14 research outputs found
Infantile acute megakaryoblastic leukaemia with T(1:22) in a non-down syndrome child.
Megakaryoblastic leukaemia is the commonest form of leukaemia occuring in Down syndrome infants. However, it’s subtype with translocation t(1;22)(p13;q13)is uncommon comprising <1% of all cases and reported to exclusively occur in infant without Down syndrome. It has a female predominance and carries apoor prognosis. We described this rare form of leukaemia in a 9-month-old girl
who presented with bruises, massive hepatosplenomegaly and multiple cervical and inguinal lymphadenopathy. The blood film showed severe anaemia with
ovalostomatocytosis, thrombocytopenia and mild leucocytosis. The bone marrow
aspirate showed numerous blasts showing high nuclear-cytoplasmic ratio and
agranular cytoplasm with cytoplasmic blebs. Peroxidase staining was negative. The
immunophenotyping of the blasts showed positive expression of CD117, CD13, CD33
and CD61 which confirmed the diagnosis of acute megakaryoblastic leukaemia.
Interestingly, the cytogenetic finding of translocation t(1;22) which is most common in acute megaloblastic leukaemia in infants without Down syndrome was found in this case. She received the AML trial 15 ADE protocol chemotherapy regime and developed severe neutropenic sepsis and respiratory distress requiring ventilatory
support and granulocyte colony stimulating factor (G-CSF). She recovered wellmafter the first course of chemotherapy and was discharged. Unfortunately, she was not brought in for follow-up chemotherapy and presented a few months later with relapsed AML. She was re-started on ADE protocol and currently is on oral thioguanine for maintenance therapy
Idiopathic hypereosinophilic syndrome with unusual presentation : two case reports and review of literature
Idiopathic hypereosinophilic syndrome (HES) is an uncommon disorder which
usually presents with prolonged and significant primary eosinophilia with end-organ dysfunction. Damaging proteins released by the eosinophilic granules are
responsible for the tissues and organ system damage. Here we report two cases
of idiopathic HES. Both the patients were young lady presented with high grade
fever and concomitant symptoms. Laboratory findings showed leucocytosis with
predominant neutrophilia and marked eosinophilia. A diagnosis of idiopathic HES
was made after excluding secondary causes of eosinophilia. However, the first
patient was complicated with multiple venous thrombosis and intravenous heparin
was started which was later changed to subcutaneous low molecular weight
heparin (LMWH). The patient developed pleural effusion and consolidation.
Intravenous Tazoscin, tablet Prednisolone and tablet Hydroxyurea was started
and the patient responded well. Despite treatment, two weeks later, suddenly the
patient collapsed and unfortunately succumbed. On the other hand, the second
patient was complicated with fever, thrombocytopenia, haemolytic anaemia, acute
renal failure and neurological deficit which were part and parcel of thrombotic
thrombocytopenic purpura (TTP). Plasma exchange was commenced and patient’s
condition had slowly improved. Nevertheless, the hypoxia which she sustained
during the multiple episodes of fits had resulted in permanent brain injury and thus
requiring a tracheostomy for prolonged ventilatory support. Currently, there is no
cure for HES. The main aim of treatment is to minimise the tissue damage caused
by the hypereosinophilia. Early diagnosis and intervention are therefore crucial in
preventing the spread of the disease and the end-organ damage
LTA + 252A > G polymorphism is associated with risk of nasal NK/T-cell lymphoma in a Chinese population: a case-control study
Minimal residual disease status in childhood acute lymphoblastic leukaemias by flow cytometry and their clinical and haematological features
Primary Thyroid Lymphoma: two different presentations of a rare disease
Primary thyroid lymphoma is a rare disorder accounting for about 2% of all malignant
lymphomas and less than 5% of thyroid malignancies. It is an aggressive disease with
poor outcome. The majority of thyroid lymphomas are non-Hodgkin lymphomas of Bcell
origin. Majority of cases occur in women in the sixth decade. We report two cases
of primary thyroid lymphoma and highlight the clinical issues and challenges posed by
this rare disease. Both cases presented with respiratory obstructive symptoms that
required surgical intervention. The optimal management for a primary thyroid lymphoma
be it chemotherapy, radiotherapy, surgery or monoclonal antibodies is still debatable.
The role for surgery has evolved through the years but its importance in
emergency situations should not be overlooked. Both our patients had to undergo surgery
but only one patient received additional chemotherapy and radiotherapy. These
two case reports illustrated the difficulties in managing this rare disorder
Early lineage switch from T-acute lymphoblastic leukaemia to common B-all.
Leukaemic stem cells have heterogenous differentiation potential. The immunophenotypes of blast cells are usually consistent throughout the disease course even at relapse. Rarely, blast cells may undergo a ‘lineage switch’ during the course of disease especially during relapse. We would like to highlight such a case in a 10-year old boy who presented with a two weeks history of lethargy, poor appetite, low grade fever, respiratory distress, cardiac failure, generalized oedema and hepatosplenomegaly. Full blood count showed a leucocyte count of 41.5x109/L and platelet count of 37x109/L. The peripheral blood film showed presence of numerous blast cells. Bone marrow aspiration revealed a hypercellular marrow, which consisted of mainly blast cells with high nuclear to cytoplasmic ratio and inconspicuous nucleoli. Immunophenotyping and cytochemistry results were consistent with the diagnosis of T-cell acute lymphoblastic leukaemia. The patient achieved remission after treatment with UK ALL 97 protocol, regime B chemotherapy. However, he relapsed seven months after the initial diagnosis with 26% blast cells in the bone marrow aspirate. The majority was L1 blast cells admixed with some L2 blast cells. Immunophenotyping was consistent with common precursor B acute lymphoblastic leukaemia. The treatment was changed to a more lineage specific chemotherapy. Nonetheless, the patient never achieved remission and was planned for palliative management. This case illustrated a unique and rare case of rapid lineage switch from T-cell acute lymphoblastic leukaemia to common precursor B-cell acute lymphoblastic leukaemia
Detection of BCR/ABL gene in chronic Myeloid Leukaemia: comparison of Fluorescence in situ Hybridisation (FISH), conventional Cytogenetics and Polymerase Chain Reaction (PCR) techniques
The reciprocal translocation t(9;22)(q34;q11) which gives rise to the Philadelphia (Ph1) chromosome and BCR/ABL fusion gene, plays a pivotal role in the diagnosis and pathogenesis of chronic myeloid leukemia (CML). In this study, we evaluated the role of fluorescence in situ hybridisation (FISH) in detecting the BCR/ABL rearrangement in CML patients. The sensitivity, specificity and detection rate of BCR/ABL gene using FISH, PCR and conventional cytogenetics (karyotyping) methods were also compared. 18 bone marrow samples of patients with clinically diagnosed CML and suspected of CML were collected. The sensitivity, specificity and positive predictive values of FISH were altogethe
Effect of higher centrifugation speed and shortened centrifugation time on prothrombin and activated thromboplastin time
Biphenotypic acute leukemia: a report of two cases
We report two cases of biphenotypic acute leukaemia diagnosed in Hospital Universiti Kebangsaan Malaysia (HUKM), their clinical, haematological characteristics and response to chemotherapy. Both patients are middle-aged ladies who presented with hepatosplenomegaly and high white cell count, mainly composed of blast cells. Their bone marrow aspirations were hypercellular comprising of more than 90% heterogenous blast cells. Cytochemical analyses show more than 3% positivity towards peroxidase, with smaller blasts showing block positivity towards PAS. Immunophenotypically, the blasts showed dual expression of CD 33 and CD 19, CD 19 and CD34, intra CD22, intra TdT and intraMPO. One of the patients showed presence of the Philadelphia chromosome on cytogenetic analysis which was confirmed by Fluorecsence In Situ Hybridisation (FISH). Molecular analysis also showed presence of the BCR-ABL fusion protein. Both patients were given combination chemotherapy consisting of daunorubicin and cytosine arabinoside.However, the patient with positive Philadelphia chromosome BCR-ABL did not achieve morphological remission after induction chemotherapy. In view of the poor prognosis of this disease, both the patients were planned for upfront peripheral blood stem cell transplantatio