A 68-year-old woman presented with pancytopenia and bleeding episodes and was sent to the hospital. A bone marrow biopsy revealed leukemia. Peripheral blood tests showed low white blood cell, red blood cell, and platelet counts with 6% blasts and promyelocytes. Bone marrow microscopy and immunophenotyping confirmed acute myeloid leukemia with t(15;17), a genetic abnormality known as the promyelocytic leukemia-retinoic acid receptor alpha translocation. The patient achieved complete remission after treatment with all-trans retinoic acid and chemotherapy. Follow-up quantitative PCR tests showed decreasing levels of the PML-RARA fusion gene over time, indicating ongoing remission

1. Tutored Clinical Case 7 ESH-EHA 20th Tutorial Diagnostic Work-Up of Hematological Malignancies Focus on Myeloid Malignancies Type II Tutorial Speaker: V. Savchenko Saint Petersburg, Russia July 1-3, 2011

4. Peripheral blood count WBC 1.7 x 10 9 /l RBC 3.82 x 10 12 /l Hb 96 g/l Plt 26 x 10 9 /l 6% blasts, 2% promyelocytes, 6% bands, 14% neutrophils, 70% lymphocytes

5. Fig.1a Peripheral blood microscope examination

6. Fig.1b Bone marrow microscope examination

7. Fig.1c Bone marrow microscope examination (II)

8. Immunophenotype

9. Immunophenotype (II) Fig.2a

10. Fig.2b Immunophenotype (III)

11. Cytogenetics

12. FISH

13. Molecular biology 1263 405 PML RARA 3 3 bcr1 L-Transkript bcr2 V-Transkript bcr3 S-Transkript 1264 1335 1479 1737 405 bp 3 4 5 6 3 4 5 6 3 4 5 6 3 3 3 RARA PML variabel a) -bcr1 -bcr3 b) M -K bcr1 bcr3

14. Diagnosis AML FAB M3 variant with t(15;17)

16. Quantitative Real time/nested PCR: 761,9 null cABL negative negative PML-RARA bcr3 BM Follow-up XX.10.03 451,1 null cABL negative negative PML-RARA bcr3 BM Follow-up XX.07.03 71,5 null cABL negative negative PML-RARA bcr3 BM Follow-up XX.04.03 47,1 null cABL negative negative PML-RARA bcr3 BM Follow-up XX.11.02 123,5 null cABL PML-RARA bcr3 BM Follow-up XX.09.02 2,8 1,18 cABL negative negative PML-RARA bcr3 BM Follow-up XX.08.02 535,9 14,38 cABL 1 µl PML-RARA bcr3 BM diagnosis XX.08.02 Sensit. Quo-tient PCR2 nested primary PCR1 source Time point Date