Clinical caseOptimal treatment with systemic chemotherapy, complete surgical excison and hyperthermic intraperitoneal chemotherapy for a desmoplastic small round cell tumor in an adult male patientTraitement optimal par chimiothérapie systémique, chirurgie de résection avec chimiothérapie intrapéritonéale hyperthermique chez un patient présentant une tumeur desmoplastique à cellules rondes du péritoine
Introduction
Desmoplastic small round cell tumor (DSRCT) is a rare entity with less than 300 cases reported in literature. DSRCT is characterized by specific clinical, histological and molecular patterns and occurred preferentially in children or young patients during their second or third decade of life with a male to female ratio of 4:1 [1], [2], [3], [4], [5], [6]. This neoplasm often involves the abdominal cavity with numerous peritoneal implants with a tendency to lymph node involvement and haematogenous metastasis dissemination, most frequently to the liver. Moreover, extra abdominal extent have been also reported on non-mesothelial tissue i.e. for bone, lung, salivary gland, ethmoid sinus or posterior cranial fossa [7]. The prognosis of the disease is poor and most of patients die within 3 years [2].
Clinically, DSRCT is commonly characterized by large abdominal masses leading to abdominal distension and pain, and in some cases to compression of adjacent organs such as intestinal obstruction, hydronephrosis and urinary/erectile dysfunction. At pathological examination, the tumor forms nests or undifferentiated small round cells embedded in desmoplastic stroma. Tumor cells are usually mitotically active with a complex immunophenotype proteins expression including epithelial, muscular and neural differentiation. The stroma is primarily fibroblastic with variable collagen depositis. At cytogenetic examination, the EWS-WT1 gene fusion has been identified as a specific molecular alteration of DSRCT [2], [8], [9].
Regarding the rare incidence of the disease, therapeutic options of DSRCT are not well codified and no curative treatment has been yet documented. However, it has been shown that an optimal multimodal therapy using combined systemic chemotherapy and complete surgical excision of the masses is the only strategy that led to a long-term control of the disease [10], [11], [12], [13], [14], [15]. Although a complete cytoreductive surgery followed by hyperthermic intraperitoneal (HI) chemotherapy is considered as the best treatment in adults with resectable carcinomatosis secondary to ovarian, mesothelioma, appendiceal and colorectal carcinomas [16], the usefulness of this specific procedure in DSRCT remains unknown. To our knowledge, this multimodal therapy including IH chemotherapy has been only reported in two pediatric and 4 adult patients with DSRCT but the impact on survival was not demonstrated [1], [17]. Here, we report and discuss a case of a 51-year old adult patient presenting with a DSRCT treated with aggressive therapy based on systemic chemotherapy, complete cytoreductive surgery associated with HI chemotherapy, resulting in a a long-term survival of 4 years.
Section snippets
Case
A 51-year old man was referred in our unit in October 2005 for an isolated abdominal carcinomatosis with undetermined origin. Main complaints were abdominal distension, diarrhoea and pain due to multiple palpable abdominal masses. Biological blood tests and common serum tumour markers level were not normal (CEA, CA19-9, CA-125, alpha fetoprotein). The abdominal CT scan exanimation revealed extensive peritoneal mass and ascites without distant metastasis or retroperitoneal lymphadenopathy. No
Discussion
DSRCT is a very rare entity, which is mainly reported, in young male patient with abdominopelvic malignancy. The disease is commonly diagnosed during the second or third decade of life and there were very few cases of DSRCT reported in adult patients. The histopathology and immunocytochemistry of the disease have been well documented with the presence, as in our case, of a specific genetic abnormality characterized by a reciprocal translocation EWS-WT1. Prognosis of DSRCT is poor and no
Conflict of interest
All authors have no conflicts of interest for this manuscript.
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