Intra-abdominal desmoplastic small round cell tumors: CT findings and clinicopathological correlations in 13 cases

doi:10.1016/j.ejrad.2004.09.002

European Journal of Radiology

Volume 54, Issue 3, June 2005, Pages 438-442

https://doi.org/10.1016/j.ejrad.2004.09.002 Get rights and content

Abstract

Purpose:

We report computed tomography (CT) findings in 13 patients with a primary abdominal desmoplastic small round cell tumor.

Materials and methods:

13 cases (12 men, 1 woman, mean age = 24.8 years) were found in our hospital database between 1991 and 2003. Clinical, CT and histopathological features were studied retrospectively.

Results:

Peritoneal involvement was the most common feature. In 10 cases, several lobulated peritoneal soft tissue masses (with a mean of four masses per patient) were seen. Two patients had diffused irregular peritoneal carcinomatosis without any distinct peritoneal masses. One patient had a solitary mass in the pelvic space. The main sites of peritoneal involvement were the pelvic space (n = 7), omentum (n = 5), retroperitoneal space (n = 4), small bowel mesentery (n = 3), paracolic gutter (n = 2 on the right and n = 1 on the left), transverse colon mesentery (n = 1), peri-splenic space (n = 1), peri-hepatic space (n = 1). The soft tissue masses were often bulky (mean 6 cm, range 1–28 cm), lobulated and heterogeneous with hypodense areas (in 73% of cases). In six cases, moderate ascites was seen. In one case of pelvic involvement, unilateral hydronephrosis was seen. Adenopathies were present in seven cases at the time of the diagnosis (at intraperitoneal, retroperitoneal and pelvic sites in six patients and in the groin in one patient). Five patients had liver metastases (four lesions per case excepted one patient with 30 metastases). Associated thoracic metastases were seen in three patients. The diagnosis was confirmed with four CT-guided percutaneous biopsies.

Conclusion:

Although CT features are nonspecific, the diagnosis of desmoplastic small round cell tumor may be suspected in young men with multiple bulky heterogeneous peritoneal soft tissue masses. Imaging is useful for staging and also to guide biopsies.

Introduction

Desmoplastic small round cell tumor is a recently described rare malignant neoplasm. It is a member of the family of lesions classified as small round cell tumors (lymphoma, neuroblastoma, rhabdomyosarcoma, Ewing sarcoma, neurectodermic tumors) and it is characterized by a distinct immunohistochemical pattern and a recurrent, specific, chromosomal translocation.

This tumor has a predilection for involvement of the peritoneum mainly in young men. Other sites are rarely affected. It is an aggressive tumor associated with poor survival. Treatment consists in a combination of surgery, chemotherapy and radiotherapy.

CT features are peritoneal involvement with several bulky heterogeneous and necrotic soft tissue masses without any obvious organ base, which are sometimes associated with ascites, adenopathies and liver metastases.

Section snippets

Materials and methods

Thirteen patients (12 men, 1 woman) with desmoplastic small round cell tumor and primary abdominal involvement were found in our hospital database between 1991 and 2003. Clinical, CT imaging and histological features were studied retrospectively. Initial CT studies were analyzed in all patients before treatment.

The technical performance was variable with conventional or spiral CT; slice thickness varied from 5 to 10 mm but all CT studies were performed after oral administration of contrast

Clinical findings

There were 12 men and 1 woman with a mean age of 24.8 years (range 12–34 years) at the time of the diagnosis (Fig. 1, Fig. 2).

The initial clinical manifestations were abdominal pain (n = 6), a palpable abdominal mass or abdominal distension (n = 6), constipation (n = 3), an inguinal mass (n = 1), a urinary disorder (n = 1), and a chronic cough associated with pulmonary carcinomatous lymphangitis (n = 1).

Follow-up was dismal with 10 deaths (mean duration of survival was 2.8 years (1–5 years); only three

Discussion

Desmoplastic small round cell tumor is a rare malignant peritoneal neoplasm. Less than 200 cases have been described since 1989 when it was first described by Gerald and Rosai [1].

It occurs typically in adolescents and young adult males (5 men for 1 woman in literature) and the mean age at diagnosis is 22 years (3–68 years) [2], [3], [4].

Desmoplastic small round cell tumor mainly involves the peritoneal cavity but other serous membranes have been described: pleura [5], para-testicular serosa [6]

Conclusion

Although CT features are nonspecific, the diagnosis of desmoplastic small round cell tumor may be suspected in young males with multiple bulky heterogeneous peritoneal soft tissue masses. Imaging is useful for staging and also to guide percutaneous biopsy.

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During clinical routine, imaging will reveal the diagnosis of an tumor of uncertain entity. Differential diagnoses with morphological similarity include rhabdomyosarcoma, undifferentiated liposarcoma, peritoneal leiomyosarcoma, pseudomyxoma, mesothelioma, intra-abdominal desmoid tumors, germ cell tumors, primitive neuroectodermal tumors (PNETs) neuroblastoma, lymphoma, soft tissue Ewing sarcoma, benign inflammatory processes, and others [12–14]. Subsequently, to better characterize tumor entity, there are various methods to obtain tissue samples for histopathological analysis.
Desmoplastic Small Round Cell Tumors (DSRCTs) are an entity of rare, aggressive soft tissue sarcomas described by Gerald and Rosai in 1989. It predominantly affects male adolescents and young adults, with a peak incidence between an age of 20 and 30 years. Typically, DSRCT demonstrate as multiple small tumor nodules within the abdominal cave, retroperitoneum and pelvis. In more than 50% of the cases, the neoplasm presents metastatic at the timepoint of diagnosis.
Histologically, DSRCTs have a characteristic morphology with sharply demarcated islands of uniform small round cells in abundant desmoplastic stroma organized in loose extracellular matrix. Immunohistochemistry reveals a polyphenotypic differentiation with co-expression of epithelial, myogenic, mesenchymal and neural markers. The morphology is highly variable and can hinder diagnosis. The most consistent molecular characteristic of DSRCT is the reciprocal t(11;22)(p13q12) translocation. This mutation leads to a formation of the EWSR1-WT1 fusion oncogene, which encodes for a chimeric protein with transcriptional regulatory activity and is regarded as driving source of the disease.
To date, there is no standardized concept for clinical management, staging and treatment. Patients receive an aggressive multimodal therapeutic approach consisting of chemotherapy, radical surgical procedures, hyperthermic, intraperitoneal chemotherapy (HIPEC) and radiation. New targeted therapies are used in experimental settings as salvage therapy. So far, none of these therapies showed significant long-term success.
This review gives an overview of diagnostic difficulties and pitfalls, discusses therapeutic strategies and highlights options for clinical management.
Peritoneal Malignancy in Children: A Pictorial Review
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It is extremely rare, occurring primarily in adolescents and young adults, with a 4:1 male to female predominance [11]. Presenting symptoms may include abdominal distension, abdominal mass, urinary disorders, fever, and weight loss [11]. The most common site of origin is the peritoneum, followed by the tunica vaginalis of the testis [10].
Peritoneal malignancies are a rare occurrence in children, often metastatic and rarely originating primarily in the peritoneum. The imaging findings of these entities in the pediatric age have not been recently reviewed or they have been previously described or depicted mostly as part of articles discussing each entity separately. This is a review of the most relevant peritoneal malignancies in childhood emphasizing imaging features. Knowledge of these appearances may facilitate diagnosis and staging of these neoplasms.
Les cancers péritonéaux sont rares chez les enfants. Ils sont souvent métastatiques et prennent rarement naissance dans le péritoine. Les résultats d'imagerie de ces affections malignes chez les patients pédiatriques n'ont pas fait l'objet d'analyses récentes. Si elles ont été décrites auparavant, c'est principalement dans le cadre d'articles traitant de chaque entité séparément. Le présent article porte sur les cancers péritonéaux infantiles les plus pertinents en s'appuyant sur les caractéristiques d'imagerie. Une meilleure connaissance de l'aspect de ces néoplasmes pourrait en faciliter le diagnostic et la stadification.
Primary Malignant Tumors of Peritoneal and Retroperitoneal Origin. Clinical and Imaging Features
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Citation Excerpt :
Desmoplastic small round cell tumor is a rare, highly aggressive malignancy that has been relatively recently described.11,12 It is a member of the family of lesions classified as small round blue cell tumors (lymphoma, neuroblastoma, rhabdomyosarcoma, Ewing sarcoma, neuroectodermic tumors), and is characterized by a recurrent specific chromosomal translocation and distinct immunohistochemical pattern (epithelial, mesenchymal, and neural markers).12 It generally behaves like a soft-tissue sarcoma and has a predilection for primary peritoneal involvement, particularly in adolescent and young adult males.
Peritoneal masses in a young patient
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CT, MRI, and FDG-PET/CT imaging findings of abdominopelvic desmoplastic small round cell tumors: Correlation with histopathologic findings
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To analyze computed tomography (CT), magnetic resonance imaging (MRI), and fluorodeoxyglucose-positron emission tomography (FDG-PET)/CT imaging features of abdominopelvic desmoplastic small round cell tumor (DSRCT) and to improve the diagnostic efficacy of these techniques for the detection of such tumor.
We retrospectively analyzed 7 cases of abdominopelvic DSRCT confirmed by histopathologic analysis. Among the 7 patients, 5 patients had undergone CT scanning, 2 of which were also examined with FDG-PET/CT imaging, and 2 had undergone MRI. Unenhanced and contrast-enhanced examinations were performed in all patients, and 2 patients had also undergone dynamic CT contrast-enhanced examinations. Image characteristics, such as shape, size, number, edge, attenuation, and intensity of each lesion before and after contrast enhancement were analyzed and compared with the pathomorphology of the tumors.
Multiple large masses in the abdominopelvis were detected in 6 cases, and a large mass in the pelvis was detected in 1 case. Six cases showed largest mass in pelvis, and 1 case in mesentery. None of the masses had a definite organ origin. CT showed soft tissue masses with patchy foci of hypodense areas. MR T1-weighted images revealed lesions with mild hypointense areas and patchy hypointense areas in 2 cases and lesions with patchy hyperintense areas in 1 case. T2-weighted images showed lesions with mixed isointense and hyperintense areas in 1 case and lesions with mixed hypointense, isointense, and hyperintense areas in another. Contrast-enhanced CT and T1-weighted images showed mildly heterogeneous enhancement of the lesions. Other associated findings included peritoneal seeding (n = 3), peritoneal effusions (n = 3), hepatic metastasis (n = 2), bone metastasis (n = 1), and mesenteric and retroperitoneal lymphadenopathy (n = 4). FDG-PET/CT showed multiple nodular foci of increased metabolic activity in the abdominopelvic masses, in the hepatic and right ilium in 1 case and foci of increased metabolic activity in the pelvic mass in another.
Radiological findings of DSRCT include multiple masses with heterogeneous density/intensity and without an organ origin. Other common associated findings include peritoneal seeding, peritoneal effusion, hepatic metastasis, and retroperitoneal lymphadenopathy. DSRCT should be considered in the differential diagnosis of regional tumors in adolescents and young adults. FDG-PET/CT can provide additional information on the stage of the tumor.
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Intra-abdominal desmoplastic small round cell tumors: CT findings and clinicopathological correlations in 13 cases

Abstract

Purpose:

Materials and methods:

Results:

Conclusion:

Introduction

Section snippets

Materials and methods

Clinical findings

Discussion

Conclusion

Lung Cancer

Gynecol Oncol

Clin Radiol

Clin Radiol

Radiol Clin North Am

Desmoplastic small celle tumor with divergent differenciation

Pediatr Pathol

Desmoplastic small round cell tumor

Semin Diagn Pathol

Primary desmoplastica small cell tumor of soft tissues and bone of the hand

Am J Surg Pathol

Intra-abdominal desmoplastic small round cell tumor in a 68-year-old female

Eur J Gynaecol Oncol

Desmoplastic small round cell tumors of the paratesticular region. A report of six cases

Am J Surg Pathol

Intraabdominal desmoplastic small round cell tumor presenting as a gastric mural mass with hepatic metastases

J Pediatr Hematol-Oncol

Intracranial desmoplastic small cell tumor

Am J Surg Pathol

Desmoplastic small round cell tumor presenting as a neck mass: a case report

Diagn Cytopathol

Desmoplastic samll round cell tumor. A clinicopathologic, immunohistochemical and molecular study of 32 tumors

Am J Surg Pathol

Primary desmoplastic small cell tumor of soft tissues end bone of the hand

Am J Surg Pathol

CA 125 and neuron-specific enolase(NSE) as tumours markers for intraabdominal desmoplastic small round cell tumours

Br J Cancer

Intra-abdominal desmoplastic small round-cell tumor. Report of 19 cases of a distinctive type of High-grade polyphenotypic malignancy affecting young individuals

Am J Surg Pathol

Desmoplsatic small cell tumor of the peritoneum with divergent differentiation: immunochemical and biochemical findings

Am J Clin Pathol

Translocation (11;22) (p13; Q12): primary change in intraabdominal desmoplastic small round cell tumor

Genes Chromosomes Cancer

Intraabdominal desmoplastic small round-cell tumor: a rare cause of peritoneal malignancy in young people

Eur Radiol