Qap (Anatomical Pathology) 

QAP Peer Review

AP101
Case History: M23 Chinese. Transfusion-dependent anemia since childhood.
Intended diagnosis: Gaucher-like cells in beta thalassemia major. Contributed by:PKH
Code Diagnosis Comment Score
anonymous Bone marrow - Erythroid hyperplasia with Gaucher-like cells (100%). Please correlate clinically for presence of thalassaemia.  100
anonymous Gaucher-like cells, 100%. According to the clinical history, these cells are most probably histiocytes related to repeated blood transfusions. True Gaucher cells in Gaucher disease are usually more numerous, stain strongly positive for PAS stain, and show membrane-bound structures containing hollow tubules ultrastructurally.  80
anonymous Erythroid hyperplasia with Gaucher-like cells, 100% Gaucher-like cells have been described in association with thalassemia. Please check for such history.  100
anonymous Multiple clusters of Gaucher cell-like cells are present in the bone marrow. Differential diagnoses include Thalassemia (80%), Congenital dyserythropoietic anaemia (10%) and Atypical mycobacterial infection in the setting of HIV infection (10%). Special stain ( Ziehl-Neelsen stain ) should be performed. Similar cells may be present in chronic myeloid leukaemia, acute leukaemias and Gaucher's disease. However, the bone marrow shows no features of leukaemias. Clinical correlation and laboratory investigation is necessary for the diagnosis of Gaucher's disease.  100
anonymous Active marrow with accumulation of foamy histiocytes Consistent with congenital dyserythropoietic anemia, such as thalassemia. Correlate with clinical findings and hemoglobin pattern.  100
anonymous Erythroid hyperplasia with Gaucher-like cells. 100%. Nil.  100
anonymous Presence of Gaucher-like cells and increased number of cells of erythroid series, together with history of transfusion-dependent anemia since childhood, favour diagnosis of conditions such as congenital dyserythropoietic anemias or thalassemia. However, Gaucher's disease still has to be excluded. 100% Suggest clinical and hematologic correlations.  100
anonymous Bone marrow - erythroid hyperplasia with clusters of Gaucher-like cells ( macrophages ) 100% The history suggests patient suffers from hemoglobinopathy (? thalassemia). The foamy macrophages in the marrow reflects occurrence of rapid cell turnover ( from ineffective erythropoiesis ). If this case were storage disease (e.g. Gaucher's disease), at this age the marrow would have been fully packed by Gaucher cells, leaving behind a hypoplastic marrow instead.  100
anonymous Pseudo-Gaucher cells in marrow (90%) Mycobacterium avium intracellulare (MAI) (5%) Whipple's disease (3%) Gaucher's disease (2%) The morphology of the foam cells are not typical of Gaucher's disease. PAS and Ziehl-Neelsen stain are useful to rule out Whipple's disease and MAI respectively. Further studies depend on the initial findings. e.g. EM, PCR for Whipple's.  80
anonymous Gaucher disease 100% nil  50
anonymous Marrow hyperplasia with foamy histiocytes suggestive of 1. lipid storage disease (e.g. Niemann-Pick disease) 70% 2. infection (e.g. MAI, fungal) 30% Marrow hyperplasia may be compensatory response to some hematological disorders e.g. thalasemia ZN & PAS stains should be performed to rule out MAI & fungal infection respectively. Diagnosis of lipid storage disease should be confirmed by enzyme essay.  100
anonymous Gaucher-like cells and erythroid hyperplasia. It is most likely due to underlying congenital anaemia (e.g. thalassaemia, congenital dyserythropoietic anaemia) 100%. There is no evidence of haemopoietic malignancy. 1. Given the history of anaemia since childhood, the features are unlikely to be Gaucher’s disease or other lysosomal storage disease (e.g. Wolman’s disease). 2. There is no significant erythro-phagocytosis to suggest haemophagocytic syndrome (infection-associated, familial).  100
anonymous Erythroid hyperplasia with pseudo-Gaucher cells. Probability:100% Suggestive of Cooley's anemia.  100
anonymous Erythroid hyperplasia with pseudo-Gaucher cells Thalassemia major and chronic hemolytic anemia should be ruled out by ancillary tests such as hemoglobin pattern, genetic study and history.  100
anonymous Gaucher-like cells present. Consistent with reactive changes secondary to ineffective hematopoietic conditions e.g. thalassemia, congenital dyserythropoietic anaemia.  100