Surg Today DOI 10.1007/s00595-014-0955-8
CASE REPORT
Malignant rhabdoid tumor of the small intestine in adults: a brief review of the literature and report of a case Costantino Voglino • Maximilian Scheiterle • Giulio Di Mare Federico Mariani • Alfonso De Stefano • Alessandro Ginori • Lorenzo De Franco • Francesco Ferrara
•
Received: 4 March 2014 / Accepted: 7 May 2014 Ó Springer Japan 2014
Abstract A malignant rhabdoid tumor was first described as a subtype of Wilms tumor in 1978. The most frequent location of these tumors is the kidney, and they are common in childhood. The extrarenal localization of these tumors has been described mainly in the central nervous system (called atypical teratoid–rhabdoid tumors), liver, soft tissues and colon. Localization in the small intestine is uncommon and since the 1990s, only a few cases of malignant rhabdoid tumors in the small intestine have been reported. This tumor is very aggressive and the prognosis is poor. We herein present our personal experience with a rhabdoid tumor of the jejunum in a 76-year-old male, and also provide an analysis of the cases of malignant rhabdoid tumor of the small intestine previously described in the literature as for a brief review. We also compared the previous reports and our present case to try to identify prognostic factors. Keywords Prognosis
Introduction A malignant rhabdoid tumor (MRT) is a subtype of Wilms’ tumor, first described by Beckwith and Palmer in 1978. [1]. It is most common in children, usually with a renal localization [2]. Adult forms are uncommon, and they are characterized by a poor prognosis [3]. The extrarenal variants are very aggressive, and have most often been located in the central nervous system, liver, soft tissues and colon [4]. Localization in the small intestine is very rare; in the literature there have been only a few reports describing such tumors. We, therefore, perform a systematic review of the literature regarding the cases of small intestinal MRT. A thorough search of the literature revealed 10 cases of primary rhabdoid tumor of the small intestine. We also herein describe our personal experience with a rare case of primary malignant rhabdoid tumor localized at the jejunum in an adult.
Rhabdoid tumor Small intestine Review
C. Voglino M. Scheiterle G. Di Mare (&) F. Mariani A. De Stefano L. De Franco F. Ferrara Department of Medicine, Surgery and Neurosciences, Unit of Surgical Oncology, University of Siena, Siena, Italy e-mail: [email protected] C. Voglino e-mail: [email protected] C. Voglino Azienda Ospedaliera Universitaria Senese Viale Bracci, 53100 Siena, Italy A. Ginori Department of Medicine, Surgery and Neurosciences, Unit of Pathology, University of Siena, Siena, Italy
Personal experience The patient, a 76-year-old male, was admitted to our institute from the Unit of Gastroenterology of our hospital, where he was referred complaining of diffuse abdominal pain that had lasted approximately 1 month and weight loss of about 15 kg in the last 6 months. The clinical history of the patient included transurethral resection of the prostate for benign prostatic hyperplasia, arterial hypertension and an aorto-bisiliac prosthesis for aortic dissection. Upon admission, he underwent abdominal ultrasound, which showed a mass in the proximal small intestine. Esophagogastroduodenojejunal endoscopy with a pediatric colonoscopic tube was performed, and a vegetant stenosant neoplasm with ulcerated necrotic areas of the first jejunal loop was observed. The biopsies showed malignant
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Surg Today
epithelial neoplasia with positivity for cytokeratin. The patient underwent a thoraco-abdominal CT scan, which revealed a large neoplasm of 9 cm in diameter involving the wall of the first jejunal loop; several metastatic lymph nodes infiltrating the wall of the third duodenal portion were also identified, but no hepatic or pulmonary metastatic lesions were observed (Fig. 1). A blood sample showed moderate leukocytosis (white blood count 14.34 9 109/l) and a serum iron level of 17 lg/dl. The blood levels of tumor markers were within the normal limit. The patient underwent surgery and a resection of the third and fourth duodenal portions and of the first jejunal loops for a total of 25 cm; a cholecystectomy was also carried out with external drainage of the common bile duct. The reconstruction was characterized by a duodenojejunal laterolateral hand-sewn anastomosis. The post-operative course was characterized by ischemic necrosis of the left colon, which was surgically treated with a total colectomy with terminal ileostomy. The patient was then discharged, but subsequently died due to early relapse and rapid tumor progression 2 months after the first operation.
vascularization and areas of necrosis and hemorrhage, infiltrating all the visceral wall and the surrounding soft tissues. The neoplastic cells were characterized by a round or polygonal shape, with wide eosinophilic cytoplasm, anisonucleosis and prominent nucleoli. Some atypical mitoses were also noted. The mesenteric lymph nodes involved in the specimen were infiltrated by the tumor (Fig. 3a, b). The immunophenotyping showed positivity for vimentin and cytokeratin, and negative staining for CD20, CD3, synaptophysin, HMB45, MelanA, S100 and CD117. These finding helped the pathologists to exclude the diagnoses of melanoma, GIST, lymphoma and myogenic tumor (Fig. 3c, d). Genetic analysis Approximately, one-third of the affected patients have a genetic predisposition to develop tumors due to a germline SMARCB1 alteration [5]. Therefore, a genetic analysis for mutations of this gene was performed in these patients and on their first-degree relatives, but no relevant alterations were identified.
Gross pathology The specimen was a 25-cm-long segment of the small intestine (jejunum), which harbored an irregularly shaped and ulcerated tumor, measuring 9 9 3.5 cm. The proximal margin was 1.5 cm and the distal margin was 19 cm. The infiltration involved the peri-intestinal soft tissues, although the tumor had destructively penetrated through the intestinal wall, inducing ulceration of the mucosa (Fig. 2). Microscopy and immunohistochemistry The histopathological examination revealed an undifferentiated neoplasma, which was ulcerated and had high
Fig. 1 CT scan of the tumoral mass involving the first jejunal loop, with graphical representation of its maximum diameter
123
Materials and methods A systematic review of the literature was performed. Two authors separately searched PubMed for small bowel primary malignant rhabdoid tumors in adults, both finding the same results, which were 10 cases reported from different authors. The data from the reports were cataloged. The cases described that were not from the small bowel were excluded. A non-linear regression between the clinic pathological characteristics and survival was also performed. A p value [0.05 was considered to be statistically significant. The survival analyses for this article were
Fig. 2 Photo of the specimen, characterized by a 25-cm-long segment of the small intestine (jejunum), with a harbored and irregularly shaped tumor, ulcerated, measuring 9 9 3.5 cm
Surg Today Fig. 3 Histological and immunohistochemical features: a, b the neoplasm was constituted by polygonal atypical cells with abundant eosinophilic cytoplasm, hyperchromatic nuclei and prominent nucleoli (HE stain); c the neoplasm showed strong and diffuse positivity for vimentin; d the neoplastic cells were also focally positive for cytokeratins
performed using the SPSS software program (SPSS, Inc., Chicago, IL, USA).
Results The principal characteristics of all cases are summarized in Table 1. Of these ten cases, five originated from the jejunum, two from the ileum, one from the duodenum and three from an otherwise not specified region of the small intestine. All but one of the cases were male. The mean age was 62.9 (range 52–81) years. The mean maximum size of the principal tumor was 7.2 cm (range 3–10 cm). The median survival was 90 days. The non-linear regression analysis of the dimension of the tumors according to survival was statistically significant (p = 0.019) (Fig. 4). No significant correlations were found between the age at diagnosis and survival or between the site of the tumor and survival (p [ 0.05).
Discussion Malignant rhabdoid tumor was first described as a subtype of Wilms’ tumor by Beckwith and colleague in the 1970s [1]. MRT often occurs in children, frequently affecting patients less than 2 years of age. The adult forms are uncommon [2].
The tumor was given the name ‘‘rhabdoid’’ because the cells microscopically resemble rhabdomyoblasts but neither the ultrastructural or immunohistochemical features support a myogenic origin of this tumor. The most common localization site is the kidney, with the extrarenal localization of this tumor being mainly reported in the central nervous system (called atypical teratoid–rhabdoid tumors), liver, soft tissues and colon. GI tract localization is uncommon, and the prognosis of the affected patient is poor, because of the aggressive nature of this disease, which is characterized by early diffuse metastasis, with death generally occurring within 6 months from initial diagnosis [3]. As noted above, the majority of extrarenal rhabdoid tumors occur in children. The cases with GI localization seem to be more common in the elderly population. A malignant extrarenal rhabdoid tumor of the small intestine had never been reported before 1998, when Chen et al. [6] reported the first case of a jejunal mass measuring 11 cm in diameter, with multiple hepatic and lymph nodes metastasis, in a 54-year-old male. The patient died 2 weeks after resection due to multiple organ failure. To date, there have been a few systematic reviews of malignant rhabdoid tumors of the small intestine. However, the authors of those studies did not perform an accurate analysis of all cases described in the literature. The last two reviews [3, 4] were incomplete, because they did not describe two cases [7, 8]. The mean age of the patients in the previous reports was 62.9 (range 52–81) years. Our
123
Surg Today Table 1 Malignant rhabdoid tumor of the small intestine in adults: the clinic pathological features of published cases Case
References
Age
Gender
Survival
Location
Max size
Clinical presentation
Metastases
1
Abdulkader et al. [13]
56
Male
Postoperative death
Ileum
10 cm
Dysuria
Not described
2
Abdulkader et al. [13]
58
Male
18 months
Small intestine
6 cm
Abdominal pain, subileus
Liver, both adrenal glands
3
Chen et al. [6]
54
Male
1 month
Jejunum
10 cm
GI bleeding
Regional/liver/peritoneum, pelvic cavity, sigmoid surface
4
Lee et al. [14]
58
Male
11 days
Duodenum
5 cm
GI bleeding
Small intestine, mediastinal lymph nodes
5
Al Nafussi and Donnel [15]
65
Male
3 months
Jejunum
8 cm
Occlusion, weight loss
Adrenal and cervical lymph nodes
6
Amrikachi et al. [16]
70
Female
10 months
Small intestine
6 cm
Anemia
Retroperitoneum
7
Kunze et al. [17]
52
Male
2 weeks
Jejunum
4, 5 cm
GI bleeding, weight loss
Chest wall, both adrenal glands, lymph nodes, lungs
8
Salamanca et al. [7]
70
Male
9 months
Jejunum
9 cm
Abdominal pain, weight loss
Peripancreatic, mediastinal and right supraclavicular lymph nodes, left adrenal gland, pleura, and both lobes of the liver
9
Salwa S. S. et al. [8]
52
Male
5 years
Small intestine
3 cm
GI bleeding
Not described
10
Toth et al. [3]
81
Male
7 months
Ileum
9 cm
Subileus, GI bleeding
Peritoneum, abdominal wall, ileum
11
Present Case
76
Male
2 months
Jejunum
9 cm
Abdominal pain, weight loss
Regional lymph nodes
patient was 76-year-old male, the second oldest case described in the literature. Salamanca et al. described a 9-cm jejunal perforated mass with multiple lymphadenopathies and a metastatic liver lesion. The patient underwent surgery and six cycles of chemotherapy, but he died 9 months after the operation. Salwa et al. described a case of small malignant rhabdoid tumor of the small bowel of 3 cm in diameter, with a metachronous adenocarcinoma of the lung diagnosed 5 years later. There is evidence that these types of tumors may be associated with genotypic alterations. Parham et al. [9] reviewed 42 cases of extrarenal rhabdoid tumors, and demonstrated a monosomy 22 chromosomal aberration. There is a general consensus on the genetic abnormalities on the basis of this pathology: renal malignant rhabdoid tumors and atypical teratoid–rhabdoid tumors show mutations of the SMARCB1 (hSNF5/INI1) gene localized on 22q11 [10]. Other recent studies on rhabdoid tumors of the brain, kidney, or soft tissues revealed germ-line alterations of the SMARCB1 gene in one-third of the patients [5, 11, 12]. In our case, there was no evidence of this mutation; however, we suggest that a genetic analysis should be performed in patients with this type of tumor, particularly when more than one member of the same family is affected because, in rare cases, a parent-to-child transmission was
123
observed [5]. The poor survival of the patients demonstrated the aggressive behavior of the neoplasm. The median survival of all cases was only 90 days. The exception was the case described by Salwa et al., who presented a polypoid mass of 3 cm in diameter. In our case, the survival was very poor and the patient died 2 months after the operation, thus corroborating the lethal characteristic of this type of tumor. The mean maximum size of the principal mass described was of 7.2 cm (range 3–10 cm). The dimension of the mass described in our case was at the upper limits of the range (9 cm). In our analysis, there was a significant correlation between the maximum size of the principal tumor and survival with poorer survival noted for larger tumor (p \ 0.05) (Fig. 4). We emphasize that the tumor is frequently already larger at the time of diagnosis. This is due to the clinical presentation of the disease where the early stages are typically asymptomatic. The clinical manifestations at diagnosis showed that the principal presentation is GI bleeding, followed by weight loss and intestinal occlusion/subocclusion. These characteristics indicate that early signs and symptoms are not generally evaluable, and when the disease becomes clinically relevant, it is often at an advanced stage. We also performed an analysis of the correlation between the age at diagnosis and the survival of the
Surg Today
Fig. 4 Non-linear (logarithmic) regression of maximum diameter of tumors according to survival (p = 0.019)
patients, and did not find any statistically significant correlation. There was also no significant correlation found between the site of the principal mass and the survival. The chemotherapeutic regimens used for the treatment of MRT included various combinations of cisplatin, cyclophosphamide, adriamycin and VP-16; however, the rarity of the disease has made it difficult to determine adequate protocols. Some authors suggest that the use of actinomycin may improve the survival of patients [18]. In summary, herein, we reported a rare case of a malignant rhabdoid tumor of the jejunum that was 9 cm in diameter, with typical immunohistochemical characteristics compared to those described in the literature. This type of tumor has a poor prognosis, and our analysis of the described cases showed a significant correlation between the maximum size of the principal mass and the survival of the patients. We also recommend performing genetic studies in the family of the patients affected by this tumor, because some previous studies have suggested that a genetic correlation may exist.
References 1. Beckwith JB, Palmer NF. Histopathology and prognosis of Wilms tumor results from the first National Wilms’ Tumor Study. Cancer. 1978;41:1937–48.
2. Peng HQ, Stanek AE, Teichberg S, Shepard B, Kahn E. Malignant rhabdoid tumor of the kidney in an adult: a case report and review of the literature. Arch Pathol Lab Med. 2003;127(9): 371–3. 3. To´th L, Nemes Z, Gomba S, Asztalos L, Molna´r C, Andra´s C, et al. Primary rhabdoid cancer of the ileum: a case report and review of the literature. Pathol Res Pract. 2010;206(2):110–5. 4. Malhotra Y, Fitzgerald TN, Jubinsky PT, Harper H, Silva CT, Zambrano E, et al. A unique case of rhabdoid tumor presenting as hemoperitoneum in an infant. J Pediatr Surg. 2011;46(1):247–51. 5. Eaton KW, Tooke LS, Wainwright LM, Judkins AR, Biegel JA. Spectrum of SMARCB1/INI1 mutations in familial and sporadic rhabdoid tumors. Pediatr Blood Cancer. 2011;56(1):7–15. 6. Chen Y, Jung SM, Chao TC. Case report: malignant rhabdoid tumor of the small intestine in an adult a case report with immunohistochemical and ultrastructural findings. Dig Dis Sci. 1998;43(5):975–9. 7. Salamanca J, Nevado M, Martı´nez-Gonza´lez MA, Pe´rez-Espejo G, Pinedo F. Undifferentiated carcinoma of the jejunum with extensive rhabdoid features. Apmis. 2008;116(10):941–6. 8. Sheikh SS, Al-Khatti AA, Amr SS. Metachronus malignant rhabdoid tumor of the ileum and adenocarcinoma of lung: a unique case report. Ann Diagn Pathol. 2008;12(1):57–61. 9. Parham DM, Weeks DA, Beckwith JB. The clinicopathologic spectrum of putative extrarenal rhabdoid tumors. An analysis of 42 cases studied with immunohistochemistry or electron microscopy. Am J Surg Pathol. 1994;18(10):1010. 10. Royer-Pokora B. Genetics of pediatric renal tumors. Pediatr Nephrol. 2013;28(1):13–23. 11. Versteege I, Se´venet N, Lange J, Rousseau-Merck MF, Ambros P, Handgretinger R, et al. Truncating mutations of hSNF5/INI1 in aggressive paediatric cancer. Nature. 1998;394(6689):203–6. 12. Imbalzano AN, Jones SN. Snf5 tumor suppressor couples chromatin remodeling, checkpoint control, and chromosomal stability. Cancer Cell. 2005;7(4):294–5. 13. Abdulkader I, Sua´rez-Pen˜aranda JM, Antu´nez J, Otero M, Pazos G, Escudero B, et al. Report of 2 cases of rhabdoid tumor originating in the small intestine. Revista espan˜ola de enfermedades digestivas: organo oficial de la Sociedad Espan˜ola de Patologı´a Digestiv. 2002;94(6):369. 14. Lee JR, Chamberlain CR Jr, Gerrity RG, McKee EM, Gadacz TR, Rao RN. Malignant rhabdoid tumor of the duodenum. Ann Diagn Pathol. 1998;2(1):25–30. 15. Al-Nafussi A, O’Donnell M. Poorly differentiated adenocarcinoma with extensive rhabdoid differentiation: clinicopathological features of two cases arising in the gastrointestinal tract. Pathol Int. 1999;49(2):160–3. 16. Amrikachi M, Ro JY, Ordonez NG, Ayala AG. Adenocarcinomas of the gastrointestinal tract with prominent rhabdoid features. Ann Diagn Pathol. 2002;6(6):357–63. 17. Kunze E, Heidrich G, Bru¨ck W, Schacht M. Malignant rhabdoid tumours of the jejunum, chest wall and adrenal glands. Histopathology. 2007;50(5):659–62. 18. Horazdovsky R, Manivel CJ, Cheng EY. Surgery and actinomycin improve survival in malignant rhabdoid tumor. Sarcoma. 2013;2013:315170.
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CASE REPORT
Malignant rhabdoid tumor of the small intestine in adults: a brief review of the literature and report of a case Costantino Voglino • Maximilian Scheiterle • Giulio Di Mare Federico Mariani • Alfonso De Stefano • Alessandro Ginori • Lorenzo De Franco • Francesco Ferrara
•
Received: 4 March 2014 / Accepted: 7 May 2014 Ó Springer Japan 2014
Abstract A malignant rhabdoid tumor was first described as a subtype of Wilms tumor in 1978. The most frequent location of these tumors is the kidney, and they are common in childhood. The extrarenal localization of these tumors has been described mainly in the central nervous system (called atypical teratoid–rhabdoid tumors), liver, soft tissues and colon. Localization in the small intestine is uncommon and since the 1990s, only a few cases of malignant rhabdoid tumors in the small intestine have been reported. This tumor is very aggressive and the prognosis is poor. We herein present our personal experience with a rhabdoid tumor of the jejunum in a 76-year-old male, and also provide an analysis of the cases of malignant rhabdoid tumor of the small intestine previously described in the literature as for a brief review. We also compared the previous reports and our present case to try to identify prognostic factors. Keywords Prognosis
Introduction A malignant rhabdoid tumor (MRT) is a subtype of Wilms’ tumor, first described by Beckwith and Palmer in 1978. [1]. It is most common in children, usually with a renal localization [2]. Adult forms are uncommon, and they are characterized by a poor prognosis [3]. The extrarenal variants are very aggressive, and have most often been located in the central nervous system, liver, soft tissues and colon [4]. Localization in the small intestine is very rare; in the literature there have been only a few reports describing such tumors. We, therefore, perform a systematic review of the literature regarding the cases of small intestinal MRT. A thorough search of the literature revealed 10 cases of primary rhabdoid tumor of the small intestine. We also herein describe our personal experience with a rare case of primary malignant rhabdoid tumor localized at the jejunum in an adult.
Rhabdoid tumor Small intestine Review
C. Voglino M. Scheiterle G. Di Mare (&) F. Mariani A. De Stefano L. De Franco F. Ferrara Department of Medicine, Surgery and Neurosciences, Unit of Surgical Oncology, University of Siena, Siena, Italy e-mail: [email protected] C. Voglino e-mail: [email protected] C. Voglino Azienda Ospedaliera Universitaria Senese Viale Bracci, 53100 Siena, Italy A. Ginori Department of Medicine, Surgery and Neurosciences, Unit of Pathology, University of Siena, Siena, Italy
Personal experience The patient, a 76-year-old male, was admitted to our institute from the Unit of Gastroenterology of our hospital, where he was referred complaining of diffuse abdominal pain that had lasted approximately 1 month and weight loss of about 15 kg in the last 6 months. The clinical history of the patient included transurethral resection of the prostate for benign prostatic hyperplasia, arterial hypertension and an aorto-bisiliac prosthesis for aortic dissection. Upon admission, he underwent abdominal ultrasound, which showed a mass in the proximal small intestine. Esophagogastroduodenojejunal endoscopy with a pediatric colonoscopic tube was performed, and a vegetant stenosant neoplasm with ulcerated necrotic areas of the first jejunal loop was observed. The biopsies showed malignant
123
Surg Today
epithelial neoplasia with positivity for cytokeratin. The patient underwent a thoraco-abdominal CT scan, which revealed a large neoplasm of 9 cm in diameter involving the wall of the first jejunal loop; several metastatic lymph nodes infiltrating the wall of the third duodenal portion were also identified, but no hepatic or pulmonary metastatic lesions were observed (Fig. 1). A blood sample showed moderate leukocytosis (white blood count 14.34 9 109/l) and a serum iron level of 17 lg/dl. The blood levels of tumor markers were within the normal limit. The patient underwent surgery and a resection of the third and fourth duodenal portions and of the first jejunal loops for a total of 25 cm; a cholecystectomy was also carried out with external drainage of the common bile duct. The reconstruction was characterized by a duodenojejunal laterolateral hand-sewn anastomosis. The post-operative course was characterized by ischemic necrosis of the left colon, which was surgically treated with a total colectomy with terminal ileostomy. The patient was then discharged, but subsequently died due to early relapse and rapid tumor progression 2 months after the first operation.
vascularization and areas of necrosis and hemorrhage, infiltrating all the visceral wall and the surrounding soft tissues. The neoplastic cells were characterized by a round or polygonal shape, with wide eosinophilic cytoplasm, anisonucleosis and prominent nucleoli. Some atypical mitoses were also noted. The mesenteric lymph nodes involved in the specimen were infiltrated by the tumor (Fig. 3a, b). The immunophenotyping showed positivity for vimentin and cytokeratin, and negative staining for CD20, CD3, synaptophysin, HMB45, MelanA, S100 and CD117. These finding helped the pathologists to exclude the diagnoses of melanoma, GIST, lymphoma and myogenic tumor (Fig. 3c, d). Genetic analysis Approximately, one-third of the affected patients have a genetic predisposition to develop tumors due to a germline SMARCB1 alteration [5]. Therefore, a genetic analysis for mutations of this gene was performed in these patients and on their first-degree relatives, but no relevant alterations were identified.
Gross pathology The specimen was a 25-cm-long segment of the small intestine (jejunum), which harbored an irregularly shaped and ulcerated tumor, measuring 9 9 3.5 cm. The proximal margin was 1.5 cm and the distal margin was 19 cm. The infiltration involved the peri-intestinal soft tissues, although the tumor had destructively penetrated through the intestinal wall, inducing ulceration of the mucosa (Fig. 2). Microscopy and immunohistochemistry The histopathological examination revealed an undifferentiated neoplasma, which was ulcerated and had high
Fig. 1 CT scan of the tumoral mass involving the first jejunal loop, with graphical representation of its maximum diameter
123
Materials and methods A systematic review of the literature was performed. Two authors separately searched PubMed for small bowel primary malignant rhabdoid tumors in adults, both finding the same results, which were 10 cases reported from different authors. The data from the reports were cataloged. The cases described that were not from the small bowel were excluded. A non-linear regression between the clinic pathological characteristics and survival was also performed. A p value [0.05 was considered to be statistically significant. The survival analyses for this article were
Fig. 2 Photo of the specimen, characterized by a 25-cm-long segment of the small intestine (jejunum), with a harbored and irregularly shaped tumor, ulcerated, measuring 9 9 3.5 cm
Surg Today Fig. 3 Histological and immunohistochemical features: a, b the neoplasm was constituted by polygonal atypical cells with abundant eosinophilic cytoplasm, hyperchromatic nuclei and prominent nucleoli (HE stain); c the neoplasm showed strong and diffuse positivity for vimentin; d the neoplastic cells were also focally positive for cytokeratins
performed using the SPSS software program (SPSS, Inc., Chicago, IL, USA).
Results The principal characteristics of all cases are summarized in Table 1. Of these ten cases, five originated from the jejunum, two from the ileum, one from the duodenum and three from an otherwise not specified region of the small intestine. All but one of the cases were male. The mean age was 62.9 (range 52–81) years. The mean maximum size of the principal tumor was 7.2 cm (range 3–10 cm). The median survival was 90 days. The non-linear regression analysis of the dimension of the tumors according to survival was statistically significant (p = 0.019) (Fig. 4). No significant correlations were found between the age at diagnosis and survival or between the site of the tumor and survival (p [ 0.05).
Discussion Malignant rhabdoid tumor was first described as a subtype of Wilms’ tumor by Beckwith and colleague in the 1970s [1]. MRT often occurs in children, frequently affecting patients less than 2 years of age. The adult forms are uncommon [2].
The tumor was given the name ‘‘rhabdoid’’ because the cells microscopically resemble rhabdomyoblasts but neither the ultrastructural or immunohistochemical features support a myogenic origin of this tumor. The most common localization site is the kidney, with the extrarenal localization of this tumor being mainly reported in the central nervous system (called atypical teratoid–rhabdoid tumors), liver, soft tissues and colon. GI tract localization is uncommon, and the prognosis of the affected patient is poor, because of the aggressive nature of this disease, which is characterized by early diffuse metastasis, with death generally occurring within 6 months from initial diagnosis [3]. As noted above, the majority of extrarenal rhabdoid tumors occur in children. The cases with GI localization seem to be more common in the elderly population. A malignant extrarenal rhabdoid tumor of the small intestine had never been reported before 1998, when Chen et al. [6] reported the first case of a jejunal mass measuring 11 cm in diameter, with multiple hepatic and lymph nodes metastasis, in a 54-year-old male. The patient died 2 weeks after resection due to multiple organ failure. To date, there have been a few systematic reviews of malignant rhabdoid tumors of the small intestine. However, the authors of those studies did not perform an accurate analysis of all cases described in the literature. The last two reviews [3, 4] were incomplete, because they did not describe two cases [7, 8]. The mean age of the patients in the previous reports was 62.9 (range 52–81) years. Our
123
Surg Today Table 1 Malignant rhabdoid tumor of the small intestine in adults: the clinic pathological features of published cases Case
References
Age
Gender
Survival
Location
Max size
Clinical presentation
Metastases
1
Abdulkader et al. [13]
56
Male
Postoperative death
Ileum
10 cm
Dysuria
Not described
2
Abdulkader et al. [13]
58
Male
18 months
Small intestine
6 cm
Abdominal pain, subileus
Liver, both adrenal glands
3
Chen et al. [6]
54
Male
1 month
Jejunum
10 cm
GI bleeding
Regional/liver/peritoneum, pelvic cavity, sigmoid surface
4
Lee et al. [14]
58
Male
11 days
Duodenum
5 cm
GI bleeding
Small intestine, mediastinal lymph nodes
5
Al Nafussi and Donnel [15]
65
Male
3 months
Jejunum
8 cm
Occlusion, weight loss
Adrenal and cervical lymph nodes
6
Amrikachi et al. [16]
70
Female
10 months
Small intestine
6 cm
Anemia
Retroperitoneum
7
Kunze et al. [17]
52
Male
2 weeks
Jejunum
4, 5 cm
GI bleeding, weight loss
Chest wall, both adrenal glands, lymph nodes, lungs
8
Salamanca et al. [7]
70
Male
9 months
Jejunum
9 cm
Abdominal pain, weight loss
Peripancreatic, mediastinal and right supraclavicular lymph nodes, left adrenal gland, pleura, and both lobes of the liver
9
Salwa S. S. et al. [8]
52
Male
5 years
Small intestine
3 cm
GI bleeding
Not described
10
Toth et al. [3]
81
Male
7 months
Ileum
9 cm
Subileus, GI bleeding
Peritoneum, abdominal wall, ileum
11
Present Case
76
Male
2 months
Jejunum
9 cm
Abdominal pain, weight loss
Regional lymph nodes
patient was 76-year-old male, the second oldest case described in the literature. Salamanca et al. described a 9-cm jejunal perforated mass with multiple lymphadenopathies and a metastatic liver lesion. The patient underwent surgery and six cycles of chemotherapy, but he died 9 months after the operation. Salwa et al. described a case of small malignant rhabdoid tumor of the small bowel of 3 cm in diameter, with a metachronous adenocarcinoma of the lung diagnosed 5 years later. There is evidence that these types of tumors may be associated with genotypic alterations. Parham et al. [9] reviewed 42 cases of extrarenal rhabdoid tumors, and demonstrated a monosomy 22 chromosomal aberration. There is a general consensus on the genetic abnormalities on the basis of this pathology: renal malignant rhabdoid tumors and atypical teratoid–rhabdoid tumors show mutations of the SMARCB1 (hSNF5/INI1) gene localized on 22q11 [10]. Other recent studies on rhabdoid tumors of the brain, kidney, or soft tissues revealed germ-line alterations of the SMARCB1 gene in one-third of the patients [5, 11, 12]. In our case, there was no evidence of this mutation; however, we suggest that a genetic analysis should be performed in patients with this type of tumor, particularly when more than one member of the same family is affected because, in rare cases, a parent-to-child transmission was
123
observed [5]. The poor survival of the patients demonstrated the aggressive behavior of the neoplasm. The median survival of all cases was only 90 days. The exception was the case described by Salwa et al., who presented a polypoid mass of 3 cm in diameter. In our case, the survival was very poor and the patient died 2 months after the operation, thus corroborating the lethal characteristic of this type of tumor. The mean maximum size of the principal mass described was of 7.2 cm (range 3–10 cm). The dimension of the mass described in our case was at the upper limits of the range (9 cm). In our analysis, there was a significant correlation between the maximum size of the principal tumor and survival with poorer survival noted for larger tumor (p \ 0.05) (Fig. 4). We emphasize that the tumor is frequently already larger at the time of diagnosis. This is due to the clinical presentation of the disease where the early stages are typically asymptomatic. The clinical manifestations at diagnosis showed that the principal presentation is GI bleeding, followed by weight loss and intestinal occlusion/subocclusion. These characteristics indicate that early signs and symptoms are not generally evaluable, and when the disease becomes clinically relevant, it is often at an advanced stage. We also performed an analysis of the correlation between the age at diagnosis and the survival of the
Surg Today
Fig. 4 Non-linear (logarithmic) regression of maximum diameter of tumors according to survival (p = 0.019)
patients, and did not find any statistically significant correlation. There was also no significant correlation found between the site of the principal mass and the survival. The chemotherapeutic regimens used for the treatment of MRT included various combinations of cisplatin, cyclophosphamide, adriamycin and VP-16; however, the rarity of the disease has made it difficult to determine adequate protocols. Some authors suggest that the use of actinomycin may improve the survival of patients [18]. In summary, herein, we reported a rare case of a malignant rhabdoid tumor of the jejunum that was 9 cm in diameter, with typical immunohistochemical characteristics compared to those described in the literature. This type of tumor has a poor prognosis, and our analysis of the described cases showed a significant correlation between the maximum size of the principal mass and the survival of the patients. We also recommend performing genetic studies in the family of the patients affected by this tumor, because some previous studies have suggested that a genetic correlation may exist.
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