Download Solid Tumour Section Soft Tissue Tumors: Lipoma: Chondroid lipoma

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Solid Tumour Section
Short Communication
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 681983135, 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
Clinics and pathology
Chondroid lipoma is a benign adipose tissue tumour
that features clinical, morphologic, and genetic
characteristics that are distinct from the common
conventional lipoma.
Disease
Classification
Chondroid lipoma is an extremely rare benign adipose
tissue tumour. Most tumours arise in adult women.
Chondroid lipoma
Epidemiology
Chondroid lipoma is a benign lipomatous neoplasm.
Figure 1. Lower and higher power fields (left and right respectively) of chondroid lipoma.
Atlas Genet Cytogenet Oncol Haematol. 2012; 16(11)
856
Soft Tissue Tumors: Lipoma: Chondroid lipoma
Bridge JA, et al.
Figure 2. Partial karyotype and corresponding schematic illustrating the 11;16 translocation recurrent in chondroid lipoma.
Clinics
Cytogenetics
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.
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
Pathology
C11orf95
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.
Atlas Genet Cytogenet Oncol Haematol. 2012; 16(11)
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.
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Soft Tissue Tumors: Lipoma: Chondroid lipoma
Bridge JA, et al.
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
Fusion Protein
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).
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.
Result of the chromosomal
anomaly
References
Hybrid Gene
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Description
The 11;16 translocation results in fusion of exons 5 and
9 of the C11orf95 and MKL2 genes respectively.
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Bridge JA, et al.
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