476
British Journal of Haematology, 1992, 82
Case Reports
MYELODYSPLASTIC SYNDROME ASSOCIATED WITH INCREASED BONE MARROW FIBROSIS AND TRANSLOCATION (5:12)(q33 p l 2 . 3 ) In primary myelodysplastic syndromes (MDS) striking myelofibrosis with collagenization is unusual (Tricot rt nl. 1984: Pagliuca rt al, 1989; Lambertenghi-Deliliers rt nl. 199 1: Verhoefet al, 1991). We report on a patient with primary MDS. leucoerythroblastosis. a n uncommon chromosomal abnormality and diffuse bone marrow fibrosis with areas of collagenization. In August 1989 the patient, a 52-year-old white male. had been found to have haemoglobin of 8.6 g/dl with normal leucocyte and platelet counts. The bone marrow aspirate was hypercellular with granulocytic hyperplasia, normal megakaryopoiesis and erythroid hypoplasia and dysplasia. Neither splenomegaly nor chromosomal abnormalities were observed. A diagnosis of refractory anaemia was made: the patient remained asymptomatic for 16 months. In December 1990 no pathological findings were observed except for a mildly enlarged liver: ecotomography confirmed the normal size of the spleen. A thorough search for primitive or metastatic cancer yielded no result. For peripheral blood parameters see Table I. On peripheral blood cells a clonal
chromosomal abnormality was detected consisting oft( 5;12) (q33:p12.3) in 100% of the examined mitoses. On the bone-marrow biopsy dysplasia and collagenization were evident. Moreover myeloblasts and promyelocytes were abnormally located to form aggregates centrally in the marrow. A stable 5-month period followed. In May 1991 severe anaemia and thrombocytopenia developed rather quickly (Table I). Petechiae and ecchymoses on the limbs and a barely palpable spleen were detected. The patient was put on a regimen consisting of cytosine arabinoside (ARA-C 70 mg/m2 S.C. once a week), thioguanine ( 3 5 mgjrn? p.o.4 d a week) and erythropoietin (50 Ujkg S.C. 3 d a week) later substituted by danazol ( 3 mg/kg/d). After 5 months the platelet count reached 203 x 10’11 and the white cell count decreased to 5 . 1 x 1OY//1(no blasts), but the degree of anaemia remained unchanged. After further 4 months of treatment the clinical and haematological state improved considerably. On bone marrow aspiration the same chromosomal abnor-
Table I
December 1 9 90 Peripheral blood Hb (g!dl) MCV (fl) \I.’BC x 1 O Y / l
Monocytes x 10’ I Plt x IOY/I YAP score (normal 20-100) Cell features
Mononucleated cell surface markers
GIM-CFC
Hone marrow Cellularity (%I Blast cells (%) (’ell features Erythroid
hlyeloid Megakaryocytrs Fibrosis (scoring system of Zlanoharan rr nl. 1 9 7 9 )
May 1991
--
9.;
i‘i
89.9 13.6
Presence of immature myeloid cells: some erythroblasts; no blasts 1 36 ’
92.3 17.0 Prcsence of immature myeloid cells: several erythroblasts: 2% blasts 1.8;
143
14
0 Schistocytes. tear-drop poikilocytes. PMN with ring shaped nuclei. giant platelets T C D l l B + : --t CD14+
-
January 1 9 9 2
1 3 .5 115 7 .4 6 Only mature cells: no erythroblasts: no blasts
0.45 269 12 Moderate anisocytosis, macrocytosis. no poikilocytosis, normal WBC and PLT Normal
Two-fold increase scattered clusters
90 10 Cytoplasmatic vacuolization. abnormal maturation
Hypogranulated Small: hypolobulated Grade 4
80
British Journal of Haematology, 1992, 82
Case Reports
MYELODYSPLASTIC SYNDROME ASSOCIATED WITH INCREASED BONE MARROW FIBROSIS AND TRANSLOCATION (5:12)(q33 p l 2 . 3 ) In primary myelodysplastic syndromes (MDS) striking myelofibrosis with collagenization is unusual (Tricot rt nl. 1984: Pagliuca rt al, 1989; Lambertenghi-Deliliers rt nl. 199 1: Verhoefet al, 1991). We report on a patient with primary MDS. leucoerythroblastosis. a n uncommon chromosomal abnormality and diffuse bone marrow fibrosis with areas of collagenization. In August 1989 the patient, a 52-year-old white male. had been found to have haemoglobin of 8.6 g/dl with normal leucocyte and platelet counts. The bone marrow aspirate was hypercellular with granulocytic hyperplasia, normal megakaryopoiesis and erythroid hypoplasia and dysplasia. Neither splenomegaly nor chromosomal abnormalities were observed. A diagnosis of refractory anaemia was made: the patient remained asymptomatic for 16 months. In December 1990 no pathological findings were observed except for a mildly enlarged liver: ecotomography confirmed the normal size of the spleen. A thorough search for primitive or metastatic cancer yielded no result. For peripheral blood parameters see Table I. On peripheral blood cells a clonal
chromosomal abnormality was detected consisting oft( 5;12) (q33:p12.3) in 100% of the examined mitoses. On the bone-marrow biopsy dysplasia and collagenization were evident. Moreover myeloblasts and promyelocytes were abnormally located to form aggregates centrally in the marrow. A stable 5-month period followed. In May 1991 severe anaemia and thrombocytopenia developed rather quickly (Table I). Petechiae and ecchymoses on the limbs and a barely palpable spleen were detected. The patient was put on a regimen consisting of cytosine arabinoside (ARA-C 70 mg/m2 S.C. once a week), thioguanine ( 3 5 mgjrn? p.o.4 d a week) and erythropoietin (50 Ujkg S.C. 3 d a week) later substituted by danazol ( 3 mg/kg/d). After 5 months the platelet count reached 203 x 10’11 and the white cell count decreased to 5 . 1 x 1OY//1(no blasts), but the degree of anaemia remained unchanged. After further 4 months of treatment the clinical and haematological state improved considerably. On bone marrow aspiration the same chromosomal abnor-
Table I
December 1 9 90 Peripheral blood Hb (g!dl) MCV (fl) \I.’BC x 1 O Y / l
Monocytes x 10’ I Plt x IOY/I YAP score (normal 20-100) Cell features
Mononucleated cell surface markers
GIM-CFC
Hone marrow Cellularity (%I Blast cells (%) (’ell features Erythroid
hlyeloid Megakaryocytrs Fibrosis (scoring system of Zlanoharan rr nl. 1 9 7 9 )
May 1991
--
9.;
i‘i
89.9 13.6
Presence of immature myeloid cells: some erythroblasts; no blasts 1 36 ’
92.3 17.0 Prcsence of immature myeloid cells: several erythroblasts: 2% blasts 1.8;
143
14
0 Schistocytes. tear-drop poikilocytes. PMN with ring shaped nuclei. giant platelets T C D l l B + : --t CD14+
-
January 1 9 9 2
1 3 .5 115 7 .4 6 Only mature cells: no erythroblasts: no blasts
0.45 269 12 Moderate anisocytosis, macrocytosis. no poikilocytosis, normal WBC and PLT Normal
Two-fold increase scattered clusters
90 10 Cytoplasmatic vacuolization. abnormal maturation
Hypogranulated Small: hypolobulated Grade 4
80
