Original Article

Fine-Needle Aspiration in Desmoplastic Small Round Cell Tumor A Report of 10 New Tumors in 8 Patients With Clinicopathological and Molecular Correlations With Review of the Literature  ro ^ me Couturier, MD1; Re  al Lagace  , MD1; Jerzy Klijanienko, MD, PhD1; Pierre Colin, MD1; Je 1 1 1 1 € lle Pierron, PhD ; Marick Lae  , MD ; Alice Klijanienko, MD ; Herve  Brisse, MD2;  neaux, MD ; Gae Paul Fre 3 1,4 Daniel Orbach, MD ; and Stamatios Theocharis, MD, PhD

BACKGROUND: Desmoplastic small round cell tumor (DSRCT) is a rare round cell sarcoma entity characterized by a specific t(11;22)(p13;q12) translocation, usually intra-abdominal localization and an aggressive clinical outcome. To date, only 35 DSRCT cases diagnosed by fine-needle aspiration have been described. METHODS: This study reports the cytological diagnosis of DSRCT. Ten tumors from 8 patients were sampled for diagnosis and analyzed to search the characteristic translocation using fluorescence in situ hybridization or reverse transcription polymerase chain reaction methods. RESULTS: Smears were always hypercellular and consisted of nonspecific round cell sarcoma. Nuclei were polymorphic round, kidney-, or heart-shaped. Nuclear molding was usually present. Paranuclear cytoplasmic densities were obvious and noted in 7 cases. Cytonuclear atypia, mitotic figures, numerous crushed nuclei, and apoptosis were frequently seen. Purple-stained stroma was present in 8 cases (ranging from few connective tissue fragments to large hyalinized deposits). Molecular studies based on cytological aspirates were performed in 8 patients. The presence of the fusion gene EWSR1WT 1 transcript was identified in all, which confirmed the diagnosis of DSRCT. CONCLUSIONS: Smears showing poorly differentiated round cells associated with cytoplasmic densities and connective stoma, in a specific clinical context, young adult age, intra-abdominal localization, suggestive immunocytochemical profile, and a unique cytogenetic abnormality C 2014 are highly specific and allow an accurate diagnosis of DSRCT. Cancer (Cancer Cytopathol) 2014;122:386-93. V

American Cancer Society. KEY WORDS: desmoplastic small round cell tumor; fine-needle aspiration; t(11;22)(p13;q12); EWR1-WT1 gene fusion transcript; round cell sarcoma.

INTRODUCTION Desmoplastic small round cell tumor (DSRCT) is a rare high-grade sarcoma of unknown histogenesis. DSRCT affects predominantly young males (15-35 years of age), although it has been also reported in patients as young as 5 years and as old as 70 years.1,2 The abdominal cavity and/or the pelvic peritoneum are the most frequent sites of tumor development, although various other anatomical sites including the salivary glands, thoracic region, and central nervous system have been reported. The classical evolution is marked with recurrence and/or metastatic spread. Death occurs within 2 years in the majority of patients. The diagnosis is based on histological morphology showing nests and groups of small- to medium-sized cells embedded in a prominent hypervascularized desmoplastic stroma. Immunoreactivity for cytokeratin (CK) Corresponding author: Jerzy Klijanienko, MD, PhD, MIAC, Institut Curie, 26 rue d’Ulm, 75248 Paris cedex 05, France; Fax: (011) 33 153 104010; [email protected] 1 Department of Tumor Biology, Institut Curie, Paris, France; 2Department of Radiology, Institut Curie, Paris, France; 3Department of Pediatric Oncology, Institut Curie, Paris, France; 4First Department of Pathology, University of Athens, Medical School, Athens, Greece

Received: January 12, 2014; Revised: February 10, 2014; Accepted: February 11, 2014 Published online March 17, 2014 in Wiley Online Library (wileyonlinelibrary.com) DOI: 10.1002/cncy.21415, wileyonlinelibrary.com


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FNA in Desmoplastic Small Round Cell Tumor/Klijanienko et al

Table 1. Clinicopathologic Characteristics of Our Patients Patient No.

Age (y), Sex

Nature, FNA Site


Primary, Abdominal



Metastasis, Supraclavicular Recurrence, Abdominal



Primary, Abdominal





FNA Diagnosis

EWSR1-WT1 Transcript 1, (Molecular Technique, Material Used)

DSRCT or Ewing sarcoma DSRCT

Not studied


Yes, (FISH, cytology of primary) Yes, (FISH, cytology of primary)

Primary, Abdominal

RCS, probably RMS RCS


Metastasis, Pancreatic


5b 6


Metastasis, Costal Metastasis, Lung




Primary, Pelvis




Primary, Abdominal



Yes, (RT-PCR, cytology of primary)

Yes, (FISH, cytology of primary) Yes, (FISH and RT-PCR, cytology of metastasis) Not studied Yes, (FISH and RT-PCR, cytology of metastasis) Yes, (FISH and RT-PCR, cytology of primary) Yes, (RT-PCR, cytology of primary)

IHC Used on Histological Biopsy From the Primary Site

Follow-Up (mo), Status

EMA1, Ck1, Des1, Vim1, CD99–

20, DOD

Ck1, ChromoA1, Des 1, CD99–b Des1, Ck–, WT11, CD99–, ChromoA–

40, DOD

Des1, Ck–, CD99–, MyoD1–, CD45– Des1, Ck–, CD99–, Myogenin, CD45–

14, DOD

Ck1, Des1, ChromoA1, EMA1, CD991, CD45–, WT11 INI11, Des1, Ck1, WT11, myogenin–, ChromoA–, CD99– INI11, Des1, Ck1, myogenin–, ChromoA–, CD99–

26, DOD

14, DOD

9, DOD

34, ADF

4, AWD

Abbreviations: ADF, alive disease-free; ChromoA; chromogranin A; Ck, cytokeratin; Des, desmin; DOD, dead of disease; DSRCT, desmoplastic small round cell sarcoma; EMA, epithelial membrane antigen; FISH, fluorescent in situ hybridization; FNA, fine-needle aspiration; IHC, immunohistochemistry; F, female; M, male; NSE, neuron-specific enolase; RCS, round cell sarcoma; RMS, rhabdomyosarcoma; RT-PCR, reverse transcription polymerase chain reaction; WT1; Wilms Tumor 1. a This case was previously published by us.13 b Immunocytochemistry performed on cytology smear.

with a dot-like pattern, WT-1 (to the carboxy terminus) and desmin are the most useful diagnostic markers in contrast to other small cell sarcomas.1 DSRCT is also characterized by a unique cytogenetic abnormality t(11;22)(p13;q12) translocation; hence, it constitutes a distinct nosological and clinicopathological entity.2,3 This abnormality may be used to confirm a diagnosis. Cytological diagnostic criteria are rarely shown in the literature, and to our knowledge, only 35 cases of fineneedle aspiration (FNA) biopsy in DSRCT have been published,4–25 including 1 case by our group.14 The purpose of this study is to describe the microscopic patterns and cytological criteria as well as to describe our experience in diagnosing DSRCT.

MATERIALS AND METHODS After retrieval of cytopathology archives between 2000 and December 2013, we have identified 8 patients affected by DSRCT and who were diagnosed using FNA technique. All cytology smears, corresponding histology Cancer Cytopathology

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sections and clinical charts were reviewed. Our study group consisted of 5 male and 5 female patients, aged from 8 to 37 years, with a mean of 13.6 years. Cytological material consisted of 10 samples. Five FNAs in 5 patients were performed on a primary intraabdominal/pelvic site, 1 on intra-abdominal recurrence (from 1 patient), and 4 (from 3 patients) on metastatic site (pancreas, lung, supraclavicular lymph node, and rib) (Table 1). Histological material was sampled on a primary site in all but 1 case (lung metastasis). All cytological samples were ultrasound-guided under general anesthesia in concordance with ethical procedures used at our hospital. The use of general anesthesia allowed comfortable sampling in a sedated patient, who was usually young in age. Cytology samples were smeared onto 2 or 3 slides and were stained according to MayGrunwald-Giemsa (MGG), and occasionally Papanicolaou, techniques. Adequate amount of cellular material was also resuspended in EDTA and designated for molecular studies. After cytology aspiration, a core-needle biopsy was also performed. Histological specimens were formalin-fixed, paraffin-embedded, and stained using 387

Original Article

Figure 1. Hypercellular smear with nonspecific dispersed or cohesive malignant round cells. Note the nuclear molding. May Grunwald Giemsa 3 5. Figure 3. Paranuclear densities similar to apoptotic bodies. Cells are atypical and cohesive. May Grunwald Giemsa 3 200. In inset: Desmin positive cells.


Figure 2. Ploymorphic, round, kidney- or heart-shaped nuclei. May Grunwald Giemsa 3 20.

hematoxylin-eosin-safran. Immunohistochemistry was performed on histology sections using an appropriate panel of antibodies directed to small round cell sarcomas (Table 1). This panel included antibodies against EMA, cytokeratins (AE1/AE3 or KL1, depending on the period), desmin, WT-1 (to the carboxy terminus), CD99, CD45, myogenin and chromogranin A. In total, 8 cytological samples were analyzed to search for the characteristic t(11;22)(p13;q12) cytogenetic translocation involving the EWSR1-WT1 gene on 22q12 and the Wilms tumor gene WT1 on 11p13. Using molecular methods (reverse transcription polymerase chain reaction [RTPCR] and fluorescence in situ hybridization [FISH]) were described previously by us.2 In all cases, FNA material was rinsed into Vacutainer tubes containing 3 mL Hank’s EDTA solution. Tubes were immediately transported to the genetics laboratory for a cell count. If the sample contained fewer than 5 million cells, the cell suspension was used for RT-PCR analysis, as previously described.2,14,23,26,27 388

Original cytological diagnoses were: DSRCT in 7 tumors (3 primary, 1 recurrence, and 3 metastases), and “round cell sarcoma” in the 3 remaining tumors (2 primary tumors and 1 metastasis) (Table 1). Smears were always hypercellular and consisted of round and oval cells in all cases (Fig. 1). Cells were smallor medium-sized, and isolated or in 3-dimensional clusters. Nuclei were polymorphic, usually round, kidney-, or heart-shaped (Fig. 2). Nuclei contained granular chromatin, but nucleoli were seen in only 1 case. Nuclear molding was usually present. Paranuclear densities were present and observed in 7 cases (Fig. 3). Densities were dark, welldelineated, and similar to apoptotic bodies. They stained positively for keratin (AE1/AE3 or KL1) and desmin (immunocytochemistry was performed on smears in case #2 according to a previously reported27 technique). Cytonuclear atypia, mitotic figures, and apoptotic bodies were frequently seen, as well as numerous crushed nuclei. Scant and gray cytoplasm was present in the majority of cells. Some cells were devoid of cytoplasm and some were binucleated. Extensive necrosis was noted in 2 cases. Purple-stained stroma (on MGG stain) was present in 8 cases varying from few fragments to large hyalinized deposits (Fig. 4). There were no rhabdomyoblastic-like cells or neuropil. There was no marked pleomorphism or epithelioid features. Rare rosettes were noted in 1 case only. The elevated rate of tumor cells allowed preparing representative cell blocks in 3 cases, but which were not used for immunohistochemical purposes. Cancer Cytopathology

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FNA in Desmoplastic Small Round Cell Tumor/Klijanienko et al

Figure 4. Purple-stained stroma is frequently seen and suggestive for DSRCT. Compare with Figure 5. May Grunwald Giemsa 3 10.

Figure 5. Biopsy of DSRCT. Proliferation of round cells embedded in a dense desmoplastic stroma which is well seen on low-power magnification. Hematoxylin-eosin-safran 3 10.

Histologic analysis confirmed the diagnosis of DSRCT in all cases. It consisted of proliferation of smallto medium-sized round cells embedded in a dense desmoplastic stroma (Fig. 5). Tumor cells were similar to other round cell sarcomas, but paranuclear inclusions were usually found. The stroma consisted of fibroblasts and myofibroblasts. The immunohistochemical profile was polyphenotypic, displaying a mixture of epithelial, mesenchymal, and neural markers. Keratin and desmin were strongly expressed with a dot-like paranuclear pattern (Fig. 5). Molecular studies verified the presence of the fusion gene EWSR1-WT1 transcript in 8 patients, which confirmed the diagnosis of DSRCT (Fig. 6). Patients were treated according the updated oncology chemotherapy protocols. To date (January 2014), all but 2 patients died in the period ranging between 3 and 40 months after diagnosis. One patient is alive and disease-free 34 months after initial diagnosis, and 1 represents a recent case (with 4 months follow-up period).

ures,5–7,10,16,20 and necrosis7,21 were frequent. Paranuclear aggregates of intermediate filaments were occasionally observed.6,14 Polymorphous or giant multinucleated cells were also reported.8 Connective tissue fragments, which are characteristic on histology sections, were detected in only some smears.4,6,10,11,16,19,20,24,25 Smearing artifacts (similar to small-cell carcinoma) were also reported.22 In the few cases which were studied by electron microscopy, it was demonstrated that the cells were joined by small junctions and contained paranuclear aggregates of intermediate filaments.6 DSRCT should be differentiated from rhabdomyosarcoma, Ewing sarcoma/PNET (primitive neuroectodermal tumor), neuroblastoma, and synovial sarcoma. The presence of rhabdomyoblasts, binucleated cells, and spindle-shaped cells are strongly in favor of rhabdomyosarcoma. However, positive muscular markers (desmin and myogenin) are of little help, because they are also positive in DSRCT. Moreover, alveolar rhabdomyosarcoma exhibits PAX3 or PAX7/FOXO1 aberrations.28 Ewing sarcoma/PNET is composed of round, poorly differentiated cells with a double cell population: larger cells with clarified cytoplasm and small, darker cells. Frequently, cellular clusters and rosettes are present. Characteristic morphology, CD99 expression, and specific chromosomal aberration help in distinguishing Ewing sarcoma/PNET from DSRCT.29 Neuroblastoma is pediatric tumor and consists of neuroblasts, neuropil, and rosettes. Moreover, some neuroblastomas may show a necrotic background and calcifications.30,31 Finally, immunohistochemistry may help in the differential diagnosis with neuroblastoma, which has no immunoreactivity for cytokeratins.

DISCUSSION Cytologically, DSRCT belongs to the group of round cell sarcomas. Thirty-five cytological examples of DSRCT (excluding cases of pleural effusions) were published in the cytology literature4–25 including 1 case described by us14 (Table 2). Collective analysis shows that 24 samples were accurately diagnosed as round cell sarcoma or undifferentiated malignancy. Smears in DSRCT were not specific and hypercellular and showed isolated or clustered malignant round cells.4–25 Cytonuclear atypia was mild to moderate.4,9,13 Nuclear molding,5,13,16,19 mitotic figCancer Cytopathology

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Original Article

Figure 6. The t(11;22)(p13;q12) translocation leading to oncogenic EWS-WT1 chimeric transcript. The t(11;22)(p13;q12) at DNA level: (A) Cytogenetic approach using karyotype. (B) Schematic representation of Vysis EWSR1 break apart probe used in FISH. (C) Visualization of the disruption of EWSR1 locus by FISH on metaphase spread (C1) or on interphase nuclei (C2). The t(11;22)(p13;q12) at RNA level. (D) Schematic representation of the two natives RNA leading to the chimeric transcript. TAD: Transactivation Domain RNA BD: RNA Binding Domain. (E) TaqMan 7500 Assay. Negative baseline appears in red. Two positive cases for EWS-WT1 transcripts are shown (arrows) Ct: Cycle threshold.

Smears of synovial sarcoma may contain round and oval cells. Some of them may show cytokeratin immunoreactivity. Once again, molecular studies may show a characteristic SYT/SSX1 transcript.32 The nonspecific 390

morphology in DSRCT may be a source of diagnostic errors and requires the use of ancillary diagnostic methods, such as immunocytochemistry and cytogenetic analyses. Cancer Cytopathology

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FNA in Desmoplastic Small Round Cell Tumor/Klijanienko et al

Table 2. Previously Published Cases of FNA in DSRCT (Reports of Effusions Are Excluded) Ref

Case No.

Sex/Age (y)

5 6 7 8 9 10

1 2 3 4 5 6 7 8 9 10 11

M,20 M,27 M,17 M,22 M,23 M,12 M,15 M,10 M,17 M,34 F,22

Primary, Abdominal Metastasis, Neck Metastasis, Liver Metastasis, Liver Metastasis, Neck Primary, Abdominal Primary, Abdominal Primary, Abdominal Recurrent, Abdominal Metastasis, Neck Primary, Abdominal

11 12

12 13

F,10 M,23

Primary, Abdominal Metastatic, Liver

M,16 M,18 M,33 M,20 M,20 F,22 M,20 M,18 M,22

Metastatic, Neck Primary and metastatic, Liver Metastatic, Abdominal Metastatic, Abdominal Metastatic, Inguinal Metastatic, Inguinal Primary and metastatic, Liver Metastatic, Inguinal Primary and metastatic, Abdominal Primary and Metastatic, Liver ?, Abdominal ?, Abdominal ?, Ovary ?, Ovary ?, Abdominal ?, Primary ? ? ? ? Primary Primary

3 4

13 14 15

16 17 18


20 21 22 23 24

See our case #1 14 15 16 17 18 19 20 21 22 23


24 25 26 27 28 29 30 31 32 33 34 35

Sex?, Mean age 25.4

M,59 ? ? ? ? M,41 M,29

Nature, FNA Site


ICC Ck1, Ck1, Ck1, Ck1, Ck1,

EWSR1-WT1 Transcript 1

Des1, NSE1 Des1 Des1 Des1 Des1

Ck1, Des1, NSE1 Ck1, Des1, NSE1, Vim1 Ck1, Des1, NSE1, Vim1 Des1, Ck– Ck1, Des1, Vim1

Ck1, Des1, Vim1

Ck1, Des1, Vim1, NSE– WT1 Ck1, Des1, EMA1, WT11

Yes (PCR)


Ck1, Des1, EMA1, WT11

Yes (PCR)


Ck1, Des1 Ck1, Des1, CD99– Ck1, Des1, CD991, EMA1 Ck1, Des1, NSE, WT1– Ck–, Des–, NSE–, Vim, CD99– Ck1, CD991, Vim1, NSE1, Des– Ck–, Vim–, CD99–, NSE–, Des– Ck1, Vim1, CD991, NSE1, Des– Ck1, Des1, EMA1, WT1, CD561 Ck1, Vim1, Des1, CD99–, WT1–

Yes (FISH on cell block)

Yes (RT-PCR, on cytology) Yes (RT-PCR, on cytology) Yes, (FISH on cytology) Yes (FISH on cytology)

Abbreviations: Ck, cytokeratin; Des, desmin; DRSCT, desmoplastic small round cell tumor; EMA; epithelial membrane antigen F, female; FNA, fine-needle aspiration; ICC, immunocytochemistry; M, male; NSE, neuron-specific enolase; RCS, round cell sarcoma; Ref, reference; RMS, rhabdomyosarcoma; undiff, undifferentiated; Vim, vimentin; WT1, Wilms Tumor 1.

Because of usual hypercellularity, aspirates may be successfully used for ancillary techniques. It seems that the most useful immunohistochemical marker is desmin, which is positive in perinuclear dots in more than 90% of cases.1 In previous reports, many cases were studied by immunocytochemistry, through use of a large panel of antibodies. Characteristic desmin perinuclear dot positivity was evidenced by many authors.4,5,8,9,11–13,15,17–25 Moreover, antibodies directed against a panel of cytokeratins, EMA, CD99, myogenin, Wilms Tumor 1 (WT1 to the carboxy terminus) or chromogranin A were used with varying success (Table 2). We advocate use of an initial panel of antibodies including CK, CD99, desmin, myogenin, and WT1. Cancer Cytopathology

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FNA material is also excellent for cytogenetic techniques. The first case studied by RT-PCR using cytological material was reported by us.14 Similarly, Dave et al19 used the RT-PCR method in evaluating FNA material to detect t(11;22)(p13;q12) in 2 cases.23 Moreover, Gautam et al23 reported the combination of cytologic morphology with RT-PCR, and immunocytochemistry was proposed in the diagnosis of round cell tumors. Waugh et al21 studied a case of DSRCT using interphase FISH on cell block material using a break-apart probe for the EWSR1 gene region of chromosome 22q12. In addition, FISH was successfully used on cytological material by Pang et al24 and Lec¸a et al.25 Approximately 70% of cells demonstrated rearrangement involving the EWSR1 gene region. 391

Original Article

In this report, we show 8 additional cases that were studied for t(11;22)(p13;q12). Among all cases, 6 were studied cytogenetically using FNA material and 1 was studied using histological biopsy. RT-PCR or FISH techniques were used in function of sample recruitment during the last 10 years. Interestingly, we were unable to demonstrate a specific EWSR1-WT1 transcript in 1 case (case #6). Other specific transcripts directed against alveolar rhabdomyosarcoma, Ewing’s sarcoma/PNET, and synovial sarcoma were also negative in this case. The possibility of variant translocation or lack of EWSR1-WT1 fusion in this case should also be considered. This tumor was collegially classified as DSRCT because of typical clinical presentation, fast fatal evolution, concordant histological morphology, desmin dot paranuclear immunoreactivity, and FNA patterns. Rare such instances of DSRCT without EWSR1-WT1 transcript have been already reported.3 Conclusions

Fine-needle aspirates are not specific in DSRCT and show a pattern of round cell sarcoma where the cells may neighbor connective stromal fragments. A general consensus has been reached in the literature that the combination of poorly differentiated round cell morphology, cytoplasmic paranuclear densities, presence of connective fragments, specific clinical context, young adult/pediatric age, intra-abdominal localization, suggestive immunohistochemical profile including positivity for keratin, desmin, and WT1, and unique cytogenetic abnormality are highly specific for DSRCT and allow an accurate diagnosis. On the other hand, FNA material is of excellent quality and was always satisfactory for specific molecular techniques.












15. 16. 17.

FUNDING SOURCES No specific funding was disclosed.


CONFLICT OF INTEREST DISCLOSURES The authors made no disclosures.





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Fine-needle aspiration in desmoplastic small round cell tumor: a report of 10 new tumors in 8 patients with clinicopathological and molecular correlations with review of the literature.

Desmoplastic small round cell tumor (DSRCT) is a rare round cell sarcoma entity characterized by a specific t(11;22)(p13;q12) translocation, usually i...
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