Intra-abdominal Desmoplastic Small Cell Tumor Research Articles

Diagnostic utility of fine needle aspiration cytology in pediatric tumors

Background and Aims: Fine needle aspiration cytology (FNAC) is a relatively new technique for the diagnosis of pediatric tumors. Most of the studies conducted so far have dealt only with malignant neoplasms or neoplasms of a particular organ/organ system in the pediatric population. Our work included a comprehensive study of both benign and malignant tumors in children younger than 15 years of age to correlate their clinical, cytological, and histological findings and to evaluate the effectiveness of FNAC in their diagnosis. Materials and Methods: We studied 588 cases over a period of ten years. Data was collected retrospectively as well as prospectively, and included all patients younger than 15 years of age, who presented with tumors or associated symptoms. Clinical, cytological, and histopathological correlations were done. Results: Benign soft tissue tumors formed the largest group among all pediatric tumors (41.5%). Lymphomas were the most common (25.1%) of all malignant tumors, followed closely by small round cell tumors (SRCTs, 21.3%). FNAC was performed in 342 (55.1%) cases, cyto-histological correlation was possible in 226 (38.4%) cases; and a concordant diagnosis was seen in 218 (37.1%) cases, giving an overall diagnostic accuracy of 96.46% with FNAC. Occasional rare cases like Dabska's tumor and intraabdominal desmoplastic small round cell tumor could also be diagnosed by FNAC. Conclusions: We conclude that FNAC is an effective method for the evaluation and screening of pediatric masses, as well as for follow-up of patients with a history of malignancy.

Spindle Cell Tumor With EWS-WT1 Transcript and a Favorable Clinical Course: A Variant of DSCT, a Variant of Leiomyosarcoma, or a New Entity? Report of 2 Pediatric Cases

We report 2 intra-abdominal tumors originally diagnosed as leiomyosarcomas, occurring in adolescents, one as a second malignancy after a Hodgkin lymphoma. Both tumors exhibited unusual morphologic features characterized by spindle cells arranged in sheets or in fascicles, devoid of the typical desmoplastic stroma. Cytokeratins and mesenchymal markers, including smooth muscle actin, desmin, and muscle specific actin, were coexpressed in the tumor cells, whereas EMA was negative. Reverse transcription-polymerase chain reaction analysis showed an EWS-WT1 fusion transcript. Both patients are alive and in complete remission at 3 and 13 years after diagnosis, respectively. These tumors raise a variety of diagnostic possibilities. They could represent intra-abdominal desmoplastic small round cell tumor, with histologic features of epithelioid leiomyosarcoma or an unusual subtype of leiomyosarcoma with an EWS-WT1 transcript. Alternatively, they could represent an unrecognized subgroup of tumors with spindle cell morphology, bearing the same translocation as desmoplastic small round cell tumor, but characterized by a more favorable clinical course.

Diffuse Intraabdominal Desmoplastic Small Round Cell Tumor: A Ten-Year Experience

Intraabdominal desmoplastic small round cell tumors (IDSRCT) are rare in children and predominantly affect male adolescents and young adults. We present our experience in the management of five children with diffuse IDSRCT, managed with aggressive chemotherapy, surgery, radiotherapy and peripheral blood stem cell transplantation. During the last decade five patients, four males and one female (mean age 9.6 years), with diffuse IDSRCT were managed in our department. The main symptoms were abdominal distention, vague abdominal pain, and vomiting. Three patients with inoperable tumor on admission were submitted initially to open biopsy followed by aggressive chemotherapy. Regression of the tumor was followed by a second laparotomy and radical excision of any macroscopically distinguishable masses, followed by chemotherapy. In the remaining two patients a debulking procedure was done initially, followed by chemotherapy. The accurate diagnosis of the disease was established by immunohistochemistry, additionally confirmed in the last two patients by molecular analysis. Three patients who had radical excision of the tumor and adjuvant chemotherapy had recurrence after two to six months. In the remaining two patients, recurrence was evident after two and eighteen months, respectively, following debulking. In addition, one patient with recurrence received radiotherapy and two others underwent peripheral blood stem cell transplantation. All but one patient died within three years from diagnosis. The last patient, who was submitted to a debulking procedure, is still alive eight months after the operation. Intrabdominal desmoplastic small round cell tumor is a highly aggressive malignancy with a very poor prognosis. Multiagent chemotherapy usually leads initially to a temporary regression of the tumor, but recurrence is the rule. Radical surgical excision, radiotherapy and peripheral blood stem cell transplantation does not seem to improve prognosis significantly. Despite all therapeutic modalities the outcome is dismal and surgical efforts can be considered only as palliative.

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

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

Metastatic neoplasms involving the ovary: a review with an emphasis on morphological and immunohistochemical features

The ovary is a common site of metastatic tumour. In many cases of ovarian metastasis there is a known history of malignancy but in other cases the ovarian tumour is the first manifestation of disease. In this review metastatic colorectal, appendiceal, gastric, breast, pancreatic and biliary tract, hepatocellular, renal, transitional and cervical carcinomas and metastatic malignant melanoma involving the ovary are discussed, as is the issue of synchronous ovarian and endometrial carcinomas. Peritoneal tumours, including primary peritoneal carcinoma, mesothelioma and intra-abdominal desmoplastic small round cell tumour, involving the ovary are also discussed, together with a variety of other rare, metastatic ovarian neoplasms. Many metastatic adenocarcinomas involving the ovary, especially those exhibiting mucinous differentiation, closely mimic primary ovarian adenocarcinomas with morphologically bland areas simulating benign and borderline cystadenoma. This is referred to as a maturation phenomenon. In recent years immunohistochemistry, especially but not exclusively differential cytokeratin (CK7 and CK20) staining, has been widely used as an aid to distinguish between a primary and secondary ovarian adenocarcinoma. While immunohistochemistry undoubtedly has a valuable role to play and is paramount in diagnosis in some cases, the results must be interepreted with caution, especially in mucinous tumours, and within the relevant clinical context. We feel the significance of differential cytokeratin staining is not always understood by histopathologists and this can result in erroneous interpretation. We critically discuss the value of immunohistochemistry and associated pitfalls with each tumour type described.

Intraabdominal desmoplastic small round cell tumors

Intraabdominal desmoplastic small round cell tumors (IDSRCT) are uncommon but aggressive tumors that occur in young males. To the authors' knowledge, only limited data are available on the natural history and optimal treatment of this disease. The authors reviewed 12 patients with IDSRCT who were treated at their institution between January 1991 and December 2001. All patients were males, with a median age of 26 years. All patients were symptomatic at the time of presentation, with a mean duration of symptoms of 2 months. Common presenting symptoms and signs were abdominal pain (67% of patients), palpable abdominal mass (58% of patients), abdominal distension (42% of patients), and hepatomegaly (33% of patients). Six patients (50%) had distant metastases at presentation. Five patients underwent biopsy only. Surgical resection was attempted in seven patients and included macroscopic total resection in three patients and debulking in four patients. All of those patients subsequently developed recurrent or progressive disease, which required a second operation in six patients. Overall, 6 patients (50%) developed symptomatic intestinal obstruction requiring surgical management, and 3 patients (25%) developed ureteral obstruction. All 12 patients received multiagent chemotherapy. Seven patients (55%) also received radiation therapy. The median survival of patients who underwent surgical resection was 34 months, whereas the median survival of patients who underwent biopsy alone was 14 months. One patient remained alive 72 months after he underwent complete resection of primary and recurrent tumors, and 1 patient remained alive with disease 32 months after he underwent complete resection of a primary tumor. Patients with IDSRCT presented with a short duration of nonspecific symptoms, and the disease was fatal almost uniformly, regardless of the treatment modality used. Surgical resection may prolong survival in some patients.

Ovarian Neoplasms Composed of Small Round Cells

Ovarian neoplasms composed predominantly or exclusively of small round cells with scant cytoplasm are relatively rare. However, there is a wide differential, and pathologists often struggle to make a correct diagnosis because of overlapping histologic features. Perhaps the best known of these neoplasms is ovarian small cell carcinoma of hypercalcemic type (OSCCHT), a tumor of unknown histogenesis. This may be confused with a wide range of neoplasms ranging from sex cord-stromal tumors (some of which may exhibit a small cell phenotype) to neoplasms in the family of small round blue cell tumors to various undifferentiated malignancies. A neuroendocrine small cell carcinoma, so-called small cell carcinoma of pulmonary type, may also arise within the ovary, and this may be a component of a typical ovarian surface epithelial-stromal tumor. In addition to the well-known family of small round blue cell tumors of childhood, other small cell neoplasms that may arise within the ovary or involve the ovary include intra-abdominal desmoplastic small round cell tumor, metastatic small cell carcinoma, peripheral and central primitive neuroectodermal tumor, and endometrial stromal sarcoma. Malignant melanoma, undifferentiated carcinoma, and various germ cell tumors, especially dysgerminoma and immature teratoma, also on occasion enter into the differential diagnosis of an ovarian small cell neoplasm. In this review, the morphologic features of some of these neoplasms are described, as is the value of immunohistochemistry and other ancillary techniques in establishing a diagnosis.

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

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.

An immunohistochemical analysis of ovarian small cell carcinoma of hypercalcemic type.

Ovarian small cell carcinoma of hypercalcemic type (OSCCHT) is a rare neoplasm with an aggressive behavior, broad differential diagnosis, and unknown histogenesis. To add to knowledge concerning the possible aid of immunohistochemistry in resolving problems in differential diagnosis and to further explore whether that modality points to any specific histogenesis, we undertook an immunohistochemical study of this neoplasm. Fifteen OSCCHTs (including four of the ''large cell" variant) were stained with a range of antibodies, some of which have not been investigated previously in this neoplasm. Cases were stained with AE1/3, EMA, BerEP4, CK5/6, calretinin, WT1, chromogranin, CD56, synaptophysin, CD99, NB84, desmin, S100, CD10, alpha inhibin, TTFI, and p53. Staining was classified as 0 (negative), 1+ (<5% cells positive), 2+ (5% to 25% cells positive), 3+ (26% to 50% cells positive), or 4+ (>50% cells positive). All cases were positive with p53 (two 1+, five 3+, eight 4+), 14 of 15 cases were positive with WT1 (one 1+, thirteen 4+), 14 of 15 with CD10 (three 1+, four 2+, two 3+, five 4+), 13 of 15 with EMA (three 1+, three 2+, two 3+, five 4+), 11 of 15 with calretinin (nine 1+, one 3+, one 4+), 9 of 15 with AE1/3 (eight 1+, one 2+), 4 of 15 with CD56 (one 1+, two 2+, one 4+), 3 of 15 with BerEP4 (two 2+, one 4+), 2 of 15 with synaptophysin (two 1+), and 1 of 15 with S100 (4+). All cases were negative with CK5/6, chromogranin, CD99, NB84, desmin, alpha inhibin, and TTF1. The only noticeable difference in the immunophenotype between typical OSCCHT and the large cell variant was that there was 4 +EMA positivity in three of four cases of large cell variant compared with two of 11 cases of typical OSCCHT. OSCCHT is characteristically positive with AE1/3, EMA, CD10, calretinin, WT1, and p53. Combined EMA and WT1 positivity, the latter usually intense and diffuse, may be of diagnostic value, inasmuch as only a few of the neoplasms in the differential diagnosis are positive with both antibodies. Negative staining with CD99, desmin, NB84, alpha-inhibin, and TTF1 may aid in the cases in which primitive neuroectodermal tumor, rhabdomyosarcoma, intraabdominal desmoplastic small round cell tumor, neuroblastoma, a sex cord-stromal tumor, and metastatic pulmonary small cell carcinoma are in the differential. Calretinin positivity precludes its use in the differential with granulosa cell tumors. The results of this investigation do not settle the issue of histogenesis, which remains enigmatic. The typical age distribution, follicle formation, and calretinin positivity are consistent with a sex cord origin. On the other hand, WT1 and EMA positivity and negative staining with alpha-inhibin would be unusual in a sex cord-stromal neoplasm and can be used as an argument for a surface epithelial origin. Germ cell and neuroendocrine origins seem highly unlikely.

Diagnosis of intra-abdominal desmoplastic small round cell tumor by fine needle aspiration cytology

Diagnosis of intra-abdominal desmoplastic small round cell tumor by fine needle aspiration cytology

Intra-Abdominal Desmoplastic Small Round Cell Tumor with Elevated Serum CA 125: A Case Report

Desmoplastic small round cell tumor (DSRCT) is a rare and highly aggressive tumor usually involving the peritoneum. It occurs more commonly in young males and is characterized by distinctive clinical, histologic, and immunophenotypic features. The histogenesis of DSRCT remains unknown. Coexpression of epithelial, mesenchymal, and neural antigens in the same cell provides evidence that DSRCT may arise from a primitive pluripotent stem cell with divergent differentiation. Recently, according to cytogenetic studies, some authors have proposed that the divergent differentiation of DSRCT may be the result of the fusion of Ewing's sarcoma gene and Wilms' tumor suppressor gene. Clinically, an elevated serum CA 125 concentration is found in some patients with DSRCT. We present the case of a 29-year-old man with diffuse intra-abdominal DSRCT and elevated serum CA 125 concentration and briefly review the relevant literature.

Intraabdominal desmoplastic small round cell tumor. Report of two cases in pediatric patients: N. Baltogiannis, G. Mavridis, and D. Keramidas. Eur J Pediatr Surg 12:333–336, (October), 2002

Intraabdominal desmoplastic small round cell tumor. Report of two cases in pediatric patients: N. Baltogiannis, G. Mavridis, and D. Keramidas. Eur J Pediatr Surg 12:333–336, (October), 2002

Percutaneous image-guided fine-needle aspiration of peritoneal lesions.

Fine-needle aspiration (FNA) is a widely accepted technique for the initial tissue diagnosis of a variety of lesions arising within retroperitoneal and intraabdominal viscera. Fear of complications secondary to perforation of the bowel wall has limited the use of FNA in the diagnosis of gastrointestinal and peritoneal masses. A variety of primary and secondary neoplasms involving the peritoneum may present as multiple nodules, as masses, or as diffuse involvement of the peritoneum. When these lesions are associated with mass lesions or areas of significant peritoneal thickening, they become amenable to percutaneous image-guided FNA. We report on our experience with a series of 23 peritoneal lesions investigated by FNA for which subsequent histologic confirmation was available in 19, along with an additional 4 cases without histologic confirmation. One to four passes were made into each lesion, and immediate assessment for adequacy was performed by a cytopathologist in all cases. All 17 cases with a specific cytologic diagnosis and histologic confirmation represented either primary or metastatic neoplasms (5 gastrointestinal stromal tumors, 4 metastatic melanomas, 2 mesotheliomas, 1 lymphoma, 1 example of Kaposi's sarcoma, 1 serous papillary carcinoma of ovarian origin, 1 mucinous adenocarcinoma of ovarian origin, 1 intraabdominal desmoplastic small-cell tumor, and 1 solitary fibrous tumor of the peritoneum). In an additional 4 cases, the aspirates were judged as insufficient for diagnosis, with the smears containing only blood and benign mesothelial cells and/or inflammatory cell elements. These four smears were associated with both neoplastic and nonneoplastic lesions. Surgical confirmation was obtained in only 2 of these cases (1 metastatic melanoma and 1 example of omental and peritoneal involvement by an ovarian adenocarcinoma). Two cases without histologic confirmation were associated with clinically confirmed metastases. In our series, no acute or chronic postprocedural complications were identified, indicating that FNA in this setting is a safe technique. Accurate cytologic diagnosis was achieved in 74% of cases. The overall insufficiency rate was 26%.

Cytological analysis of ascitic fluid from an adolescent male with intra-abdominal desmoplastic small round cell tumor.

Cytological analysis of ascitic fluid from an adolescent male with intra-abdominal desmoplastic small round cell tumor.

Desmoplastic small round cell tumor of the abdomen: radiologic-histopathologic correlation.

To characterize the imaging features of desmoplastic small round cell tumor of the abdomen and correlate them with the histopathologic findings. Eleven of 14 patients with desmoplastic small round cell tumor had primary abdominal involvement. In nine of these patients (mean age, 20 years), results of imaging studies (computed tomography in nine patients, ultrasonography [US] in three) and histopathologic specimens were retrospectively analyzed. The hallmark imaging feature was lobulated peritoneal masses (mean number, 4.4; range, 1-17) with a mean diameter of 5.0 cm (range, 2-12 cm). Omental and paravesical tumors were each present in six patients. Retroperitoneal masses were present in three patients. The tumors were well defined and hypoechoic at US. Heterogeneity due to tumor hemorrhage or necrosis was seen in seven patients. Ascites was present in five patients. Parenchymal and/or serosal hepatic metastases, punctate calcifications, nodular peritoneal thickening, lymphadenopathy, hydronephrosis, and bowel obstruction were less common associated findings. Bulky peritoneal soft-tissue masses without an apparent organ-based primary site are characteristic of intraabdominal desmoplastic small round cell tumor. Although the findings are nonspecific, this diagnosis can be considered in adolescents and young adults with characteristic imaging findings.

Novel Breakpoints of the EWS Gene and the WT1 Gene in a Desmoplastic Small Round Cell Tumor

We report here a 15-year-old boy with an intraabdominal desmoplastic small round cell tumor (DSRCT). Cytogenetic analysis of the tumor cells showed the chromosomal translocation (11;22). Reverse-transcriptase polymerase chain reaction and sequencing analysis revealed a chimeric transcriptional message of the EWS gene exon 10 fused to the WT1 gene exon 8. The typical chimeric transcript seen in DSRCT is an in-frame fusion of EWS exon 7 to WT1 exon 8. The tumor in this case had a novel and longer chimeric transcript, which should be a potent transcription factor. Genetic analysis is a very powerful and specific aid in the differential diagnosis of small round cell tumors.

Uterine involvement by intra-abdominal desmoplastic small round cell tumor in a 63-year-old female

Hui Y-Z, Xue W-C, Dai L, Yu H, Guo Q-X, Qian H-N. Uterine involvement by the intra-abdominal desmoplastic small round cell tumor in a 63-year-old female. Int J Gynecol Cancer 1998; 8: 434–438. A 63-year-old female with the newly described neoplasm “intra-abdominal desmoplastic small round cell tumor” is presented. Clinically, the patient presented with hematuria for a period of 15 days, and multiple, complex abdominopelvic tumor masses with uterine involvement were found. Diagnosis was based on pathologic examination of tissue specimens obtained during exploratory laparotomy. In our patient, all the pathologic criteria for intra-abdominal desmoplastic small round cell tumor were met, despite the patient's age. Similar to most patients with this tumor, our patient survived for only four months following surgery. To our knowledge, this is the third case of intra-abdominal desmoplastic small round cell tumor described in a post-menopausal female.

Molecular genetics in the diagnosis and prognosis of solid pediatric tumors.

The field of molecular genetics continues to see an ever increasing number of applications to pediatric tumor analysis. Studies in pediatric tumors have identified novel genes and other genetic changes, a large number of which reflect one of the following mechanisms: (1) activation of proto-oncogenes; (2) loss of tumor suppressor genes; or (3) creation of novel fusion proteins. At least one of these mechanisms is operational in each of the following pediatric tumors: neuroblastoma, Ewing sarcoma and peripheral primitive neuroectodermal tumor (pPNET), intra-abdominal desmoplastic small-cell tumor, rhabdomyosarcoma, synovial sarcoma, and Wilms tumor. Out of this research has come not only an increased understanding of oncogenesis but also, for each of the tumors listed above, diagnostic and/or prognostic markers that can be used by the pathologist and oncologist to improve overall patient management.

Intra-abdominal desmoplastic small cell tumor presenting as an acute abdomen after trauma

The intraperitoneal mass most commonly encountered after blunt abdominal truama is a hematoma. However, one must also consider unusual bulky tumors that can have imaging characteristics similar to those of hematoma. The most typical of these neoplasms is lymphoma, but a desmoplastic small cell tumor also may be observed. The presentation and imaging findings of a desmoplastic small tumor are described.

Desmoplastic Small Round Cell Tumor: RT-PCR Analysis and Immunohistochemical Detection of the Wilm's Tumor Gene WT1

Desmoplastic small round cell tumor is an aggressive neoplasm first described in 1991. Recently, a reciprocal translocation t(11;22)(p13;q12) has been characterized by conventional cytogenetic studies and molecular analysis. This translocation involves the Ewing's sarcoma gene on chromosome 22 and the Wilms' tumor gene WT1 on chromosome 11. The chimeric transcript corresponding to the fusion gene could be detected by the reverse transcriptase-polymerase chain reaction (RT-PCR). Using an anti-WT1 antibody, the WT1 part of the putative chimeric protein could be recognized by immunohistochemistry. We describe two well-characterized cases of intraabdominal desmoplastic small round cell tumor in two male patients aged 14 and 28 with both RT-PCR analysis and immunostaining for WT1. In this report, we insist on the necessity to increase the RT-PCR analysis in DSRCT in order to obtain a precise differential diagnosis. In addition, WT1 immunostaining may serve as a useful diagnostic marker for DSRCT.