Hum. Genet. 48, 109--111 (1979) © by Springer-Verlag 1979

Short Communications

Chronic Myelogenous Leukemia With an Unusual Karyotype A n n a P a n a n i , A. G. P a p a y a n n i s , a n d C. Gardikas* Professorial Medical Unit, Research Laboratory, Evangelismos Hospital, Athens 140, Greece

The o b s e r v a t i o n that in chronic myelogenous leukemia (CML) the deleted material of c h r o m o s o m e 22 is translocated onto the long arm of c h r o m o s o m e 9 (Rowley, 1973) has been confirmed as a consistent a b n o r m a l i t y , b u t examples of t r a n s l o c a t i o n to other sites have been cited (for references see Lawler, 1977). It seems that the site of a t t a c h m e n t of the deleted material of c h r o m o s o m e 22 does not affect the course of the disease, b u t more cases with u n u s u a l translocations must be studied before this assertion is confirmed. A m o n g 20 cases of Ph'-positive C M L studied with the aid of the G - b a n d i n g technique, we f o u n d two cases with u n u s u a l translocations of the deleted material of c h r o m o s o m e 22.

Case 1 The patient, a female 70 years old, was admitted to the Hospital in February 1977 because of fatigue. On admission, hematologic studies revealed PCV 31%, WBC 160× 109/liter, and platelets 200 × 109/liter. Bone marrow aspirates showed a picture typical of CML. The spleen was enlarged 4 cm below the left costal margin. Examination of a chromosome preparation from bone marrow cells by the G-banding technique, as described elsewhere (Panani et al., 1977), showed that in a large proportion of cells the long arm of chromosome 22 was translocated onto the long arm of chromosome 17 (Fig. 1). No changes of chromosome 9 were observed. Chromosome study of phytohemagglutinin(PHA)-stimulated peripheral blood lymphocyte cultures showed a normal karyotype. Treatment with busulfan for 8 months was unsuccessful. Hydroxyurea was subsequently given, with an unsatisfactory result. The spleen has slightly decreased in size and the WBC is still raised.

Case 2 The patient, a male 50 years old, was admitted to the Hospital in June 1977. On admission, hematologic studies revealed PCV 30%, WBC 130 x 109/liter, and platelets 220 x 109/liter. The *

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Fig. 1. Giemsa-banding karyotype showing the translocation between chromosomes 17 and 22. 46,XX,t(17q+;22q-)

spleen was enlarged 3 cm below the left costal margin. Bone marrow aspirates showed a picture typical of CML. Examination of a chromosome preparation from bone marrow cells by the Gbanding technique revealed that the case was Ph'-positive, with the deleted material of chromosome 22 translocated onto the long arm of chromosome 16 (Fig. 2). Peripheral blood lymphocyte cultures stimulated with PHA showed a normal karyotype. The patient responded to busulfan treatment and did well for 7 months until January 1978, when a blastic crisis developed. At that time the WBC was 64 × 109/liter with 57% blasts and the platelet count was 1,300 × 109/liter. Bone marrow aspirates confirmed a blastic crisis of CML. Chromosome preparation from the peripheral blood cultivated without PHA showed a karyotype similar to the initial one, without additional changes. The patient has since been treated with (a) prednisone + vincristine, (b) rubidomycin + cytosine arabinoside, and (c) hydroxyurea. He is still alive 8 months after the onset of the blastic crisis, with a palpable spleen and leukocytosis with > 50% blasts.

M a t s u n a g a et al. (1976) h a v e p u b l i s h e d a case o f P h ' - p o s i t i v e C M L w i t h a t r a n s l o c a t i o n s i m i l a r to t h a t d e s c r i b e d in o u r case 1. T h e t r a n s l o c a t i o n o b s e r v e d in o u r case 2 is a n e w t y p e i n v o l v i n g c h r o m o s o m e s 16 a n d 22, w h i c h has n o t b e e n d e s c r i b e d in t h e l i t e r a t u r e b e f o r e .

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Fig. 2. Giemsa-banding karyotype showing the translocation between chromosomes 16 and 22. 46,XY,t(16q+;22q-)

References Lawler, S. D.: The cytogenetics of chronic granulocytic leukaemia. Clin. Haematol. 6, 55--75 (1977) Matsunaga, M., Sadamori, N., Tomonaga, V., Togawa, M., lchimaru, M.: Chronic myelogenous leukemia with an unusual karyotype: 46,XY,t(17q+;22q-). N. Engl. J. Med. 295, 1537 (1976) Panani, A., Papayannis, A., Kyrkou, K., Gardikas, C.: Cytogenetic studies in preleukaemia using the G-banding staining technique. Scand. J. Haematol. 18, 301--308 (1977) Rowley, J. D.: A new consistent chromosomal abnormality in chronic myelogenous leukemia identified by quinacrine and Giemsa staining. Nature 234, 290--293 (1973) Received October 11, 1978

Chronic myelogenous leukemia with an unusual karyotype.

Hum. Genet. 48, 109--111 (1979) © by Springer-Verlag 1979 Short Communications Chronic Myelogenous Leukemia With an Unusual Karyotype A n n a P a n...
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