Solid Tumour Section Short Communication Atlas Genet Cytogenet Oncol Haematol. 2012; 16(11) 856 INIST-CNRS OPEN ACCESS JOURNAL Atlas of Genetics and Cytogenetics in Oncology and Haematology Soft Tissue Tumors: Lipoma: Chondroid lipoma Julia A Bridge, Dali Huang, Janos Sumegi Department of Pathology and Microbiology, University of Nebraska Medical Center, Omaha, NE 68198- 3135, USA (JAB, DH, JS) Published in Atlas Database: June 2012 Online updated version : http://AtlasGeneticsOncology.org/Tumors/ChondroidLipomaID5164.html DOI: 10.4267/2042/48237 This work is licensed under a Creative Commons Attribution-Noncommercial-No Derivative Works 2.0 France Licence. © 2012 Atlas of Genetics and Cytogenetics in Oncology and Haematology Identity 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. Figure 1. Lower and higher power fields (left and right respectively) of chondroid lipoma.
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Solid Tumour Section Short Communication
Atlas Genet Cytogenet Oncol Haematol. 2012; 16(11) 856
INIST-CNRS
OPEN ACCESS JOURNAL
Atlas of Genetics and Cytogenetics in Oncology and Haematology
Soft Tissue Tumors: Lipoma: Chondroid lipoma Julia A Bridge, Dali Huang, Janos Sumegi
Department of Pathology and Microbiology, University of Nebraska Medical Center, Omaha, NE 68198-3135, USA (JAB, DH, JS)
Published in Atlas Database: June 2012
Online updated version : http://AtlasGeneticsOncology.org/Tumors/ChondroidLipomaID5164.html DOI: 10.4267/2042/48237
This work is licensed under a Creative Commons Attribution-Noncommercial-No Derivative Works 2.0 France Licence. © 2012 Atlas of Genetics and Cytogenetics in Oncology and Haematology
Identity 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.
Figure 1. Lower and higher power fields (left and right respectively) of chondroid lipoma.
Soft Tissue Tumors: Lipoma: Chondroid lipoma Bridge JA, et al.
Atlas Genet Cytogenet Oncol Haematol. 2012; 16(11) 857
Figure 2. Partial karyotype and corresponding schematic illustrating the 11;16 translocation recurrent in chondroid lipoma.
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.
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).
Genes involved and proteins 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.
Soft Tissue Tumors: Lipoma: Chondroid lipoma Bridge JA, et al.
Atlas Genet Cytogenet Oncol Haematol. 2012; 16(11) 858
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). 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 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.
References Meis JM, Enzinger FM. Chondroid lipoma. A unique tumor simulating liposarcoma and myxoid chondrosarcoma. Am J Surg Pathol. 1993 Nov;17(11):1103-12
Soft Tissue Tumors: Lipoma: Chondroid lipoma Bridge JA, et al.
Atlas Genet Cytogenet Oncol Haematol. 2012; 16(11) 859
Kindblom LG, Meis-Kindblom JM. Chondroid lipoma: an ultrastructural and immunohistochemical analysis with further observations regarding its differentiation. Hum Pathol. 1995 Jul;26(7):706-15
Nielsen GP, O'Connell JX, Dickersin GR, Rosenberg AE. Chondroid lipoma, a tumor of white fat cells. A brief report of two cases with ultrastructural analysis. Am J Surg Pathol. 1995 Nov;19(11):1272-6
Logan PM, Janzen DL, O'Connell JX, Munk PL, Connell DG. Chondroid lipoma: MRI appearances with clinical and histologic correlation. Skeletal Radiol. 1996 Aug;25(6):592-5
Gisselsson D, Domanski HA, Höglund M, Carlén B, Mertens F, Willén H, Mandahl N. 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. Am J Surg Pathol. 1999 Oct;23(10):1300-4
Thomson TA, Horsman D, Bainbridge TC. Cytogenetic and cytologic features of chondroid lipoma of soft tissue. Mod Pathol. 1999 Jan;12(1):88-91
Selvaraj A, Prywes R. Megakaryoblastic leukemia-1/2, a transcriptional co-activator of serum response factor, is required for skeletal myogenic differentiation. J Biol Chem. 2003 Oct 24;278(43):41977-87
Ballaux F, Debiec-Rychter M, De Wever I, Sciot R. Chondroid lipoma is characterized by t(11;16)(q13;p12-13). Virchows Arch. 2004 Feb;444(2):208-10
Furlong MA, Fanburg-Smith JC, Childers EL. Lipoma of the oral and maxillofacial region: Site and subclassification of 125
cases. Oral Surg Oral Med Oral Pathol Oral Radiol Endod. 2004 Oct;98(4):441-50
Weiss SW, Goldblum JR.. Chondroid lipoma. Enzinger and Weiss's Soft Tissue Tumors, 5th ed. Philadelphia: Mosby. 2008; 442-444.
Huang D, Sumegi J, Dal Cin P, Reith JD, Yasuda T, Nelson M, Muirhead D, Bridge JA.. C11orf95-MKL2 is the resulting fusion oncogene of t(11;16)(q13;p13) in chondroid lipoma. Genes Chromosomes Cancer. 2010 Sep;49(9):810-8.
de Vreeze RS, van Coevorden F, Boerrigter L, Nederlof PM, Haas RL, Bras J, Rosenwald A, Mentzel T, de Jong D.. Delineation of chondroid lipoma: an immunohistochemical and molecular biological analysis. Sarcoma. 2011;2011:638403. Epub 2011 Apr 20.
Thway K, Flora RS, Fisher C.. Chondroid lipoma: an update and review. Ann Diagn Pathol. 2012 Jun;16(3):230-4. (REVIEW)
Kindblom LG, Bridge JA, Meis-Kindblom JM.. Chondroid lipoma. 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.
This article 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.
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