GENES, CHROMOSOMES d2 CANCER 4~89-91 (1992) ?*
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BRIEF COMMUNICATION
Ring Chromosomes in a Retroperitoneal Lipoma of Childhood Erika L.D. Mitchell, Anna Kelsey, Gordon Armstrong, and Alan Dickson CRC Department of Cancer Genetics, Paterson Institute for Cancer Research (E.L.D.M.), Royal Manchester Childrens Hospital, Pendiebury (A.K., G.A.). and Department of Surgery, Booth Hall Childrens Hospital (A.D.), Manchester, United Kingdom
W e report here the presence of ring chromosomes in a retroperitoneal lipoma from a 12-year-old male. Ring chromosomes are strongly associated with the pathological subtype “atypical lipoma” in adults. In contrast, however, the tumour described here possesses no atypical features. Genes Chrom Cancer 4239-9I ( I 992).
Despite a number of cytogenetic studies on lipomas in adults, no cytogenetic data are available on lipomas in children. These benign tumours are very rare in children (Rydholm and Berg, 1983)and accounted for only two of 190 tumours in a series of childhood retroperitoneal neoplasms (Hastings et al., 1961).The most consistent chromosomal change observed in lipomas in adults is rearrangement of chromosome bands 12qlS14, most often in the form of translocations with other chromosomes, particularly t(3;12)(q27-28;qlSl4) (Heim et al., 1986; Turc-Care1et al., 1986; Mandahl et al., 1987; Dal Cin et al., 1988 Heim et al., 1988; Turc-Care1et al., 1988; Sreekantaiah et al., “a). Additional chromosome abnormalities include ring marker chromosomes, which have been nonrandomly associated with atypical lipomas (Heim et al., 1988), chromosome aberrations in the 6p22-23 region (Sait et al., 1989;Haus et al., 1990; Sreekantaiah et al., Mob), and rearrangements involving chromosome 13 (Sreekantaiah et al., 1989). We report here cytogenetic data on a lipoma from a 12-year-oldmale. He presented with a 6 month history of loose stools and on examination was found to have a mass in the left iliac fossa. A computed tomography (CT) scan showed a soft tissue mass extending from the lower pole of the left kidney down to the side of the pelvis. At laparatomy, a well-circumscribed retroperitoneal fatty tumour was resected. The tumour was encapsulated, measured 19 x 19 x 8 cm, and weighed 1,175 gm. The cut surface was yellow and fatty and showed a few delicate incomplete fibrous septae and some focal areas of fibrosis around the periphery. Multiple sections showed a benign lipoma with no atypical features (Fig. 1).In one area, the fibrous septae showed metaplastic cartilage (Fig. 2). The patient has now been followed for 13 months and is free of tumour. The tumour sample obtained for cytogenetic study was adjacent to one of the sections used for the histopathological analysis. The sample was mechani0 1992 WILEY-LISS, INC.
cally disaggregated, and the cells were cultured for 21-28 days at 37°C in an atmosphere of 5% C02 in RPMI 1640 medium supplemented with 15% fetal bovine serum, 1% L-glutamine, penicillin, and streptomycin. Chromosome preparations were made according to standard procedures and analysed using GTG banding. A total of 11 cells were analysed. Five cells possessed one large ring chromosome, three cells possessed one large ring and one small ring chromosome, one cell possessed one large and two small rings, and two cells were normal. The tumour therefore had the composite karyotype 47 - 49,XY,+ 1- 3r (Fig. 3). It was not possible to identify the origin of the ring chromosomes. Ring chromosomes have been reported in lipomas from adults (Heim et al., 1987, 1988)and are strongly associated with the pathological subtype solitary atypical lipoma. However, their occurrence in adult lipomas is infrequent, and in a recent study of 109 lipomas only one case had amongst other karyotypic changes a ring chromosome (Sreekantaiah et al., 1991). Unidentified ring chromosomes have also been observed in adult liposarcomas exhibiting a well-differentiated histologic subtype (Turc-Care1et al., 1987). Adult atypical lipomas were in the past included among the well-differentiatedliposarcomas (Evans et al., 1979), and Heim et al. (1988) suggest that their “atypical lipomas” and well differentiated liposarcomas may represent the same type of recurrenceprone borderline lipogenic tumour. The tumour described here possessed no atypical or malignant features; therefore, the finding of ring chromosomesin this tumour is not in keeping with the observations in adult lipogenic tumours. It would be interesting to Received May 6, 1991; accepted June 25, 1991. Address reprint requests to Erika L.D. Mitchell, CRC Department of Cancer Genetics, Paterson Institute for Cancer Research, Wilrnslow Road, Manchester MZO 9BX, United Kingdom.
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Figure I. Representative lipoma section showing mature adipose tissue with no atypical features. x 250.
Figure 2.
Metaplastic cartilage in the fibrous zeptae of the lipoma.
carry out cytogenetic analysis on a series of childhood lipogenic tumours to see if different karyotypic features are associated with particular tumour subtypes. ACKNOWLEDGMENTS
The authors thank Mr. B. Woodhouse for his technical assistance. This work was supported by the Cancer Research Campaign (E.L.D.M.). REFERENCES Dal Cin P, Turc-Carel C, Sandberg A4 (1988) Consistent involvement of band 12q14 in two different translocations in three lipomas from the same patient. Cancer Genet Cytogenet 31:237-240.
X
100.
Evans HL, Soule EH, Winkelman RK (1979) Atypical lipoma, atypical intramuscular lipoma and well differentiated retroperitoneal liposarcoma. A reappraisal of 30 cases formerly classified as well differentiated liposarcoma. Cancer 0574-585, Hastings N, Pollock WF, Synder W Jr (1961) Retroperitoneal tumours in infants and children. Arch Surg 8295&973. Haus 0, Collin F, Fraisse J, Mark-Vendel E, Mugneret F, Turc-Carel C (1990) New example of 6p involvement in lipoma. Cancer Genet Cytogenet 48281-283. Heim S, Mandahl N, Kristoffersson U, Mitelman F, Riiiiser B, Rydholm A, WillCn H (1986) Reciprocal translocation t(3;12xq27;q13) in lipoma. Cancer Genet Cytogenet 23301-304. Heim S, Mandahl N, Kristoffersson U, Mitelman F, Rijijser B, Rydholm A, WillCn H (1987) Marker ring chromosome-a new cytogenetic abnormality characterizing lipogenic tumors? Cancer Genet Cytogenet 24:319-326. Heim S, Mandahl N, Rydholm A, WillCn H, Mitelman F (1988)Different karyotypic features characterize different clinico-pathologic subgroups of benign lipogenic tumors. Int J Cancer 428624367,
RING MARKER CHROMOSOMES IN A CHILDHOOD LIPOMA
Figure 3.
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GTG-banded karyotype showing the large ring chromosome. Inset: Ring chromosomes from other cells.
Mandahl N, Heim S, Johansson B, Bennet K, Mertens F, Olsson G, Rijijser B, Rydholm A, Willen H, Mitelman F (1987) Lipomas have characteristic structural chromosomal rearrangements of 12q13q14. Int J Cancer 39:685-688. Rydholm A, Berg NO (1983) Size, site and clinical incidence of lipoma. Factors in the differential diagnosis of lipoma and sarcoma. Acta M o p Scand 5 4 9 S 9 3 4 . Sait SNJ, Dal Cin P, Sandberg AA, Leong S, Karakousis C, Rao U, Hams K (1989) Involvement of 6p in benign lipomas. A new cytogenetic entity? Cancer Genet Cytogenet 37281-283. Sreekantaiah C, Bergex CS, Karakousis CP, Rao U, Leong SPL, Sandberg AA (1989) Cytogeneticsubtype involving chromosome 13 in lipoma. Report of three cases. Cancer Genet Cytogenet 3928-288. Sreekantaiah C, Leong SPL, Sandberg AA (199Oa)Complex cytogenetic changes in benign neoplasms. Report of six lipomas. Cancer Genet Cytogenet 47313-130.
Sreekantaiah C, Leong SPL, Fleming S, Sandberg AA (199Ob)Translocation (2;6Xq36p21.3)in a lipoma. Cancer Genet Cytogenet 45:81-&1. Sreekantaiah C, Leong SPL, Karakousis CP, McGee DL, Rappaport WD, Villar HV, Neal D, Fleming S, Wankel A, Herrington PN, Carmona R, Sandberg AA (1991) Cytogenetic profile of 109 lipomas. Cancer Res 51:422433. Turc-Carel C, Dal Cin P, Rao U, Karakousis C, Sandberg AA (1986) Cytogenetic studies of adipose tissue .I. A benign lipoma with reciprocal translocation t(3;12)(q28,q14). Cancer Genet Cytogenet 2328% 289. Turc Carel C, Dal Cin P, Limon J, Gibas Z, Kakati S, Pieztak E, Parry D, Li F, Sandberg AA (1987) Cytogenetic and molecular studies of adipose tissue tumors (abstract). Cancer Genet Cytogenet 2833. Turc-Carel C, Dal Cin P, Ebghosian L, Leong SPL, Sandberg AA (1988) Breakpoints in benign lipoma may be at 12q13 or 12q14. Cancer Genet Cytogenet 36131-135.
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BRIEF COMMUNICATION
Ring Chromosomes in a Retroperitoneal Lipoma of Childhood Erika L.D. Mitchell, Anna Kelsey, Gordon Armstrong, and Alan Dickson CRC Department of Cancer Genetics, Paterson Institute for Cancer Research (E.L.D.M.), Royal Manchester Childrens Hospital, Pendiebury (A.K., G.A.). and Department of Surgery, Booth Hall Childrens Hospital (A.D.), Manchester, United Kingdom
W e report here the presence of ring chromosomes in a retroperitoneal lipoma from a 12-year-old male. Ring chromosomes are strongly associated with the pathological subtype “atypical lipoma” in adults. In contrast, however, the tumour described here possesses no atypical features. Genes Chrom Cancer 4239-9I ( I 992).
Despite a number of cytogenetic studies on lipomas in adults, no cytogenetic data are available on lipomas in children. These benign tumours are very rare in children (Rydholm and Berg, 1983)and accounted for only two of 190 tumours in a series of childhood retroperitoneal neoplasms (Hastings et al., 1961).The most consistent chromosomal change observed in lipomas in adults is rearrangement of chromosome bands 12qlS14, most often in the form of translocations with other chromosomes, particularly t(3;12)(q27-28;qlSl4) (Heim et al., 1986; Turc-Care1et al., 1986; Mandahl et al., 1987; Dal Cin et al., 1988 Heim et al., 1988; Turc-Care1et al., 1988; Sreekantaiah et al., “a). Additional chromosome abnormalities include ring marker chromosomes, which have been nonrandomly associated with atypical lipomas (Heim et al., 1988), chromosome aberrations in the 6p22-23 region (Sait et al., 1989;Haus et al., 1990; Sreekantaiah et al., Mob), and rearrangements involving chromosome 13 (Sreekantaiah et al., 1989). We report here cytogenetic data on a lipoma from a 12-year-oldmale. He presented with a 6 month history of loose stools and on examination was found to have a mass in the left iliac fossa. A computed tomography (CT) scan showed a soft tissue mass extending from the lower pole of the left kidney down to the side of the pelvis. At laparatomy, a well-circumscribed retroperitoneal fatty tumour was resected. The tumour was encapsulated, measured 19 x 19 x 8 cm, and weighed 1,175 gm. The cut surface was yellow and fatty and showed a few delicate incomplete fibrous septae and some focal areas of fibrosis around the periphery. Multiple sections showed a benign lipoma with no atypical features (Fig. 1).In one area, the fibrous septae showed metaplastic cartilage (Fig. 2). The patient has now been followed for 13 months and is free of tumour. The tumour sample obtained for cytogenetic study was adjacent to one of the sections used for the histopathological analysis. The sample was mechani0 1992 WILEY-LISS, INC.
cally disaggregated, and the cells were cultured for 21-28 days at 37°C in an atmosphere of 5% C02 in RPMI 1640 medium supplemented with 15% fetal bovine serum, 1% L-glutamine, penicillin, and streptomycin. Chromosome preparations were made according to standard procedures and analysed using GTG banding. A total of 11 cells were analysed. Five cells possessed one large ring chromosome, three cells possessed one large ring and one small ring chromosome, one cell possessed one large and two small rings, and two cells were normal. The tumour therefore had the composite karyotype 47 - 49,XY,+ 1- 3r (Fig. 3). It was not possible to identify the origin of the ring chromosomes. Ring chromosomes have been reported in lipomas from adults (Heim et al., 1987, 1988)and are strongly associated with the pathological subtype solitary atypical lipoma. However, their occurrence in adult lipomas is infrequent, and in a recent study of 109 lipomas only one case had amongst other karyotypic changes a ring chromosome (Sreekantaiah et al., 1991). Unidentified ring chromosomes have also been observed in adult liposarcomas exhibiting a well-differentiated histologic subtype (Turc-Care1et al., 1987). Adult atypical lipomas were in the past included among the well-differentiatedliposarcomas (Evans et al., 1979), and Heim et al. (1988) suggest that their “atypical lipomas” and well differentiated liposarcomas may represent the same type of recurrenceprone borderline lipogenic tumour. The tumour described here possessed no atypical or malignant features; therefore, the finding of ring chromosomesin this tumour is not in keeping with the observations in adult lipogenic tumours. It would be interesting to Received May 6, 1991; accepted June 25, 1991. Address reprint requests to Erika L.D. Mitchell, CRC Department of Cancer Genetics, Paterson Institute for Cancer Research, Wilrnslow Road, Manchester MZO 9BX, United Kingdom.
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90
MITCHELL ET A L
Figure I. Representative lipoma section showing mature adipose tissue with no atypical features. x 250.
Figure 2.
Metaplastic cartilage in the fibrous zeptae of the lipoma.
carry out cytogenetic analysis on a series of childhood lipogenic tumours to see if different karyotypic features are associated with particular tumour subtypes. ACKNOWLEDGMENTS
The authors thank Mr. B. Woodhouse for his technical assistance. This work was supported by the Cancer Research Campaign (E.L.D.M.). REFERENCES Dal Cin P, Turc-Carel C, Sandberg A4 (1988) Consistent involvement of band 12q14 in two different translocations in three lipomas from the same patient. Cancer Genet Cytogenet 31:237-240.
X
100.
Evans HL, Soule EH, Winkelman RK (1979) Atypical lipoma, atypical intramuscular lipoma and well differentiated retroperitoneal liposarcoma. A reappraisal of 30 cases formerly classified as well differentiated liposarcoma. Cancer 0574-585, Hastings N, Pollock WF, Synder W Jr (1961) Retroperitoneal tumours in infants and children. Arch Surg 8295&973. Haus 0, Collin F, Fraisse J, Mark-Vendel E, Mugneret F, Turc-Carel C (1990) New example of 6p involvement in lipoma. Cancer Genet Cytogenet 48281-283. Heim S, Mandahl N, Kristoffersson U, Mitelman F, Riiiiser B, Rydholm A, WillCn H (1986) Reciprocal translocation t(3;12xq27;q13) in lipoma. Cancer Genet Cytogenet 23301-304. Heim S, Mandahl N, Kristoffersson U, Mitelman F, Rijijser B, Rydholm A, WillCn H (1987) Marker ring chromosome-a new cytogenetic abnormality characterizing lipogenic tumors? Cancer Genet Cytogenet 24:319-326. Heim S, Mandahl N, Rydholm A, WillCn H, Mitelman F (1988)Different karyotypic features characterize different clinico-pathologic subgroups of benign lipogenic tumors. Int J Cancer 428624367,
RING MARKER CHROMOSOMES IN A CHILDHOOD LIPOMA
Figure 3.
91
GTG-banded karyotype showing the large ring chromosome. Inset: Ring chromosomes from other cells.
Mandahl N, Heim S, Johansson B, Bennet K, Mertens F, Olsson G, Rijijser B, Rydholm A, Willen H, Mitelman F (1987) Lipomas have characteristic structural chromosomal rearrangements of 12q13q14. Int J Cancer 39:685-688. Rydholm A, Berg NO (1983) Size, site and clinical incidence of lipoma. Factors in the differential diagnosis of lipoma and sarcoma. Acta M o p Scand 5 4 9 S 9 3 4 . Sait SNJ, Dal Cin P, Sandberg AA, Leong S, Karakousis C, Rao U, Hams K (1989) Involvement of 6p in benign lipomas. A new cytogenetic entity? Cancer Genet Cytogenet 37281-283. Sreekantaiah C, Bergex CS, Karakousis CP, Rao U, Leong SPL, Sandberg AA (1989) Cytogeneticsubtype involving chromosome 13 in lipoma. Report of three cases. Cancer Genet Cytogenet 3928-288. Sreekantaiah C, Leong SPL, Sandberg AA (199Oa)Complex cytogenetic changes in benign neoplasms. Report of six lipomas. Cancer Genet Cytogenet 47313-130.
Sreekantaiah C, Leong SPL, Fleming S, Sandberg AA (199Ob)Translocation (2;6Xq36p21.3)in a lipoma. Cancer Genet Cytogenet 45:81-&1. Sreekantaiah C, Leong SPL, Karakousis CP, McGee DL, Rappaport WD, Villar HV, Neal D, Fleming S, Wankel A, Herrington PN, Carmona R, Sandberg AA (1991) Cytogenetic profile of 109 lipomas. Cancer Res 51:422433. Turc-Carel C, Dal Cin P, Rao U, Karakousis C, Sandberg AA (1986) Cytogenetic studies of adipose tissue .I. A benign lipoma with reciprocal translocation t(3;12)(q28,q14). Cancer Genet Cytogenet 2328% 289. Turc Carel C, Dal Cin P, Limon J, Gibas Z, Kakati S, Pieztak E, Parry D, Li F, Sandberg AA (1987) Cytogenetic and molecular studies of adipose tissue tumors (abstract). Cancer Genet Cytogenet 2833. Turc-Carel C, Dal Cin P, Ebghosian L, Leong SPL, Sandberg AA (1988) Breakpoints in benign lipoma may be at 12q13 or 12q14. Cancer Genet Cytogenet 36131-135.
