Clinical case
Optimal 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

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Summary

Desmoplastic small round cell tumor (DSRCT) is a very rare but aggressive malignancy. It is usually observed in males during adolescent and early adulthood. The tumor primarily affects the intra-abdominal serosal and is characterized by distinctive histological and immunophenotypic features and by the specific reciprocal translocation EWS-WT1. Prognosis is mainly poor with a mean survival approximately of 2.5 years. However, long-term survivals have been reported using aggressive multimodal therapy based on complete surgical excision, systemic chemotherapy and radiotherapy. The addition of hyperthermic intraperitoneal chemotherapy in the multimodal approach has been reported in very few cases but no effect on survival has been clearly demonstrated. We report 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 hyperthermic intraperitoneal chemotherapy, resulting in a long term survival of 4 years.

Résumé

Les tumeurs desmoplastiques à cellules rondes sont rares qui touchent préférentiellement les enfants et adultes jeunes masculins. Ces tumeurs sont grevées d’un pronostic sombre avec une survie moyenne de 2,5 ans environ. Des cas de survie prolongée ont été cependant rapportés lors de l’utilisation de thérapeutiques combinées utilisant la chirurgie de résection, la chimiothérapie systémique et la radiothérapie. Le bénéfice clinique de la chimiothérapie intrapéritonéale hyperthermique dans cette stratégie n’es pas connu. Nous rapportons la cas d’une tumeur desmoplastique à cellules rondes du péritoine survenant chez un patient âgé de 51 ans traitée par l’association d’une chimiothérapie systémique, une chirurgie complète et une chimiothérapie intra-péritonéale hyperthermique permettant une survie prolongée de plus de quatre ans à ce jour.

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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