A Morphological Study of Acute Myeloid Leukemia and Correlation With Clinical and Laboratory Findings, Including Results of Cytogenetic Analysis and Mutation Screening

Amey Madhav, Baitule (2017) A Morphological Study of Acute Myeloid Leukemia and Correlation With Clinical and Laboratory Findings, Including Results of Cytogenetic Analysis and Mutation Screening. Masters thesis, Christian Medical College, Vellore.


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OBJECTIVES : • To describe the morphology of bone marrow aspirates in acute myeloid leukemia (AML). • To correlate the bone marrow morphology with results of cytogenetic analysis and mutation screening. • To categorize AML using both the French-American-British (FAB) and the World Health Organization (WHO) classification systems METHODS : • A total of 156 newly diagnosed cases of AML presenting to Christian Medical College, Vellore over a period of one year from January 2015 to December 2015 were included in this study. • Bone marrow aspirate smears and peripheral blood smears of 156 patients with AML were studied and findings such as differential count, blast lineage assessment and assessment of dysplasia were noted. • Laboratory haematological parameters such as haemoglobin, platelet count and total leucocyte count were assessed for all the patients. • Cytogenetic analysis using karyotyping was carried out in 142 of the 156 patients. • Mutation screening for NPM1, FLT3-ITD and FLT3-TKD genes was carried out for 47 patients. RESULTS : • The median age of the patients was 32 years (range: 7 months to 76 years). • Using the FAB classification, the most common subtype was AML-M2 (37%) followed by AML-M1 (21%). AMl-M6 (1%) was the least common subtype. • Cytogenetic analysis – Abnormal karyotypes were seen 62% of our patients. (15;17)(q22;q12) was the most common recurrent genetic abnormality observed. t(8;21)(q22;q22.1) was seen in 8% patient. Rest of the abnormalities were seen in ~1-2% of patients. Other common cytogenetic abnormalities observed were • Trisomy 8 – 9% • Monosomy 7 – 8% • Complex karyotypes (3 or more abnormalities) – 13% • Monosomal karyotypes – 9%. • Mutation screening – • NPM1 mutation was seen in 47% (22/47) patients, and in 74% (20/27) patients with normal karyotype. • FLT3-ITD mutations were seen in 19% (9/47) of patients. • FLT3-TKDmutations were seen in 17% (8/47) of patients. • Concomitant NPM1 and FLT3 mutations were concomitantly seen in 28% (13/47) of patients. • Using the 2016 revision to the WHO classification of AML– AML with recurrent genetic abnormalities (AML-RGA) accounted for 42% of patients. AML, not otherwise specified (AML, NOS) accounted for 37% of patients. AML with myelodysplasia-related changes (AML-MRC) accounted for 21% of patients. • AML-MRC based only on morphological evidence of dysplasia - 23%. • AML-MRC based on morphology and /or cytogenetic changes - 77%. • Risk classification according to modified European LeukemiaNet (ELN) classification system – Favorable risk profile was seen in 37% of patients. • Intermediate risk profile was seen in 38% of patients. • Adverse risk profile was seen in 25% of patients.

Item Type: Thesis (Masters)
Uncontrolled Keywords: Acute myeloid leukemia ; AML ; FAB classification ; WHO 2016 classification ; Cytogenetics ; NPM1 ; FLT3-ITD ; FLT3-TKD ; ELN classification.
Subjects: MEDICAL > Pathology
Depositing User: Subramani R
Date Deposited: 22 Dec 2017 17:41
Last Modified: 22 Dec 2017 17:41
URI: http://repository-tnmgrmu.ac.in/id/eprint/4729

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