Typically, desmoplastic small round cell tumors, as the name suggests, demonstrate desmoplastic stroma surrounding round to. Intraabdominal desmoplastic small round cell rumor. Incidence and outcomes of desmoplastic small round cell tumor. Jul 26, 2017 desmoplastic small round cell tumor dsrct is a rare, biologically aggressive soft tissue neoplasm of uncertain differentiation, most often arising in the abdominal and pelvic cavities of adolescents and young adults with a striking male predominance. Jun 15, 2015 desmoplastic small round cell tumor dsrct is a rare and highly aggressive disease, which mainly affects adolescents and young adults. Desmoplastic small round cell tumor dsrct is a small round cell tumor usually presents as abdominal lump or omental metastasis 1. Sep 09, 2016 desmoplastic small round cell tumor dsrct is a rare type of soft tissue cancer sarcoma that usually begins in the abdomen. In this consult qd article, cleveland clinic childrens pediatric oncologist peter anderson, md, phd, discusses the recent advances in treating this rare tumor and his own clinical. Desmoplastic small round cell tumors dsrct are a type of softtissue sarcoma. Desmoplastic small round cell tumor of the pleura is a rare malignancy, with only a few cases reported in the scientific literature.
Desmoplastic small round cell tumor of the submandibular glanda rare but distinctive primary salivary gland neoplasm. Due to the rarity of this neoplasm, no large population based studies exist. Research has indicated that there is a chimeric relationship between desmoplastic small round cell tumor and wilms tumor and ewings sarcoma. When dealing with small round cell tumors, the term small can be relative, so that undifferentiated neoplasms may contain cells that are. Intraperitoneal radioimmunotherapy with 1i8h9 for patients. The subset with dsrct had a very poor response to treatment a 43% histological response versus the 85% response in the other small round cell tumour types. We retrospectively analysed 41 patients treated at or referred to two regional referral centres in the uk between 1991 and 2012. A tetraspaninfamily protein, t cell acute lymphoblastic leukemiaassociated antigen 1, is induced by the ewings sarcomawilms tumor 1 fusion protein of desmoplastic small round cell tumor am. It affects mainly children and young adults and has a.
Desmoplastic small round cell tumor is a rare but distinct entity with aggressive clinical behavior 1, 2. The hallmark and key genetic driver of dsrct is the ewswt1 gene fusion, which encodes an oncogenic chimeric transcription factor. To the editor we read with great attention the article by tun et al 1 describing a case of advanced desmoplastic small round cell tumor dsrct and discussing its optimal management. Antiangiogenic effects in patients with progressive. Diagnosis desmoplastic small round cell tumor the entity was first described by pathologists william l. Dsrct causes multiple tumors to form in the abdomen and pelvis area, but exactly where it begins usually is not known. A 49yearold japanese man noticed a mass in the right parotid gland. The purpose of this study is to evaluate the clinical, pathologic, and multimodality crosssectional imaging features of a cohort of 94 patients with desmoplastic small round cell tumor dsrct. Genomewide profiling of rare tumors is crucial for improvement of diagnosis, treatment, and, consequently, achieving better outcomes.
The prolonged progressionfree survival period 15 months obtained. It primarily affects children and young adults and is more common in males. Background desmoplastic small round cell tumour dsrct is a rare but highly aggressive soft tissue sarcoma that arises most commonly in the abdominopelvic cavity of males in. An atypical feature reportedly seen in desmoplastic small round cell tumor of the kidney and other viscera is a lack of desmoplastic stroma, as in our patient 15. Dnabinding segment of wt1, the wilms tumor suppressor gene. Desmoplastic small round cell tumor dsrct is a rare type of soft tissue cancer sarcoma that usually begins in the abdomen. Desmoplastic small round cell tumor of parotid gland. Molecular testing for desmoplastic small roundcell tumor is a genetic test that is helpful in aiding a diagnosis of desmoplastic small roundcell tumor. Desmoplastic small round cell tumor dsrct research study. Desmoplastic small round cell tumor is a tumor composed of small round cells associated with marked desmoplasia and multiphenotypic differentiation.
We report a rare case of parotid gland dsrct in a 38yearold man. Immunohistochemical expression of wt1 by desmoplastic small round cell tumor. The desmoplastic small round cell tumor dsrct is a relatively rare malignant tumor that typically involves the abdominal andor pelvic peritoneum of children and. The tumor usually begins and spreads over the surface of the peritoneum 4, 12, 15, 16. Therapeutic trial for patients with ewing sarcoma family. Desmoplastic small round cell tumor dsrct is a rare type of sarcoma arising from mesenchymal cells of abdominal peritoneum that usually develops in male adolescents and young adults. Mar 28, 2018 desmoplastic small round cell tumor dsrct is a rare and aggressive form of sarcoma with the greatest incidence in children, adolescents and young adults. Gender, ethnicity, and treatment based survival were calculated using the kaplanmeier. Less than 200 case reports have been documented in literature so far. It is formed by small, round cancer cells surrounded by scarlike tissue and is often found in the tissue peritoneum that lines the inside of the abdomen and pelvis. Englishlanguage articles published since 1989, when the first case of desmoplastic small round cell tumor of the pleura was.
Potential therapeutic genomic alterations in desmoplastic. Incidence rates were calculated based on sex and ethnicity and compared statistically. The first case of a dsrct was recorded in 1989, and about 200 cases have been diagnosed since then. Connective tissues include fat, muscles, tendons, lymph and blood vessels, and nerves. Sep 18, 20 desmoplastic small round cell tumor dsrct is a rare tumor of adolescents and young adults. Desmoplastic small round cell tumor dsrct is a rare malignant mesenchymal neoplasm that typically affects young patients and presents as large intraabdominal masses. This article is from world journal of surgical oncology, volume 12.
Report of 19 cases of a distinctive type of highgrade polyphenotypic malignancy affecting young. Establishment and characterization of a novel human. The purpose of this poster is to describe the imaging features of desmoplastic small round cell tumour dsrct in the context of the clinical and demographic data. Mar 16, 2020 webpathology is a free educational resource with 10304 high quality pathology images of. Prevention desmoplastic small round cell tumor not known. Less than 100 cases per year are reported in north america. The term small round blue cell is frequently used as a cursory radiologic pathological correlation of aggressive tumors throughout the body. No standard therapy is currently available for patients with dsrct, and dsrct has a very poor prognosis, and its median survival range is from 17 to 25 months, with only a 29% actuarial 3year survival rate and a 5year survival rate of 18%. The lab test results may also be subsequently useful in taking appropriate treatment decisions. Molecular heterogeneity and function of ewswt1 fusion. Gerald wl, miller hk, battifora h, miettinen m, silva eg, rosai j.
Intraabdominal desmoplastic small round cell tumour mimicking. Desmoplastic small round cell tumor dsrct is an aggressive and rare cancer that primarily occurs as masses in the abdomen. Efficacy of onc201 in desmoplastic small round cell tumor. Despite performing around 800 peritonectomy and hipec procedures, we have rarely encountered desmoplastic small round cell tumours dsrct.
Results of multimodal treatment for desmoplastic small round. Desmoplastic small round cell tumor dsrct is an aggressive primitive sarcoma of adolescents and young adults. Abstractdesmoplastic small round cell tumor is a rare malignant tumor that has a poor. It resembles other small round cell tumors as described by gerald and rosai in 1989. In reply we thank mir and colleagues for their thoughtful comments and appreciate the opportunity to respond. Represented tumors include small cell carcinoma, ewing sarcoma, extranodal marginal. Desmoplastic small round cell tumors of the pleura. Pdf desmoplastic small round cell tumor dsrct is a rare, aggressive and. Desmoplastic small round cell tumor dsrct is a primitive sarcoma with a consistent cytogenetic abnormality, t11. Removal of an intraabdominal desmoplastic small round cell. Pdf a case of longterm survival of metastatic desmoplastic small. Molecular testing for desmoplastic small roundcell tumor. Desmoplastic small round cell tumor dsrct is a rare and highly aggressive neoplasm. Management of desmoplastic small round cell tumor dsrct has been challenging because of its rarity and limited prospective data.
Trabectedin for desmoplastic small round cell tumours. Desmoplastic small round cell tumor dsrct is a rare but highly fatal malignancy. Desmoplastic desmoeplastik small round cell tumors are a type of soft tissue cancer that typically begins in the abdomen. Rarely, this type of cancer can occur in other parts of the body. Kate was 29 when she was diagnosed with desmoplastic small round cell tumor at the abdomen. Despite multimodal treatment approaches, the prognosis for dsrct is extremely poor. Desmoplastic small round cell tumor symptoms, diagnosis. The clinical approach to desmoplastic small round cell tumor. The specific organ or tissue type of origin has yet to be identified. Desmoplastic small round cell tumor dsrct is a rare and highly aggressive mesenchymal tumor that develops in the abdominal cavity of young men adults. Desmoplastic small round cell tumor dsrct varied presentation. Intraperitoneal radioimmunotherapy with 1i8h9 for patients with desmoplastic small round cell tumors and other solid tumors involving the peritoneum the safety and scientific validity of this study is the responsibility of the study sponsor and investigators.
Desmoplastic small round cell tumor is a rare malignant tumor that has a poor prognosis. Patients typically present with symptoms of abdominal sarcomatosis. It is formed by small, round cancer cells surrounded by scarlike tissue and is often found in the tissue peritoneum that lines the inside. The radiology of desmoplastic small round cell tumour. Management of desmoplastic small round cell tumor md. The tumor cells were large sized and form irregular nests embedded in abundant desmoplastic stroma. Less frequently, these tumors can be found in the thoracic cavity, intracranially, and hands.
Yoshida a, edgar ma, garcia j, meyers pa, morris cd, panicek dm. Desmoplastic small roundcell tumor medigoo description. A rare aggressive tumor that usually develops in soft tissue and tends to grow to a large size. Desmoplastic small round cell tumor dsrct is a type of softtissue sarcoma that usually develops in the abdomen, but it can form in other parts of the body, as well including the liver, spleen, lymph nodes, spinal cord, large or small intestine, lungs, pelvis, testicles, or bladder. Irinotecan and vincristine for the treatment of refractory. Tell a friend about us, add a link to this page, or visit the webmasters page for free fun content. Desmoplastic small round cell tumor dsrct is a rare soft tissue tumor that generally involves the retroperitoneum, pelvis, omentum and mesentery in younger patients. In the current report, a 14yearold male patient was admitted to the.
This chromosomal translocation generates a chimeric transcript that is formed by fusion of the 5. Desmoplastic small round cell tumor of the abdomen. Desmoplastic small roundcell tumor dsrct is an aggressive and rare cancer that primarily occurs as masses in the abdomen. Alkylator and anthracyclines based regimens are widely used as therapy and an initial response is common. Desmoplastic smallroundcell tumor of the peritoneum. It usually occurs in the abdomen but may also in other parts of the body such as abdominal organs, brain, testicles, ovaries, spinal cord and skull. Therapeutic trial for patients with ewing sarcoma family of tumor and desmoplastic small round cell tumors the safety and scientific validity of this study is the. Other areas affected may include the lymph nodes, the lining of the abdomen, diaphragm, spleen, liver, chest wall, skull, spinal cord, large intestine, small intestine, bladder, brain, lungs, testicles, ovaries, and the pelvis. Desmoplastic small round cell tumour dsrct is a rare, extremely uncommon and highly aggressive variety of. Although the imaging characteristics of desmoplastic small round cell tumor have rarely been described with a renal primary tumor, several case reports describe multiple appearances. Durable responses are exceptionally rare so further systemic. Desmoplastic small round cell tumor dsrct is an aggressive small round cell neoplasm which predominantly occurs intraabdominally in. Incidence and outcomes of desmoplastic small round cell.
It was originally described as a tumor primarily involving the abdominal peritoneum, with. Results of multimodal treatment for desmoplastic small. Pretransplant drugs thiotepa and carboplatin 902 1002. Greg required two because of the extent of his tumor masses.
The clinical presentation is most often marked by a large abdominal andor pelvic mass with peritoneal seeding. Several case reports followed in recent years confirming the unique location and histochemical features of this tumor. Represented tumors include small cell carcinoma, ewing sarcoma, extranodal marginal zone bcell. Case report open access primary desmoplastic small round cell tumor of the duodenum qi liu, nan liu and dexing chen abstract the desmoplastic small round cell tumor dsrct is an extremely rare tumor that mainly affects adolescents and mostly involves the abdominal and pelvic peritoneum. Complete cytoreduction and hipec improves survival in. The term small round blue cell is frequently used as a cursory radiologic.
Herein, we report a 26yearold otherwise healthy female patient who presented with a 1month history of epigastric pain. The cytological diagnosis of this tumor has only been reported in a few cases. A genomic case study of desmoplastic small round cell tumor. Desmoplastic small round cell tumor genetic and rare. Desmoplastic small round cell tumor dsrct is a rare and highly aggressive disease, which mainly affects adolescents and young adults. Desmoplastic small round cell tumor softtissue sarcoma. Desmoplastic small round cell tumor dsrct is a type of cancer. Gender, ethnicity, and treatment based survival were calculated using the kaplanmeier method. Desmoplastic small round cell tumor of the middle ear. Aug 16, 2014 the authors describe a case of desmoplastic small round cell tumor with an atypical immunohistochemical profile and rhabdoidlike tumor cells on electron microscopy. The disease is known to pop up from primitive cells during childhood. Desmoplastic small round cell tumor listed as dsrct. Desmoplastic small round cell tumors symptoms and causes. Peritonectomy and hyperthermic intraperitoneal chemotherapy as.
Wed like to understand how you use our websites in order to improve them. We performed cytoreductive surgery and hyperthermic peritoneal perfusion with chemotherapy hipec using cisplatin cddp for dsrct. Last, in patients with desmoplastic small round cell tumors, mc was associated with more frequent complete remission and longer event free survival. Desmoplastic small round cell tumor how is desmoplastic. Nov 26, 20 desmoplastic small round cell tumour dsrct is a rare but frequently fatal sarcoma, and many of its characteristics still require further clarification. Histologically, it is characterized by islands of uniform small round cells in prominent desmoplastic stroma, and it has a polyimmunophenotypic.
High doses of chemotherapy to shrink the tumor s and prevent new ones from forming. First and foremost, our article 1 is an overview of dsrct in general, not intended for management of the case specifically. Desmoplastic small round cell tumors, or dsrct, are tumors that grow in the abdomen and pelvic area of the body. In the current study, a case of recurrent desmoplastic small round cell tumor dsrct is presented, which was successfully treated by repetitive debulking surgery.
Desmoplastic small round cell peditric ii tumor of the kidney. Immunophenotype of desmoplastic small round cell tumors as. In may 2010, a 39yearold male, with a history of surgical resection of intraabdominal dsrct, visited the ibaraki medical center, tokyo medical university hospital ami, japan. Many other centres have used aggressive combination chemotherapy alkylating chemotherapyp6 protocol, and. Ultrasound examination revealed a solid tumor about 2 cm in diameter. Pdf the term small round blue cell is frequently used as a cursory radiologic pathological correlation of. Pdf thoracic presentations of small round blue cell tumors. Extensive peritoneal metastases are characteristic of this disease. Dsrct is aggressive malignant neoplasm of young male adults and distant metastases occurs at the time of diagnosis 2.
It is usually found in the abdomen belly, but it can also occur in other parts of the body. Wt1 staining reliably differentiates desmoplastic small round cell tumor from ewing sarcomaprimitive neuroectodermal tumor. Effective treatment of apatinib in desmoplastic small round cell tumor. Over time, numerous approaches have been proposed for the treatment of dsrct, and the best results have been obtained with the resection of more than 90% of the tumor. Thoracic presentations of small round blue cell tumors. Intraabdominal desmoplastic small round cell tumor.
The term round cell tumor describes a group of highly aggressive malignant tumors. Although we agree with the authors 1 on the fact that data are scarce on the clinical management of advanced dsrct, we would like to comment on several issues regarding the current knowledge on the. Desmoplastic small round cell tumor dsrct is a rare, biologically aggressive, multifocal primary peritoneal sarcoma that predominantly affects white adolescent boys and young adult men. Desmoplastic small round cell tumors dsrct national. Diagnosis is based on histological analysis of biopsies which typically show small round blue cells in nests separated by an abundant desmoplastic stroma. Intraabdominal desmoplastic small cell tumor 191 the name desmoplastic small cell tumor was initially proposed by gerald and rosai as a separate entity of small round cell tumors 1. Experiences and lessons this case is a diagnostic challenge because of atypical immunohistochemical profile and cytogenetic study is crucial in rendering the correct diagnosis. The tumor has a specific genetic abnormality that helps confirm the diagnosis. We present a pictorial essay of common and uncommon subtypes of small round blue cell tumors in the chest illustrating the characteristic radiologic findings of each lesion. Desmoplastic small round cell tumor dsrct is an extremely uncommon, highly aggressive, and malignant mesenchymal neoplasm of undetermined histogenesis. Although initial management still needs standardization, many centers will use multimodal treatment including intensive chemotherapy, extensive surgical resection followed by radiotherapy. Desmoplastic small round cell tumor of the parotid gland. Desmoplastic small round cell tumors with atypical. Tumors are formed by small, round cancer cells and are surrounded by scarlike tissue.
Desmoplastic small round cell tumor dsrct is a rare, aggressive, and malignant tumor primarily affecting young males. A desmoplastic small round cell tumor dsrct is an extremely rare and highly aggressive cancer that affects adolescents and young adults. Greg orgel desmoplastic small round cell tumordsrct. Apr 25, 2014 desmoplastic small round cell tumour dsrct is a rare sarcoma typically affecting young males and usually widely metastatic at presentation. Desmoplastic small round cell tumor dsrct is an aggressive round cell sarcoma that arises in the abdominal cavitypelvis of young males. I was an ambitious, driven doctor just two years away from finishing my training to become an elderly medicine consultant in the uk. Desmoplastic small round cell tumor dsrct is a soft tissue sarcoma of mesenchymal cell origin that typically presents with multiple intraabdominal tumors and exhibits a multiphenotypic pattern of immunohistochemical staining. Future efforts must focus on cell specific treatments. Kates sarcoma story desmoplastic small round cell tumor. Desmoplastic small round cell tumor dsrct is a rare tumor of adolescents and young adults.
Desmoplastic small round cell tumor dsrct first described by gerald and rosai, is a rare poorly differentiated sarcoma cell of childhood and adolescence that has distinctive histologic, genetic and clinical features. Desmoplastic small round cell tumor dsrct was first described in 1989 by gerald and rosai who described a distinct type of small round blue cell tumor with a predilection for serosal surfaces such as the peritoneum and the tunica vaginalis that affected mostly caucasian males in the second or third decade of life. Desmoplastic small round cell tumors dsrct md anderson. The most common site is the abdominal serosa, although other sites have been described. Together with neuroblastoma and nonhodgkins lymphoma, they form the small or b cell tumors. Dsrct is characterized as a small round blue cells, with fibrosclerotic stroma and abundant extracellular material coexpressing epithelial, mesenchymal. Desmoplastic small round cell tumors are a type of soft tissue sarcoma, which is a type of cancer that forms in the connective tissue of the body. Optimal multimodal treatment for desmoplastic small round. Desmoplastic small round cell tumor dsrct is a very rare mesenchymal tumor that mainly affects teenagers and young adults with a mean age at diagnosis around 2025 years. Case report open access primary desmoplastic small round cell.