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Abstract: Neoplastic cells of Hodgkin lymphoma (HL) originating from germinal or postgerminal center B cells lose their capacity to transcribe and to express surface immunoglobulins (Ig). This defect correlates with the absence of expression of B-cell–specific transcription regulators, including PU.1, BOB1, and OCT2. These findings suggest that Ig impairment in HL is caused by the defective transcription machinery. The mechanism or mechanisms underlying failure of Hodgkin cells to express PU.1, BOB1, and OCT2 remain unclear. The genes encoding for these three respective transcription factors have been mapped at 11p11.2 (SPI1), 11q23.1 (POU2AF1), and 19q13.2 (POU2F2); these are chromosomes recurrently affected in HL. To check the genomic status of PU.1, BOB1, and OCT2 in HL, we performed metaphase fluorescence in situ hybridization (FISH) analysis of 10 HL cases using locus-specific bacterial artificial chromosome clones. FISH signal pattern was correlated with the ploidy level of each analyzed cell and showed recurrent imbalances of the studied loci. The underrepresentation of one or two analyzed regions was detected in five cases; the remaining five cases showed either random losses, a ploidy-equivalent FISH pattern, or overrepresented signals. Neither a constant loss nor genomic aberration of at least one of these genes could be observed in studied cases. These findings indicate that genomic imbalances or rearrangements are not a cause of PU.1, BOB1, and OCT2 deficiency in cHL and argue for another mechanism underlying this phenomenon. [Copyright &y& Elsevier]

Abstract: The unbalanced t(1;9) is a rare, recurrent rearrangement in polycythemia vera (PV) resulting in trisomy of both 1q and 9p arms, whereas a balanced t(1;9)(q12;q12), to our knowledge, has never been reported before. We studied two patients with PV and one with idiopathic myelofibrosis bearing an unbalanced t(1;9) and one patient with essential thrombocythemia with a balanced t(1;9). In all cases fluorescence in situ hybridization showed that the breakpoints were located within the satellite II family of heterochromatin of chromosome 1 and the satellite III of chromosome 9. Heterochromatin breakage and reunion produce the unbalanced t(1;9) and may contribute to a gene dosage effect due to gains of 1q and 9p. Case 4 with the balanced t(1;9), however, suggests that translocation of heterochromatin close to critical genes could interfere with their function. The molecular event underlying juxtaposition of satellite II of chromosome 1 and the satellite III of chromosome 9 remains to be elucidated. [Copyright &y& Elsevier]