Intra-abdominal Desmoplastic Small Round Cell Research Articles

Intra-abdominal desmoplastic small round cell tumor: The European pediatric Soft tissue sarcoma Study Group (EpSSG) experience.

This study describes the clinical findings of a consecutive series of pediatric and adolescent patients with a diagnosis of intra-abdominal desmoplastic small round cell tumor (DSRCT) prospectively enrolled in European pediatric Soft tissue sarcoma Study Group (EpSSG) protocols: the BERNIE study, the EpSSG MTS 2008 study, and the EpSSG NRSTS 2005 study. Patients aged less than 21years with a diagnosis of DSRCT arising in the abdomen were included. All trials recommended a multimodal approach including intensive multidrug chemotherapy and loco-regional treatment with surgery and/or radiotherapy whenever possible. The analysis included 32 cases (median age 13.7years, male:female ratio 1.5:1). Three patients had localized tumors, seven had regionally disseminated disease, and 22 extraperitoneal metastases. All but one patient received multidrug chemotherapy and 11 had maintenance chemotherapy. Loco-regional treatment consisted of surgery only in seven cases, surgery plus adjuvant radiotherapy in 10, and radiotherapy only in six. Among the 17 cases who had radiotherapy, six had irradiation of the primary site, 10 had whole abdominopelvic radiotherapy plus boost to macroscopic residual disease, and one had irradiation to lung metastases only. With a median follow-up of 76months (range: 18-124months), 5-year event-free and overall survivals were 19.7% and 21.0%, respectively. Event-free survival was significantly worse for patients who did not receive loco-regional treatment (p-value .007). The study confirmed that the outcome of patients with DSRCT remains dismal and did not improve over recent years despite an intensive multimodal treatment approach.

Intra-Abdominal Desmoplastic Small Round Cell Tumor (DSRCT) and the Role of Hyperthermic Intraperitoneal Chemotherapy (HIPEC): A Review.

Desmoplastic small round cell tumor is a very rare and highly aggressive soft tissue sarcoma, usually presenting with multiple intra-abdominal tumors in young males. Patients present with advanced disease and the overall survival is dismal. Multiple studies report relatively favorable outcomes with multimodal treatment consisting of chemotherapy, surgery and radiotherapy. If resection is feasible, complete cytoreductive surgery is the cornerstone of surgical treatment. The benefit of hyperthermic intraperitoneal chemotherapy in addition to cytoreductive surgery is unclear, and few studies have evaluated this option. We sought to identify the role of hyperthermic intraperitoneal chemotherapy in patients with intra-abdominal desmoplastic small round cell tumor. Our review of the available literature revealed no clear survival benefit in performing hyperthermic intraperitoneal chemotherapy after cytoreductive surgery.

Response to chemotherapy combined with anlotinib plus anlotinib maintenance in intra-abdominal desmoplastic small round cell tumors (IADSRCT): a case report and literature review

BackgroundIntra-abdominal desmoplastic small round cell tumors (IADSRCT) are rare and aggressive neoplasia that are resistant to chemotherapy. Anlotinib is an oral multi-target tyrosine kinase inhibitor that also has anti-angiogenic and anti-proliferative properties. In this article, we report on a case showing effective and durable responses to chemotherapy combined with anlotinib in a young man with IADSRCT.Case presentationA 27-year-old man was admitted to our hospital complaining of a palpable periumbilical mass that had been present for longer than 4 months. The diagnosis of IADSRCT was confirmed by biopsy and immunohistochemistry. An extensive unresectable metastasis was found on the initial diagnosis. The patient received six cycles of chemotherapy combined with anlotinib, and maintenance therapy with anlotinib was recommended. Hematochezia, proteinuria and hypertension were observed, however, long-term maintenance therapy was well tolerated. A partial response was observed after two cycles of combined therapy and the patient was still alive with stable disease at the time of reporting.ConclusionsChemotherapy combined with anlotinib plus anlotinib maintenance showed promising efficacy and manageable toxicity in the treatment of advanced IADSRCT.

Intraabdominal and ganglionic desmoplastic small round cell tumor: a\xa0case series

IntroductionDesmoplastic small round cell tumor is a rare malignancy with poor prognosis, affecting young male patients. It frequently presents as a large abdominal mass with widespread peritoneal involvement at diagnosis. In late stages, metastases may be present.AimWe retrospectively reviewed patient characteristics, presenting symptoms, tumor pathology, treatment, and outcome of four patients with desmoplastic small round cell tumor at our institution.Cases presentationThe first three cases reported are 32-, 17-, and 30-year-old North African males with intraabdominal desmoplastic small round cell tumor treated by surgery, chemotherapy, and radiation therapy with different follow-ups. The final case is a 16-year-old North African male with ganglionic desmoplastic small round cell tumor but no evidence of a tissue mass. He underwent two lines of chemotherapy with no response. The patient was lost after 2 years of follow-up. In all cases, desmoplastic small round cell tumor was confirmed by presence of t(11,22) (p13,q12) translocation.ConclusionTreatment of desmoplastic small round cell tumor is based on multidisciplinary therapy. Despite high-dose chemotherapy, extensive surgical resection, and radiotherapy, desmoplastic small round cell tumor remains lethal.

A Case of Intra-Abdominal Desmoplastic Small Round Cell Tumor in a Young Girl Patient

A Case of Intra-Abdominal Desmoplastic Small Round Cell Tumor in a Young Girl Patient

Intra-abdominal desmoplastic small round cell tumour: staging and surveillance with 18F-FDG PET/CT following peritonectomy and HIPEC

Intra-abdominal desmoplastic small round cell tumours are rare aggressive tumours of mesothelial origin with less than 60 cases reported in the literature. They are difficult to treat and the role of 18F-fludeoxyglucose positron emission tomography (PET)/CT scan in their management has not been established. A 41-year-old male presented with a 21-cm desmoplastic small round cell tumour and was managed with radiotherapy, surgery and chemotherapy, with each treatment monitored and guided by 18F-fludeoxyglucose PET/CT scan. We present the imaging findings of the serial PET/CT scans of this patient and their impact on management.

Intra-abdominal desmoplastic small round cell tumors: CT and FDG-PET/CT findings with histopathological association.

Desmoplastic small round cell tumors (DSRCTs) are rare and aggressive malignant tumors. The aim of the present study was to analyze computed tomography (CT) and fluorodeoxyglucose positron emission tomography (FDG-PET)/CT imaging features of intra-abdominal desmoplastic DSRCT, and investigate the association of these features with histopathological results. The present study was a retrospective investigation of 4 patients with DSRCT. All patients underwent CT and dynamic CT, and 1 additionally underwent FDG-PET/CT scanning. Following a tumor resection, routine hematoxylin and eosin staining, and immunostaining, were performed and evaluated. Multiple large abdominopelvic masses were identified in all 4 patients; however, no indications of their site of origin were demonstrated. CT revealed soft-tissue masses with patchy foci of hypodense lesions. Contrast-enhanced CT revealed slightly or moderately heterogeneous enhancement of the lesions. Other observations from these patients included calcification (n=2), peritoneal seeding (n=3), hepatic metastasis (n=3), retroperitoneal lymphadenopathy (n=3) and ascites (n=2). FDG-PET/CT revealed multiple nodular increased FDG uptake in the abdominopelvic masses, and in the liver and peritoneum in 1 case. Intra-abdominal DSRCT demonstrated significant diagnostic characteristics on plain and contrast-enhanced CT. Multiple, bulky soft-tissue masses inside the peritoneal cavity, particularly in male adolescents and young adults, should be considered as potential cases of DSRCT. FDG-PET/CT techniques may be utilized to aid the staging of tumors.

Acute intestinal obstruction requiring surgery in pediatric malignancies: Summary of 7 cases

Abstract Catheter-related or perianal problems are common surgical complications in patients with pediatric malignancies. Acute intestinal obstructions requiring surgical intervention are rare, however. We herein report our experience of 7 patients with separate primary diagnoses who developed acute intestinal obstruction that mandated surgery before or during chemotherapies. The original diseases were hematologic malignancies in 5 patients (3 leukemia, 1 lymphoma, 1 Langerhans cell histiocytosis (LCH)) and solid tumors in 2 patients (1 intra-abdominal desmoplastic small round cell tumor (DSRCT), 1 rhabdomyosarcoma of vagina). The intestinal obstructions were treated by resection of the involved segment with ( N = 2) or without ( N = 3) enterostomy. Two cases of intestinal obstruction were treated with an enterostomy alone. Three patients died due to the progression of the original disease, and 3 patients are currently alive. One patient was lost to follow-up. Although rare, acute intestinal obstructions can occur during the treatment course of pediatric malignancies or be an initial symptom of disease. Operative intervention is mandatory and effective in the treatment of such complications. Overall patient prognosis is dependent on the original disease.

Primary intra-renal desmoplastic small round cell tumor: Expanding the histologic spectrum, with special emphasis on the differential diagnostic considerations

Intra-abdominal desmoplastic small round cell tumor (DSRCT) is a rare, aggressive tumor affecting adolescent and young males. DSRCT presenting as a primary renal mass in the absence of visceral or serosal involvement is extremely rare. Herein, we present the pathologic and molecular findings in the case of a young man who presented with a large renal mass without any visceral or serosal involvement. Noticeably, the tumor lacked prominent desmoplastic stroma and only focally expressed cytokeratin, both of which are considered characteristic histologic features for this tumor. Fluorescence in situ hybridization studies using an EWSR1 break-apart probe confirmed the presence of a rearrangement involving the EWSR1 locus and RT-PCR demonstrated the presence of an EWSR1-WT1 fusion transcript associated with the t(11;22) rearrangement, which supported a diagnosis of DSRCT. We also discuss the differential diagnostic considerations faced by the pathologist in the workup of small round cell neoplasms of the kidney.

Removal of an intra-abdominal desmoplastic small round cell tumor by repetitive debulking surgery: A case report and literature review.

In the current study, a case of recurrent desmoplastic small round cell tumor (DSRCT) is presented, which was successfully treated by repetitive debulking surgery. In May 2010, a 39-year-old male, with a history of surgical resection of intra-abdominal DSRCT, visited the Ibaraki Medical Center, Tokyo Medical University Hospital (Ami, Japan) with severe lower abdominal discomfort. Abdominal computed tomography revealed a large tumor in the pouch of Douglas with a small number of nodules in the abdominal cavity. The recurrent DSRCT was diagnosed and removed via lower anterior resection; however, complete resection was impossible due to multiple peritoneal metastases. One year later, the patient developed pain in the right groin due to the growth of metastasized tumor cells in the groin lymph nodes. The affected lymph nodes were removed utilizing an extra-peritoneal approach. At the time of writing, the patient continues to survive without any symptoms 60 months since the initial surgery. In conclusion, surgical debulking is a significant procedure for relieving patient symptoms as well as improving the survival time of patients with metastatic and recurrent DSRCT.

Intra-abdominal desmoplastic small round cell tumour

Intra-abdominal desmoplastic small round cell tumour (DSRCT) is a rare and highly aggressive malignant neoplasm with a strong predilection in young male adults. and frequently presents as a large abdominal mass .Here, we present a case of DSRCT in a 40 years male with mild ascitis. DOI: http://dx.doi.org/10.3329/cbmj.v2i2.16704 Community Based Medical Journal 2013 July: Vol.02 No 02: 75-77

Intraabdominal desmoplastic small round cell tumor: Report of a case and literature review

IntroductionDesmoplastic small round cell tumor is a rare malignancy with poor prognosis that predominantly affects young males. Its etiopathogenesis is still unknown and diagnosis can be achieved only by immunohistochemistry and cytogenetic studies. Due to our limited knowledge of the pathologic and clinical nature of this disease, there is no clear consensus regarding the optimal therapeutic procedures for treating this neoplasm. A high degree of care and improvements in diagnostic capabilities are required in order to identify this entity and avoid misdiagnosis. Case presentationWe report a new case of a 29-year-old male who proceeded to our Emergency Department complaining about non-specific abdominal pain. Physical examination revealed no abnormalities except for a palpable mass in the lower abdomen and a diffuse abdominal pain. Computed Tomography scan showed enlarged paraortic and mesenteric lymphadenopathy, thickness of the small bowel wall and dispersed masses intraperitoneally. He underwent an exploratory laparotomy and the resultant biopsy revealed desmoplastic small round cell tumor. DiscussionDiagnosis of desmoplastic small round cell tumor can easily be missed because it presents with few early warning symptoms and signs, while the routine blood tests are within normal limits. ConclusionA high degree of suspicion, a thorough physical examination, a full imaging check and an aggressive therapeutic approach are required in order to identify this disease and fight for a better quality of life for these patients. In addition we make a review of the literature in an effort to clarify the epidemiological, clinical and pathological aspects of this entity.

Desmoplastic small round cell tumor of the stomach mimicking a gastric cancer in a child

Intra-abdominal desmoplastic small round cell tumor (DSRCT) is a highly malignant tumor of uncertain histogenesis. Here we report a case of DSRCT involving the stomach, initially misdiagnosed as gastric cancer. A 12-year-old boy presented with upper abdominal pain developed 1 month prior. On gastroscopy, a 7-cm mass was noted involving the esophago-gastric junction to the fundus, and positron emission tomography showed multiple hot uptakes suggesting distant metastasis. Gastroscopic biopsy showed poorly differentiated malignant cells. We diagnosed as stage IV gastric cancer and treated with 6 cycles of chemotherapy. Laparotomy revealed a huge gastric mass along with peritoneal disseminations. Palliative proximal gastrectomy was performed. Pathological examination revealed transmural involvement of DSRCT, and t(11;22)(p12;q12) was demonstrated on fluorescence in situ hybridization test. The chemotherapeutic regimen was changed and the patient underwent 8 additional cycles of post-operative chemotherapy. The patient is now alive and the residual tumor shows no significant changes after chemotherapy.

Intra-abdominal desmoplastic small round cell tumor: Presentation of four cases and review of the literature

Desmoplastic small round cell tumor (DSRCT) of the abdomen is a recently identified aggressive neoplasm. Very few cases have been reported in the literature. Thus, the treatment guidelines are yet to be defined. The role of chemotherapy, radiotherapy and surgery is evolving. We treated four cases of DSRCT involving the abdomen using combination chemotherapy and/or tumor cytoreductive surgery. There were two men and two women. The chemotherapy drugs consisted of cisplatin, adriamycin, etoposide, ifosphamide, vincristine and cyclophsophamide. All patients achieved meaningful partial response to chemotherapy, which maintained for 6–9 months. There were very minimal chemotherapy-related complications. At the time of reporting, the median survival time was 15 months. Thus, DSRCT is an aggressive intra-abdominal tumor with excellent chemoresponsiveness, but relapse is frequent.

Treatment of intraabdominal desmoplastic small round cell tumor with ifosfamide-based chemotherapy.

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.

Diagnostic Utility of Nestin Expression in Pediatric Tumors in the Region of the Kidney

Nestin is an intermediate filament that was first identified in neuroepithelial stem cells. During embryogenesis, nestin is expressed in a number of cell types, including neural crest cells and developing myocytes. We have recently shown that nestin is expressed in human podocytes and nephrogenic blastema. We sought to determine the utility of nestin expression in distinguishing pediatric tumors in the region of the kidney. Cases studied included Wilms tumor (n=24), nephroblastomatosis (n=6), renal cell carcinoma (n=19), renal clear cell sarcoma (n=9), mesoblastic nephroma (n=9), neuroblastoma (n=11), malignant rhabdoid tumor (n=8 including 2 renal), Ewing sarcoma (n=16 including 1 renal, 7 soft tissue, and 8 bone), intra-abdominal desmoplastic small round cell tumor (n=5), and rhabdomyosarcoma (n=8, all extrarenal). Nestin expression was assessed semiquantitatively by immunohistochemistry and then scored as positive or negative. All cases of Wilms tumor, mesoblastic nephroma, rhabdomyosarcoma, neuroblastoma, malignant rhabdoid tumor, and desmoplastic small round cell tumor were nestin-positive. In Wilms tumor and nephroblastomatosis, nestin was expressed in blastema and glomeruloid structures, but not tubules. In neuroblastoma, positive staining was detected regardless of degree of differentiation. The majority of Ewing sarcoma and renal cell carcinoma were negative. Expression in clear cell sarcoma was variable with 5 cases negative and 4 cases positive. Thus, nestin is a highly sensitive, but nonspecific, marker of Wilms tumor in the context of tumors that may occur in or around the kidney. Nestin reactivity may be useful in differentiating Wilms tumor from Ewing sarcoma, renal cell carcinoma, or nestin-negative clear cell sarcoma.

Intra-abdominal desmoplastic small round cell tumour in a 39-year-old man

Desmoplastic small round cell tumor is a very rare neoplasm, that usually appears in children and young adolescents. There is no standard therapy, and responses to chemotherapy are infrequent. Surgery is still the main treatment for this disease. We report the case of a 39 year-old man and briefly summarize the evidence about this tumor.

Malignant small round cell tumors

Malignant small round cell tumors are characterised by small, round, relatively undifferentiated cells. They generally include Ewing's sarcoma, peripheral neuroectodermal tumor, rhabdomyosarcoma, synovial sarcoma, non-Hodgkin's lymphoma, retinoblastoma, neuroblastoma, hepatoblastoma, and nephroblastoma or Wilms’ tumor. Other differential diagnoses of small round cell tumors include small cell osteogenic sarcoma, undifferentiated hepatoblastoma, granulocytic sarcoma, and intraabdominal desmoplastic small round cell tumor. Differential diagnosis of small round cell tumors is particularly difficult due to their undifferentiated or primitive character. Tumors that show good differentiation are generally easy to diagnose, but when a tumor is poorly differentiated, identification of the diagnostic, morphological features is difficult and therefore, no definitive diagnosis may be possible. As seen in several study reports, fine needle aspiration cytology (FNAC) has become an important modality of diagnosis for these tumors. The technique yields adequate numbers of dissociated, viable cells, making it ideally suitable for ancillary techniques. Typically, a multimodal approach is employed and the principal ancillary techniques that have been found to be useful in classification are immunohistochemistry and immunophenotyping by flow cytometry, reverse transcriptase polymerase chain reaction (RT-PCR), fluorescence in situ hybridization (FISH), and electron microscopy. However, the recent characterization of chromosomal breakpoints and the corresponding genes involved in malignant small round cell tumors means that it is possible to use molecular genetic approaches for detection.

A new molecular variant of desmoplastic small round cell tumor: significance of WT1 immunostaining in this entity

Desmoplastic small round cell tumor is a rare aggressive neoplasm, often presenting in young adult males. Although the classic features are well described, considerable clinical, pathologic, and immunohistochemical variation has been reported. The defining feature is a reciprocal translocation, t(11;22)(p13;q12), which fuses EWS on chromosome 22 to WT1 on chromosome 11. WT1 immunohistochemistry is reportedly useful in distinguishing desmoplastic small round cell tumor from other tumors. Herein, we describe a desmoplastic small round cell tumor of soft tissue with an unusual pattern of WT1 expression associated with a novel variant EWS-WT1 fusion transcript. We compare WT1 expression pattern with 5 intra-abdominal desmoplastic small round cell tumors and review the literature on WT1 expression and variant transcripts in desmoplastic small round cell tumor. Immunohistochemistry for the N- and C-terminals of WT1 was performed in 6 desmoplastic small round cell tumors. The EWS-WT1 fusion transcript was confirmed in all cases by reverse transcriptase polymerase chain reaction. Sequencing of fusion transcripts and reverse transcriptase polymerase chain reaction for wild-type WT1 was performed in 4 cases. The soft tissue desmoplastic small round cell tumor was negative for the WT1 C-terminal and showed nuclear staining with the N-terminal antibody. This case demonstrated 2 novel fusion transcripts, both lacking WT1 exons 9 and 10 and one containing additional exons of WT1 (exons 3-7). This tumor also strongly expressed full-length WT1. Five intra-abdominal desmoplastic small round cell tumors showed nuclear staining for WT1 C-terminal, but not for the N-terminal antibody. Although WT1 immunohistochemistry reflects the EWS-WT1 fusion transcript in most desmoplastic small round cell tumors, some cases express full-length WT1 or have variant transcripts, resulting in atypical staining patterns. Hence, interpretation of WT1 immunostaining requires knowledge of antibody target epitopes and correlation with clinical, morphological, and molecular genetic findings for establishing a diagnosis of desmoplastic small round cell tumor.

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.