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Monosomy 7 in myeloid malignancies: parental origin and monitoring by real-time quantitative PCR

Leukemia volume 21, pages 1833–1835 (2007)Cite this article

Monosomy 7 is one of the most frequent chromosome changes observed in patients with myelodysplastic syndromes (MDS) and acute myeloid leukaemia (AML), and it may also be found superimposed to the Philadelphia chromosome in chronic myelocytic leukaemia (CML) in accelerated or blastic phase. It is even more common in secondary MDS/AML, and is associated with a variety of Mendelian and non-Mendelian predisposing disorders or in the so-called monosomy-7 families, where it recurs in subjects developing MDS/AML.1 Also partial monosomy 7 due to structural rearrangements (which thus has a different mechanism of origin as compared to monosomy, that is chromosome breakage vs non-disjunction) is frequently found in association with all the disorders mentioned above, but a single common region of deletion has not yet been identified. Familial cases indicated as unlikely the action of an oncosuppressor gene in the pathogenesis of MDS/AML associated with monosomy 7,1 and its role is thought to be mediated by gene dosage effects, recently investigated by microarray analysis.2 The presence of monosomy 7 portends a poor clinical outcome, both in MDS3 and in AML,4 and hence the clinical relevance of accurate monitoring of the abnormal clone during the course of the disease. We present here data concerning the methods to monitor the consistency of the monosomic clone and the parental origin of the chromosome 7 loss. As to the first point, the monitoring results obtained with cytogenetic techniques were compared with those of a newly developed method based on real-time quantitative polymerase chain reaction (RQ-PCR)5, which we suggest is more reliable. As to the parental origin of the lacking chromosome 7, some data are already available in the literature,6 and our aim was to further contribute to clarifying the issue.

Table 1 lists the clinical and cytogenetic characteristics of the 18 monosomy 7 patients included in this study. Chromosome changes additional to monosomy 7 were present in 11 of them, either as a constitutional or as a clonal anomaly in the bone marrow (BM). The cohort includes 10 men and 8 women, with an age range between 3 and 42 years. Patients 1 and 3 were affected with Down syndrome, and an underlying Mendelian disease was present in patients 9, 10, 11 and 14 (familial platelet disorder with propensity to acute myelogenous leukaemia, and Kostmann disease). Patients 1, 8, 9, 10, 11, 17 and 18 were reported in detail. Chromosome analyses were part of the routine work made for clinical purposes, and were performed on BM direct preparations and 24–48 h cultures, and on peripheral blood (PB) unstimulated 24–48 h cultures with routine techniques. QFQ-banding technique was applied. The entire cohort of patients was used to investigate the parental origin of the missing chromosome 7. DNA was extracted with routine techniques from the same material drawn for the chromosome analyses showing the monosomy 7, and from the peripheral blood of both parents of each patient; it was genotyped selecting at least five short tandem repeats, scattered along the entire chromosome 7. All methods were as described previously.1 Fluorescence in situ hybridization (FISH) on interphase nuclei was carried out on BM and PB preparations by standard procedures with a chromosome 7-specific alphoid centromeric probe (courtesy of Professor M Rocchi, Cytogenetic Unit, University of Bari, Italy – Resources for Molecular Cytogenetics) to quantify cells with monosomy 7.

Table 1 Characteristics of the patients included in the study and parental origin of the missing chromosome 7
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Acknowledgements

GP, EM, FL and FP were supported by grants from MIUR (Ministero dell'Università e della Ricerca); GP and FL were supported by grants from European Community (FP7) and FL from AIRC (Associazione Italiana Ricerca sul Cancro), CNR (Consiglio Nazionale delle Ricerche), and Fondazione IRCCS (Istituto di Ricovero e Cura a Carattere Scientifico) Policlinico S Matteo.

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  1. Dipartimento di Scienze Biomediche Sperimentali e Cliniche, Università dell'Insubria, Varese, Italy

    G Porta, E Maserati, E Mattarucchi, B Pressato, R Valli, F Lo Curto & F Pasquali

  2. Genetica Medica, Università di Pavia, Pavia, Italy

    A Minelli & C Danesino

  3. Oncoematologia Pediatrica, Università di Pavia, Fondazione IRCCS Policlinico S Matteo, Pavia, Italy

    M Zecca, M E Bernardo & F Locatelli

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  1. G Porta
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  2. E Maserati
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  12. F Pasquali
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Correspondence to F Pasquali.

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Porta, G., Maserati, E., Mattarucchi, E. et al. Monosomy 7 in myeloid malignancies: parental origin and monitoring by real-time quantitative PCR. Leukemia 21, 1833–1835 (2007). https://doi.org/10.1038/sj.leu.2404708

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