-

+

-

Polycythemia vera

78 yrs

F

+

+

-

-

45

6.8

116

2% (neutrophils 82%, lymphocytes 9%, monocytes 7%, eosinophils 2%). RBC 5.69x10⁹/L, MCHC 310x10⁹/L, RDW 25.9% Smear left shift, platelet clumps, giant platelets, occasional blast cells and few tear drop cells seen.

Normocellular, diffusely fibrotic; small to large atypical megakaryocytes with hyperlobulated nuclei seen; normal erythropoiesis, and granulopoiesis.

Myelofibrosis

CD11 95%, CD11c 80%, CD13 100%, CD33 98%, CD15 92%, MPO 82%.

NA

NA

NA

Post polycythemic myelofibrosis.

1998

Plebothomy, hydroxyurea

NA

-

-

A

09-2009

12y+

PB, BM

24

G-banding

PB 46,XX [5]/46,XX,der(6)t(1;6)(q21;p21) [25] ; BM 46,XX,der(6)t(1;6)(q21;p21) [20]

-

-

-

-

-

Described as a balanced translocation t(1;6)(q21;p21) in 1 AML case in a 35 years old female with normal karyotype at diagnosis and with cytogenetic polyclonality at relapse (Davidsson et al., 2006) and in 1 case of nodal marginal zone B-cell lymphoma (Ott et al., 2000). More frequently observed as an unbalanced translocation der(6)t(1;6)(q21;p21) resulting in partial trisomy for 1q21 to 1qter, and in loss of 6p21 to 6pter. From the 9 described cases (Najfeld et al., 2007; Shimazaki et al., 1999; Dingli et al., 2005) with der(6)t(1;6)(q21;p21), 8 patients (4 males, 4 females) had myelofibrosis with myeloid metaplasia (Najfeld et al., 2007; Dingli et al., 2005). In addition, several studies have reported heterogeneous 1q and 6p breakpoints resulting in common trisomic region of 1q21-32 and haplo-insufficiency of gene(s) from different chromosome 6p breakpoints suggesting that gain of gene(s) at 1q21-32 and/or loss of gene(s) from 6p21-6pter may be relevant to the pathogenesis. Our case, together with previously published data demonstrates the association of this rare chromosomal anomaly with primary myeloproliferative disease transformed to myelofibrosis (Dingli et al., 2005, Mertens et al., 1991, Reilly et al., 1997; Andrieux et al., 2003 ).