A case of Acute Lymphoblastic Leukemia with rare t(11;22)(q23;q13)

Jill D Kremer, Anwar N Mohamed  

Cytogenetics Laboratory, Pathology Department, Wayne State University School of Medicine, Detroit Medical Center, Detroit MI, USA

Previous history

Preleukaemia
-
Malignant disease
-
Inborn condition
+ Patient has hemoglobin S trait

Clinics case report

Age
14 mths
Sex
M
Liver
+
Spleen
+
Lymph nodes
+
Cns involv
+

Blood data

Wbc
33
Hb
2.6
Platelets
1
Blasts
72
Bone marrow
100 bone marrow blast replacement

Cyto path

Cytology
Acute lymphoblastic leukemia (ALL) with L1 morphology
Immunophenotype
Flow cytometry of bone marrow aspirate identified a dim CD45 lymphoblast population (85%) expressing HLA-DR, CD19 and partially expressing CD10, CD22, CD9 and CD40.
Rearranged ig tcr
Not performed.
Pathology
Bone marrow aspirate appeared hypocellular with 95% lymphoblasts of L1 morphology, 2% myeloid series, and 3% erythroid series.
Electron microscopy
Not performed.
Precise diagnosis
CD34 negative B-precursor ALL.

Survival data

Date diagnosis
01-2011
Treatment
Methotrexate, Cytarabine, Vincristine, Dexamethasone, PEG-aspargase
Complete remission
-
Treatment relat death
-
Relapse
-
Status
A
Date last follow
10-2011
Survival
9

Karyotype

Sample
Bone marrow aspirate
Culture time
24 without stimulant and 48hr with 10% conditioned medium
Banding
GTG
Results
46,Y,der(X)t(X;9)(p11.1;q11),add(9)(q11),t(11;22)(q23;q13)[20] (see Figure 1). Post induction bone marrow study demonstrated a normal 46,XY karyotype.

Other molec studies

Technics
Fluorescence in situ hybridization (FISH) using the ALL panel DNA probes including CEP 4, 10, and 17 alpha satellite probes, LSI MLL dual-color break apart probe, BCR/ABL and TEL/AML1 dual-fusion translocation probes was performed (Abbott Molecular, Downers Grove, IL).
Results
Hybridization with MLL probe produced a split/translocation pattern in 61% of interphase cells. Metaphase FISH showed that the telomeric region of MLL gene was translocated to 22q13 distal to BCR (Figure 2). The hybridization with the BCR/ABL probe showed two signals each (unfused), however on a previously G-banded metaphase it appeared that the BCR signals remained on chromosome 22 while one ABL signal was translocated to der(X). The remaining probes produced a normal hybridization pattern.

Images

Atlas Image
Figure 1: G-banded karyotype showing 46,Y,der(X)t(X;9)(p11.1;q11),add(9)(q11),t(11;22)(q23;q13). Arrows pointed to t(11;22).
Atlas Image
Figure 2: FISH. A. Interphase hybridized with LSI MLL dual-color break apart probe showed a split signal pattern of MLL (1O1G1F). B. Metaphase hybridized with BCR/ABL dual-fusion probe showed 2O2G signaling. C. For identification of chromosome 22, the same metaphase subsequently hybridized with LSI MLL probe showing relocation of the telomeric side (orange signal) of MLL to 22q confirming t(11;22)(q23;q13) (arrows). Note: G= green; O= orange; F= fusion.

Comments section

Comments

Bibliography

Pubmed IDLast YearTitleAuthors
93896841997Adenoviral E1A-associated protein p300 is involved in acute myeloid leukemia with t(11;22)(q23;q13).Ida K et al
187783672008A complex t(1;22;11)(q44;q13;q23) translocation causing MLL-p300 fusion gene in therapy-related acute myeloid leukemia.Ohnishi H et al
209800532011Novel variant form of t(11;22)(q23;q13)/MLL-EP300 fusion transcript in the evolution of an acute myeloid leukemia with myelodysplasia-related changes.Duhoux FP et al

Citation

Jill D Kremer, Anwar N Mohamed

A case of Acute Lymphoblastic Leukemia with rare t(11;22)(q23;q13)

Atlas Genet Cytogenet Oncol Haematol. 2011-10-01

Online version: http://atlasgeneticsoncology.org/case-report/208857/a-case-of-acute-lymphoblastic-leukemia-with-rare-t(11;22)(q23;q13)