acute erythroid leukemia

1. ==8t2`

2. CasePresentation
DR.USMAN
FCPS-II Trainee
HAEMOTOLGY

3. PERSONAL PROFILE
• Name: XYZ
• Age: 36 years
• Address: Gujrat

4. PRESENTING COMPLAINTS
• Weakness, lethargy and
generalized bodyaches 7 months
• Progressive pallor & jaundice 7 months
• Fever off and on 6 months
• No history of bruising or bleeding from any site

5. • Past History : No history of such episode in the past.
No significant medical and surgical history.
• Drug History : No significant drug history before this
episode.
• Family History : Parents are unrelated. He is having 4
siblings, all are healthy.

6. TRANSFUSION AND TREATMENT
HISTORY
• H/O
blood transfusion, 5 pints of whole blood transfused in
past 7 months.
• He was given Vitamin B12 and Folic acid therapy

7. General physical examination
• Pallor +++
• Jaundice +
• Cyanosis 0
• Lymph nodes - not enlarged
• Temp. – 1000F
• Blood pressure – 110/70mmHg
• Pulse rate – 95/min.
• Respiratory rate – 18/min.

8. SYSTEMIC EXAMINATION
• GIT:
Liver and spleen palpable, both
approx.2cm below costal margin
• CVS:
Unremarkable

9. • CNS:
Unremarkable
• RESPIRATORY SYSTEM:
Unremarkable

10. Lab. Investigations

11. INITIAL COMPLETE BLOOD COUNT:
• Hb 3.9 g/dl
• Total RBC 1.2 X1012/L
• Hct 16 %
• MCV 103 fl
• MCH 32 pg
• MCHC 30 g/dl
• Platelets 90 X 109/L
• Total WBC 15.4 X 109/L
• ESR 110 mm/ 1st hour

12. Differential count
• N 62 %
• L 29 %
• M 09 %
• NRBCs 80/100WBCs

13. PERIPHERAL SMEAR
A well spread giemsa stained smear showing
• RBC’S : Anisocytosis with macrocytosis, marked
polychromasia and NRBCs along with few spherocytes
seen on smear.
• WBC’s: Adequate.
• Platelets: reduced on smear.

14. NRBC
Spherocyte

15. Hypersegmented
neutrophil

16. CLINICAL SUSPICION
Immune Hemolytic
Anemia

17. Retics 8.8%
LFTs
Bili unconj
3.6 g/dl
RECOMMENDED INVESTIGATIONS

18. Haptoglobin
11 (14-258)
Serum ferritin
• 526 ng/ml
(N= 4.6-204
ng/ml)
USG abdomen
• Hepatosplenomegaly
seen

19. COOMBS TEST
DAT = NEGATIVE
IAT=NEGATIVE

20. • ANA Positive
• AMA
• ASmA
• Vit. B12
• RED CELL FOLATE
Steroid therapy was given for 01 month
after ANA was found to be positive.
WNL
Negative
Advised by
His
physician

21. FOLLOW UP CBC
• Hb 4.7 g/dl
• RBCs 1.6 x 10^12/l
• MCV 104 fl
• MCH 30 pg
• MCHC 29 g/dl
• Plts 74 x 10^9/l
• WBs 5.0 x 10^9/l
• P 59 Myelo 01
• L 16 BLASTS 07
• M 15 NRBCs 62/100WBCs
• E 02 Retics 10%

22. Blast cells

23. BONE MARROW ASPIRATE
• Site: Posterior iliac crest
• Cellularity: Hypercellular fragments and smears
• Erythropoiesis: Hyperplastic.Erythroid precursors
constitute 70% of the nucleated marrow cells.
Dyserythropoietic changes like multinuclearity,
internuclear bridging, nuclear budding, karyorrhexis and
megaloblastoid changes seen.
• Myelopoiesis: reduced.

24. • Blasts: Blast cells constitute about 40% of non-erythroid
nucleated marrow cells
• Megakaryocytes: Normal in number and show dysplastic
changes.Platelets are reduced on smears.

25. Trinucleate
Erythroid
Karyorrhexis

26. Blast
cells

27. IRON STAINING
Iron increased in the marrow stores

28. SBB
Negative

29. PAS STAINING
Negative

30. TREPHINE BIOPSY
• H/E showed normal bony trabeculae and hypercellular
bone marrow. Marked degree of erythroid hyperplasia.
Myelopoiesis suppressed. Megakaryocytes present.
Prominent blast cells

31. TREPHINE BIOPSY

32. FINAL DIAGNOSIS:
Acute Erythroid Leukemia
(Erythroid / Myeloid)

33. Acute Erythroid Leukemia:
• Definition:
• Acute erythroid leukemias are those acute
leukemias that are characterised by a predominant
erythroid population. Two subtypes are recognised
based on the presence or absence of a significant
myeloid (granulocylic) component.

34. • Erythroleukemia (Erythroid/Myeloid) is defined by the
presence in the BM of > 50% erythroid precursors in the
entire nucleated cell population and > 20% myeloblasts
in the non-erythroid cell population i-e, the myeloblasts
are calculated as a % of the non erythroid cells.
• Pure erythroid leukemia represents a neoplastic
proliferation of immature cells (undifferentiated or
proerythroblastic in appearance) committed exclusively
to the erythroid lineage ( > 80% of BM cells) with no
evidence of a signicant myeloblastic component.

35. • Epidemiology:
• Erythroleukemia is predominntly a disease of adults. It
comprises < 5% of the cases of AML.
• C/F: The C/F erythroid leukemias are not unique
but profound anemia & circulating erythroblasts are
common.
• May present denovo or evolve from MDS or less
commonly from chronic Myeloproliferative Neoplasms
(MPN).

36. • MORPHOLOGY & CYTOCHEMISTRY:
• Erythroleukemia (erythroid/Myeloid):
• All maturation stages of the erythroid precursors may be
present, frequently with a shift to immaturity.
• The erythroid precursors are dysplastic with
megaloblastoid nuclei and/or bi-or multinucleated forms;
the cytoplasm in the more immature cells freq contains
poorly demarcated vacuoles. Large multinucleated
erythroid cells may be present.

37. • The myeloblasts are of medium size, often containing a
few cytoplasmic granules & occasionally Auer rods & are
similar to the myeloblasts in AML with and without
maturation. Dysplastic changes of maturing neutrophils
& megakaryocytes are common.
• The iron stain may show ring sideroblasts & the PAS
stain may be positive in erythroid precursors either in a
globular or diffused pattern. The MPO and SBB stains
may be positive in the myeloblasts. The BM biopy is
hypercellular. There may be prominent megakaryocytic
dysplasia.
•

38. • IMMUNOPHENOTYPE:
• Erythroleukemia (erythroid/Myeloid):
• The erythroblasts in erythroleukemia generally lack
myeloid-assoicated markers & are negative with anti
MPO. They react with antibodies to HbA & glycophorin,
but the more immature cells may be negative. An
Abberently low expression of CD71 may be present.
• The immunophenotype of the myeloid population
usually corresponds to that of AML without differentiation
or AML with minimal differentiation.

39. • Genetics:
• There is no specific chromosomal abnormality.
• Complex Karyotypes with multiple structural
abnormalities are common
-5/del (5q), -7del(7q) & +8 are the most common.

40. D/D:
• Refractory anemia with excess blasts (RAEB)
• AML with MDS related changes
• AML with maturation with increased erythroid precusors
& reactive erythroid hyperplasia following therapy or
admins of erythropoietin.

41. % Erythroid
precursors in
Bone marrow
Blood/Marrow
findings
Other findings Diagnosis
≥50% ≥20% blasts in
blood or of all
nucleated marrow
cells
Case meets criteria
for AML with
myelodysplasia-
related changes
AML with
myelodysplasia
related changes
≥80% immature
erythroid
precursors with
minimal maturation
Few if any
myeloblasts
Minimal if any
granulocytic
component
Pure erythroid
leukemia
≥50% <20% blasts in
blood;blasts <20%
of all nucleated
marrow cells
Blasts ≥20% of all
non-erythroid cells
in bone marrow
Acute
erythroid/myeloid
leukemia
≥50% <20% blasts in
blood;blasts <20%
of all nucleated
marrow cells
Blasts <20% of all
non-erythroid cells
in bone marrow
MDS;classify MDS
according to
number of blasts in
blood and blasts as
percentage of all
nucleated marrow
cells

42. TREATMENT
• The most commonly used induction regimens for AML
are the so-called "7+3" regimens, which combine a
seven-day continuous intravenous infusion of
cytarabine (100 or 200 mg/m2 per day) with a short
infusion or bolus of an anthracycline given on days one
through three. The most commonly used anthracycline in
this regimen is daunorubicin, but other anthracyclines
(e.g, doxorubicin, idarubicin) can also be used.

43. • Standard dose cytarabine 100-200 mg/m2 continuous
infusion X 07 days with idarubicin 12 mg/m2 or
daunorubicin 60-90 mg/m2 X 03 days.
• High dose cytarabine 2-3 g/m2 every 12 hrs X 03
days with idarubicin 12 mg/m2 OR daunorubicin 45-60
mg/m2 X 03 is another option.
• In patients with antecedent hematological disease or
therapy related AML, matched sibling or alternative
donor HSCT is done. If no suitable allogenic donor is
available then cytarabine/ anthracycline based
chemotherapy can be utilized.

44. • Prognosis:
• Acute Erythroid leukemia is generally associated with an
aggressive clinical course.

45. Research Articles on Erythroleukemia
• A retrospective study of clinico-hematological and
cytogenetic profile of erythroleukemia from South
India (published inTurkish Society of Hematology 2006)

47. THANK YOU