GTW

46,X,t(X;20)(q13;q13.3)[27]/46,XX[3]

FIGURE 1: Partial G-banded Karyotype showing t(X;20)(q13;13.3)

TECHNICS : FISH with probe CEP X (DXZ1) SpectrumOrange (Vysis). Abbott Molecular, Des Planes, IL, USA.

RESULTS : X-centromere probe DXZ1 hybridized to the normal X and the derivative X.

Figure 2: FISH of a metaphase spread with CEPX

We present a new case of t(X;20)(q13;q13.3) in a 86 years old female patient with myelodysplastic syndrome. This abnormality is a rare nonrandom translocation associated with myeloid disorders (Reddy et al., 2005¹).

To our knowledge 9 cases have been reported in the literature, all of them were described in female adults with an age range of 57 to 81 years (median age, 69 yr). The translocation was found as a sole abnormality in 3 primary MDS, 1 MPD and in 1 patient with pancytopenia. It was found in association with +8 in 1 primary MDS and with +8, +9 and del(13)(q21) in 1 therapy-related MDS. It was also associated with der(1;7)(q10;p10) in 1 AML. Finally, in 1 MDS it was found as a secondary chromosome abnormality following a del(5)(q13q31) (Michaux et al., 1995²; Gray et al., 2003³; Reddy et al., 2005¹; Ou2019Reilly et al., 2005⁴; Figueiredo et al., 2013 doi 10.4267/2042/51053). Herein, we report a new case of t(X;20)(q13;q13.3) in a 86 years old female patient with MDS.

The finding of t(X;20)(q13;q13.3) in this short series suggests that this rare translocation might play a pathogenetic role in hematologic disorders, especially in myeloid malignancy, in elderly females. Potential mechanisms may involve epigenetic factors, inactivation of a tumor suppressor gene and the formation of a hybrid fusion gene. Further molecular studies of the breakpoints and X-inactivation status are required to understand the molecular events involved in the pathogenesis of these diseases.