Case 50 part 4 – summary

The laboratory data of anaemia, thrombocytosis, a leucoerythroblastic film and tear drop poikilocytes point towards a diagnosis of myelofibrosis. Other causes of a leucoerythroblastic film with tear drop poikilocytes may include:

  • Beta thal intermedia/major (this should be obvious from the history and the MCV/MCH would be lower)
  • Hairy cell leukaemia (often results in a fibrotic marrow and splenomegaly but the patient is more likely to be monocytopenic/pancytopenic)
  • Marrow infiltration from non-haematopoietic tumour (tear drop cells can be seen but not a major feature)
  • Severe B12/folate deficiency – can result in tear drop cells, but leucoerythroblastosis would be less of a feature


If a leucoerythroblastic film is seen the patient requires a full history and examination. Myelofibrosis should be actively looked for, so symptoms of abdominal fullness, indigestion/early satiety, bone pain, fatigue, low appetite, gout, sweats should be elicited. Signs include (hepato)splenomegaly, pallor and weight loss are seen.


Investigations include:

  1. Basic FBC, film, biochemistry (inc urate/LDH), G&S
  2. Peripheral blood to look for JAK2 V617F, MPL W515L and exon 9 CALR mutations (BCR-ABL if aytpical features)
  3. Bone marrow aspirate, trephine biopsy and cytogenetics (latter optional, but important if potential transplant candidate)


Myelofibrosis is a myeloproliferative neoplasm (a cancer) which results in the replacement of normal haematopoietic tissue with connective tissue due to collagen fibrosis. Initially the blood counts appear proliferative but as time goes on patients suffer from progressive splenomegaly (extramedullary haematopoiesis) and cytopenia. The clinical course can be slow. A variety of treatments exist from supportive care (analgesia, blood transfusion), to chemotherapy such as hydroxycarbamide and busulfan and splenic radiotherapy. Allogenic stem cell transplant is an option for fitter patients. Ruxolitinib, a JAK inhibitor, is showing promise as an effective treatment for myelofibrosis. It can reduce spleen size and improve quality of life. More data are arising that a survival benefit is also seen. More trials of novel therapy are in progress.


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