1.A four-point clinical criteria distinguishes immune thrombocytopenia from acute lymphoblastic leukaemia
Su Han Lum ; Shi Jie How ; Hany Ariffin ; Shekhar Krishnan
The Medical Journal of Malaysia 2016;71(1):28-29
Immune thrombocytopenia is the most common diagnosis
of isolated thrombocytopenia. The dilemma encountered by
paediatricians is missing diagnosis of acute leukaemia in
children with isolated thrombocytopenia. We demonstrated
childhood ITP could be diagnosed using a four point clinical
criteria without missing a diagnosis of acute leukaemia.
Hence, bone marrow examination is not necessary in
children with typical features compatible with ITP prior to
steroid therapy. This can encourage paediatricians to
choose steroid therapy, which is cheaper and non-blood
product, as first line platelet elevating therapy in children
with significant haemorrhage.
Thrombocytopenic
2.Validation of a multiplex RT-PCR assay for screening significant oncogene fusion transcripts in children with acute lymphoblastic leukaemia.
Hany ARIFFIN ; S P CHEN ; H-L WONG ; A YEOH
Singapore medical journal 2003;44(10):517-520
In childhood acute lymphoblastic leukaemia (ALL), cytogenetics play an important role in diagnosis, allocation of treatment and prognosis. Conventional cytogenetic analysis, involving mainly karyotyping in our experience, has not been successful in a large proportion of cases due to inadequate metaphase spreads and poor chromosome morphology. Our aim is to develop a highly sensitive and specific method to screen simultaneously for the four most frequent fusion transcripts resulting from specific chromosomal translocations, namely, both the CML- and ALLtype BCR-ABL transcripts of t(9;22), E2A-PBX1 transcript of t(1;19), the MLL-AF4 transcript of t(4;11) and TEL-AML1 (also termed ETV6-CBFA2) of the cryptic t(12;21). A multiplex reverse transcription polymerase chain reaction protocol (RT-PCR) was developed and tested out on archival bone marrow samples and leukaemia cell lines. In all samples with a known translocation detected by cytogenetic techniques, the same translocation was identified by the multiplex-PCR assay. Multiplex RT-PCR assay is an effective, sensitive, accurate and cost-effective diagnostic tool which can improve our ability to accurately and rapidly risk-stratify patients with childhood ALL.
Child
;
Humans
;
Oncogene Proteins, Fusion
;
genetics
;
Precursor Cell Lymphoblastic Leukemia-Lymphoma
;
genetics
;
Reverse Transcriptase Polymerase Chain Reaction
;
methods
;
Translocation, Genetic
3.Posterior reversible encephalopathy syndrome: Malaysian haemato-oncological paediatric case series
Choong Yi Fong ; Chaw Su Hlaing ; Aye Mya Min Aye ; Chee Geap Tay ; Hany Ariffin ; Lai Choo Ong
Neurology Asia 2015;20(3):275-281
Background & Objective: Posterior reversible encephalopathy syndrome (PRES) is associated with
immunosuppressive agents used in children with haemato-oncological diseases. There are no reports
to date from the South Asia and South East Asia region. We report a Malaysian tertiary centre case
series of children with haemato-oncological disease who developed PRES. Methods: Retrospective
study of children seen with haemato-oncology diseases seen at the University Malaya Medical Centre
Kuala Lumpur who developed PRES from 2011 – 2013. Clinical details were obtained from medical
records and brain neuroimaging was reviewed. Results: Five patients met the inclusion criteria. All
5 patients had significant hypertension acutely or subacutely prior to neurology presentation. Four
presented with acute seizures and the remainder 1 presented with encephalopathy.Three patients
were on chemotherapy, 1 had renal impairment and 1 had prior immunosupression for bone marrow
transplantation. A full recovery was seen in 4 patients and 1 patient had mild residual quadriplegia.
Conclusion: Our case series expands the clinico-radiological spectrum of PRES in children with
underlying haemato-oncological disorders. It is the first to show that prior cyclosporin intake as long
as 2 months is a potential risk factor for PRES. Clinicians need to be vigilant for development of
PRES and closely monitor the blood pressure in these children who are receiving or recently had
immunosuppressive drugs and present with acute neurological symptoms.
Posterior Leukoencephalopathy Syndrome
;
Brain Diseases
5.GATA1 mutations in a cohort of Malaysian children with Down syndrome-associated myeloid disorder.
Su Han LUM ; Soo Sin CHOONG ; Shekhar KRISHNAN ; Zulqarnain MOHAMED ; Hany ARIFFIN
Singapore medical journal 2016;57(6):320-324
INTRODUCTIONChildren with Down syndrome (DS) are at increased risk of developing distinctive clonal myeloid disorders, including transient abnormal myelopoiesis (TAM) and myeloid leukaemia of DS (ML-DS). TAM connotes a spontaneously resolving congenital myeloproliferative state observed in 10%-20% of DS newborns. Following varying intervals of apparent remission, a proportion of children with TAM progress to develop ML-DS in early childhood. Therefore, TAM and ML-DS represent a biological continuum. Both disorders are characterised by recurring truncating somatic mutations of the GATA1 gene, which are considered key pathogenetic events.
METHODSWe herein report, to our knowledge, the first observation on the frequency and nature of GATA1 gene mutations in a cohort of Malaysian children with DS-associated TAM (n = 9) and ML-DS (n = 24) encountered successively over a period of five years at a national referral centre.
RESULTSOf the 29 patients who underwent GATA1 analysis, GATA1 mutations were observed in 15 (51.7%) patients, including 6 (75.0%) out of 8 patients with TAM, and 9 (42.9%) of 21 patients with ML-DS. All identified mutations were located in exon 2 and the majority were sequence-terminating insertions or deletions (66.7%), including several hitherto unreported mutations (12 out of 15).
CONCLUSIONThe low frequency of GATA1 mutations in ML-DS patients is unusual and potentially indicates distinctive genomic events in our patient cohort.
Cohort Studies ; Down Syndrome ; complications ; genetics ; Exons ; Female ; GATA1 Transcription Factor ; genetics ; Gene Deletion ; Genomics ; Humans ; Infant, Newborn ; Leukemia, Myeloid ; complications ; genetics ; Leukemoid Reaction ; complications ; genetics ; Malaysia ; Male ; Mutation ; Referral and Consultation ; Remission Induction