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Journal of Orthopaedic Science xxx (2018) 1e5
Contents lists available at ScienceDirect
Journal of Orthopaedic Science
journal homepage: http://www.elsevier.com/locate/jos
Case Report
Desmoplastic fibroma of bone arising in the cortex of the proximal
femur
Takahiro Ishizaka a, Michiro Susa a, *, Chiaki Sato a, Keisuke Horiuchi a, Ayano Koga b,
Fumihisa Kumazawa b, Hideyuki Shimazaki b, Kazuhiro Chiba a
a
b
Department of Orthopedic Surgery, National Defense Medical College, 3-2 Namiki, Tokorozawa, Saitama 359-8513, Japan
Department of Laboratory Medicine, National Defense Medical College Hospital, 3-2 Namiki, Tokorozawa, Saitama 359-8513, Japan
a r t i c l e i n f o
Article history:
Received 14 September 2017
Received in revised form
8 April 2018
Accepted 18 July 2018
Available online xxx
1. Introduction
Desmoplastic fibroma (DF) of bone is a rare, locally aggressive
but non-metastatic primary bone tumor first described by Jaffe in
1958 [1]. DF is a fibroblastic neoplasm consisting of welldifferentiated myofibroblasts with abundant collagenous tissue.
The incidence of DF is estimated to be approximately 0.1% of all
bone tumors with slight prevalence in males. It most commonly
affects the mandible and less frequently in other bones. To date,
approximately 200 cases of DF have been reported in the literature
with only 8 cases of DF occurring in the proximal femur.
In this report, we present a rare case of DF arising in the anterior
cortex of the proximal femur, with a review of the literature. The
patient and his family were informed that data from the case would
be submitted for publication, and gave their consent.
2. Report of the case
A 32-year-old man was referred to our clinic with a gradually
deteriorating pain of the right thigh. On physical examination, the
overlying skin showed no redness or swelling. There was no
tenderness or limitation in range of motion of the hip and knee, but
there was slight atrophy of the quadriceps muscle probably due to
pain. On X-ray, there was an osteolytic lesion in the anterior half of
the proximal femur (Fig. 1).
* Corresponding author.
E-mail address: mitchsusa@gmail.com (M. Susa).
Similarly, on computed tomography (CT), the lesion was
localized in the anterior cortex of the proximal femur with cortical
breach mainly toward the surrounding soft tissue (Fig. 2). On
magnetic resonance imaging (MRI) scans, there was a
3.3 cm 2.3 cm lobular mass which showed low intensity on
T1WI and intermediate intensity on T2WI. Gadolinium-contrast
administration showed uniform enhancement of the lesion
extending into both the intramedullary cavity and surrounding
soft tissue (Fig. 3). The blood examination results were all in the
normal range. Because clinical symptoms and radiological findings suggested a malignant bone tumor such as an osteosarcoma,
open biopsy was performed. On histological examination, the
lesion was composed of proliferation of spindle-shaped cells in a
collagenous background with scant mitosis, suggestive of desmoplastic fibroma, but low grade fibrosarcoma and osteosarcoma
could not be completely ruled out. Therefore, wide resection was
performed with 2 cm margin from the tumor (Fig. 4). The defect
was reconstructed by recycling the resected bone after liquid nitrogen devitalization with the addition of auto-fibula inlay graft.
On gross examination, the tumor consisted of greyish white material eroding the cortex and infiltrating the surrounding tissue.
All the attached soft tissue and tumor was excised from the bone
and the recycled bone was fixed with a locking plate. Histologically, hematoxylin and eosin (HE) staining showed similar results
as the open biopsy with atypical spindle cells among the collagenous stroma. Nuclear atypia and mitoses were rare (Fig. 5).
Immunohistochemically, MDM2, CDK4, MUC4, STAT6 and b-catenin staining were all negative. GNAS mutation was also negative.
MIB-1 index was less than 5%. Based on these histological and
radiographic findings, desmoplastic fibroma was chosen as the
final diagnosis. The postoperative period was uneventful, and at
the final follow-up after 8 months, bridging callus is observed in
both the proximal and distal junction (Fig. 6). No local recurrence
or metastasis has been observed.
3. Discussion
DF of bone is a rare benign tumor usually occurring in patients
younger than 30 years. Of the 10,165 primary bone tumors reported
https://doi.org/10.1016/j.jos.2018.07.011
0949-2658/© 2018 The Japanese Orthopaedic Association. Published by Elsevier B.V. All rights reserved.
Please cite this article in press as: Ishizaka T, et al., Desmoplastic fibroma of bone arising in the cortex of the proximal femur, Journal of
Orthopaedic Science (2018), https://doi.org/10.1016/j.jos.2018.07.011
2
T. Ishizaka et al. / Journal of Orthopaedic Science xxx (2018) 1e5
Fig. 1. (a) Anteroposterior and (b) lateral radiograph of the femur at the initial presentation. The tumor is depicted as an osteolytic lesion in the anterior half of the proximal femur.
Fig. 2. On CT, the tumor is approximately 3 3 cm in size and is situated in the anterior cortex of the proximal femur (a, b) with expansion into the anterior surrounding soft tissue.
by Unni and Inwards, 16 were reported to be DF (0.16%) [2]. Initial
symptoms include pain and swelling, but approximately 10% has
been reported to present with pathological fractures [3]. The most
common location is in the mandible followed by long tubular bones
[4]. Of the 31 cases of DF occurring in the femur that have been
reported in the literature, only 8 cases resided in the proximal femur [3,5e8] and the remaining 23 cases were in the distal femur
[3,9e17].
Radiographically, DF is characterized as a slowly expanding
osteolytic lesion arising in the medullary canal with or without
destruction of the cortex. Periosteal reaction and mineralization is
uncommon. In the present case, the epicenter of the lesion is
localized in the cortex as depicted on CT, which suggests its true
origin. Intracortical localization of the DF has not been reported to
date. Differential diagnosis includes benign lesions such as fibrous
cortical defect, intracortical abscess, fibrous dysplasia and
Please cite this article in press as: Ishizaka T, et al., Desmoplastic fibroma of bone arising in the cortex of the proximal femur, Journal of
Orthopaedic Science (2018), https://doi.org/10.1016/j.jos.2018.07.011
T. Ishizaka et al. / Journal of Orthopaedic Science xxx (2018) 1e5
3
Fig. 3. On MRI, the tumor resided in the anterior cortex of the proximal femur. The lesion is depicted as low intensity on T1WI (a) and high intensity on T2WI (b). Gadoliniumcontrast administration showed uniform enhancement of the lesion (c, d).
Fig. 4. Intraoperative photographs. (a) Spindle shaped incision was designed to include the biopsy tract. (b) After wide resection of the tumor. (c) Resected specimen. (d) Soft tissue
and the tumor was excised from the bone and processed using liquid nitrogen. Auto-fibula was utilized as an inlay graft for early bone union. (e) The recycled bone with inlay fibula
was fixed with a locking plate.
Please cite this article in press as: Ishizaka T, et al., Desmoplastic fibroma of bone arising in the cortex of the proximal femur, Journal of
Orthopaedic Science (2018), https://doi.org/10.1016/j.jos.2018.07.011
4
T. Ishizaka et al. / Journal of Orthopaedic Science xxx (2018) 1e5
Fig. 5. Photomicrograph of HE staining demonstrating proliferation of spindle cells in dense collagenous background. Tumor invasion is observed in the surrounding bone cortex
and soft tissue (a). Nuclear atypia and mitoses are rare on higher powered HE image (b).
Fig. 6. (a) Postoperative radiograph. (b) 8 months postoperative radiograph. Bridging callus is observed in both the proximal and distal junction of the recycled bone.
malignant lesions such as intracortical osteosarcoma and adamantinoma. MRI is effective for evaluating the intra and extraosseous extension of the tumor and relatively intermediate intensity on T2WI could potentially differentiate the tumor from
cystic lesions. PET-CT has been suggested as a modality to distinguish between benign and malignant tumors, but histological examination is imperative to make a definitive diagnosis.
HE staining of the tumor is insufficient to make a definitive
diagnosis. Although malignant tumors such as fibrosarcoma typically has higher cellularity and herringbone pattern with pleomorphism and higher mitotic activity and osteosarcoma is
characterized by osteoids, their low grade variants sometimes
exhibit strikingly similar futures to DF. There are still conflicting
reports of whether there is abnormality in the karyotypes. Fluorescence in situ hybridization analyses have demonstrated trisomies 8 and 20 as nonrandom aberrations in benign fibrous
conditions of both bone and soft tissue [18]. Trombetta et al. reported on a recurrent chromosome aberration in11q and 19p after
short-term culturing of the tumor [19]. Furthermore, to date, there
is no reliable immunohistochemical markers that differentiate DF
from other spindle cell lesions; therefore, this entity remains a
diagnosis of exclusion. Positive immunoreactivity is observed for
vimentin and smooth muscle actin, whereas S100 and muscle
specific actin are often negative. Ki67 is generally less than 5%. A
recent study has demonstrated positivity for MDM2 and/or CDK4
for low grade osteosarcoma [20], which were both negative in our
case. To further exclude other lesions, MUC4 (marker for rare
sclerosing epithelioid fibrosarcoma) and STAT6 (marker for solitary
fibrous tumor) were stained to differentiate DF. Desmoid-type
fibromatosis, which is considered a soft tissue counterpart of DF,
generally exhibit diffuse b-catenin nuclear accumulation whereas it
is less frequent in DF. In 13 cases of DF analyzed for staining of bcatenin, only one case showed accumulation of b-catenin in the
nucleus [21]. Additionally, the same group analyzed 6 cases of DF,
focusing on mutations in the b-catenin gene, all of which were
negative. Fibrous dysplasia (FD) is an entity that also needs to be
differentiated from DF, albeit benign. FD is characterized by hypocellular fibrous connective tissue stroma with numerous
Please cite this article in press as: Ishizaka T, et al., Desmoplastic fibroma of bone arising in the cortex of the proximal femur, Journal of
Orthopaedic Science (2018), https://doi.org/10.1016/j.jos.2018.07.011
T. Ishizaka et al. / Journal of Orthopaedic Science xxx (2018) 1e5
irregularly-shaped trabeculae of woven bone giving its “Chinese
character” appearance. DF shares many similar characteristics, but
FD has been reported to be associated with a missense mutation in
the GNAS1 gene on chromosome 20 which was negative in our case
[22].
Treatment for DF is still controversial due to its rarity. Gebhardt
et al. reported that 42% of the tumors recurred after curettage but
only 25% recurred after en bloc resection [5]. Local recurrence after
curettage has been reported to be as high as 70% [23]. Radiotherapy
and various adjuvant therapies have been reported with positive
results; however, additional studies are needed to analyze their
effectiveness. In case of DF in the extremity, intralesional resection
with local adjuvant treatment has been proposed as an option,
although operation for local recurrence is a possibility after initial
procedure. For lesions located in the trunk, local recurrence poses
significant difficulty in discerning the margin, therefore accurate
wide resection is the treatment of choice for improved prognosis. In
the present case, because of the ambiguity in diagnosis, wide
resection was selected. Due to its high rate of local recurrence, strict
follow-up is recommended for up to 3 years [24].
In conclusion, a rare DF arising in the cortex of the proximal
femur was successfully treated with wide resection and reconstruction with liquid nitrogen treated recycled bone and fibula inlay
graft. The rarity of DF arising in the cortex of the proximal femur has
not enabled the prediction of the outcome, therefore further
follow-up is warranted.
Conflict of interest
The authors declare that they have no conflict of interest.
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Please cite this article in press as: Ishizaka T, et al., Desmoplastic fibroma of bone arising in the cortex of the proximal femur, Journal of
Orthopaedic Science (2018), https://doi.org/10.1016/j.jos.2018.07.011
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