13. Interactive leukaemia cases Flashcards
Case 1: A 5 y/o boy of Indian ethnic origin presented with lymphadenopathy and a mediastinal mass on chest radiology. WBC: 180 x 10^9/L, Hb 93 g/L and platelet count 43 x 10^9/L. Blood film shows blast cells and look anaemic. There are not platelets and blast cells are present. What is the likely diagnosis and what is the lineage?
Only in T-lineage ALL will cause a thymoma. This is acute lymphoblastic leukaemia of T-cell lineage.
Case 2: 48 y/o M - raileway engineer. 2 wk Hx bleeding gums. Attended dentist - severe bleeding. 1 episode of haematuria. minor bruising. Attended A&E department. Left subconjunctival haemorrhage. Small bruises over abdomen. No large lymph nodes. No hepatosplenomegaly. What Ix would you like to do?
Blood count, film and coagulation screen.
Case 2: 48 y/o M - raileway engineer. 2 wk Hx bleeding gums. Attended dentist - severe bleeding. 1 episode of haematuria. minor bruising. Attended A&E department. Left subconjunctival haemorrhage. Small bruises over abdomen. No large lymph nodes. No hepatosplenomegaly. Bloods show normal renal function, minor liver derangement (longstanding): ALT high, ALP normal and bilirubin high. FBC: Hb low, MCV borderline low, platelets very low. Coagulation screen: PT high, APTT low, fibrinogen low. Blood film shows granules and Auer rods. How can we prove whether it is lymphoid or myeloid? What test to do next?
Cytochemistry or immunophenotyping. NOTE: neither test is absolutely necessary. Do bone marrow biopsy. The presence of granules and Auer rods strongly suggests that these cells are MYELOID.
Case 2: 48 y/o M - raileway engineer. 2 wk Hx bleeding gums. Attended dentist - severe bleeding. 1 episode of haematuria. minor bruising. Attended A&E department. Left subconjunctival haemorrhage. Small bruises over abdomen. No large lymph nodes. No hepatosplenomegaly. Bloods show normal renal function, minor liver derangement (longstanding): ALT high, ALP normal and bilirubin high. FBC: Hb low, MCV borderline low, platelets very low. Coagulation screen: PT high, APTT low, fibrinogen low. Blood film shows granules and Auer rods. Bone marrow biopsy shows that the cells are very granular and the blast cells replace the marrow. What is the diagnosis?
Acute promyelocytic leukaemia
How can acute promyelocytic leukaemia be confirmed?
This can be confirmed using cytogenetic analysis/FISH/molecular genetic analysis
What chromosomes and genes are involved in APML?
15;17 translocation forming the PML-RARA fusion gene
What is the treatment for APML?
Platelets; chemotherapy; all-trans-retinoic acid (ATRA); complete remission can be achieved
What is the survival rate of APML?
There is a 90% 5-year survival
Why can APML cause a short APTT?
This condition can cause a SHORT APTT because there is so much activation of coagulation factors that it accelerates the clotting of the plasma once you add the calcium to do the test
Case 3: 68 y/o retired secretary. Gradual onset of fatigue, lethargy and exertional dyspnoea. Non-smoker, not much etOH, good diet. O/E pallor (conjunctival and nail bed) and mild ankle oedema. Which one test would you do next?
FBC
Case 3: 68 y/o retired secretary. Gradual onset of fatigue, lethargy and exertional dyspnoea. Non-smoker, not much etOH, good diet. O/E pallor (conjunctival and nail bed) and mild ankle oedema. FBC: WBC normal, Hb low, MCV high, neutrophil low, platelet normal. Which test should be done next?
Blood film
Case 3: 68 y/o retired secretary. Gradual onset of fatigue, lethargy and exertional dyspnoea. Non-smoker, not much etOH, good diet. O/E pallor (conjunctival and nail bed) and mild ankle oedema. FBC: WBC normal, Hb low, MCV high, neutrophil low, platelet normal. Blood film (see notes) showed macrocytes but no oval macrocytes or hypersegmentation of neutrophils. Population of hypochromic microcytes in addition to macrocytic cells. Dimorphic film. Not associated with B12/folate deficiency or hypothyroidism or liver disease. Serum B12 is normal, red cell folate normal, LFT normal, TFT normal, ferritin high. Bone marrow aspirate: high blasts, 45% of erythroblasts were ring sideroblasts. What is the diagnosis?
Myelodysplastic syndrome (MDS) - (MDS with excess of blasts)
What are ring sideroblasts and how do they stain?
Ring sideroblasts are erythroblasts with iron-loaded mitochondria visualized by Prussian blue staining (Perls’ reaction) as a perinuclear ring of blue granules. Ring sideroblasts are seen in MDS
Case 3: Initially the patient tolerated the anaemia and required no treatment. Later she needed red cell transfusion and later she still needed platelet transfusions. Predicted survival was 1.1 years. However, she was still alive 7 years later. What do you want to keep an eye on during Mx?
The high ferritin isn’t a massive issue but you want to keep an eye on it because you don’t want them to develop iron overload
Case 4: 72 year old Indian woman. Vegetarian, teetotal, non-smoker. SOBOE, fatigue, painful gums and tongue, unable to eat spicy food, O/E: pallor only. WBC normal, Hb low, MCV high. Platelet count normal. What would you like to measure?
Vitamin B12 and folate levels (because of macrocytic anaemia)
