Zagaria Antonella, Coccaro Nicoletta, Tota Giuseppina, Anelli Luisa, Minervini Angela, Casieri Paola, Cellamare Angelo, Minervini Crescenzio Francesco, Brunetti Claudia, Ricco Alessandra, Orsini Paola, Cumbo Cosimo, Specchia Giorgina, Albano Francesco
Department of Emergency and Organ Transplantation (D.E.T.O.), Hematology Section, University of Bari, 70124 Bari, Italy.
Department of Emergency and Organ Transplantation (D.E.T.O.), Hematology Section, University of Bari, 70124 Bari, Italy.
Blood Cells Mol Dis. 2015 Jan;54(1):51-2. doi: 10.1016/j.bcmd.2014.07.022. Epub 2014 Aug 20.
Patients affected by monoclonal gammopathy of undetermined significance (MGUS) very rarely develop a myelodysplastic syndrome (MDS). However, it was also demonstrated that MGUS patients had a significantly increased risk of developing MDS compared to the general population. We report a case of 5q-syndrome following a MGUS IgMk with mutation of MYD88 L256P. To our knowledge, this is the first case of del(5q) MDS following MGUS IgMk with the MYD88 L256P mutation in which there is coexistence of the markers of the two clonal diseases, but as an expression of distinct pathological features.
意义未明的单克隆丙种球蛋白病（MGUS）患者极少发展为骨髓增生异常综合征（MDS）。然而，也有研究表明，与普通人群相比，MGUS患者发展为MDS的风险显著增加。我们报告一例伴有MYD88 L256P突变的MGUS IgMk后发生5q-综合征的病例。据我们所知，这是首例伴有MYD88 L256P突变的MGUS IgMk后发生del(5q) MDS的病例，其中两种克隆性疾病的标志物共存，但表现为不同的病理特征。
