|Disease|| Acute lymphoblastic leukemia (ALL) and myeloid malignancies are described in cases of t(12;13)(p13;q12).|
|Note|| The translocation t(12;13)(p13;q12) is molecularly heterogeneous: |
The t(12;13)(p13;q12) with ETV6 and FLT3 involvement, herein described, was found in only one case so far, a case of myeloproliferative disorder (MPD) with eosinophilia (Vu et al., 2006).
On the other hand, a t(12;13)(p13;q12) ETV6 / CDX2 has been described in another case (Chase et al., 1999).
Finally, other cases of t(12;13)(p13;q12) without molecular ascertainment may or may not involve FLT3, CDX2, or even ETV6.
|Epidemiology|| All together, nine cases of t(12;13)(p13;q12) were descibed:|
|Clinics|| The t(12;13)(p13;q12) ETV6/FLT3 case was a female patient aged 68 years, with a MPD with eosinophilia; she died 21 months after diagnosis. Another case presents with a similar phenotype: a 49 year-old male patient, also with a MDP with eosinophilia; he died 11 months after diagnosis (and with a history of leukocytosis for last two years before diagnosis) (Chiyoda et al., 1994). |
The case with ETV6/CDX2 involvement was a 66 year old male patient with M1 acute myeloid leukaemia (AML); he died 40 months after diagnosis.
The six other known patients with a t(12;13)(p13;q12) were two children and one 17 year-old female patient with acute lymphoblastic leukemia (ALL) (Keene et al., 1987; Wlodarska et al., 1998; Heerema et al., 2000) and three adult patients with myeloid diseases (one refractory anemia with excess of blasts (RAEB) and two AMLs; one of which was a treatment-related AML (t-AML)) (Knapp et al., 1985; Tosi et al., 1998; Clavio et al., 2001).
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| Abnormalities of chromosome 12p13 and malignant proliferation of eosinophils: a nonrandom association.|
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| FLT3 is fused to ETV6 in a myeloproliferative disorder with hypereosinophilia and a t(12;13)(p13;q12) translocation.|
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