title: Clinicopathologic Effect of DNMT3A Mutation in Adult T-Cell Acute Lymphoblastic Leukemia.
abstract: BACKGROUND
  The present study aimed to determine the frequencies and clinicopathologic effect of a DNMT3A [DNA (cytosine-5)-methyltransferase 3A] mutation in patients with adult T-cell acute lymphoblastic leukemia (T-ALL).
  
  
  METHODS
  A total of 64 patients with T-ALL who had been admitted to Mansoura University Oncology Center were included in the present study. For all patients, DNA extraction and amplification with sequencing analysis using the 310 ABI genetic analyzer for detection of a mutation (R882H).
  
  
  RESULTS
  The DNMT3A mutation (R882H) was found in 12 of the 64 patients (18.8%). The DNMT3A mutation was frequently detected in the older age group and was associated with high leukocytic counts, a high bone marrow blast cell percentage, and the frequent presence of extramedullary disease. However, it was not associated with the hemoglobin level, red blood cell count, or platelet count. The patients with mutant T-ALL had a low tendency to achieve remission after induction. These patients had significantly shorter overall survival and shorter disease-free survival compared with those with wild-type T-ALL (P = .037 and P = .006, respectively).
  
  
  CONCLUSIONS
  DNMT3A is frequently mutated in T-ALL and is associated with distinct clinicopathologic entities and a poor prognosis. These findings could help in risk stratification and treatment decisions for patients with T-ALL.
authors.affiliation: Hematology Unit, Clinical Pathology Department, Mansoura University Faculty of Medicine, Mansoura, Egypt. Electronic address: salaharef@yahoo.com.
authors.forename: Salah
authors.initials: S
authors.lastname: Aref
authors.affiliation: Hematology Unit, Clinical Pathology Department, Mansoura University Faculty of Medicine, Mansoura, Egypt.
authors.forename: Nadia
authors.initials: N
authors.lastname: El Menshawy
authors.affiliation: Hematology Unit, Clinical Pathology Department, Mansoura University Faculty of Medicine, Mansoura, Egypt.
authors.forename: Mohamed Sabry
authors.initials: MS
authors.lastname: El-Ghonemy
authors.affiliation: Clinical Hematology Unit, Mansoura University Oncology Center, Mansoura University Faculty of Medicine, Mansoura, Egypt.
authors.forename: Tarek Abou
authors.initials: TA
authors.lastname: Zeid
authors.affiliation: Medical Oncology Unit, Mansoura University Oncology Center, Mansoura University Faculty of Medicine, Mansoura, Egypt.
authors.forename: Mohamed Ali
authors.initials: MA
authors.lastname: El-Baiomy
mesh_terms: D000293:Adolescent; D000328:Adult; D000367:Age Factors; D000368:Aged; D000903:Antibiotics, Antineoplastic / Q000627:therapeutic use; D000964:Antimetabolites, Antineoplastic / Q000627:therapeutic use; D060830:Consolidation Chemotherapy; D003561:Cytarabine / Q000627:therapeutic use; D004248:DNA (Cytosine-5-)-Methyltransferases / Q000235:genetics*; D000090205:DNA Methyltransferase 3A; D003630:Daunorubicin / Q000627:therapeutic use; D018572:Disease-Free Survival; D004534:Egypt / Q000453:epidemiology; D005260:Female; D006801:Humans; D060828:Induction Chemotherapy; D008297:Male; D008875:Middle Aged; D009154:Mutation; D054218:Precursor T-Cell Lymphoblastic Leukemia-Lymphoma / Q000235:genetics* / Q000401:mortality* / Q000473:pathology; D011379:Prognosis; D017422:Sequence Analysis, DNA; D055815:Young Adult
chemical_list: D000903:Antibiotics, Antineoplastic; D000964:Antimetabolites, Antineoplastic; C000717967:DNMT3A protein, human; D003561:Cytarabine; D004248:DNA (Cytosine-5-)-Methyltransferases; D000090205:DNA Methyltransferase 3A; D003630:Daunorubicin
keywords: DNA (cytosine-5)-methyltransferase 3A; DNA methyl transferase mutation; Epigenetic regulation; Prognosis; T-ALL