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Showing results for "rishi kotecha"
Research
A Novel Missense Mutation Affecting the N-terminal Domain of SAP Protein in X-linked Lymphoproliferative DiseaseWe have revealed a novel SH2D1A gene mutation in a patient with XLP resulting in fulminant refractory EBV-driven HLH, which is a recognized severe complication
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Targeting the bone marrow microenvironment: a novel therapeutic strategy for pre-B acute lymphoblastic leukemiaOur findings shed light on the mechanisms of leukemia-induced bone loss
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Successful Treatment of Congenital Erythroleukemia With Low-Dose Cytosine ArabinosideWe report a term male with congenital acute erythroleukemia who achieved sustained remission with low-dose cytosine arabinoside alone
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Defining the fetal origin of MLL-AF4 infant leukemia highlights specific fatty acid requirementsInfant MLL-AF4-driven acute lymphoblastic leukemia (ALL) is a devastating disease with dismal prognosis. A lack of understanding of the unique biology of this disease, particularly its prenatal origin, has hindered improvement of survival. We perform multiple RNA sequencing experiments on fetal, neonatal, and adult hematopoietic stem and progenitor cells from human and mouse.
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Case Report: Long-Term Survival of a Pediatric Patient With an Intra-Abdominal Undifferentiated Carcinoma of Unknown PrimaryThis report provides detailed characterization of carcinoma of unknown primary (CUP) in a young child and in the absence of defined therapeutic guidelines for pediatric CUP, the successful treatment strategy described should be considered for similar cases.
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Outcomes for Australian children with relapsed/refractory acute lymphoblastic leukaemia treated with blinatumomabWe report on the Australian experience of blinatumomab for treatment of 24 children with relapsed/refractory precursor B-cell acute lymphoblastic leukaemia (B-ALL) and high-risk genetics, resulting in a minimal residual disease (MRD) response rate of 58%, 2-year progression-free survival (PFS) of 39% and 2-year overall survival of 63%. In total, 83% (n = 20/24) proceeded to haematopoietic stem cell transplant, directly after blinatumomab (n = 12) or following additional salvage therapy (n = 8).
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Clinical Implications of Minimal Residual Disease Detection in Infants With KMT2A-Rearranged Acute Lymphoblastic Leukemia Treated on the Interfant-06 ProtocolInfant acute lymphoblastic leukemia (ALL) is characterized by a high incidence of KMT2A gene rearrangements and poor outcome. We evaluated the value of minimal residual disease (MRD) in infants with KMT2A-rearranged ALL treated within the Interfant-06 protocol, which compared lymphoid-style consolidation (protocol IB) versus myeloid-style consolidation (araC, daunorubicin, etoposide/mitoxantrone, araC, etoposide).
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Minimal residual disease and outcome characteristics in infant KMT2A-germline acute lymphoblastic leukaemia treated on the Interfant-06 protocolThe outcome of infants with KMT2A-germline acute lymphoblastic leukaemia (ALL) is superior to that of infants with KMT2A-rearranged ALL but has been inferior to non-infant ALL patients. Here, we describe the outcome and prognostic factors for 167 infants with KMT2A-germline ALL enrolled in the Interfant-06 study.
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Abdominal Imaging at Initial Diagnosis and Following Relapse in Children With Acute Lymphoblastic LeukaemiaAcute lymphoblastic leukaemia (ALL) is the most common paediatric malignancy and remains one of the most common causes of cancer-related death in children and adolescents. It is characterised by the proliferation of immature lymphoid cells capable of infiltrating bone marrow, blood and extramedullary sites. Five-year overall survival rates exceed 90% with current multidrug chemotherapeutic regimens. This manuscript reviews the abdominal imaging features of leukaemic infiltration in children with ALL at the time of initial diagnosis and following relapse.
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Pharmacogenomics in pediatric oncology: Australian adolescent or young adult and caregiver perspectivesPreemptive pharmacogenomic (PGx) testing in pediatric oncology patients could reduce toxicity and improve efficacy of medications yet remains underutilized. Consumer identified implementation barriers have not been extensively explored nor included adolescent or young adult (AYA) patient perspectives. This study describes Australian pediatric oncology consumer perspectives on PGx testing, elucidating barriers to implementation.