title: PHA-Induced Peripheral Blood Cytogenetics and Molecular Analysis: a Valid Diagnostic and Follow-up Modality for Acute Promyelocytic Leukemia Patients Treated with ATRA and/or Arsenic Tri-oxide.
abstract: BACKGROUND
  Acute promyelocytic leukemia (APML) is characterized by the reciprocal translocation t(15;17) (q22;q12) resulting in the PML-RARα fusion gene. A dual diagnostic and follow up approach was applied including cytogenetic demonstration of the t(15;17) translocation and detection of PML-RARα chimeric transcripts by molecular means.
  
  
  OBJECTIVE
  Conventional cytogenetics involving bone marrow is beset with high probability of poor metaphase index and was substituted with phytohemagglutinin (PHA)-induced peripheral blood culture based cytogenetic analysis as a diagnostic and follow up modality in APML patients of Kashmir (North India). Both qualitative (RT-PCR) and quantitative (Q-PCR) tests were simultaneously carried out to authenticate the modified cytogenetics.
  
  
  METHODS
  Patient samples were subjected to the said techniques to establish their baseline as well as follow-up status.
  
  
  RESULTS
  Initial cytogenetics revealed 30 patients (81%) positive for t(15;17) whereas 7 (19%) had either cryptic translocation or were negative for t(15;17). Two cases had chromosome 16q deletion and no hallmark translocation t(15;17). Q-PCR status for PML-RARα was found to be positive for all patients. All the APML patients were reassessed at the end of consolidation phase and during maintenance phase of chemotherapy where 6 patients had molecular relapse, wherein 4 also demonstrated cytogenetic relapse.
  
  
  CONCLUSIONS
  It was found that PHA-induced peripheral blood cytogenetics along with molecular analysis could prove a reliable modality in the diagnosis and assessment of follow up response of APML patients.
authors.affiliation: Department of Immunology and Molecular Medicine, Srinagar, J and K, India E-mail : bshahid007@gmail.com, zaffaramin@gmail.com.
authors.forename: Shahid M
authors.initials: SM
authors.lastname: Baba
authors.forename: Niyaz A
authors.initials: NA
authors.lastname: Azad
authors.forename: Zaffar A
authors.initials: ZA
authors.lastname: Shah
authors.forename: Dil
authors.initials: D
authors.lastname: Afroze
authors.forename: Arshad A
authors.initials: AA
authors.lastname: Pandith
authors.forename: Aleem
authors.initials: A
authors.lastname: Jan
authors.forename: Sheikh A
authors.initials: SA
authors.lastname: Aziz
authors.forename: Fayaz A
authors.initials: FA
authors.lastname: Dar
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D000971:Antineoplastic Combined Chemotherapy Protocols / Q000627:therapeutic use*; D000077237:Arsenic Trioxide; D001152:Arsenicals / Q000008:administration & dosage; D014408:Biomarkers, Tumor / Q000235:genetics; D001773:Blood Cells / Q000378:metabolism / Q000473:pathology*; D002648:Child; D002884:Chromosomes, Human, Pair 15 / Q000235:genetics; D002886:Chromosomes, Human, Pair 17 / Q000235:genetics; D020732:Cytogenetic Analysis; D005260:Female; D005500:Follow-Up Studies; D015321:Gene Rearrangement; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007194:India; D015473:Leukemia, Promyelocytic, Acute / Q000097:blood / Q000175:diagnosis* / Q000188:drug therapy / Q000235:genetics; D008297:Male; D008875:Middle Aged; D009364:Neoplasm Recurrence, Local / Q000188:drug therapy / Q000473:pathology; D009367:Neoplasm Staging; D015514:Oncogene Proteins, Fusion / Q000235:genetics; D010087:Oxides / Q000008:administration & dosage; D010835:Phytohemagglutinins / Q000494:pharmacology; D011379:Prognosis; D014178:Translocation, Genetic; D014212:Tretinoin / Q000008:administration & dosage
chemical_list: D001152:Arsenicals; D014408:Biomarkers, Tumor; D015514:Oncogene Proteins, Fusion; D010087:Oxides; D010835:Phytohemagglutinins; C093476:promyelocytic leukemia-retinoic acid receptor alpha fusion oncoprotein; D014212:Tretinoin; D000077237:Arsenic Trioxide