Atlas of Genetics and Cytogenetics in Oncology and Haematology

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Soft tissue tumors: Lipoma / benign lipomatous tumors


Phylum Soft Tissue Tumors:Benign Lipomatous tumor
Note lipomas are benign adipose tissue tumors with many subtypes, constituting one-third of all soft tissue tumors


  • Ordinary lipoma: the solitary, ordinary lipomas represent the most common soft tissue tumors, with subcutaneous tumors being much more common than the deep-seated ones
    Epidemiology: the incidence of lipomas is about one in 1000 inhabitants per year, but is probably underestimated since many lesions cause few problems; they occur most frequently between 30 and 70 years of age, with a peak incidence between 40 and 60 years
    Clinics: solitary lipomas are slow-growing masses, most frequently located in the upper back, neck, shoulder, abdomen, and the proximal portions of the extremities
    Evolution: surgery is required primarily when the tumors reach large size and cause cosmetic problems or complications due to their anatomical site; there is no risk of progression to malignancy, and recurrences are rare after shelling-out
  • Angiolipoma: angiolipomas show characteristic histological features and occur primarily as subcutaneous, painful nodules; multiple lesions are much more common than solitary ones; they are usually smaller than solitary, ordinary lipomas and present at an earlier age, with the dominating site being the forearm; an increased familial incidence has been noted
  • Spindle cell/ pleomorphic lipoma: the characteristic feature of spindle cell lipoma is the replacement of mature fat by collagen-forming spindle cells; these rare tumors typically occur subcutaneously in the neck and shoulders of men aged 45 to 65 years
    pleomorphic lipoma probably represents a highly pleomorphic variant of spindle cell lipoma and show similar clinical features;
    both of these types of lesions may be confused with liposarcoma
  • Lipoblastoma: lipoblastoma is a tumor of the infancy; most tumors occur before three years of age and may occasionally be seen already at birth; the site is primarily the upper and lower extremities; there may be a close resemblance to myxoid liposarcoma
  • Hibernoma: hibernoma is chiefly a tumor of adults, although in average occurring at lower ages than solitary, ordinary lipomas; the most common sites are the scapular and interscapular regions, mediastinum and upper thorax
  • Angiomyo-lipoma: angiomyolipoma is a hamartomatous lesion in the kidneys of adult patients, with a preponderance of women
  • Chondroid lipoma: chondroid lipoma is a rare tumor occurring in the subcutis or muscle of adults; it may be confused with liposarcoma and chondrosarcoma, and shows microscopic features of both lipoma and hibernoma
  • Cytogenetics

    Ordinary lipoma:
  • the majority of tumors show fairly simple, structural chromosome aberrations; numerical changes are rare; seemingly balanced aberrations dominate over unbalanced changes, as also indicated by the finding of no copy number changes in smaller series of lipomas investigated by CGH
  • in more than two-thirds of cases with karyotypic changes, there is an involvement of chromosome segment 12q13-15, which may recombine with a large variety of other chromosomal segments; so far, more than 80 of the 320 chromosome bands in the standard karyotype have been involved in these rearrangements
  • the most frequent aberration is t(3;12)(q27-28;q14-15), found in one-fifth of cases with 12q13-15 changes
  • other recurrently involved chromosome segments include 1p36, 1p32-34, 2p22-24, 2q35-37, 5q33, 10q22, 11q13, 12p11, 12q24, 13q12-14, and 21q21-22; all recurrent changes combined represent 75% of cases with 12q13-15 changes and 45-50% of all karyotypically abnormal ordinary lipomas among cases without 12q13-15 changes, one subset of tumors display translocations involving 6p21-23 and another subset have loss of 13q material with breakpoints in 13q12-14 and/or 13q22; many of the latter aberrations are seen as del(13)(q12q22); these 6p and 13q changes are found at similar frequencies, each occuring in 6-8% of ordinary lipomas with cytogenetic aberrations
  • some 15-20% of the aberrant tumors have rearrangements involving neither 6p21-23, 12q13-15, 13q12-14 nor 13q22
  • Cytogenetics Molecular
  • the rearrangements frequently affect the high mobility group protein gene HMGIC in 12q15, with most breakpoints occuring in the large intron 3; the outcome of the 3;12-translocations is the formation of a chimeric gene involving HMGIC and LPP
  • LPP is a member of the LIM protein gene family, containing a leucin-zipper motif in its amino-terminal region and three LIM domains in its carboxy-terminal region
  • Result of the chromosomal anomaly: the HMGIC/LPP transcripts frequently contain coding sequences for the three DNA-binding domains of HMGIC and two or three LIM domains from LPP; HMGIC/LPP is not specific for lipomas, but has also been identified in a series of pulmonary chondroid hamartomas with t(3;12), and HMGIC is rearranged in a variety of benign tumors
  • another fusion has been with LHFP in a lipoma with t(12;13)(q13-15;q12); the expressed HMGIC/LHFP fusion transcript encoded the three DNA binding domains of HMGIC and 69 amino acids from frame-shifted LHFP sequences
  • a candidate gene for rearrangements affecting 6p21 in lipomas is HMGIY

  • Cytogenetics
    Angiolipoma: subcutaneous angiolipomas have a normal karyotype as shown by chromosome banding

    Spindle cell/ pleomorphic lipoma: few cases have been investigated cytogenetically; the characteristic features are losses of chromosome 13 and 16 sequences, in particular involving the segments 13q12 and 16q13-qter, respectively

    Lipoblastoma: few cases have been investigated cytogenetically; they have all had rearrangements of 8q11-13 in common; this segment has been found to recombine with a variety of other chromosome bands; preliminary data have indicated that the PLAG1 gene in 8q12 is affected, resulting in a similar promoter swapping as has been described in pleomorphic adenomas of the salivary gland

    Hibernoma: the characteristic feature is rearrangements of 11q13, which may recombine with a variety of other chromosome bands; in contrast to ordinary lipomas, no translocations involving both 11q13 and 12q13-15 have been found in hibernomas. FISH analyses have demonstrated that both homologs of chromosome 11, including the seemingly normal one, have deletions encompassing the multiple endocrine neoplasia type I, MEN1, locus and a second region about 3 Mb distal to MEN1

    Angiomyo-lipoma: few cases have been investigated cytogenetically; the only recurrent change identified has been trisomy 7; however, interphase FISH analysis did not reveal any significant fraction of cells with +7 in the angiomyolipomas investigated

    Chondroid lipoma: a cytogenetically identical rearrangement, t(11;16)(q13;p13), found in the only two cases reported indicate that this is a recurrent aberration

    Other genes implicated (Data extracted from papers in the Atlas)


    Translocations implicated (Data extracted from papers in the Atlas)

     t(1;12)(p32;q14) PPAP2/HMGA2
     t(12;13)(q14;q13) HMGA2/LHFP
     t(2;12)(q37;q14) HMGA2/ACKR3
     t(3;12)(q28;q15) HMGA2/LPP
     t(5;12)(q33;q14) HMGA2/EBF1
     t(9;12)(p22;q14) HMGA2/NFIB

    External links

    Mitelman database
    t(1;12)(p32;q14) - Mitelman database (CGAP - NCBI)
    t(12;13)(q14;q13) - Mitelman database (CGAP - NCBI)
    t(2;12)(q37;q14) - Mitelman database (CGAP - NCBI)
    t(3;12)(q28;q15) - Mitelman database (CGAP - NCBI)
    t(5;12)(q33;q14) - Mitelman database (CGAP - NCBI)
    t(9;12)(p22;q14) - Mitelman database (CGAP - NCBI)
    COSMICHisto = - Site = soft_tissue (COSMIC)


    Cytogenetic analysis of a rare case of pediatric myxolipoma.
    Peulve P, Thomine E, Hemet J
    Annales de genetique. 1990 ; 33 (4) : 222-224.
    PMID 2095704
    Cytogenetic profile of 109 lipomas.
    Sreekantaiah C, Leong SP, Karakousis CP, McGee DL, Rappaport WD, Villar HV, Neal D, Fleming S, Wankel A, Herrington PN
    Cancer research. 1991 ; 51 (1) : 422-433.
    PMID 1988102
    Cytogenetic analysis of renal angiomyolipoma.
    Debiec-Rychter M, Saryusz-Wolska H, Salagierski M
    Genes, chromosomes & cancer. 1992 ; 4 (1) : 101-103.
    PMID 1377003
    Cytogenetic findings in pediatric adipose tumors: consistent rearrangement of chromosome 8 in lipoblastoma.
    Fletcher JA, Kozakewich HP, Schoenberg ML, Morton CC
    Genes, chromosomes & cancer. 1993 ; 6 (1) : 24-29.
    PMID 7680218
    Chromosome 12 breakpoints are cytogenetically different in benign and malignant lipogenic tumors: localization of breakpoints in lipoma to 12q15 and in myxoid liposarcoma to 12q13.3.
    MrąĄzek K, Karakousis CP, Bloomfield CD
    Cancer research. 1993 ; 53 (7) : 1670-1675.
    PMID 8453640
    A case report of fibrolipoma with t(12;16)(q13;q24).
    Tayyeb MT, Neff JR, Bridge JA
    Cancer genetics and cytogenetics. 1993 ; 67 (2) : 145-146.
    PMID 8330272
    New discriminative chromosomal marker in adipose tissue tumors. The chromosome 8q11-q13 region in lipoblastoma.
    Dal Cin P, Sciot R, De Wever I, Van Damme B, Van den Berghe H
    Cancer genetics and cytogenetics. 1994 ; 78 (2) : 232-235.
    PMID 7828158
    Cytogenetic aberrations in 188 benign and borderline adipose tissue tumors.
    Mandahl N, HąŹglund M, Mertens F, Rydholm A, Willą©n H, BrosjąŹ O, Mitelman F
    Genes, chromosomes & cancer. 1994 ; 9 (3) : 207-215.
    PMID 7515663
    A new cytogenetic subgroup in lipomas: loss of chromosome 16 material in spindle cell and pleomorphic lipomas.
    Mandahl N, Mertens F, Willą©n H, Rydholm A, BrosjąŹ O, Mitelman F
    Journal of cancer research and clinical oncology. 1994 ; 120 (12) : 707-711.
    PMID 7798294
    Involvement of 10q22 and 11q13 in hibernoma.
    Meloni AM, Spanier SS, Bush CH, Stone JF, Sandberg AA
    Cancer genetics and cytogenetics. 1994 ; 72 (1) : 59-64.
    PMID 8111740
    Hibernomas are characterized by rearrangements of chromosome bands 11q13-21.
    Mertens F, Rydholm A, BrosjąŹ O, Willą©n H, Mitelman F, Mandahl N
    International journal of cancer. Journal international du cancer. 1994 ; 58 (4) : 503-505.
    PMID 8056446
    Disruption of the architectural factor HMGI-C: DNA-binding AT hook motifs fused in lipomas to distinct transcriptional regulatory domains.
    Ashar HR, Fejzo MS, Tkachenko A, Zhou X, Fletcher JA, Weremowicz S, Morton CC, Chada K
    Cell. 1995 ; 82 (1) : 57-65.
    PMID 7606786
    Translocation t(3;12)(q28;q14) in parosteal lipoma.
    Bridge JA, DeBoer J, Walker CW, Neff JR
    Genes, chromosomes & cancer. 1995 ; 12 (1) : 70-72.
    PMID 7534115
    Enzinger FM, Weiss SW
    Soft Tissue Tumors, 3rd ed..
    Recurrent rearrangements in the high mobility group protein gene, HMGI-C, in benign mesenchymal tumours.
    Schoenmakers EF, Wanschura S, Mols R, Bullerdiek J, Van den Berghe H, Van de Ven WJ
    Nature genetics. 1995 ; 10 (4) : 436-444.
    PMID 7670494
    Genomic characterization of human HMGIC, a member of the accessory transcription factor family found at translocation breakpoints in lipomas.
    Ashar HR, Cherath L, Przybysz KM, Chada K
    Genomics. 1996 ; 31 (2) : 207-214.
    PMID 8824803
    Correlation between clinicopathological features and karyotype in lipomatous tumors. A report of 178 cases from the Chromosomes and Morphology (CHAMP) Collaborative Study Group.
    Fletcher CD, Akerman M, Dal Cin P, de Wever I, Mandahl N, Mertens F, Mitelman F, Rosai J, Rydholm A, Sciot R, Tallini G, van den Berghe H, van de Ven W, Vanni R, Willen H
    The American journal of pathology. 1996 ; 148 (2) : 623-630.
    PMID 8579124
    Cytogenetics and molecular genetics of bone and soft tissue tumors.
    Mandahl N
    Advances in cancer research. 1996 ; 69 : 63-99.
    PMID 8791679
    LPP, the preferred fusion partner gene of HMGIC in lipomas, is a novel member of the LIM protein gene family.
    Petit MM, Mols R, Schoenmakers EF, Mandahl N, Van de Ven WJ
    Genomics. 1996 ; 36 (1) : 118-129.
    PMID 8812423
    Chromosome analysis in angiomyolipoma.
    Dal Cin P, Sciot R, Van Poppel H, Baert L, Van Damme B, Van den Berghe H
    Cancer genetics and cytogenetics. 1997 ; 99 (2) : 132-134.
    PMID 9398869
    Chromosomal aberration in lipoblastoma: a case with 46,XX,ins(8;6)(q11.2;q13q27).
    Kanazawa C, Mitsui T, Shimizu Y, Saitoh E, Kawakami T, Shiihara T, Yokoyama S, Yamagiwa I, Hayasaka K
    Cancer genetics and cytogenetics. 1997 ; 95 (2) : 163-165.
    PMID 9169035
    Identification of new translocation breakpoints at 12q13 in lipomas.
    Merscher S, Marondel I, Pedeutour F, Gaudray P, Kucherlapati R, Turc-Carel C
    Genomics. 1997 ; 46 (1) : 70-77.
    PMID 9403060
    Cytogenetic analysis of subcutaneous angiolipoma: further evidence supporting its difference from ordinary pure lipomas: a report of the CHAMP Study Group.
    Sciot R, Akerman M, Dal Cin P, De Wever I, Fletcher CD, Mandahl N, Mertens F, Mitelman F, Rosai J, Rydholm A, Tallini G, Van den Berghe H, Vanni R, Willen H
    The American journal of surgical pathology. 1997 ; 21 (4) : 441-444.
    PMID 9130991
    Overrepresentation of 1q21-23 and 12q13-21 in lipoma-like liposarcomas but not in benign lipomas: a comparative genomic hybridization study.
    Szymanska J, Virolainen M, Tarkkanen M, Wiklund T, Asko-Seljavaara S, Tukiainen E, Elomaa I, Blomqvist C, Knuutila S
    Cancer genetics and cytogenetics. 1997 ; 99 (1) : 14-18.
    PMID 9352790
    Expression of HMGI-C and HMGI(Y) in ordinary lipoma and atypical lipomatous tumors: immunohistochemical reactivity correlates with karyotypic alterations.
    Tallini G, Dal Cin P, Rhoden KJ, Chiapetta G, Manfioletti G, Giancotti V, Fusco A, Van den Berghe H, Sciot R
    The American journal of pathology. 1997 ; 151 (1) : 37-43.
    PMID 9212729
    Translocation (11;14)(q13;q32) and overexpression of cyclin D1 protein in a CD23-positive low-grade B-cell neoplasm.
    Nanjangud G, Naresh KN, Nair CN, Parikh B, Dixit PH, Advani SH, Amare PS
    Cancer genetics and cytogenetics. 1998 ; 106 (1) : 37-43.
    PMID 9772907
    Expression of reciprocal fusion transcripts of the HMGIC and LPP genes in parosteal lipoma.
    Petit MM, Swarts S, Bridge JA, Van de Ven WJ
    Cancer genetics and cytogenetics. 1998 ; 106 (1) : 18-23.
    PMID 9772904
    The t(3;12)(q27;q14-q15) with underlying HMGIC-LPP fusion is not determining an adipocytic phenotype.
    Rogalla P, Kazmierczak B, Meyer-Bolte K, Tran KH, Bullerdiek J
    Genes, chromosomes & cancer. 1998 ; 22 (2) : 100-104.
    PMID 9598796
    The cytogenetic and molecular characterization of benign and malignant soft tissue tumors.
    Sreekantaiah C
    Cytogenetics and cell genetics. 1998 ; 82 (1-2) : 13-29.
    PMID 9763652
    Comparison of chromosomal patterns with clinical features in 165 lipomas: a report of the CHAMP study group.
    Willą©n H, Akerman M, Dal Cin P, De Wever I, Fletcher CD, Mandahl N, Mertens F, Mitelman F, Rosai J, Rydholm A, Sciot R, Tallini G, Van den Berghe H, Vanni R
    Cancer genetics and cytogenetics. 1998 ; 102 (1) : 46-49.
    PMID 9530339
    Fusion genes in solid tumors.
    Aman P
    Seminars in cancer biology. 1999 ; 9 (4) : 303-318.
    PMID 10448117
    Unique cytological features and chromosome aberrations in chondroid lipoma: a case report based on fine-needle aspiration cytology, histopathology, electron microscopy, chromosome banding, and molecular cytogenetics.
    Gisselsson D, Domanski HA, HąŹglund M, Carlą©n B, Mertens F, Willą©n H, Mandahl N
    The American journal of surgical pathology. 1999 ; 23 (10) : 1300-1304.
    PMID 10524534
    Hibernomas are characterized by homozygous deletions in the multiple endocrine neoplasia type I region. Metaphase fluorescence in situ hybridization reveals complex rearrangements not detected by conventional cytogenetics.
    Gisselsson D, HąŹglund M, Mertens F, Dal Cin P, Mandahl N
    The American journal of pathology. 1999 ; 155 (1) : 61-66.
    PMID 10393837
    LHFP, a novel translocation partner gene of HMGIC in a lipoma, is a member of a new family of LHFP-like genes.
    Petit MM, Schoenmakers EF, Huysmans C, Geurts JM, Mandahl N, Van de Ven WJ
    Genomics. 1999 ; 57 (3) : 438-441.
    PMID 10329012
    Cytogenetic and cytologic features of chondroid lipoma of soft tissue.
    Thomson TA, Horsman D, Bainbridge TC
    Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc. 1999 ; 12 (1) : 88-91.
    PMID 9950168
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    Written05-2000Nils Mandahl
    Department of Clinical Genetics, University Hospital, Lund, Sweden


    This paper should be referenced as such :
    Mandahl, N
    Soft tissue tumors: Lipoma / benign lipomatous tumors
    Atlas Genet Cytogenet Oncol Haematol. 2000;4(3):135-137.
    Free online version   Free pdf version   [Bibliographic record ]
    URL :

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