Atlas of Genetics and Cytogenetics in Oncology and Haematology


Home   Genes   Leukemias   Solid Tumours   Cancer-Prone   Deep Insight   Case Reports   Journals  Portal   Teaching   

X Y 1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 17 18 19 20 21 22 NA

Soft Tissue Tumors: Lipoma: Chondroid lipoma

Identity

Phylum Soft Tissue Tumors: Lipoma: Chondroid lipoma
Note Chondroid lipoma is a benign adipose tissue tumour that features clinical, morphologic, and genetic characteristics that are distinct from the common conventional lipoma.

Classification

    Chondroid lipoma is a benign lipomatous neoplasm.

Clinics and Pathology

Disease Chondroid lipoma
Epidemiology Chondroid lipoma is an extremely rare benign adipose tissue tumour. Most tumours arise in adult women.
Clinics Chondroid lipoma primarily occurs in the subcutaneous or deep soft tissues of the proximal extremities and limb girdles, but this lesion may also arise in other sites including the distal extremities, trunk, and head and neck regions (particularly the oral cavity). This tumour typically presents as a painless, slow growing mass. Excision is curative; chondroid lipoma does not recur locally or metastasize.
Pathology Chondroid lipomas range from 2 to 11 cm in size and are well delineated, often encapsulated lesions with yellow cut surfaces. Chondroid lipoma is composed of nests and cords of mature adipocytes and uni- or multivacuolated cells resembling lipoblasts embedded in a prominent myxohyaline matrix (Figure 1). Cells with eosinophilic, granular cytoplasms may also be seen. Hemorrhage and fibrosis are common with a prominent vasculature. Histologically, chondroid lipoma may resemble myxoid liposarcoma or extraskeletal myxoid chondrosarcoma. Immunostaining with S100 protein (mature adipocytes) is positive. Intracytoplasmic glycogen is highlighted with PAS stains. Alcian blue and toluidine blue stain the chondroitin sulfate substrate.
 
Figure 1. Lower and higher power fields (left and right respectively) of chondroid lipoma.

Cytogenetics

Cytogenetics
Morphological
Chondroid lipoma is characterized by a t(11;16)(q13;p13) chromosomal translocation that results in fusion of the C11orf95 (11q13) and MKL2 (16p13.3) genes (Figure 2).
Figure 2. Partial karyotype and corresponding schematic illustrating the 11;16 translocation recurrent in chondroid lipoma.

Genes involved and Proteins

Gene Name C11orf95
Location 11q13
Dna / Rna The C11orf95 (chromosome 11 open reading frame 95) gene consists of 7 exons located within 6961 bp of genomic DNA.
Protein C11orf95 codes for a 678 amino acid hypothetical protein of unknown function that exhibits expression in a wide variety of human tissues. This protein contains four C2H2 zinc fingers (classical zinc finger domain) with zinc ion binding molecular function.

Gene Name MKL2
Location 16p13
Dna / Rna MKL2 is a member of the myocardin/megakaryoblastic leukemia gene family. The MKL2 gene contains 13 exons and spans more than 195 kb.
Protein The MKL2 gene codes for a 1049 amino acid myocardin-like protein. MKL2, an SAP (SAF-A, acinus, and PIAS) DNA-binding domain containing protein, has been functionally implicated in chromatin remodeling in addition to serving as a transcriptional co-activator of SRF (serum response factor).

Result of the chromosomal anomaly

Hybrid Gene
 
Figure 3. Wild-type and fusion gene associated with the 11;16 translocation. A: Schematic of C11orf95, MKL2, and C11orf95-MKL2 fusion gene; solid bars represent coding exons, gray boxes are non-translated regions. B: Amino acid sequence at the breakpoint. C: Schematic and domain structure of the fusion C11orf95-MKL2 protein; the letters within the bars designate functional domains: zinc finger C2H2 domain (Znf), proline rich region (P), DNA-binding SAP domain (SAP), and cooled-cooled region (CC).
Description The 11;16 translocation results in fusion of exons 5 and 9 of the C11orf95 and MKL2 genes respectively.
Fusion Protein
Description The C11orf95-MKL2 fusion gene codes for a transcript of 9127 nucleotides with an open reading frame of 3744 nucleotides. The chimeric transcript encodes a protein of 1247 amino acids that retains the SAP domain from MKL2.
Oncogenesis The C11orf95-MKL2 chimeric transcript encompasses all putative functional motifs encoded by each gene. The C-terminal portion of the C11orf95-MKL2 chimeric protein contains a SAP DNA-binding domain, a coiled-coiled domain and a proline-rich region known to be present in transcription factors and oncoproteins. Additional studies must be conducted to determine the functionality of the C11orf95-MKL2 fusion oncogene in chondroid lipoma.
  

Translocations implicated (Data extracted from papers in the Atlas)

 t(11;16)(q13;p13) C11orf95/MKL2

External links

8016 Chondroid lipoma;Lip chondr
Mitelman databaseTopo ( Soft_tissue ) - Mitelman database (CGAP - NCBI)
t(11;16)(q13;p13) - Mitelman database (CGAP - NCBI)
COSMICHisto = - Site = soft_tissue (COSMIC)
arrayMapTopo ( C49) Morph ( 8860/0) - arrayMap (Zurich)

Bibliography

Chondroid lipoma. A unique tumor simulating liposarcoma and myxoid chondrosarcoma.
Meis JM, Enzinger FM.
Am J Surg Pathol. 1993 Nov;17(11):1103-12.
PMID 8214255
 
Chondroid lipoma: an ultrastructural and immunohistochemical analysis with further observations regarding its differentiation.
Kindblom LG, Meis-Kindblom JM.
Hum Pathol. 1995 Jul;26(7):706-15.
PMID 7628841
 
Chondroid lipoma, a tumor of white fat cells. A brief report of two cases with ultrastructural analysis.
Nielsen GP, O'Connell JX, Dickersin GR, Rosenberg AE.
Am J Surg Pathol. 1995 Nov;19(11):1272-6.
PMID 7573689
 
Chondroid lipoma: MRI appearances with clinical and histologic correlation.
Logan PM, Janzen DL, O'Connell JX, Munk PL, Connell DG.
Skeletal Radiol. 1996 Aug;25(6):592-5.
PMID 8865499
 
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, Hoglund M, Carlen B, Mertens F, Willen H, Mandahl N.
Am J Surg Pathol. 1999 Oct;23(10):1300-4.
PMID 10524534
 
Cytogenetic and cytologic features of chondroid lipoma of soft tissue.
Thomson TA, Horsman D, Bainbridge TC.
Mod Pathol. 1999 Jan;12(1):88-91.
PMID 9950168
 
Megakaryoblastic leukemia-1/2, a transcriptional co-activator of serum response factor, is required for skeletal myogenic differentiation.
Selvaraj A, Prywes R.
J Biol Chem. 2003 Oct 24;278(43):41977-87. Epub 2003 Aug 14.
PMID 14565952
 
Chondroid lipoma is characterized by t(11;16)(q13;p12-13).
Ballaux F, Debiec-Rychter M, De Wever I, Sciot R.
Virchows Arch. 2004 Feb;444(2):208-10. Epub 2004 Jan 14.
PMID 14722764
 
Lipoma of the oral and maxillofacial region: Site and subclassification of 125 cases.
Furlong MA, Fanburg-Smith JC, Childers EL.
Oral Surg Oral Med Oral Pathol Oral Radiol Endod. 2004 Oct;98(4):441-50. (REVIEW)
PMID 15472660
 
Chondroid lipoma.
Weiss SW, Goldblum JR.
Enzinger and Weiss's Soft Tissue Tumors, 5th ed. Philadelphia: Mosby. 2008; 442-444.
 
C11orf95-MKL2 is the resulting fusion oncogene of t(11;16)(q13;p13) in chondroid lipoma.
Huang D, Sumegi J, Dal Cin P, Reith JD, Yasuda T, Nelson M, Muirhead D, Bridge JA.
Genes Chromosomes Cancer. 2010 Sep;49(9):810-8.
PMID 20607705
 
Delineation of chondroid lipoma: an immunohistochemical and molecular biological analysis.
de Vreeze RS, van Coevorden F, Boerrigter L, Nederlof PM, Haas RL, Bras J, Rosenwald A, Mentzel T, de Jong D.
Sarcoma. 2011;2011:638403. Epub 2011 Apr 20.
PMID 21559269
 
Chondroid lipoma: an update and review.
Thway K, Flora RS, Fisher C.
Ann Diagn Pathol. 2012 Jun;16(3):230-4. (REVIEW)
PMID 22607659
 
Chondroid lipoma.
Kindblom LG, Bridge JA, Meis-Kindblom JM.
In: Fletcher CDM, Bridge JA, Hogendoorn PCW, Mertens F, editors. World Health Organization Classification of Tumours. Pathology and Genetics of Tumours of Soft Tissue and Bone. In press. Lyon: IARC Press.
 
REVIEW articlesautomatic search in PubMed
Last year articlesautomatic search in PubMed

Contributor(s)

Written06-2012Julia A Bridge, Dali Huang, Janos Sumegi
Department of Pathology and Microbiology, University of Nebraska Medical Center, Omaha, NE 68198-3135, USA

Citation

This paper should be referenced as such :
Bridge, JA ; Huang, D ; Sumegi, J
Soft Tissue Tumors: Lipoma: Chondroid lipoma
Atlas Genet Cytogenet Oncol Haematol. 2012;16(11):856-859.
Free online version   Free pdf version   [Bibliographic record ]
URL : http://AtlasGeneticsOncology.org/Tumors/ChondroidLipomaID5164.html

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Sat Jul 26 14:21:06 CEST 2014


Home   Genes   Leukemias   Solid Tumours   Cancer-Prone   Deep Insight   Case Reports   Journals  Portal   Teaching   

For comments and suggestions or contributions, please contact us

jlhuret@AtlasGeneticsOncology.org.