der(1;18)(q10;q10) in a patient with AML following essential thrombocythemia

Adriana Zamecnikova, Soad Al Bahar, Ramesh Pandita  

Kuwait Cancer Control Center, Dep of Hematology, Laboratory of Cancer Genetics, Kuwait

Previous history

Preleukaemia
-
Malignant disease
-
Inborn condition
-

Clinics case report

Age
52 yrs
Sex
F
Liver
+
Spleen
+
Lymph nodes
-
Cns involv
-

Blood data

Wbc
3.9
Hb
7.7
Platelets
168
Blasts
8
Bone marrow
20% myeloblasts

Cyto path

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.

Survival data

Date diagnosis
03-2012
Treatment
Allogeneic bone marrow transplant on 11/07/2012
Complete remission
+ after BMT
Treatment relat death
-
Relapse
-
Status
A
Date last follow
11-2012
Survival
12 +

Karyotype

Sample
Bone marrow, peripheral blood
Culture time
24, 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
Mol cytogenet technics
Fluorescence in situ hybridization applying the LSI D20S108, LSI 1p36/1q25 and LSI MALT1 Break Apart probes (Abbott).
Mol cytogenet results
One signal of D20S108 and 3 signals 1q25 in 80% of bone marrow cells.

Images

Atlas Image
(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).

Comments section

Comments
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.

Bibliography

Pubmed IDLast YearTitleAuthors
16384811992Multiple chromosomal changes and karyotypic evolution in a patient with myelofibrosis.Trautmann U et al
114544272001Derivative (1;18)(q10;q10): a recurrent and novel unbalanced translocation involving 1q in myeloid disorders.Wan TS et al
183816412008Secondary genomic rearrangements involving immunoglobulin or MYC loci show similar prevalences in hyperdiploid and nonhyperdiploid myeloma tumors.Gabrea A et al
180817052008Cytogenetic studies at diagnosis in polycythemia vera: clinical and JAK2V617F allele burden correlates.Gangat N et al
204178722010Derivative (1;18)(q10;q10) in essential thrombocythemia.Azuma T et al

Citation

Adriana Zamecnikova, Soad Al Bahar, Ramesh Pandita

der(1;18)(q10;q10) in a patient with AML following essential thrombocythemia

Atlas Genet Cytogenet Oncol Haematol. 2013-06-01

Online version: http://atlasgeneticsoncology.org/case-report/208867/der(1;18)(q10;q10)-in-a-patient-with-aml-following-essential-thrombocythemia