Cytogenetic Analysis

of Dermatofibrosarcoma Protuberans
Julia A. Bridge, James R. Neff, and Avery A. Sandberg

ABSTRACT: A case of dermatofibrosarcoma protuberans that occurred in an old burn scar over the
anterior chest wall of a 46-year-old man is reported. Cytogenetic analysis of the tumor cells
showed the presence of two abnormal clones: 47,XY,+8 and 48,XY,+8,+r.

INTRODUCTION
Dermatofibrosarcoma protuberans (DP) is an u n c o m m o n , locally aggressive, but rarely
metastasizing tumor of the deep dermis [1]. It typically presents during early or
m i d a d u l t life and is most frequently located on the trunk and proximal extremities.
With the exception of malignant melanoma, the literature regarding cytogenetic
findings of primary skin tumors is sparse [2-4]. To our knowledge, cytogenetic analysis of DP has not been reported previously.

CASE REPORT

A 46-year-old white male developed a n o n t e n d e r mass over the left shoulder in an

old b u r n scar managed approximately 20 years ago. The mass had increased steadily
in size several months before he was admitted to the hospital but was not fixed to
deep structures. The lesion was locally excised, i n c l u d i n g the deep fascia and muscle,
and the defect was closed with a split-thickness skin graft. A portion of the specimen
was submitted for cytogenetic analysis.
The neoplasm measuring 8.0 7.5 x 1.5 cm was located in the dermis. Histopathologic sections of the neoplasm showed radial whorls of spindle cells producing a
storiform pattern, with infiltration of the subcutaneous fat and u n d e r l y i n g skeletal
muscle (Fig. 1). A diagnosis of DP was made.

RESULTS

G-banded chromosome preparations of surgically excised tumor were made after 9day culture, as previously described [5]. Twenty-five metaphase cells were analyzed,
six of which were karyotypically normal. Two abnormal clones were observed in the
r e m a i n i n g cells and consisted of the following: five cells with 47,XY,+8 and 14 cells
From the Cancer Center of Southwest Biomedical Research Institute of Genetrix, Scottsdale, Arizona
{J. A. B., A. A. S.), and the Department of Pathology and Oncologyand Departmentof Orthopaedic Surgery,
Universityof Kansas Medical Center, Kansas City, Kansas (l. A. B., J. R. N.).
Address reprint requests to: Dr. Julia A. Bridge, Department of Pathology and On cology,
University of Kansas Medical Center, 39th and Rainbow Blvd., Kansas City, KS 66103.
Received January 12, 1990; accepted February 14, 1990.

199
1990 Elsevier SciencePublishingCo., Inc.
655 Avenue of the Americas, New York, NY 10010

Cancer Genet Cytogenet49:199 202 (1990)

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J. A. Bridge et al.

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Figure 1

neoplasmconsisted of slightly

atypical spindle-shaped
cells arranged in a whorlfat (upper right-hand
corner] and skeletal muscle
(lower left-hand corner). (Original magnification x 200. reduced by 2U/ir).
like fashion

with

invasion

with 48,XY,+8,+r
ring chromosome.

of subcutaneous

(Fig. 2). C-banding was performed for better characterization

A single centromere was identified.

of the

DISCUSSION

Dermatofibrosarcoma
protuberans was first described by Darier and Ferrand [6] as a
progressive and recurring dermatofibroma. It is a nodular cutaneous tumor characterized by a prominent storiform pattern; it tends to recur but metastasizes infrequently. It is considered a neoplasm of intermediate malignancy.
The histopathogenesis
of DP is controversial. Histologically, ultrastructurally, and
by tissue culture, DP is similar to benign and malignant fibrous histiocytoma (MFH).
These data have led some investigators to consider DP to be of fibroblastic or histocytic
origin [7-g]. Others have proposed a Schwannian derivation based on detailed morphologic and electron microscopic examinations [10, 111,
Cytogenetically,
the present case of DP was characterized by two abnormal clones,
one with trisomy 8 as the sole abnormality and the other with trisomy 8 and a marker
ring chromosome. Trisomy 8 appears to be the primary abnormality, with the ring
chromosome occurring as a secondary abnormality with evolution of an additional
clone. Trisomy 8 is not a frequently reported primary chromosomal anomaly, particu-

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Cytogenetics of Dermatofibrosarcoma Protuberans

t.3

14

Ib

~9

20

IO

16

XY

~1

12

I7

18

rln9

Figure 2 Representative karyotype of secondary clone with trisomy 8 and marker ring chromosome. The Y chromosome was missing in only this one metaphase.

larly in m e s e n c h y m a l neoplasms. Several hematologic conditions associated with

trisomy 8 have been reported in the literature [12]. In particular, trisomy 8 occurring
in acute and chronic myelogenous leukemia provides information as to the progress
of the clinical course [13, 14].
Cytogenetic investigations of MFH have shown simple trisomies (trisomy 7) [5], as
well as m u l t i p l e c o m p l e x abnormalities including telomeric association, HSRs, double m i n u t e s (dmins), and ring chromosomes [15-17]. In contrast to the present case
of DP, the cases of MFH in w h i c h ring chromosomes were identified also s h o w e d
a n u m b e r of other chromosomal abnormalities, in particular telomeric association
[15,161.
Few reports describe the cytogenetic findings in malignant S c h w a n n o m a s [18,191.
These data failed to indicate any consistently abnormal chromosome or chromosomal
segments. Rather, the chromosomal aberrations observed involved m u l t i p l e sites with
both net losses and net gains of a variety of chromosome segments. Among these
various abnormalities, however, ring chromosomes were identified in at least one
case [18]. As observed in the reported cases of MFH, however, the ring c h r o m o s o m e s
were a c c o m p a n i e d by numerous other structural and numerical abnormalities.
The etiology of ring c h r o m o s o m e s is uncertain. The concurrence of teloineric
association and ring chromosomes has generated the concept of telomeric association
as a precursory step in the genesis of a ring chromosome [16, 20]. Telomeric association, however, was not striking in the present case.
Ring c h r o m o s o m e s are r e p o r t e d l y characteristic of intramuscular or deep-seated
lipomas [21]. This is the only neoplasm to date that appears to be characterized by
this distinct structural abnormality. The ring chromosome observed in intramuscular
lipomas is believed to be derived from c h r o m o s o m e 3. The ring c h r o m o s o m e observed
in the present case did not appear to be derived from c h r o m o s o m e 3.
In conclusion, trisomy 8 and a marker ring chromosome were identified in a

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J.A. Bridge et al.

case of DP. A d d i t i o n a l cases m u s t be s t u d i e d to d e t e r m i n e t h e s i g n i f i c a n c e of t h i s
finding.
This work was supported in part by a grant through the Orthopaedic Research Education
Foundation (OREF}.

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