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Constitutional trisomy 8 mosaicism in primary myelofibrosis: relevance to clinical practice and warning for trisomy 8 studies

2007; Elsevier BV; Volume: 179; Issue: 1 Linguagem: Inglês

10.1016/j.cancergencyto.2007.08.006

1873-4456

Emanuela Maserati, Barbara Pressato, Roberto Valli, Francesco Patitucci, Francesco Lo Curto, Francesco Pasquali, Antonella Minelli, Cesare Danesino, Monia Marchetti, Giovanni Barosi,

Chronic Myeloid Leukemia Treatments

Trisomy 8 is one of the most frequent chromosome changes in cases of acute myeloid leukemia (AML), myelodysplastic syndrome (MDS), chronic myeloproliferative disorders, and acute lymphoblastic leukemia [ [1] Huret JL. +8 or trisomy 8. In: Atlas of genetics and cytogenetics in oncology and haematology [Internet]. Updated November 1998. Available at: http://AtlasGeneticsOncology.org/Anomalies/tri8ID1017.html. Google Scholar ]. We have demonstrated that patients in whom a trisomy 8 is interpreted as an acquired clonal anomaly of the dysplastic or neoplastic cells may in fact represent unrecognized cases of constitutional trisomy 8 mosaicism (CT8M) [ [2] Seghezzi L. Maserati E. Minelli A. Dellavecchia C. Addis P. Locatelli F. Angioni A. Balloni P. Miano C. Cavalli P. Danesino C. Pasquali F. Constitutional trisomy 8 as first mutation in multistep carcinogenesis: clinical, cytogenetic, and molecular data on three cases. Genes Chromosomes Cancer. 1996; 17: 94-101 Crossref PubMed Scopus (53) Google Scholar ]. We then postulated that the frequency of CT8M in hematological malignancies is ∼15–20%; this result was based on a retrospective analysis of 14 cases, and the percentage may be underestimated [ [3] Maserati E. Aprili F. Vinante F. Locatelli F. Amendola G. Zatterale A. Milone G. Minelli A. Bernardi F. Lo Curto F. Pasquali F. Trisomy 8 in myelodysplasia and acute leukemia is constitutional in 15–20% of cases. Genes Chromosomes Cancer. 2002; 33: 93-97 Crossref PubMed Scopus (74) Google Scholar ]. Here we report a further case of CT8M unexpectedly discovered in a patient with primary myelofibrosis (PMF) [ [4] Mesa R.A. Verstovsek S. Cervantes F. Barosi G. Reilly J.T. Dupriez B. Levine R. Le Bousse-Kerdiles M.-C. Wadleigh M. Campbell P.J. Silver R.T. Vannucchi A.M. Deeg H.J. Gisslinger H. Thomas D. Odenike O. Solberg L.A. Gotlib J. Hexner E. Nimer S.D. Kantarjian H. Orazi A. Vardiman J.W. Thiele J. Tefferi A. International Working Group for Myelofibrosis Research and Treatment (IWG-MRT). Primary myelofibrosis (PMF), post polycythemia vera myelofibrosis (post-PV MF), post essential thrombocythemia myelofibrosis (post-ET MF), blast phase PMF (PMF-BP): consensus on terminology by the International Working Group for Myelofibrosis Research and Treatment (IWG-MRT). Leuk Res. 2007; 31: 737-740 Abstract Full Text Full Text PDF PubMed Scopus (240) Google Scholar ], because this observation leads to considerations of practical relevance.