Skip to main content
PMC home page
The American Journal of Pathology logoLink to The American Journal of Pathology
. 1996 Feb;148(2):623–630.

Correlation between clinicopathological features and karyotype in lipomatous tumors. A report of 178 cases from the Chromosomes and Morphology (CHAMP) Collaborative Study Group.

C D Fletcher 1, M Akerman 1, P Dal Cin 1, I de Wever 1, N Mandahl 1, F Mertens 1, F Mitelman 1, J Rosai 1, A Rydholm 1, R Sciot 1, G Tallini 1, H van den Berghe 1, W van de Ven 1, R Vanni 1, H Willen 1
PMCID: PMC1861666  PMID: 8579124

Abstract

Soft tissue tumors commonly show cytogenetic abnormalities, some of which are tumor specific. Lipomatous tumors represent the largest category of soft tissue neoplasms, and numerous karyotypic aberrations have been identified. However, clear-cut correlation between morphology and karyotype has not been undertaken on a systematic basis in a double-blind setting. The morphological features and histological diagnosis of 178 lipomatous neoplasms were reviewed independently without knowledge of the clinical data. The consensus diagnoses were then correlated with the clinical findings and compared with the tumors' karyotypes, using G-banded preparations from short-term cultures. The data were collated by a multicenter collaborative group of pathologists, geneticists, and surgeons. Clonal chromosomal abnormalities were identified in 149 cases studied (84%) and, to a large extent, the karyotype correlated with the morphological diagnosis. Specifically, 26 (96%) of 27 myxoid liposarcomas and its poorly differentiated variants showed a t(12;16); 29 (78%) of 37 atypical lipomatous tumors (including 5 dedifferentiated cases) showed ring chromosomes; 74 (80%) of 93 subcutaneous and intramuscular lipomas had karyotypic aberrations affecting mainly 12q, 6p, and 13q; 7 of 8 spindle cell and pleomorphic lipomas had aberrations of 16q; 3 lipoblastomas showed 8q rearrangements; and 2 hibernomas showed 11q abnormalities. We conclude that cytogenetic abnormalities are common in lipomatous tumors, correlate reliably with morphological sub-type in many cases, and can be of diagnostic value in histologically borderline or difficult cases.

Full text

PDF
623

Selected References

These references are in PubMed. This may not be the complete list of references from this article.

  1. Azumi N., Curtis J., Kempson R. L., Hendrickson M. R. Atypical and malignant neoplasms showing lipomatous differentiation. A study of 111 cases. Am J Surg Pathol. 1987 Mar;11(3):161–183. doi: 10.1097/00000478-198703000-00001. [DOI] [PubMed] [Google Scholar]
  2. Dal Cin P., Kools P., Sciot R., De Wever I., Van Damme B., Van de Ven W., Van den Berghe H. Cytogenetic and fluorescence in situ hybridization investigation of ring chromosomes characterizing a specific pathologic subgroup of adipose tissue tumors. Cancer Genet Cytogenet. 1993 Jul 15;68(2):85–90. doi: 10.1016/0165-4608(93)90001-3. [DOI] [PubMed] [Google Scholar]
  3. Dal Cin P., Sciot R., De Wever I., Van Damme B., Van den Berghe H. New discriminative chromosomal marker in adipose tissue tumors. The chromosome 8q11-q13 region in lipoblastoma. Cancer Genet Cytogenet. 1994 Dec;78(2):232–235. doi: 10.1016/0165-4608(94)90095-7. [DOI] [PubMed] [Google Scholar]
  4. Dei Tos A. P., Mentzel T., Newman P. L., Fletcher C. D. Spindle cell liposarcoma, a hitherto unrecognized variant of liposarcoma. Analysis of six cases. Am J Surg Pathol. 1994 Sep;18(9):913–921. doi: 10.1097/00000478-199409000-00006. [DOI] [PubMed] [Google Scholar]
  5. Downing J. R., Khandekar A., Shurtleff S. A., Head D. R., Parham D. M., Webber B. L., Pappo A. S., Hulshof M. G., Conn W. P., Shapiro D. N. Multiplex RT-PCR assay for the differential diagnosis of alveolar rhabdomyosarcoma and Ewing's sarcoma. Am J Pathol. 1995 Mar;146(3):626–634. [PMC free article] [PubMed] [Google Scholar]
  6. Evans H. L., Soule E. H., Winkelmann R. K. Atypical lipoma, atypical intramuscular lipoma, and well differentiated retroperitoneal liposarcoma: a reappraisal of 30 cases formerly classified as well differentiated liposarcoma. Cancer. 1979 Feb;43(2):574–584. doi: 10.1002/1097-0142(197902)43:2<574::aid-cncr2820430226>3.0.co;2-7. [DOI] [PubMed] [Google Scholar]
  7. Fletcher C. D. Pleomorphic malignant fibrous histiocytoma: fact or fiction? A critical reappraisal based on 159 tumors diagnosed as pleomorphic sarcoma. Am J Surg Pathol. 1992 Mar;16(3):213–228. [PubMed] [Google Scholar]
  8. Fletcher J. A., Kozakewich H. P., Hoffer F. A., Lage J. M., Weidner N., Tepper R., Pinkus G. S., Morton C. C., Corson J. M. Diagnostic relevance of clonal cytogenetic aberrations in malignant soft-tissue tumors. N Engl J Med. 1991 Feb 14;324(7):436–442. doi: 10.1056/NEJM199102143240702. [DOI] [PubMed] [Google Scholar]
  9. Fletcher J. A., Kozakewich H. P., Schoenberg M. L., Morton C. C. Cytogenetic findings in pediatric adipose tumors: consistent rearrangement of chromosome 8 in lipoblastoma. Genes Chromosomes Cancer. 1993 Jan;6(1):24–29. doi: 10.1002/gcc.2870060106. [DOI] [PubMed] [Google Scholar]
  10. Heim S., Mandahl N., Kristoffersson U., Mitelman F., Röser B., Rydholm A., Willén H. Marker ring chromosome--a new cytogenetic abnormality characterizing lipogenic tumors? Cancer Genet Cytogenet. 1987 Feb;24(2):319–326. doi: 10.1016/0165-4608(87)90114-2. [DOI] [PubMed] [Google Scholar]
  11. Heim S., Mandahl N., Rydholm A., Willén H., Mitelman F. Different karyotypic features characterize different clinico-pathologic subgroups of benign lipogenic tumors. Int J Cancer. 1988 Dec 15;42(6):863–867. doi: 10.1002/ijc.2910420612. [DOI] [PubMed] [Google Scholar]
  12. Kindblom L. G., Angervall L., Fassina A. S. Atypical lipoma. Acta Pathol Microbiol Immunol Scand A. 1982 Jan;90(1):27–36. doi: 10.1111/j.1699-0463.1982.tb00060_90a.x. [DOI] [PubMed] [Google Scholar]
  13. Knight J. C., Renwick P. J., Dal Cin P., Van den Berghe H., Fletcher C. D. Translocation t(12;16)(q13;p11) in myxoid liposarcoma and round cell liposarcoma: molecular and cytogenetic analysis. Cancer Res. 1995 Jan 1;55(1):24–27. [PubMed] [Google Scholar]
  14. Mandahl N., Heim S., Arheden K., Rydholm A., Willén H., Mitelman F. Three major cytogenetic subgroups can be identified among chromosomally abnormal solitary lipomas. Hum Genet. 1988 Jul;79(3):203–208. doi: 10.1007/BF00366238. [DOI] [PubMed] [Google Scholar]
  15. Mandahl N., Heim S., Johansson B., Bennet K., Mertens F., Olsson G., Röser B., Rydholm A., Willén H., Mitelman F. Lipomas have characteristic structural chromosomal rearrangements of 12q13-q14. Int J Cancer. 1987 Jun 15;39(6):685–688. doi: 10.1002/ijc.2910390605. [DOI] [PubMed] [Google Scholar]
  16. Mandahl N., Höglund M., Mertens F., Rydholm A., Willén H., Brosjö O., Mitelman F. Cytogenetic aberrations in 188 benign and borderline adipose tissue tumors. Genes Chromosomes Cancer. 1994 Mar;9(3):207–215. doi: 10.1002/gcc.2870090309. [DOI] [PubMed] [Google Scholar]
  17. Mandahl N., Mertens F., Willén H., Rydholm A., Brosjö O., Mitelman F. A new cytogenetic subgroup in lipomas: loss of chromosome 16 material in spindle cell and pleomorphic lipomas. J Cancer Res Clin Oncol. 1994;120(12):707–711. doi: 10.1007/BF01194267. [DOI] [PubMed] [Google Scholar]
  18. McCormick D., Mentzel T., Beham A., Fletcher C. D. Dedifferentiated liposarcoma. Clinicopathologic analysis of 32 cases suggesting a better prognostic subgroup among pleomorphic sarcomas. Am J Surg Pathol. 1994 Dec;18(12):1213–1223. doi: 10.1097/00000478-199412000-00004. [DOI] [PubMed] [Google Scholar]
  19. Meloni A. M., Spanier S. S., Bush C. H., Stone J. F., Sandberg A. A. Involvement of 10q22 and 11q13 in hibernoma. Cancer Genet Cytogenet. 1994 Jan;72(1):59–64. doi: 10.1016/0165-4608(94)90111-2. [DOI] [PubMed] [Google Scholar]
  20. Mentzel T., Calonje E., Fletcher C. D. Lipoblastoma and lipoblastomatosis: a clinicopathological study of 14 cases. Histopathology. 1993 Dec;23(6):527–533. doi: 10.1111/j.1365-2559.1993.tb01238.x. [DOI] [PubMed] [Google Scholar]
  21. Mertens F., Rydholm A., Brosjö O., Willén H., Mitelman F., Mandahl N. Hibernomas are characterized by rearrangements of chromosome bands 11q13-21. Int J Cancer. 1994 Aug 15;58(4):503–505. doi: 10.1002/ijc.2910580408. [DOI] [PubMed] [Google Scholar]
  22. Molenaar W. M., DeJong B., Buist J., Idenburg V. J., Seruca R., Vos A. M., Hoekstra H. J. Chromosomal analysis and the classification of soft tissue sarcomas. Lab Invest. 1989 Feb;60(2):266–274. [PubMed] [Google Scholar]
  23. Scrable H., Witte D., Shimada H., Seemayer T., Sheng W. W., Soukup S., Koufos A., Houghton P., Lampkin B., Cavenee W. Molecular differential pathology of rhabdomyosarcoma. Genes Chromosomes Cancer. 1989 Sep;1(1):23–35. doi: 10.1002/gcc.2870010106. [DOI] [PubMed] [Google Scholar]
  24. Sreekantaiah C., Karakousis C. P., Leong S. P., Sandberg A. A. Cytogenetic findings in liposarcoma correlate with histopathologic subtypes. Cancer. 1992 May 15;69(10):2484–2495. doi: 10.1002/1097-0142(19920515)69:10<2484::aid-cncr2820691017>3.0.co;2-2. [DOI] [PubMed] [Google Scholar]
  25. Sreekantaiah C., Ladanyi M., Rodriguez E., Chaganti R. S. Chromosomal aberrations in soft tissue tumors. Relevance to diagnosis, classification, and molecular mechanisms. Am J Pathol. 1994 Jun;144(6):1121–1134. [PMC free article] [PubMed] [Google Scholar]
  26. Sreekantaiah C., Leong S. P., Karakousis C. P., McGee D. L., Rappaport W. D., Villar H. V., Neal D., Fleming S., Wankel A., Herrington P. N. Cytogenetic profile of 109 lipomas. Cancer Res. 1991 Jan 1;51(1):422–433. [PubMed] [Google Scholar]
  27. Sreekantaiah C., Sandberg A. A. Clustering of aberrations to specific chromosome regions in benign neoplasms. Int J Cancer. 1991 May 10;48(2):194–198. doi: 10.1002/ijc.2910480207. [DOI] [PubMed] [Google Scholar]
  28. Turc-Carel C., Limon J., Dal Cin P., Rao U., Karakousis C., Sandberg A. A. Cytogenetic studies of adipose tissue tumors. II. Recurrent reciprocal translocation t(12;16)(q13;p11) in myxoid liposarcomas. Cancer Genet Cytogenet. 1986 Dec;23(4):291–299. doi: 10.1016/0165-4608(86)90011-7. [DOI] [PubMed] [Google Scholar]
  29. Weiss S. W., Rao V. K. Well-differentiated liposarcoma (atypical lipoma) of deep soft tissue of the extremities, retroperitoneum, and miscellaneous sites. A follow-up study of 92 cases with analysis of the incidence of "dedifferentiation". Am J Surg Pathol. 1992 Nov;16(11):1051–1058. doi: 10.1097/00000478-199211000-00003. [DOI] [PubMed] [Google Scholar]

Articles from The American Journal of Pathology are provided here courtesy of American Society for Investigative Pathology

RESOURCES