Retno Ayu Adhisy, MD

Consultant:
Susanto Nugroho, MD Pediatrician Consultant
A RARE CASE OF DESMOPLASTIC SMALL
ROUND CELL TUMOR IN A 6-YEAR-OLD BOY
ABBREVIATIONS
DSRCT : Desmoplastic Small Round Cell Tumor
CT scan : Computerised Tomography
FNAB : Fine Needle Aspiration Biopsy
PNET : Primary Neuroectodermal Tumor

INTRODUCTION
DSRCT is a rare and distinct small round cell tumor of
childhood
It has a marked predilection for young adult males and usually
presents with diffuse abdominal or pelvic peritoneal tumor
masses with minimal organ involvement
Despite intensive multimodal therapy, the prognosis is still
poor and there is no general agreement for the treatment of
this malign disease
Chang F, 2006
Akhtar M, Iqbal A, Mourad W, Ali A, 1999
INTRODUCTION...
The purpose of this case report is to present a
rare case of DSRCT in a 6 year old boy
CASE REPORT
5
N, 6-year-old boy Emergency Room Saiful Anwar General
Hospital
Complaints :
Pallor
High fever
A mass in his forehead
Headaches
Decreasing body weight
CASE REPORT...
Physical examinations :
Pale conjunctiva
Strabismus
A mass in the frontal region
with approximately 6 cm,
hard consistency, firm, no
pain and no signs of
inflamation
Hepatospleenomegali
Undernourished


SGPT : 55 U/L
SGOT : 48 U/L
Na : 127 mmol/l
K : 4.46 mmol/l
Cl : 95 mmol/l
SI : 67
TIBC :184

Hb : 7.6 g/dl
Lekosit : 4000/mm3
Tromb. : 111.000/mm3
Hct : 22.7 %
Albumin : 3.12 g/dl
CRP : 27.36 mg/dL

Initial laboratory findings
PH : 7.537
PCO2 : 22.4
PO2 : 112.9
HCO3 : 23.1
O2 sat : 98.6
BE : 1.7

CASE REPORT...








Lateral skull X-ray revealed a soft tissue mass in the frontal regio
CASE REPORT...
Initial diagnosis :
Soft tissue tumor : Rhabdomyosarcoma DD
Fibrosarcoma
Liposarcoma
Hypochromic Microcytic anemia due to chronic infection
Undernourished
WDx : Head CT scan, FNAB
CASE REPORT...








Head CT scan found a suspected multiple malignant bone primary
tumor, both sides of the mid line extending to intracranial on the right
frontal lobe accompanied by proptosis of right bulbus occuli and
cerebral edema
CASE REPORT...
FNAB I : Small cell with dense distribution, round nucleus,
uniform, hyperchromatic, thin cytoplasm and rosette like cells.
Malignant small round cell tumor caused by blastoma
differential diagnosed with embryonic rhabdomyosarcoma or
PNET

Day 13
FNAB II : Dense fibrotic tissue with group of cohesive small
round malignant cell, hyperchromatic nucleus
Desmoplastic Small Round cell Tumor
CASE REPORT...
Diagnosis Desmoplastic Small Round Cell Tumor
Day 14 Chemotherapy:
Vincristin 1 mg/m
2
iv day 1 and 5
Cyclophosphamide 500 mg/m
2
iv day 1
Doxorubicyn 40 mg/m
2
/day at day 1 5
CASE REPORT...
Day 20 :
Profuse vomiting
GCS 345
Complete blood count : Hb 7.8 g/dl, hematocrites 22.1%, total
leucocyte count 1600 /ul, platelet count 38.000 /ul and absolute
neutrofil count (ANC) was 800
Electrolite serum level : Na : 116 meq/l, potassium 3.65 meq/l,
chloride 93 mol/l, calsium 8 mg/dL
Diagnosis :
Profuse vomiting some dehydration and decreased conciousness
due to a metastatic process or encephalopathy
CASE REPORT...
Planned treatment :
Rehydration
Correct the sodium level
Ondansetron 3x4 mg
Consult The Ophtalmology Department Papil edema
Consult The Pediatric Neurology Department :
- Head CT scan
- Dexamethasone 3x2 mg
CASE REPORT...
Day 30 The patient health had improved.
The patient was discharged and the patients advise to
come for routine check-ups at the outpatient clinic for
chemotherapy
DISCUSSION
Lumps and bumps on the head are common complaints in
children
Differential diagnosis is broad and radiological evaluation is
often requested in a wide spectrum of congenital lesions and
acquired lesions

In this case, patient complaining of mass in his forehead, a
skull X-ray and head CT scan was performed to confirm
the diagnosis
Morron F, Morris M, Jones J, Hunter J, 2011
DISCUSSION...
The skull X-ray found soft tissue tumor
Initial diagnosis :
Soft tissue tumor : Rhabdomyosarcoma DD
Fibrosarcoma
Liposarcoma

DISCUSSION...
Rhabdomyosarcoma
The most common soft tissue tumor in children
Often cause a noticeable lump on childs body
Frequently found in children under the age of 15 in the
head and neck region
In this case :
The skull X-ray indicating soft tissue tumor
There was a lump or mass in the forehead
The patient was a 6-year-old boy
DISCUSSION...
Liposarcoma :
Account for 5% all soft tissue sarcoma in childhood
The major site was lower extremities, retroperitoneal and
shoulder
Rarely occured in children less than 8 year old

Fibrosarcoma :
Infantile form in children < 1 year old
Most common in arm and legs
DISCUSSION...
The Head CT scan found a suspected malignant primary
tumor of the bone, multiple at frontal bone extending to
intracranial on the right frontal lobe
FNAB I : Malignant small round cell tumor caused by blastoma
differential diagnosed with embryonic rhabdomyosarcoma or
PNET

DISCUSSION...
Malignant round cell tumors (MRCT) in children are a group of
neoplasms characterized by small, round, relatively
undifferentiated cells. Because of these features,
morphological diagnosis may be difficult
Several studies have demonstrated that the diagnosis of
MRCT can be made effectively by FNAB


In this case, the diagnosis was confirmed using FNAB result
Cohn S, 1999
DISCUSSION...
DSRCT is a highly aggressive tumor that predominantly
affects young males
It tend to spread along the peritoneum and mesothelial-lined
Other body sites including paratesticular region, pleural
serosa, posterior cranial fossa, soft tissues and bone, ovary,
parotid gland, and lungs


In this case, the patient was a 6-year-old boy with a solid
mass in the frontal region, the second FNAB result found a
DSRCT
Mihok N, Cha I, 2001
Saab R, Khouri JD, Davidoff AM, Navid F, 2007
DISCUSSION...
DSRCT arranged as thin trabeculae, small to medium-
sized, round to oval hyperchromatic nuclei and rosette like
structures. arranged in sheets and clusters surrounded by
dense collagenous stroma

In this case :
First FNAB Relatively small cells with dense distribution,
round nucleus, uniform, hyperchromatic, thin cytoplasm and
rosette like cell
Second FNAB Dense fibrotic tissue with groups of
cohesive malignant cells, small round hyperchromatic nucleus
DISCUSSION...













Figure 4. A. Characteristic bands of collagenase material separating nests of small round
blue cells. B. A higher power view showing hyperchromatic nuclei, condensed chromatin,
and mitotic figures. C. Stains diffusely with CD99 (brown material). D. Immunohistochemistry
with anti-desmin showing characteristic punctate staining
DISCUSSION...
Anamnesis
Physical
Examination
Skull X-ray
CT scan
FNAB
Small round cell carcinoma
Ewings sarcoma/ PNET
Embryonic rhabdomyosarcoma
Desmoplastic Small
Round Cell Tumor
Histologicaly, DSRCT must be distinguished from other small round cell
tumors
DISCUSSION...

Occurs primarily in the bone or
soft tissue.
Often found in the long bones
and can involve soft tissue
arround the tumor.
2-3% childhood cancers
The second most common
malignant bone tumor in
children
Age 10-20
Pain arround the site of tumor


EWINGS SARCOMA
In this case :
Head CT showing a primarily
bone tumor
Found at the frontal bone
6-year-old boy
No pain


DISCUSSION...
The most common type of
rhabdomyosarcoma
frequently found in children <
15 year old
Predilection sites are in the
head, neck region and in the
genitourinary tract.
Histological featured of this
tumor is its zone of loose and
dense celullarity and exhibit all
celullar phase of myogenesis
Embryonal
Rhabdomyosarcoma
In this case :
6-year old boy
Mass at the forehead area
and at mandibula
Histological featured
Dense fibrotic tissue with
groups of cohesive malignant
cells, small round
hyperchromatic nucleus

DISCUSSION...
DSRCT is associated with a unique chromosomal
translocation (t11;22) (p13:q12) resulting in a EWS/WT1
transcript that is a sign of this tumor.
This transcript codes for a protein that acts as a
transcriptional activator that fails to suppress tumor growth
Kupeli S, Caglar k, Birgen D, Sungur A, Varan A, 2010
Chon S, 1999
Zhang P, Goldblum J, Pawel B et al, 2003
DISCUSSION...
A multi-modality approach of high dose chemotherapy,
aggressive surgical resection, radiation, and stem cell
rescue improves survival for some patients
Consistent use of multimodality therapy has dramatically
improved the outcome

In this case, surgery and radiotherapy were not used
because of the tumor location.
DISCUSSION...
Standard chemotherapy agent for DSRCT are
cyclophosphamide, doxorubicine, vincristine and
dactinomycin

In this case, the patient had a chemotherapy using
vincristin 1 mg/m
2
iv day 1 and 5, cyclophosphamide 500
mg/m
2
iv day 1, and doxorubicyn 40 mg/m
2
/day at day 1 5
with interval of 3-4 weeks
DISCUSSION...
Common side effects of chemotherapy:
- Depression of the immune system
- Fatigue
- Tendency to bleed easily
- Gastrointestinal distress
- Hair loss
- Cardiotoxicity
- Hepatotoxicity
- Nephrotoxicity
- Ototoxicity
- Encephalopathy
DISCUSSION...
In this case, few days after chemotherapy, the patient had a
leucopenia, anemia and thrombocytopenia and also had
vomiting.
After the first chemotherapy, the patient had decreased
conciousness which may have been due to hyponatremia
encephalopathy from vomiting induced chemotherapy or brain
metastatic process.
After we corrected the hyponatremia, the patient was became
fully concious.

DISCUSSION...
The prognosis for DSRCT remains poor.
5-year survival rate approximately 15%.
It can metastasize through lymph nodes or the blood stream

In this case the prognosis for this pastient is poor due to the
type of his cancer and the liver metastatic process
SUMMARY
A case report of 6 year old boy with DSRCT has been
reported and the diagnosis is based on the result of a head
CT scan and FNAB
The development of standard methods for its clinical
diagnosis and management has been difficult
In this case, the patient had a chemotherapy series using
cyclophosphmide, doxorubycin, and vincristine
The prognosis for DSRCT remains poor. The 5-year survival
rate of DRSCT is only approximately 15%.


THANK YOU
Mnemonic to remember early warning sign in pediatric cancer:
C ontinued/ unexplain weight loss
H eadache and vomiting
I ncreased swelling/ persistent pain in bones or joints
L ump or mass
D evelopment of a whitish apperence in the eye
R eccurent fever not cause by infection
E xcessive bruising or bleeding
N oticable paleness or prolonged tiredness
Different type of soft tissue sarcomas :
Fibrous tissue tumors
Fat tissue tumors
Smooth muscle tumors
Peripheral nervous system tumors
Bone and cartilage tumors
Blood and lymph vessel tumors
Tumor of unknown origin