Haematology. Barbara J. Bain

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Название Haematology
Автор произведения Barbara J. Bain
Жанр Медицина
Серия
Издательство Медицина
Год выпуска 0
isbn 9781119777526



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bodies (top), rare acanthocytes (top right), target cells (bottom left), giant platelets (bottom right) and thrombocytosis. An unusual feature was the presence of cells with haemoglobin condensed at the two poles of the cell and of irregularly contracted cells including hemighosts (top right and bottom left). An even more unusual feature was the presence of Plasmodium falciparum gametocytes (bottom right) and trophozoites (top). HPLC showed absent haemoglobin A, haemoglobin S 86.5% and haemoglobin F 5.1%.

      Sickle cell trait protects from falciparum malaria but the converse is true of sickle cell anaemia, in which malaria can be life‐threatening. Opportunistic detection of malaria parasites in a patient in whom the diagnosis has not been suspected clinically can be life‐saving. Another warning sign in this patient is the presence of irregularly contracted cells and hemighosts. This observation correlates with the presence of hypoxia (Siow et al. 2017).

      1 Siow W, Matthey F and Bain BJ (2017) The significance of irregularly contracted cells and hemighosts in sickle cell disease. Am J Hematol, 92, 966–967.

      1 Causes of worsening anaemia that would be likely in a 30‐year‐old African or Afro‐Caribbean woman with sickle cell anaemia include:Folic acid deficiencyHaemolytic crisisParvovirus B19 infectionSplenic infarctionSplenic sequestrationFor answers and discussion, see page 206.

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      A 53‐year‐old woman was referred for investigation after presenting to her GP with a recent history of lethargy, myalgia, fever and headache. Her FBC showed Hb 100 g/l, WBC 3.4 × 109/l, neutrophils 0.5 × 109/l and platelets 39 × 109/l. The blood film showed small numbers of myeloblasts with some containing Auer rods. The bone marrow aspirate showed a prominent myeloblast population (approximately 40% of nucleated cells) with cytoplasmic granules (all images ×100 objective) with some showing Auer rods (top centre, top right, bottom left, bottom right). There was myeloid maturation to neutrophils with some cells showing hypogranularity (myelocytes, top left and neutrophils, bottom left, bottom right) but significantly, the nuclear morphology of maturing cells was also abnormal. Note the abnormal neutrophil segmentation (top centre, bottom right) and pseudo‐Pelger–Huët anomaly (bottom left) including complete failure of segmentation resulting in a round nucleus (bottom centre). This subtype of AML can often be predicted on the basis of the marked granulocyte dysplasia, particularly the abnormalities in nuclear morphology in the maturing myeloid cells.

      1 Acute myeloid leukaemia with t(8;21)(q22;q22.1); RUNX1‐RUNX1T1:Can be diagnosed despite blast cells being less than 20% in blood and bone marrowMay have an increase in bone marrow eosinophils and precursorsOften shows trilineage dysplasiaShould be classified as mixed phenotype acute leukaemia when there is expression of CD19, CD79a and PAX5Shows an association with systemic mastocytosis with a KIT D816V mutationFor answers and discussion, see page 206.

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      A 72‐year‐old man was referred for assessment of chronic asymptomatic neutrophilia. The initial blood tests had been triggered by a clinical diagnosis of gout. He had shown a chronic unexplained persistent neutrophilia and the most recent full blood count showed Hb 130 g/l, WBC 115 × 109/l, neutrophils 92 × 109/l and platelets 132 × 109/l. The blood film showed neutrophilia with minimal dysplasia, minimal left shift and no excess of blast cells. The neutrophils showed normal or increased granulation and some were vacuolated (all images ×100 objective). A bone marrow aspirate showed myeloid hyperplasia with no excess of blasts, eosinophils or basophils. Molecular analysis did not show BCR‐ABL1. Two mutations in CSF3R were identified: T618I in exon 12 and E778X in exon 17. These findings are in keeping with a diagnosis of chronic neutrophilic leukaemia (CNL).

      References

      1 Bain BJ, Brunning RD, Orazi A and Thiele J (2017) Chronic neutrophilic leukaemia. In Swerdlow SH, Campo E, Harris NL, Jaffe ES, Pileri S, Stein H and Thiele J (Eds) WHO Classification of Tumours of Haematopoietic and Lymphoid Tissues, revised 4th Edn. IARC Press, Lyon, pp. 37–38.

      2 Szuber N, Finke CM, Lasho TL, Elliott MA. Hanson CA, Pardanani A and Tefferi A (2018) CSF3R‐mutated chronic neutrophilic leukemia: long‐term outcome in 19 consecutive patients and risk model for survival. Blood Cancer J, 8, 21.

      3 Szuber N, Elliott M and Tefferi A (2020) Chronic neutrophilic leukaemia: 2020 update on diagnosis, molecular genetics, prognosis and management. Am J Haematol, 95, 212–224.

      1 Increased neutrophil granulation (‘toxic’ granulation) is a usual feature of:Chronic myeloid leukaemia, BCR‐ABL1‐positiveChronic neutrophilic leukaemiaG‐CSF (filgrastim) therapyLeukaemoid reaction to multiple myelomaSepsisFor answers and discussion, see page 206.