title: B-cell acute lymphoblastic leukemia with mature phenotype and MLL rearrangement: report of five new cases and review of the literature.
abstract: The association between mature-B phenotype and MLL abnormalities in acute lymphoblastic leukemia (ALL) is a very unusual finding; only 14 pediatric cases have been reported so far. We describe the clinical and biological characteristics and outcome of five pediatric cases of newly diagnosed B lineage ALL with MLL abnormalities and mature immunophenotype based on light chain restriction and surface Ig expression. Blasts showed variable expression of CD10/CD34/TdT. MLL abnormalities with no MYC involvement were detected in all patients by G-banding, FISH, and/or RT-PCR. Three patients were treated according to Interfant protocol, one to ALLIC-09, and one received B-NHL-BFM-2004. All patients achieved complete remission and three of them relapsed. Despite the small cohort size, it could be postulated that B lineage ALL with MLL abnormalities and mature phenotype is a distinct entity that differs both from the typical Pro B ALL observed in infants and mature B-ALL with high MYC expression.
authors: a Department of Immunology and Rheumatology , Hospital De Pediatría Prof. Dr. Juan P. Garrahan , Buenos Aires , Argentina ;
authors: Elisa Olga
authors: EO
authors: Sajaroff
authors: b Department of Hematology-Oncology , Hospital De Pediatría Prof. Dr. Juan P. Garrahan , Buenos Aires , Argentina ;
authors: Adrian
authors: A
authors: Mansini
authors: b Department of Hematology-Oncology , Hospital De Pediatría Prof. Dr. Juan P. Garrahan , Buenos Aires , Argentina ;
authors: Patricia
authors: P
authors: Rubio
authors: b Department of Hematology-Oncology , Hospital De Pediatría Prof. Dr. Juan P. Garrahan , Buenos Aires , Argentina ;
authors: Cristina Noemí
authors: CN
authors: Alonso
authors: c Cytogenetics Laboratory, Department of Genetics , Hospital De Pediatría Prof. Dr. Juan P. Garrahan , Buenos Aires , Argentina ;
authors: Marta S
authors: MS
authors: Gallego
authors: c Cytogenetics Laboratory, Department of Genetics , Hospital De Pediatría Prof. Dr. Juan P. Garrahan , Buenos Aires , Argentina ;
authors: Mariela C
authors: MC
authors: Coccé
authors: b Department of Hematology-Oncology , Hospital De Pediatría Prof. Dr. Juan P. Garrahan , Buenos Aires , Argentina ;
authors: Silvia
authors: S
authors: Eandi-Eberle
authors: a Department of Immunology and Rheumatology , Hospital De Pediatría Prof. Dr. Juan P. Garrahan , Buenos Aires , Argentina ;
authors: Andrea Raquel
authors: AR
authors: Bernasconi
authors: d Department of Pediatric Hematology-Oncology (TAO) , Aghia Sophia ChildreńS Hospital , Athens , Greece ;
authors: Maria
authors: M
authors: Ampatzidou
authors: e Department of Flow Cytometry, Laboratory of Immunology , "G. Gennimatas" General Hospital , Athens , Greece ;
authors: George
authors: G
authors: Paterakis
authors: f Laboratory of Hematology, Department of Molecular Cytogenetics , "G. Gennimatas" General Hospital , Athens , Greece.
authors: Stefanos I
authors: SI
authors: Papadhimitriou
authors: d Department of Pediatric Hematology-Oncology (TAO) , Aghia Sophia ChildreńS Hospital , Athens , Greece ;
authors: Loizos
authors: L
authors: Petrikkos
authors: d Department of Pediatric Hematology-Oncology (TAO) , Aghia Sophia ChildreńS Hospital , Athens , Greece ;
authors: Vassilios
authors: V
authors: Papadakis
authors: d Department of Pediatric Hematology-Oncology (TAO) , Aghia Sophia ChildreńS Hospital , Athens , Greece ;
authors: Sophia
authors: S
authors: Polychronopoulou
authors: a Department of Immunology and Rheumatology , Hospital De Pediatría Prof. Dr. Juan P. Garrahan , Buenos Aires , Argentina ;
authors: Jorge G
authors: JG
authors: Rossi
authors: b Department of Hematology-Oncology , Hospital De Pediatría Prof. Dr. Juan P. Garrahan , Buenos Aires , Argentina ;
authors: Maria Sara
authors: MS
authors: Felice
mesh_terms: D001853:Bone Marrow / Q000378:metabolism / Q000473:pathology; D002871:Chromosome Banding; D018450:Disease Progression; D017809:Fatal Outcome; D005260:Female; D015321:Gene Rearrangement; D018380:Hematopoietic Stem Cell Transplantation; D006801:Humans; D016130:Immunophenotyping; D007223:Infant; D008297:Male; D051788:Myeloid-Lymphoid Leukemia Protein / Q000235:genetics*; D060787:Neoplasm Grading; D010641:Phenotype; D015452:Precursor B-Cell Lymphoblastic Leukemia-Lymphoma / Q000175:diagnosis* / Q000235:genetics* / Q000628:therapy; D014178:Translocation, Genetic; D014184:Transplantation, Homologous; D016896:Treatment Outcome
chemical_list: D051788:Myeloid-Lymphoid Leukemia Protein
keywords: Acute lymphoblastic leukemia; MLL; mature phenotype