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(Paper co-edited with the European LeukemiaNet)
der(6)t(1;6)(q21;p21) in myelofibrosis following polycythemia vera
Written2010-07Adriana Zamecnikova
Kuwait Cancer Control Center, Department of Hematology, Laboratory of Cancer Genetics, Kuwait
Age and sex : 78 year(s) old female patient.
Previous History : no preleukemia
no inborn condition of note
Organomegaly : hepatomegaly ; splenomegaly ; no enlarged lymph nodes ; no central nervous system involvement
WBC : 45 x 109/L ; Hb : 6.8 g/dL ; platelets : 116 x 109/L; blasts : 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.).
Bone marrow : Normocellular, diffusely fibrotic; small to large atypical megakaryocytes with hyperlobulated nuclei seen; normal erythropoiesis, and granulopoiesis.
Cyto pathology classification
Cytology : Myelofibrosis
Immunophenotype : CD11 95%, CD11c 80%, CD13 100%, CD33 98%, CD15 92%, MPO 82%.
Rearranged Ig Tcr : NA
Pathology : NA
Electron microscopy : NA
Precise diagnosis : Post polycythemic myelofibrosis.
Date of diagnosis: 1998
Treatment : Plebothomy, hydroxyurea
Complete remission : None
Treatment related death : -
Relapse : -
Status : Alive 09-2009
Survival : 12 year(s)
Sample : PB, BM ; culture time : 24 h ; banding : G-banding
Results : 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]
Karyotype at relapse : -
Other molecular cytogenetics technics : -
Other molecular cytogenetics results : -
Other molecular studies
technics : -
results : -
G- banded partial karyotypes of the patient from PB cells, showing the translocation der(6)t(1;6)(q21;p21).
We report a chromosomal translocation der(6)t(1;6)(q21;p21) associated with myelofibrosis following polycytemia vera in a 79 years old female. The patient was diagnosed as having polycythemia vera in 1998 and treated by regular phlebotomy and subsequently with low doses of hydroxyurea. The course of PV was uneventful until 2002 when her myeloproliferative disorder had transformed to myelofibrosis. Due to the unavailability of methods, karyotype analysis and JAK2 V617F analysis was not performed at the time the PV and MF were diagnosed. In 2009 she presented with anemia, fatigue, fever and hepatosplenomegaly. Chromosome analysis performed at that time revealed the karyotypic anomaly 46,XX,der(6)t(1;6)(q21;p21) in bone marrow and blood cultures.
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 ).
Internal links
Atlas Cardder(6)t(1;6)(q21-23;p21)
Karyotypic patterns in chronic myeloproliferative disorders: report on 74 cases and review of the literature.
Mertens F, Johansson B, Heim S, Kristoffersson U, Mitelman F.
Leukemia. 1991 Mar;5(3):214-20. (REVIEW)
PMID 2013980
Cytogenetic abnormalities and their prognostic significance in idiopathic myelofibrosis: a study of 106 cases.
Reilly JT, Snowden JA, Spearing RL, Fitzgerald PM, Jones N, Watmore A, Potter A.
Br J Haematol. 1997 Jul;98(1):96-102.
PMID 9233570
B-cell lymphoma associated with haemophagocytic syndrome: a clinical, immunological and cytogenetic study.
Shimazaki C, Inaba T, Shimura K, Okamoto A, Takahashi R, Hirai H, Sudo Y, Ashihara E, Adachi Y, Murakami S, Saigo K, Fujita N, Nakagawa M.
Br J Haematol. 1999 Mar;104(4):672-9.
PMID 10192425
Marginal zone B-cell lymphomas (MZBL) arising at different sites represent different biological entities.
Ott MM, Rosenwald A, Katzenberger T, Dreyling M, Krumdiek AK, Kalla J, Greiner A, Ott G, Muller-Hermelink HK.
Genes Chromosomes Cancer. 2000 Aug;28(4):380-6.
PMID 10862046
Karyotypic abnormalities in myelofibrosis following polycythemia vera.
Andrieux J, Demory JL, Caulier MT, Agape P, Wetterwald M, Bauters F, Lai JL.
Cancer Genet Cytogenet. 2003 Jan 15;140(2):118-23.
PMID 12645649
Der(6)t(1;6)(q21-23;p21.3): a specific cytogenetic abnormality in myelofibrosis with myeloid metaplasia.
Dingli D, Grand FH, Mahaffey V, Spurbeck J, Ross FM, Watmore AE, Reilly JT, Cross NC, Dewald GW, Tefferi A.
Br J Haematol. 2005 Jul;130(2):229-32.
PMID 16029451
Array-based comparative genomic hybridization characterization of cytogenetically polyclonal myeloid malignancies.
Davidsson J, Heidenblad M, Borg A, Johansson B.
Cancer Genet Cytogenet. 2006 Sep;169(2):179-80.
PMID 16938580
Numerical gain and structural rearrangements of JAK2, identified by FISH, characterize both JAK2617V>F-positive and -negative patients with Ph-negative MPD, myelodysplasia, and B-lymphoid neoplasms.
Najfeld V, Cozza A, Berkofsy-Fessler W, Prchal J, Scalise A.
Exp Hematol. 2007 Nov;35(11):1668-76.
PMID 17976519


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