Morphology is the basis of the diagnosis of myelodysplastic syndromes (MDS). The WHO classification offers prognostic information and helps with the treatment decisions. However, morphological changes are subject to potential inter-observer variance. The aim of our study was to explore the reliability of the 2008 WHO classification of MDS, reviewing 100 samples previously diagnosed with MDS using the 2001 WHO criteria. Specimens were collected from 10 hospitals and were evaluated by 10 morphologists, working in five pairs. Each observer evaluated 20 samples, and each sample was analyzed independently by two morphologists. The second observer was blinded to the clinical and laboratory data, except for the peripheral blood (PB) counts. Nineteen cases were considered as unclassified MDS (MDS-U) by the 2001 WHO classification, but only three remained as MDS-U by the 2008 WHO proposal. Discordance was observed in 26 of the 95 samples considered suitable (27 %). Although there were a high number of observers taking part, the rate of discordance was quite similar among the five pairs. The inter-observer concordance was very good regarding refractory anemia with excess blasts type 1 (RAEB-1) (10 of 12 cases, 84 %), RAEB-2 (nine of 10 cases, 90 %), and also good regarding refractory cytopenia with multilineage dysplasia (37 of 50 cases, 74 %). However, the categories with unilineage dysplasia were not reproducible in most of the cases. The rate of concordance with refractory cytopenia with unilineage dysplasia was 40 % (two of five cases) and 25 % with RA with ring sideroblasts (two of eight). Our results show that the 2008 WHO classification gives a more accurate stratification of MDS but also illustrates the difficulty in diagnosing MDS with unilineage dysplasia.
Oral mucous membrane involvement occurs uncommonly in mycosis fungoides and reports of it are scarce. We present two patients with severe involvement of the oral mucous membranes.
SUMMARY The case reports of three cases of Refsum's syndrome are presented, and the underlying metabolic abnormality discussed. The effect of treatment with a low-phytanic acid diet in one case is described.
Recently, several cases of porphyria cutanea tarda (PCT) associated with either hematological disorders [ 1,2] or acquired immmunodeficiency syndrome (AIDS) [3,4] have been reported. Although different hypotheses have been proposed to explain such an association [5,6], a coincidence could not be ruled out. We report herein a patient in whom the diagnoses of PCT and chronic myelomonocytic leukemia (CMML) were simultaneously established.A 62-year-old man with history of chronic alcohol ingestion was admitted to the hospital because of the appearance of cutaneous hyperpigmentation and bullous skin lesions in the back of hands. On physical examination, hepatic enlargement 3 cm below the right costal margin was found, in addition to the above referred lesions. Histologic study of such lesions was concordant with porphyria. The diagnosis of PCT was established by the presence of high urine uroporphirin levels (2,914/ 24h, normal range 0-40) with normal porphobilinogen and deltaaminolevulinic acid, and presence of isocoproporphyrin in feaces [7]. A liver biopsy was also performed, portal hepatitis, esteatosis, and hemosiderosis being observed. At diagnosis of PCT the patient showed the following hematological parameters: Hb 10.4 g/dL, MCV 106 fL, WBC count 4.5 x 109/L (35 neutrophils, 15 lymphocytes, 40 monocytes, 3 metamyelocytes, and 2 myelocytes), and platelet count 70 X 109/L. Degranulation of the neutrophils and morphological abnormalities of the platelets were observed, and bone marrow aspirate showed dyshemopoietic features, 6% promonocytes, and 4% blast cells. The bone marrow karyotypic study was normal, and the serum muramidase activity was increased (17 pg/ml, normal range 4.5-6.5). Based on the above features the diagnosis of CMML according to the FAB criteria [8] was established. Remission of PCT was achieved after 6 months of chloroquine treatment, and no further recurrence has been observed. On its turn, CMML has remained stable for the last 4 years, requiring occasional packed RBC transfusion but not cytolytic therapy.Although reduced hepatic uroporphyrinogen decarboxylase activity as a consequence of iron overload caused by repeated transfusions has been involved in some cases of PCT associated with hematological disorders [2], the fact that the diagnoses of CMML and PCT were simultaneously established, as well as the lack of previous transfusions, do not support the possibility of such a mechanism in the ethiology of PCT in this patient. On the other hand, although no previous exposure to hepatotoxic chemicals or drugs potentially affecting hepatic uroporphyrinogen decarboxylase activity was found, the fact that he has a history of alcoholism would be sufficient to explain the development of PCT [6]. Thus, in spite of both PCT and CMML being unfrequent disorders, the association of such diseases in this patient appears to be merely coincidental.
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