in adults. Usually patients with this subtype of AML carrying either internal tandem duplication (ITD) or mutation at codon 835 are referred for allogeneic stem cell transplantation (ASCT) but a proportion of them would eventually relapse. The introduction of targeted therapy against FLT3 + AML is yielding conflicting results and many trials are running with new molecules. We used sorafenib, a multi-targeted tyrosine kinase inhibitor FDA approved for the treatment of advanced renal cell and hepatocellular carcinoma, on a compassionate basis in two patients with FLT3 + AML relapsing after ASCT