ABSTRACT
OBJECTIVE: Understanding the clinical and genetic characteristics of pediatric acute lymphoblastic leukemia (ALL)
patients may help assigning the appropriate treatment. This study aims to understand patients' characteristics, "real-world"
treatment practice and outcomes of pediatric ALL. METHODS: A cohort of 213 pediatric ALL patients, treated at (King
Faisal Specialist Hospital and Research Center -Jeddah branch) KFSH and RC-J during the period of January 2002 to
December 2015 were analyzed retrospectively. Statistical analyses were performed on patients' demographic, clinical
and genetics characteristics and outcomes of different treatment protocols. Survival was evaluated using Kaplan-Meier
method, and differences in survival were tested using Log-Rank. Significance was set at 0.05 level. RESULTS: Median
age of the study cohort was 5 years (range 0.5-15 years) with 55.4% of male population. Majority of the patients had
pre-B-cell ALL (88.7%), WBC count <50, 000/µL at diagnosis (76.1%, median = 13.5/µL with a range of 0.51-553.0/
µL) with involvement of central nervous system (CNS) disease in 8.5%patients.Different common chromosomal
anomalies or abnormalities, including t(12, 21) translocation, MLL genre arrangements, trisomy (4, 10, 17)and others,
were detected. Early response to the risk-directed treatment received by the patients (91.1% achieving <5% blast in
the bone marrow) as well as the end of induction outcome (96.2%) was encouraging. CONCLUSION: We found that the
patients' clinical characteristics and distribution of genetic abnormalities were similar to those of the western countries.
Our findings show that the earlier gap between the western countries and KSA in terms of survival has been closed and
that competitive outcomes can be achieved with local infrastructure.
Subject(s)
Antineoplastic Agents/therapeutic use , Precursor Cell Lymphoblastic Leukemia-Lymphoma/drug therapy , Adolescent , Bone Marrow/drug effects , Child , Child, Preschool , Chromosome Aberrations/drug effects , Female , Humans , Infant , Male , Precursor Cell Lymphoblastic Leukemia-Lymphoma/genetics , Retrospective Studies , Saudi Arabia , Translocation, Genetic/drug effects , Translocation, Genetic/geneticsABSTRACT
BACKGROUND: Cerebellar swelling with obstructive hydrocephalus is a rare but life threatening condition, associated with different etiologies, familial hemophagocytic lymphohistiocytosis (HLH) being rarely one of them. PATIENT: 2-year-7-month old boy presented with irritability, cerebellar dysfunction, and somnolence. Brain MRI showed marked diffuse cerebellar swelling and obstructive hydrocephalus with mild tonsillar herniation. Laboratory testing revealed pancytopenia, elevated liver enzymes, elevated ferritin and triglycerides levels and decreased fibrinogen. The diagnosis of familial HLH was confirmed by the presence of homozygous missense mutation of Syntaxin 11 gene. The child was treated with HLH-2004 protocol of chemotherapy followed by allogenic stem cell transplantation. His neurological condition improved significantly after treating the underlying disease. CONCLUSION: Cerebellar swelling is a rare manifestation of familial HLH. High degree of clinical suspicion may allow a timely diagnosis and appropriate therapy.
