Desmoplastic small round cell tumor dsrct is a rare and aggressive mesenchymal malignancy. Durable responses are exceptionally rare so further. Antiangiogenic effects in patients with progressive. It primarily affects children and young adults and is more common in males.
A 14yearold girl presented with intermittent epigastric pain. Desmoplastic small round cell tumors symptoms and causes. A malignant serosa related small round cell tumor with an epithelial growth pattern in a desmoplastic stroma first described by gerald and rosai in 1989 pediatr pathol 1989. We sought to expand its clinicopathologic spectrum. Kate was 29 when she was diagnosed with desmoplastic small round cell tumor at the abdomen. This type of cancer usually begins in the abdomen or pelvis, and does not respond well to treatment. Its diagnosis can be achieved only by immunohistochemistry and cytogenetic studies. A molecular hallmark of dsrct is the ewswt1 reciprocal translocation. Desmoplastic small round cell tumor dsrct is a rare, aggressive, and poorly investigated simple sarcoma with a low frequency of genetic deregulation other than an ewing sarcoma rna binding protein 1 ewsr1wilms tumor suppressor wt1 translocation. A 49yearold japanese man noticed a mass in the right parotid gland. 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.
I was an ambitious, driven doctor just two years away from finishing my training to become an elderly medicine consultant in the uk. Effective treatment of apatinib in desmoplastic small round. Desmoplastic smallroundcell tumor dsrct is an aggressive and rare cancer that primarily occurs as masses in the abdomen. 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. Effective treatment of apatinib in desmoplastic small. Ewing sarcoma and dsrct are treated similarly due to similar oncogene activation pathways, and dsrct has been represented in very limited numbers in sarcoma studies. We present a case of a 10yearold caucasian boy with a desmoplastic small round cell tumor refractory to conventional treatment who exhibited a good response. A 25yearold man was found to have an abnormal shadow during a routine physical examination and was admitted to our hospital. Trabectedin for desmoplastic small round cell tumours. 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. Desmoplastic small round cell tumors alternative treatments. 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 an uncommon, highly aggressive tumor with a predilection for pediatric age groups and young adults.
Desmoplastic small round cell tumors dsrct are aggressive tumors that typically begin in the abdomen or pelvis. Apr 25, 2014 desmoplastic small round cell tumour dsrct is a rare sarcoma typically affecting young males and usually widely metastatic at presentation. Kates sarcoma story desmoplastic small round cell tumor. Durable responses are exceptionally rare so further systemic. The genomics of desmoplastic small round cell tumor. Desmoplastic small round cell tumor dsrct is an aggressive round cell sarcoma that arises in the abdominal cavitypelvis of young males. We used wholeexome sequencing to interrogate six consecutive pretreated dsrcts whose gene expression was previously. It is formed by small, round cancer cells surrounded by scarlike tissue and is often found in the tissue peritoneum that lines the inside. 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.
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 highly aggressive and rare mesenchymal tumor, around 200450 cases have been so described so far 1,2 despite aggressive therapy, median survival ranges from 17 to 25 month 2,8 a 5. There are few reported series to guide clinical therapy. It typically occurs in adolescent and young adult males with a. Molecular testing for desmoplastic small roundcell tumor. Desmoplastic small round cell tumors, or dsrct, are tumors that grow in the abdomen and pelvic area of the body. Cytogenetic abnormalities in an intraabdominal desmoplastic. Desmoplastic small round cell tumor dsrct is a rare and highly aggressive mesenchymal tumor that was first described as a separate identity in 1989 by gerald and rosai. Desmoplastic small roundcell tumor is an uncommon, highly aggressive tumor with a predilection for pediatric age groups and young adults. Desmoplastic small round cell tumor dsrct is a rare type of soft tissue cancer sarcoma that usually begins in the abdomen. N2 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. Less frequently, these tumors can be found in the thoracic cavity, intracranially, and hands.
Immunohistochemical expression of wt1 by desmoplastic small round cell tumor. Desmoplastic small round cell tumors dsrct are a type of rare, soft tissue sarcoma. The most common site is the abdominal serosa, although other sites have been described. Despite aggressive therapy, median survival ranges from.
Nov 28, 2018 desmoplastic small round cell tumor dsrct is a rare, aggressive, and poorly investigated simple sarcoma with a low frequency of genetic deregulation other than an ewing sarcoma rna binding protein 1 ewsr1wilms tumor suppressor wt1 translocation. Desmoplastic smallroundcell tumor dsrct is an extremely rare and highly aggressive malignancy. Primary desmoplastic smallroundcell tumor of the ovary. Despite multiple therapeutic strategies, most patients have resistant disease with very poor survival rates. The clinical presentation is most often marked by a large abdominal andor pelvic mass with peritoneal seeding. A desmoplastic small round cell tumor dsrct is an extremely rare and highly aggressive cancer that affects adolescents and young adults. Several case reports followed in recent years confirming the unique location and histochemical features of this tumor 24. We used wholeexome sequencing to interrogate six consecutive pretreated dsrcts whose gene expression was previously investigated. Patients typically present with symptoms of abdominal sarcomatosis. Primary desmoplastic small round cell tumor of the duodenum. Desmoplastic small round cell tumor dsrct is a type of cancer. Desmoplastic desmoeplastik small round cell tumors are a type of soft tissue cancer that typically begins in the abdomen. Alkylator and anthracyclines based regimens are widely used as therapy and an initial response is common.
Pathology outlines desmoplastic small round cell tumor. The desmoplastic small round cell tumor dsrct is a recently recognized type of primitive sarcoma defined by a predilection for young males, aggressive clinical. Apatinib is a new potent oral smallmolecule tyrosine kinase inhibitor, and targets the intracellular domain of vascular endothelial growth factor receptor 2 vegfr2. Although agent orange has been associated with softtissue sarcoma, an association with desmoplastic small round cell tumor has not been reported. 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. Pdf desmoplastic small roundcell tumor of the pancreas. The tumor usually begins and spreads over the surface of the peritoneum 4, 12, 15, 16. Desmoplastic small round cell tumors dsrct are a type of softtissue sarcoma. Sep 09, 2016 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 dsrct is a rare and aggressive softtissue malignancy. Desmoplastic small round cell tumor dsrct is an aggressive and rare cancer that primarily occurs as masses in the abdomen.
It typically occurs in adolescent and young adult males with a maletofemale ratio of 4. Desmoplastic small round cell tumor dsrct is an aggressive malignant neoplasm that occurs in adolescents and young adults. It is regarded as a kind of highgrade malignancy that spreads and infiltrates into the surrounding tissues and organs. It affects mainly children and young adults and has a. Desmoplastic small round cell tumors dsrct memorial sloan. Current research is limited by the scarcity of this disease. A rare aggressive tumor that usually develops in soft tissue and tends to grow to a large size. Desmoplastic small round cell tumors dsrct md anderson. Management of desmoplastic small round cell tumor md. In this report, we describe a young female who presented with bilateral ovarian masses that mimicked the classic clinical picture of ovarian cancer. Diagnosis is based on histological analysis of biopsies which typically show small round blue cells in nests separated by an abundant desmoplastic stroma.
Desmoplastic small round cell tumor dsrct is a rare and highly aggressive mesenchymal tumor that develops in the abdominal cavity of young men adults. Mechanism of action of trabectedin in desmoplastic small. Desmoplastic small round cell tumor is dependent on the. The most common symptoms include pain or a mass in the abdomen.
It affects mainly children and young adults and has a male predilection. Results of multimodal treatment for desmoplastic small round. Although we agree with the authors1 on the fact that data are scarce on the clinical management of advanced dsrct, we. In the current report, a 55yearold female was admitted in our hospital for evaluation of right eye epiphora and right nasal intermittent bleeding.
Factors affecting overall survival os were assessed. Desmoplastic small roundcell tumor dsrct is an extremely infrequent, aggressive, soft tissue tumor. Desmoplastic small round cell tumor symptoms, diagnosis. Desmoplastic small round cell tumor is dependent on the ews. Connective tissues include fat, muscles, tendons, lymph and blood vessels, and nerves. The majority of patients 90 percent are caucasian males between the ages of 10 and 30. The first case of a dsrct was recorded in 1989, and about 200 cases have been diagnosed since then. Optimal multimodal treatment for desmoplastic small round. 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 peritoneal surface malignancy. Desmoplastic small round blue cell tumors dsrcts originate from a cell with multilineage potential. Only 850 such patients were reported in the medical literature. Desmoplastic small round cell tumor dsrct by fernanda arnaldez, md and david loeb, md, phd also available in chinese, japanese, french, italian and spanish. Although initial management still needs standardization, many centers will use multimodal treatment including intensive chemotherapy, extensive surgical resection followed by radiotherapy. 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. Rarely, this type of cancer can occur in other parts of the body. It is an aggressive and often misdiagnosed neoplasm of children and young adult.
A, the original tumor is composed of irregular nests with small round cells embedded in an abundant desmoplastic stroma, corresponding to desmoplastic small round cell tumor dsrct hematoxylin. A novel ewswt1 gene fusion product in desmoplastic small round cell tumor is a potent transactivator of the insulinlike growth factori receptor igfir gene. Ultrasound examination revealed a solid tumor about 2 cm in diameter. Background and objectives desmoplastic small round cell tumor dsrct is a rare peritoneal surface malignancy. 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. Dsrct is a rare and highly aggressive tumour that usually occurs in males during adolescence and early adulthood. To the editor we read with great attention the article by tun et al1 describing a case of advanced desmoplastic small round cell tumor dsrct and discussing its optimal management. Desmoplastic small round cell tumors dsrct or dsct are rare aggressive cancers of adolescence and early adulthood. The tumor has a specific genetic abnormality that helps confirm the diagnosis. We report a rare case of desmoplastic small round cell tumor, which arose from the left lung.
Primary desmoplastic small round cell tumor of the. Desmoplastic small round cell tumor may involve the paratesticular region as a primary tumor or in a secondary fashion. Desmoplastic small round cell tumors dsrct memorial. According to the histopathologic findings of permanent sections, the tumor was composed of sharply.
Dsrct usually occurs in white adolescent and young men between the ages of ten and 30. It is characterized by a distinct immunohistochemical profile and a recurrent, specific, chromosomal translocation. 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. Desmoplastic small round cell tumor dsrct is a rare disease of children, adolescents and young adults. Desmoplastic small round cell tumor dsrct is a rare malignant sarcoma with poor prognosis due to lack of effective treatments.
Desmoplastic small round cell tumour dsrct is a rare sarcoma typically affecting young males and usually widely metastatic at presentation. Usually affecting young males and presenting as an abdominal mass, the tumor grows along serosal membranes with multiple nodules attached to the peritoneal surface 2. Immunophenotype of desmoplastic small round cell tumors as detected in cases with ewswt1 gene fusion product. Desmoplastic small round cell tumor is a tumor composed of small round cells associated with marked desmoplasia and multiphenotypic differentiation.
Nov 15, 2019 desmoplastic small round cell tumor dsrct is an extremely rare and highly aggressive malignancy. Desmoplastic small round cell tumor genetic and rare. Mar 10, 2019 desmoplastic small round cell tumor is an extremely rare and aggressive cancer that affects mainly adolescents and young adults. 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 of the lung the. Results of multimodal treatment for desmoplastic small. May 18, 2019 desmoplastic small round cell tumor dsrct is a rare soft tissue tumor that generally involves the retroperitoneum, pelvis, omentum and mesentery in younger patients. Desmoplastic small round cell tumor of the parotid gland. Desmoplastic small round cell tumors with atypical.
Desmoplastic small round cell tumor is a rare malignant neoplasm. First described in 1989 2, 3, dsrcts name derives from its distinctive histological findings, which include clusters of undifferentiated, small round blue cells surrounded by abundant desmoplasia. It is of yet unclear origin, but it is assumed to be of a mesothelial origin based on its tendency for widespread metastasis in serosal linings. Only a few hundred cases have been reported in worldwide. This study correlates survival with treatment variables, including aggressive surgical debulking. Wt1 staining reliably differentiates desmoplastic small round cell tumor from ewing sarcomaprimitive neuroectodermal tumor. The desmoplastic small round cell tumor dsrct is an extremely rare tumor that mainly affects adolescents and mostly involves the abdominal and pelvic peritoneum. Dsrct mainly develops in adolescent and young adults with a strong male predominance. Desmoplastic small round cell tumor dsrct is an aggressive, polyphenotypic, malignant tumor occurring predominantly in children and young adults, with a male predominance and an age range spanning the first through fifth decades. Desmoplastic small round cell tumor dsrct is a rare soft tissue tumor that generally involves the retroperitoneum, pelvis, omentum and mesentery in younger patients.
It is usually found in the abdomen belly, but it can also occur in other parts of the body. Desmoplastic small round cell tumor dsrct is a rare and highly aggressive disease, that can be described as a member of the family of small round blue cell tumors. Desmoplastic small round cell tumors occur most often in young men and boys, though they can occur at any age and can also affect women. Despite multimodal treatment approaches, the prognosis for dsrct is extremely poor. A, the original tumor is composed of irregular nests with small round cells embedded in an abundant desmoplastic stroma, corresponding to.
Tumors are formed by small, round cancer cells and are surrounded by scarlike tissue. Irinotecan and vincristine for the treatment of refractory. Desmoplastic small round cell tumor abdomen article pdf available in indian journal of pathology and microbiology 5. 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. Dsrct causes multiple tumors to form in the abdomen and pelvis area, but exactly where it begins usually is not known. Desmoplastic small round cell tumor dsrct is a rare malignancy with poor prognosis that generally involves the peritoneum. Mar 12, 2018 desmoplastic small round cell tumor dsrct is an extremely infrequent, aggressive, soft tissue tumor. Current treatments are not very effective so new active. Potential therapeutic genomic alterations in desmoplastic.
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