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(Paper co-edited with the European LeukemiaNet)
der(1;18)(q10;q10) in a patient with AML following essential thrombocythemia
Written2013-06Adriana Zamecnikova, Soad Al Bahar, Ramesh Pandita
Kuwait Cancer Control Center, Dep of Hematology, Laboratory of Cancer Genetics, Kuwait
Age and sex : 52 year(s) old female patient.
Previous History : no preleukemia
no previous malignant disease
no inborn condition of note
Organomegaly : hepatomegaly ; splenomegaly ; no enlarged lymph nodes ; no central nervous system involvement
WBC : 3.9 x 109/L ; Hb : 7.7 g/dL ; platelets : 168 x 109/L; blasts : 8 % .
Bone marrow : 20% myeloblasts
Cyto pathology classification
Cytology : AML following essential thrombocythemia
Immunophenotype : of the blast cells performed by flowcytometry was positive for CD7 (46%), CD13 (80%), CD15 (58%), CD33 (49%), CD34 (50%), CD45 (68%), and HLDR (76%).
Rearranged Ig Tcr : Not done.
Pathology : Bone marrow biopsy shows moderate to marked fibrosis with fibroblastic proliferation involving all marrow spaces, there is marked megakaryocytic hyperplasia, few lymphoid cells mixed with erythroid precursors. The megakaryocytes are variable in morphological appearance, many mononuclear and few with hyperlobulated nuclei and are distributed singly or in tiny clusters. The normal erythroid and granulocytic cell lines are suppressed.
Electron microscopy : Not done.
Precise diagnosis : ET transformed to AML.
Date of diagnosis: 03-2012
Treatment : Allogeneic bone marrow transplant on 11/07/2012
Complete remission was obtained
Comments : after BMT
Treatment related death : -
Relapse : -
Status : Alive 11-2012
Survival : 12 month(s)
Sample : Bone marrow, peripheral blood ; culture time : 24 h, , direct ; banding : G-banding
Results : 46,XX,+1,der(1;18)(q10;q10),del(20)(q11q13) [20] bone marrow; 46,XX,+1,der(1;18)(q10;q10),del(20)(q11q13) [20] blood
Other molecular cytogenetics technics : Fluorescence in situ hybridization applying the LSI D20S108, LSI 1p36/1q25 and LSI MALT1 Break Apart probes (Abbott).
Other molecular cytogenetics results : One signal of D20S108 and 3 signals 1q25 in 80% of bone marrow cells.
(A) Partial karyotype of the patient showing a whole-arm chromosome translocation between chromosomes 1 and 18 associated with a 20q deletion. (B) C-banded metaphase showing the der(1;18)(q10;q10) (arrow). (C) Fluorescence in situ hybridization studies with LSI D20S108 (Abbott) and LSI MALT1 Break Apart (Abbott) probes showing the loss of a D20S108 signal and the presence of a MALT1 signal on the der(1;18)(q10;q10). (D) Hybridization with LSI 1p36/1q25 and LSI 20q12 probes showing one red (20q12) signal on chromosome 20 and an extra green signal for 1q25 on the der(1;18)(q10;q10).
A 52-years old female patient, with a history of thrombocythemia of 2 years duration was presented with symptomatic anemia and hepatosplenomegaly on March, 2012. Blood film showed evidence of leukoerythroblastic picture with 8% blast cells and bone marrow biopsy confirmed myelofibrosis with megakaryocytic hyperplasia demonstrated the presence of 20% myeloblast cells. Conventional cytogenetic analysis of blood and bone marrow samples revealed a rare chromosome abnormality: der(18)t(1;18)(q10;q10) associated with a deletion of the long arm of chromosome 20 in all metaphases.
Unbalanced translocations involving the long arm of chromosome 1 are recurrent chromosome aberrations in patients with various myeloid neoplasms, including myeloproliferative disorders. The centromeric fusion between chromosomes 1 and 18, leading to a normal chromosome 18 substituted with a der(1;18) chromosome observed in our patient has been described in only 5 patients. 4 patients were diagnosed with chronic myeloproliferative disorders (MPD) and 1 patient with complex karyotype with multiple myeloma. Among the 4 patients with MPD, additional chromosome anomaly was detected only in 1 patient (+22), indicating that the der(1;18)(q10;q10) is a primary chromosome anomaly in myeloproliferative disorders. However; as deletion of the long arm of chromosome 20 is a known primary anomaly in myeloid disorders, we cannot exclude the possibility that the der(1;18)(q10;q10) is a secondary anomaly in our case; possibly involved in disease transformation. The unbalanced nature of the rearrangement indicates that gain of 1q and/or loss of 18p might be pathogenetically relevant for neoplastic transformation in this group of patients.
Internal links
Multiple chromosomal changes and karyotypic evolution in a patient with myelofibrosis.
Trautmann U, Rubbert A, Gramatzki M, Henschke F, Gebhart E.
Cancer Genet Cytogenet. 1992 Jul 1;61(1):6-10.
PMID 1638481
Derivative (1;18)(q10;q10): a recurrent and novel unbalanced translocation involving 1q in myeloid disorders.
Wan TS, Ma SK, Au WY, Chan LC.
Cancer Genet Cytogenet. 2001 Jul 1;128(1):35-8.
PMID 11454427
Secondary genomic rearrangements involving immunoglobulin or MYC loci show similar prevalences in hyperdiploid and nonhyperdiploid myeloma tumors.
Gabrea A, Martelli ML, Qi Y, Roschke A, Barlogie B, Shaughnessy JD Jr, Sawyer JR, Kuehl WM.
Genes Chromosomes Cancer. 2008 Jul;47(7):573-90. doi: 10.1002/gcc.20563.
PMID 18381641
Cytogenetic studies at diagnosis in polycythemia vera: clinical and JAK2V617F allele burden correlates.
Gangat N, Strand J, Lasho TL, Finke CM, Knudson RA, Pardanani A, Li CY, Ketterling RP, Tefferi A.
Eur J Haematol. 2008 Mar;80(3):197-200. Epub 2007 Dec 7.
PMID 18081705
Derivative (1;18)(q10;q10) in essential thrombocythemia.
Azuma T, Yamanouchi J, Inoue K, Kohno M, Narumi H, Fujiwara H, Yakushijin Y, Hato T, Yasukawa M.
Cancer Genet Cytogenet. 2010 May;199(1):62-4. doi: 10.1016/j.cancergencyto.2010.02.001.
PMID 20417872


This paper should be referenced as such :
Zamecnikova A, Al Bahar S, Pandita R
der(1;18)(q10;q10) in a patient with AML following essential thrombocythemia
Atlas Genet Cytogenet Oncol Haematol. in press
On line version :

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