ADULT B LYMPHOBLASTIC LEUKEMIA WITH A
NOVEL DE NOVO CHROMOSOMAL TRANSLOCATION
[der(9)t(9;12)(p24;q12),-12]: A CASE REPORT
Gadhia PK, Shastri GD, Shastri EG
*Corresponding Author: Professor Pankaj K. Gadhia, Department of Biosciences, Veer Narmad South Gujarat
University, Surat, 395009 Gujarat, India; Mobile: +91-9825163395; E-mail: genecare3@gmail.com
page: 69
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INTRODUCTION
Demonstrable cytogenetic abnormalities are
observed in 70.0-90.0% of cases of acute lymphoblastic
leukemia (ALL). Cytogenetic abnormalities
such as 6q- and 9p- are associated with both
B- and T-lineage ALL, while others are confined
to one lineage or are associated with a specific immunophenotype
within a lineage. Translocations
with breakpoints involving immunoglobulin genes
(heavy chain, κ or λ) are generally B-lineage and
those involving TCR genes are largely confined to
T-lineage ALL [1]. Hyperdiploidy is commonly associated
with B-lineage ALL and is rare in T-lineage
ALL. Precursor B-lympho-blastic leukemia/lymphoma
is a lymphoproliferative disorder of immature
B-cells with blastic morphology, which often
express CD10, CD34, and TdT (clusters of differentiation).
A number of clinical, phenotypic, and
genetic features are prognostically significant in
B-ALL. The major prognostic factors include age,
white blood cell (WBC) count, time of response to
treatment, chromosomal aberrations, minimal residual
disease (MRD) and drug resistance. A better
prognosis is associated with age of <30 years,
WBC count <30 000, t(10;14) and complete remission
within 4 weeks. Factors associated with poor
prognosis include elevated total WBC count (>50.0
×109/L), t(9;22), t(4;11), t(1;19), hypodiploidy, -7,
+8, expression of myeloid antigens such as CD13,
CD33 and persistent MRD.
Case Description. A 36 - year old male presented
with a history of aches and pains over his
whole body, especially marked in joints, lower legs
and both hip joints lasting for 1.5 month. He also
suffered from fatigue and fever. There was no history
of allergies, skin rash, cough, urinary and bowel complaints. He is self-employed in the textile business,
does not smoke, does not have diabetes, no hypertension
and is not an alcoholic. At the time of his
present illness, he was not taking any medications.
Both his parents were healthy, and did not have a
history of major illnesses in the past.
On physical examination he was comfortable.
There was no pallor, jaundice or lymphadenopathy.
Pulse and blood pressure were normal. The heart
and lungs were normal on auscultation, and there
were no murmurs or added sounds. On abdominal
examination, the spleen was enlarged. Neurological
examination did not show any abnormality.
His complete blood counts showed a hemoglobin
(Hb) level of 11.6 g/dL, total leucocyte count
63.0 × 109/L and platelet count 172.0 × 109/L. His
abdominal ultrasound revealed splenomegaly. Serum
bilirubin, alanine transaminase (ALT), alkaline
phosphatase, urea, creatinine, sodium, potassium,
uric acid and blood glucose were within normal limits.
Routine stool examination did not show any ova
or cysts.
His bone marrow examination showed a hyperplastic
marrow, reduced megakaryocytes and 45.0%
blast cells. The blast cell population showed strong
reactivity (>95.0%) with B-cell markers including
CD10, CD19, CD20, CD22 and cCD79a. The blasts
did not show expression of lymphoid T markers
(CD3, 5 and 7) and myeloid markers (CD 13, 33 and
cMPO). The immunophenotype was consistent with
common precursor B-lymphoblastic leukemia. Cytogenetic
analysis revealed the following karyotype:
45,XY,der(9)t(9;12)(p24;q12),-12 [04]/46,XY[16]
(Figure 1).This breakpoint includes rearrangement
of JAK2 (Janus kinase 2) at 9(p24) loci and CPNE8
(Copine-8) at 12(q12) genes with a loss of the 12(p)
region. Protein product of JAK2 is tyrosine kinase
that is involved in signal transduction. Prognosis
related to this protein product is highly variable
and allogeneic stem cell transplantation may be the
only curative treatment. Copine-8 is a member of
the copines. Copines are highly conserved, widely
expressed, calcium-dependent membrane binding
proteins. They may have a role in membrane trafficking
and mediate cellular processes by conferring
calcium regulation to various signaling pathways.
Copine-8 is strongly expressed in brain, heart, and
prostate, while its expression low in most other tissues.
A novel translocation of 12p13 region in adult
B-lymphoblastic leukemia with sever eosinophilia
was reported in 2009 [2], while only three case have
been reported within the 9p24 region on a different
chromosome [3]. A novel case of dic(9;12) involving
the der(9)t(9;22) in the Philadelphia chromosome
positive common B-cell ALL is unique [4],
while only a single case is known of the homozygous
deletion of the 9p21 locus corresponding to the
p16 gene in ALL with eosinophilia [5].
The proband was started on induction therapy
based on UK ALL XII consisting of a four drugs
regimen, which included Inj (injectable) vincristine;
Inj daunorubicin; tab (tablets) prednisolone and Inj
asparaginase. However, he failed to achieve remission
after induction therapy.
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