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A consistent chromosome translocation in synovial sarcoma
LETTERS TO THE EDITOR A Consistent Chromosome Translocation in Synovial Sarcoma Recently, a specific chromosome change t(12;16) has been described in myxoid liposarcoma [1]. Here we present evidence that a second category of h u m a n soft tissue s a r c o m a - - s y n o v i a l s a r c o m a - - m a y also be characterized by a specific chromosome abnormality. Results from three patients are reported. Histologically, each case showed characteristic features of synovial sarcoma [2, 3]. One patient (case 1) had a recurrent tumor of biphasic morphology although she had originally presented with a monophasic tumor. Two patients (cases 2 and 3) had monophasic tumors. Cultures were initiated from the three tumor biopsies and cells harvested for chromosome analysis after 4-13 days. In all three cases the translocation t(X;18)(p11.2;q11.2) was present as a consistent abnormality, G-banded partial karyotypes are presented (Fig. 1).
(3
X
b
der18
18
derX
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X
18
derX
J t(X ;3)
der18
18
derX
3 t(X; 3)
Figure 1. G-banded partial karyotypes of three synovial sarcomas showing t(X;18) (p11.2;q11.2): (a) case 1: a cell with the full karyotype 44,X,t(X;18)(p11.2;q11.2), tdic(10;ll)(p11.2;p11.2),- 14,t(19;?)(q13.2;?),del(20)(q11.2),tdic(22;?)(q11.2;?); (b) case2: a cell with the full karyotype 46,X,der(X)t(X;18)(pll.2;q11.2),t(4;?)(p12;?),t(5;12)(q31;q22), del(5)(q22), + 15,-18. Note that der(18) is not identifiable in cells from this case; (c) case3: a cell with the full karyotype 46,t(X;3)(q22;q27),t(X;18)(p11.2;q11.2),del(6)(q15q21),del(7) (pter--~p15::p13--~q22::q32--~qter),t(12;?)(p11.2;?),t(12;17)(q21;q12),t(22;?)(p11.2;?).
Received July 14, 1986; accepted A u g u s t 4, 1986.
179 © 1987 Elsevier Science Publishing Co., Inc. 52 Vanderbilt Ave., New York, NY 10017
Cancer Genet Cytogenet 26:179-180(1987) 0165-4608/87/$03.50
"180
S. S m i t h et al.
T h e r e are few r e p o r t s of t h e i n v o l v e m e n t of e i t h e r t h e X c h r o m o s o m e or c h r o m o s o m e # 1 8 in s t r u c t u r a l k a r y o t y p i c c h a n g e s in s o l i d t u m o r s [4]. W e k n o w of t w o p r e v i o u s r e p o r t s of the c h r o m o s o m e c o n s t i t u t i o n of s y n o v i a l s a r c o m a s . O n e cont e r n s the U - 4 S S cell line, w h e r e four m a r k e r s w e r e d e s c r i b e d n o n e of w h i c h inv o l v e d t h e X or # 1 8 . T h e o r i g i n of a fifth m a r k e r w a s u n k n o w n 15]. T h e s e c o n d r e p o r t d e s c r i b e d h y p o d i p l o i d t u m o r cells f r o m a s h o r t - t e r m c u l t u r e w i t h t h e m i s s ing c h r o m o s o m e s b e i n g m o s t l y X, Y, # 1 0 , or # 1 9 . H o w e v e r , s t r u c t u r a l a b n o r m a l i ties of e i t h e r X or # 1 8 w e r e not n o t e d [6]. T h e p r e s e n c e of an i d e n t i c a l t r a n s l o c a t i o n t(X;18)(p11.2;q11.2) in e v e r y cell ana l y z e d from e a c h of t h e t h r e e t u m o r s w e e x a m i n e d s u g g e s t s t h a t t h i s is a p r i m a r y k a r y o t y p i c c h a n g e , h A - m f - l , a m e m b e r of t h e r a f o n c o g e n e g r o u p , h a s b e e n m a p p e d to X p 1 1 - X p 1 3 [7], a r e g i o n t h a t i n c l u d e s the X c h r o m o s o m e b r e a k p o i n t in t h e t r a n s l o c a t i o n r e p o r t e d here. W e are c u r r e n t l y i n v e s t i g a t i n g w h e t h e r or n o t t h e s t r u c t u r e or r e g u l a t i o n of t h e h A - t a r - 1 g e n e is a l t e r e d in s y n o v i a l s a r c o m a . The authors thank Prof. G. Westbury for providing the biopsy material and for his interest in this study. SANDRA SMITH BRIAN R. REEVES LESLIE WONG
CYRIL FISHER
Section of Human Genetics Institute of Cancer Research Royal Marsden Hospital London SW3 6JJ, England Department of Histopathology Royal Marsden Hospital London SW3 6JJ, England
REFERENCES 1. Limon J, Turc-Carel C, Dal Cin P, Rao U, Sandberg AA (1986): Recurrent chromosome translocations in liposarcoma. Cancer Genet Cytogenet 22:93 94. 2. Enzinger FM. Weiss SW (1983): Soft Tissue Tumors. C.V. Mosby Co., St. Louis. 3. Fisher C (1986): Synovial sarcoma. Ultrastructural and immunohistochemical features of epithelial differentiation in monophasic and biphasic tumors. Hum Pathol (in press) 4. Mitelman F (19851: Catalog of Chromosome Aberrations in Cancer, 2nd Ed. Alan R Liss, NY. 5. Phan Thu A, Zajac V, Kuliffay P, Dopovic M (1980): Karyological and isoenzyme characterization of established h u m a n sarcoma cell lines. Neoplasma (Bratisl/ 27:557 566. 6. Becher R, Wake N, Gibas Z, Ochi H, Sandberg AA (1984): Chromosome changes in soft tissue sarcomas. I Natl Cancer Inst 72:823-831. 7. Huebner K, Ar-Rushdi A, Griffin CA, Isobe M, Kozak C, Emanuel BS, Nagarajan L, Cleveland JL, Bonner TI, Goldsborougb MD, Croce CM, Rapp U( 1986): Actively transcribed genes in the raf oncogene group, located on the X chromosome in mouse and human. Proc N a t l A c a d Sci USA 83:3934 3938.
(3
X
b
der18
18
derX
tp
;,
¸
X
18
derX
J t(X ;3)
der18
18
derX
3 t(X; 3)
Figure 1. G-banded partial karyotypes of three synovial sarcomas showing t(X;18) (p11.2;q11.2): (a) case 1: a cell with the full karyotype 44,X,t(X;18)(p11.2;q11.2), tdic(10;ll)(p11.2;p11.2),- 14,t(19;?)(q13.2;?),del(20)(q11.2),tdic(22;?)(q11.2;?); (b) case2: a cell with the full karyotype 46,X,der(X)t(X;18)(pll.2;q11.2),t(4;?)(p12;?),t(5;12)(q31;q22), del(5)(q22), + 15,-18. Note that der(18) is not identifiable in cells from this case; (c) case3: a cell with the full karyotype 46,t(X;3)(q22;q27),t(X;18)(p11.2;q11.2),del(6)(q15q21),del(7) (pter--~p15::p13--~q22::q32--~qter),t(12;?)(p11.2;?),t(12;17)(q21;q12),t(22;?)(p11.2;?).
Received July 14, 1986; accepted A u g u s t 4, 1986.
179 © 1987 Elsevier Science Publishing Co., Inc. 52 Vanderbilt Ave., New York, NY 10017
Cancer Genet Cytogenet 26:179-180(1987) 0165-4608/87/$03.50
"180
S. S m i t h et al.
T h e r e are few r e p o r t s of t h e i n v o l v e m e n t of e i t h e r t h e X c h r o m o s o m e or c h r o m o s o m e # 1 8 in s t r u c t u r a l k a r y o t y p i c c h a n g e s in s o l i d t u m o r s [4]. W e k n o w of t w o p r e v i o u s r e p o r t s of the c h r o m o s o m e c o n s t i t u t i o n of s y n o v i a l s a r c o m a s . O n e cont e r n s the U - 4 S S cell line, w h e r e four m a r k e r s w e r e d e s c r i b e d n o n e of w h i c h inv o l v e d t h e X or # 1 8 . T h e o r i g i n of a fifth m a r k e r w a s u n k n o w n 15]. T h e s e c o n d r e p o r t d e s c r i b e d h y p o d i p l o i d t u m o r cells f r o m a s h o r t - t e r m c u l t u r e w i t h t h e m i s s ing c h r o m o s o m e s b e i n g m o s t l y X, Y, # 1 0 , or # 1 9 . H o w e v e r , s t r u c t u r a l a b n o r m a l i ties of e i t h e r X or # 1 8 w e r e not n o t e d [6]. T h e p r e s e n c e of an i d e n t i c a l t r a n s l o c a t i o n t(X;18)(p11.2;q11.2) in e v e r y cell ana l y z e d from e a c h of t h e t h r e e t u m o r s w e e x a m i n e d s u g g e s t s t h a t t h i s is a p r i m a r y k a r y o t y p i c c h a n g e , h A - m f - l , a m e m b e r of t h e r a f o n c o g e n e g r o u p , h a s b e e n m a p p e d to X p 1 1 - X p 1 3 [7], a r e g i o n t h a t i n c l u d e s the X c h r o m o s o m e b r e a k p o i n t in t h e t r a n s l o c a t i o n r e p o r t e d here. W e are c u r r e n t l y i n v e s t i g a t i n g w h e t h e r or n o t t h e s t r u c t u r e or r e g u l a t i o n of t h e h A - t a r - 1 g e n e is a l t e r e d in s y n o v i a l s a r c o m a . The authors thank Prof. G. Westbury for providing the biopsy material and for his interest in this study. SANDRA SMITH BRIAN R. REEVES LESLIE WONG
CYRIL FISHER
Section of Human Genetics Institute of Cancer Research Royal Marsden Hospital London SW3 6JJ, England Department of Histopathology Royal Marsden Hospital London SW3 6JJ, England
REFERENCES 1. Limon J, Turc-Carel C, Dal Cin P, Rao U, Sandberg AA (1986): Recurrent chromosome translocations in liposarcoma. Cancer Genet Cytogenet 22:93 94. 2. Enzinger FM. Weiss SW (1983): Soft Tissue Tumors. C.V. Mosby Co., St. Louis. 3. Fisher C (1986): Synovial sarcoma. Ultrastructural and immunohistochemical features of epithelial differentiation in monophasic and biphasic tumors. Hum Pathol (in press) 4. Mitelman F (19851: Catalog of Chromosome Aberrations in Cancer, 2nd Ed. Alan R Liss, NY. 5. Phan Thu A, Zajac V, Kuliffay P, Dopovic M (1980): Karyological and isoenzyme characterization of established h u m a n sarcoma cell lines. Neoplasma (Bratisl/ 27:557 566. 6. Becher R, Wake N, Gibas Z, Ochi H, Sandberg AA (1984): Chromosome changes in soft tissue sarcomas. I Natl Cancer Inst 72:823-831. 7. Huebner K, Ar-Rushdi A, Griffin CA, Isobe M, Kozak C, Emanuel BS, Nagarajan L, Cleveland JL, Bonner TI, Goldsborougb MD, Croce CM, Rapp U( 1986): Actively transcribed genes in the raf oncogene group, located on the X chromosome in mouse and human. Proc N a t l A c a d Sci USA 83:3934 3938.