Ring chromosomes in dermatofibrosarcoma protuberans contain chromosome 17 sequences: Fluorescence in situ hybridization

Ring chromosomes in dermatofibrosarcoma protuberans contain chromosome 17 sequences: Fluorescence in situ hybridization

LETTERS TO THE EDITOR Ring Chromosomes in Dermatofibrosarcoma Protuberans Contain Chromosome 17 Sequences: Fluorescence In Situ Hybridization Dermato...

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LETTERS TO THE EDITOR Ring Chromosomes in Dermatofibrosarcoma Protuberans Contain Chromosome 17 Sequences: Fluorescence In Situ Hybridization

Dermatofibrosarcoma protuberans (DFSP) is an u n c o m m o n low-grade t u m o r of the deep dermis c o n s i d e r e d by some investigators to be related to fibrohistiocytic tumors [1]. To our knowledge, only five cases of DP with c h r o m o s o m e aberrations have been reported [2-5]. The c o m m o n cytogenetic feature in all cases was the presence of one or two supernumerary ring chromosomes. These extra rings a p p e a r e d either as the sole cytogenetic a b n o r m a l i t y or in association with simple numerical c h r o m o s o m e changes. Except in one case in w h i c h the G- and C-banding patterns of the ring suggested that it contained part of chromosome I [3], the rings observed in the four other cases were unidentified. We now report two new DFSP cases with ring chromosomes w h i c h were analyzed by fluorescence in situ hybridization (HSH) using centromeric and w h o l e c h r o m o s o m e painting (WCP) probes to determine the origin of the rings. S p e c i m e n T91125 was excised in November 1991 from a local recurrence of a cutaneous presternal tumor in a 59-yearold woman. Pathology showed a DFSP. Specimen T91127 was from the sixth local recurrence of a subcutaneous t u m o r in the occipital scalp area in a 43-year-old man referred in November 1991. The pathologic diagnosis of the p r i m a r y tumor was m a d e 13 years earlier and was revised from a neurofibromatosis at the time of the third recurrence to DFSP. Pathology of the s p e c i m e n u n d e r study confirmed DFSP. The specimens were cultured according to the procedure described by Limon et al. [6]. Cytogenetic analysis was performed on short-term (2-20 days) cultures. Metaphase spreads were p r e p a r e d according to usual procedures. Chromosomes were RHG-banded. Twenty metaphases were scored for each tumor. In both cases, approximately 50% of the metaphases were abnormal, with the following karyotypes: 49,XX, + 5, + 8, + r and 46,XY, der(5)t(5;13)(p11;q11), - 13, der(17)t(17;?)(p13;?),-18, + r(di and tricentric)/47, idem, + r i n specimens T91125 and T9112Z respectively. Centromeric and WCP probes were used according to the manufacturer's instructions. They i n c l u d e d biotinylated u-satellite DNA probes specific to chromosomes 1, 5, Z 8, 11, 12, 15, 17, 18 and X, biotinylated WCP DNA probes specific to chromosome 17 (Oncor, U.S.A.) and direct-labeled WCP DNA probes specific to chromosomes I (GIBCO-BRL, France). FISH experiments showed that 1) although the origin of the centromere of the ring from T91125 r e m a i n e d unidentified, the centromeres of the di- and tricentric rings from T91127 were donated by chromosome 17; and 2) the ring chromosomes in both samples contained sequences of chromo-

some 17. The c h r o m o s o m e 17 sequences were distributed differently, however. With the WCP DNA probe for chromosome 17, the ring c h r o m o s o m e from T91125 showed narrow positive bands alternating with u n k n o w n material whereas both the rings from "1"91127were painted homogeneously. Determination of w h i c h gene(s) from c h r o m o s o m e 17 is (are} present in these ring chromosomes and demonstration of their possible role in the pathogenesis of DFSP will require further study. This work was supported by CNRS and grants from INSERM, the Association pour la Recherche sur le Cancer, the Federation Nationale des Centres de Lutte contre le Cancer. FLORENCE PEDEUTOUR

Laboratoire de G~n~tique Mol~culaire des Cancers Humains URA CNRS 1462 Nice, France

JEAN-MICHEL COINDRE Laboratoire d~natomopathologie Fondation Bergoni6, Bordeaux, France GUIDO NICOI£)

Laboratorio di Citoistologia Patologica Istituto Nazionale per la Ricerca sul Cancro Genova, Italy

COLETTE BOUCHOT Laboratoire de G~n~tique Mol~culaire NOEL AYRAUD des Cancers Humains, URA CNRS 1462 CLAUDE TURC CAREL Nice, France

REFERENCES 1. Enzinger FM, Weiss SW (1988): Soft Tissue Tumors, 2nd Ed. C.V. Mosby, St Louis. 2. Bridge JA, Neff JR, Sandberg AA (1900): Cytogenetic analysis of dermatofibrosarcoma protuberans. Cancer Genet Cytogenet 49:199-202. 3. Mandahl N, Heim S, Willen H, Rydholm A, Mitelman F (1990): Supernumerary ring chromosome as the sole cytogenetic abnormality in a dermatofibrosarcoma protuberans. Cancer Genet Cytogenet 49: 273-275. 4. Stephenson CF, Berger CS, Leong SPL, Davis JR, Sandberg AA (1992): Ring chromosome in a dermatofibrosarcoma protuberans. Cancer Genet Cytogenet 58:52-54. 5. Orndal C, Mandahl N, Rydholm A, Willen H, Brosj6 O, Helm S, Mitelman F (1992}: Supernumerary ring chromosomes in five bone and soft tissue tumors of low or borderline malignancy. Cancer Genet Cytogenet 60:170-175. 6. Limon J, dal Cin P, Sandberg AA (1986): Application of longterm collagenase disaggregation for the cytogenetic analysis of human solid tumor. Cancer Genet Cytogenet 23:305-312. 149

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Cancer Genet Cytogenet 67:149 (1993) 0165-4608/93/$06.00