Bone marrow metastasis of desmoplastic small round cell tumor.
ABSTRACT Desmoplastic small round cell tumor is an extremely rare and highly aggressive neoplasm. It usually arises as a single mass or multiple masses in the abdominal cavity, characterized by diffuse peritoneal implants, involvement of regional lymph nodes, and liver and lung metastases. However, bone marrow metastasis has rarely been reported in the literature. We present a case of clinically symptomatic bone marrow metastasis in a 25-year-old woman with a diagnosis of desmoplastic small round cell tumor originating from the pelvic cavity.
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ABSTRACT: Intraabdominal desmoplastic small round cell tumor (IDSRCT) is a rare tumor with poor prognosis that usually develops in the peritoneal cavity, often in childhood and adolescence. This tumor typically arises as single or multiple masses, and is characterized by diffuse peritoneal implants and the involvement of regional lymph nodes. Because most patients are unable to achieve a complete response with chemotherapy alone, extensive efforts have been made to develop more effective chemotherapy regimens. Here, we report on a case of IDSRCT in a 33-year-old man treated with ifosfamide (IFM)-based chemotherapy. Before treatment initiation, the patient had extensive ascites in the peritoneal cavity and was experiencing abdominal fullness and anorexia. Currently, 8months after his initial presentation, he is still undergoing chemotherapy and is in good general condition.Clinical Journal of Gastroenterology 01/2010; 3(1):25-29.
Desmoplastic small round cell tumor (DSRCT) is a
rare malignancy with highly aggressive behavior,
spreading widely along the serosal surface1. Gerald and
Rosai2first described the disease in 1989. The distinc-
tive clinicopathological entity is characterized by a high
frequency of appearance in young adolescent males, a
predominant intraabdominal location, poor prognosis,
and a primitive histological appearance. Histologically,
nests of small round tumor cells that coexpress epithe-
lial, mesenchymal, and neural cell markers are sur-
rounded by a cellular desmoplastic stroma3. Molecular
studies have revealed a specific recurrent chromosomal
translocation, t(11;22)(p13;q12), resulting in a fusion
gene between the Ewing’s sarcoma gene and the
DSRCT has a tendency to metastasize to many sites
including lymph nodes, liver and lungs. Among the
sites of systemic metastasis from DSRCT, bone and
bone marrow are very rare. We describe for the first
time the natural history of a case of DSRCT with symp-
tomatic bone marrow metastasis.
A 25-year-old woman presented with perianal pain
of 2 months’ duration and was referred to the depart-
ment of colorectal surgery of our hospital. She had a
history of constipation that had persisted for more than
10 years. On physical examination, firm nodular mass-
es were noted around the anus. Bilateral palpable in-
guinal lymph nodes were present. Her serum CA 125
concentration was 72.7 IU/mL (normal upper limit 35
IU/mL). Computed tomography (CT) showed an 8.3 ×
11.5 cm soft tissue mass in the perianal region (Figure
1). Multifocal masses and enlarged lymph nodes were
also found in the pelvic cavity (Figure 2). A biopsy of
the mass was performed. The microscopic appearance
showed islands of small round cells separated by col-
lagenous stroma. The cells had hyperchromatic nuclei,
inconspicuous nucleoli, scanty eosinophilic cytoplasm,
and poorly defined borders (Figure 3). Upon immuno-
histochemical staining, the tumor cells were positive
for cytokeratin, desmin, vimentin and neuron-specific
enolase. On the basis of these findings, a diagnosis of
DSRCT was made.
Tumori, 93: 511-513, 2007
BONE MARROW METASTASIS
OF DESMOPLASTIC SMALL ROUND CELLTUMOR
Jing Deng1, Nong Xu1, Peng Shen1, Zhaoming Wang2, Xiaochen Zhang1, Haiyan Lou3, and Genming Shi1
1Department of Medical Oncology, 2Department of Pathology, 3Department of Radiology, First Affiliated Hospital of Medical College,
Zhejiang University, Hangzhou, China
Key words: bone marrow, desmoplastic small round cell tumor, metastasis.
Desmoplastic small round cell tumor is an extremely rare and
highly aggressive neoplasm. It usually arises as a single
mass or multiple masses in the abdominal cavity, character-
ized by diffuse peritoneal implants, involvement of regional
lymph nodes, and liver and lung metastases. However, bone
marrow metastasis has rarely been reported in the literature.
We present a case of clinically symptomatic bone marrow
metastasis in a 25-year-old woman with a diagnosis of
desmoplastic small round cell tumor originating from the
Acknowledgments: We wish to thank Drs Juzhen Song, Ting Zhang and Dan Shen of the hematopathology lab for their help.
Correspondence to: Nong Xu, MD, Director, Department of Medical Oncology, the First Affiliated Hospital of Medical College, Zhejiang
University, 79 Qingchun Road, Hangzhou, 310003, P.R. China. Tel +86-571-85536213; fax +86-571-56731277, +86-571-87236557;
Received December 20, 2006; accepted May 11, 2007.
Figure 1 - Computed tomography scan of pelvis showed an 8.3 × 11.5 cm
soft tissue mass in the perianal region.
In order to relieve the symptoms of incomplete ileus,
exploratory laparotomy and an artificial excretory open-
ing from the sigmoid flexure were performed. Intraop-
eratively, firm and fixed masses were palpated on both
sides of the pelvis, surrounding the iliac vessel. Masses
were also found in Douglas’ cul-de-sac, wrapping the
rectum and uterus. About 200 mL ascitic fluid was de-
tected. Cytoreductive surgery was impossible.
Twenty days after surgery, the patient was transferred to
our department and prepared for chemotherapy. However,
she was found to have developed anemia and thrombocy-
topenia in the interim. Case review showed that her hemo-
globin level had dropped from 130 g/L to 69 g/L while
her platelet level had dropped from 212 × 109/L to 14 ×
109/L. Bone marrow aspirate and biopsy of the posterior
iliac crest were performed and clusters of blasts were
identified in her bone marrow smears. The neoplastic cells
contained abundant cytoplasm and large nuclei with fine
chromatin and inconspicuous nucleoli (Figure 4).
Immunohistochemical staining showed that the cells
lacked lineage markers of lymphoid or myeloid cells and
expressed characteristic cellular markers of DSRCT. In
addition, CT revealed pleural and mediastinal lymph node
metastases. A whole-body bone scan using 99mTc-MDP
documented widespread bone metastases. We suggested a
treatment course involving systemic chemotherapy com-
bined with intensive transfusional and G-CSF support.
Because of concerns about the possible side effects of
chemotherapy and the economic burden, she decided to
forgo the recommended therapy and was discharged with
palliative support. She survived for only 4 months from
the time of diagnosis.
DSRCT occurs mostly in men, with a male to female
ratio ranging between 2:1 and 5:1. It tends to occur at a
relatively young age, with a reported median age at di-
agnosis of 21 years. DSRCT presents with abdominal
pain, distension and masses with secondary pressure
symptoms5. CT features are peritoneal involvement
with several bulky heterogeneous and necrotic soft tis-
sue masses without any obvious organ base, which is
sometimes associated with ascites, adenopathies and
DSRCT typically metastasizes to the liver, lungs, and
lymph nodes. Involvement of bones and bone marrow is
extremely rare and not generally extensive7. There is
only one paper that mentioned about a DSRCT patient
with bone marrow involvement8. Our case demonstrates
the possibility of bone and bone marrow metastases
from DSRCT and indicates that whole-body bone scans
and bone marrow aspiration and biopsy are necessary in
DSRCT patients. In addition, this case offers us an im-
portant bone marrow metastasis image of DSRCT,
which will allow us to differentiate it in future studies
from other bone marrow-involving tumors such as Ew-
J DENG, N XU, P SHEN ETAL
Figure 2 - Computed tomography scan of pelvis showed multifocal mass-
es and enlarged lymph nodes in the pelvic cavity.
Figure 4 - The bone marrow aspirate contained tumor cells with large nu-
clei, vacuolated bluish cytoplasm, fine chromatin and inconspicuous nu-
cleoli. These cells lacked lineage markers of lymphoid or myeloid cells.
Wright-Giemsa stain, magnification ×1000.
Figure 3 - Small round tumor cells with a diffuse growth pattern were
embedded in a desmoplastic stroma. HE stain, magnification ×100.
ing sarcoma and lymphoma. Finally, because of its fast-
growing and widespread metastases, this case empha-
sizes the importance of early detection and prompt
Systemic chemotherapy is one of the most important
treatments for DSRCT. Many chemotherapy combina-
tions have been tried, but the optimal scheme has yet to
be determined. An intensive alkylator-based chemother-
apy regimen (P6 protocol) appears to improve survival
when compared with standard-dose chemotherapy in
retrospective series7. However, this regimen causes sig-
nificant toxicity and requires intensive transfusional and
antibiotic support9,10. In our experience, untreated
DSRCT has been confirmed to be sensitive to the alter-
nated use of CAV (cyclophosphamide, doxorubicin,
vincristine) at the standard dosage and the ifosfamide
plus etoposide regimen. The toxicity is well tolerated
and a high quality of life is achieved. Regarding this fe-
male patient, considering she had developed systemic
bone marrow metastasis and her platelet level dropped
below the safe level permitted for chemotherapy, the
CAV protocol would have been more appropriate and
beneficial to her than any other aggressive regimen.
In spite of intensive efforts to improve outcomes in
DSCRT through conventional therapies, the prognosis
of DSRCT is extremely poor, with only 29% of patients
surviving up to 3 years11. Breakthroughs in treatment
are likely to be made by the use of novel treatment ap-
proaches. It is interesting to note that SU101, an in-
hibitor of the PDGF receptor pathway, produced rapid
symptom improvement and prolonged disease stabiliza-
tion in a patient with refractory progressive DSRCT
treated in a phase I trial12. Additional research is fo-
cused on immunotherapies that target DSRCT-specific
antigens. Two DSRCT cell surface antigens that can be
targeted by monoclonal antibodies have been identified:
GD2, recognized by the antibody 3F8, and a novel 58
kDa glycoprotein recognized by the antibody 8H913. In
2 recent studies, 96% of DSRCT tumors tested positive
with 8H9 and 70% with GD213,14. This strategy may
have the potential advantage of decreased toxicity, be-
cause both of these antibodies specifically target anti-
gen-expressing neoplastic cells and have restricted
cross-reactivity with most normal tissues15. Clearly, in-
tense research efforts are needed in order to improve
outcomes in this disease.
In summary, we reported a case of bone marrow
metastasis from DSRCT. Aside from its extreme rarity,
this case illustrates the characteristic clinical picture
and dismal prognosis of this tumor. Bone marrow as-
piration and biopsy are strongly recommended for
DSRCT patients. In spite of multimodality therapy, the
survival rates of this malignancy remain disappoint-
ing. Future efforts must focus on early diagnosis and
BONE MARROW METASTASIS OF DESMOPLASTIC SMALL ROUND CELLTUMOR
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