Case Report

Congenital Fibrosarcoma of the Bowel: Sonographic Description of a Rare Case of Neonatal Intestinal Obstruction Costanza Bruno, MD,1 Giuliana Caliari, MD,1 Nicola Zampieri, MD,2 Diego Segala, MD,3 Roberto Pozzi-Mucelli, MD1 1

Department of Radiology, University of Verona, P.le LA Scuro 10, 37134 Verona, Italy Department of Pediatric Surgery, University of Verona, P.le LA Scuro 10, 37134 Verona, Italy 3 Department of Histopathology, University of Verona, P.le LA Scuro 10, 37134 Verona, Italy 2

Received 29 October 2012; accepted 9 October 2013

ABSTRACT: A case of localization in the bowel of congenital fibrosarcoma (a rare soft-tissue tumor usually occurring in the extremities) causing intestinal obstruction in a newborn girl is described. A focal thickening of the ileal wall with features mimicking intussusception was identified at sonography; the final diagnosis was achieved by means of molecular analysis after surgical removal of C 2013 Wiley Periodicals, Inc. J Clin the mass. V Ultrasound 42:363–366, 2014; Published online in Wiley Online Library (wileyonlinelibrary.com). DOI: 10.1002/jcu.22117 Keywords: fibrosarcoma; ileum; intussusception; neonatal intestinal obstruction; sonography; pediatrics

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nfantile fibrosarcoma is a rare soft-tissue tumor usually developing in the extremities, in the head, or in the trunk.1,2 Approximately 200 cases occurring in children less than 2 years of age (“congenital fibrosarcomas”) have been described; less than 10% were diagnosed during the newborn period and very few cases, to our knowledge, were localized in the gastrointestinal tract.3–6 We present a congenital fibrosarcoma arising from the terminal ileum with a radiologic presentation mimicking another extremely rare condition (ie, ileo-ileal intussusception).

Correspondence to: C. Bruno C 2013 Wiley Periodicals, Inc. V

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CASE REPORT

A full-term female neonate with normal ultrasound examinations throughout pregnancy presented signs of upper bowel obstruction (abdominal distension, bilious vomiting, and failure to pass meconium) during the second day after birth. A sonographic examination of the abdomen performed using a Sequoia scanner (Siemens Ultrasound, Mountain View, CA) with a 5–8 MHz linear-array transducer revealed a focal thickening of the ileum with a target-like pattern very similar to that usually found in intussusception (Figure 1). Due to the worsening of the patient’s status, a transumbilical laparoscopic exploration was performed, which demonstrated a 2.5-cm-diameter solid mass in the distal ileum; no bowel intussusception was detected. The mass was totally removed through enlargement of the umbilical excision and a termino-terminal direct ileal anastomosis was performed. At the time of the procedure there was no evidence of bowel perforation, lymph nodal involvement, nor additional intra-abdominal findings. At gross pathologic evaluation, the affected segment of the ileum was markedly narrowed with a thickened wall, which contained a whitish mass with transmural spread, mucosal ulceration, focal hemorrhagic areas, and serosal involvement (Figure 2). Histopathologic analysis revealed that the tumor had a high cellularity, composed of spindle cells with a herringbone appearance, arranged in poorly formed, interdigitating fascicles. No 363

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FIGURE 1. (A) Transverse sonogram: the lesion shows a pattern very similar to the “target sign” characteristic of intussusception. (B) The absence of the “pseudokidney sign” on the sagittal sonogram and the uneven thickening of the ileal wall should be clues to the correct diagnosis.

FIGURE 3. Microphotograph of the tumor located within the intestinal wall. It is richly cellular and composed of spindle cells with herringbone appearance. No necrosis is detected (hematoxylin-eosin stain; magnification, 320).

necrosis was detected. The mitotic rate showed 10 mitoses 3 10 H.P.F. (high power field) (Figure 3). Both resection margins were free of involvement. Immunohistochemical tests showed tumor cell reactivity for vimentin and no reactivity for CD 34, CD 117, smooth muscle actin, or desmin. The definitive diagnosis was achieved using molecular analysis (ETV6-NTRK3 translocation) and it was consistent with congenital fibrosarcoma. FIGURE 2. Gross examination of the surgical specimen before (A) and after (B) dissection. (A) The affected ileal segment is unevenly thickened with a markedly narrowed lumen. (B) The mass has a transmural spread with focal hemorrhagic areas (asterisks) and serosal involvement.

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DISCUSSION

Fibrosarcoma in infants and children was first described by Stout in 19627; the term “congenital JOURNAL OF CLINICAL ULTRASOUND

CONGENITAL FIBROSARCOMA OF THE BOWEL: US

fibrosarcoma” applies to cases diagnosed at birth or during the first 2 years of life. The congenital variant differs from fibrosarcoma arising in older children because of its less aggressive behavior1,2 with a metastatic rate of about 10% and a survival rate higher than 90%.1,8 The tumor usually occurs in the extremities, trunk, head, and neck with less frequent localizations in the retroperitoneum, mesentery, and ovaries; six gastrointestinal locations (one gastric, two duodenal, and three ileal) have been described in recent reports.3 Because all of these latter cases presented symptoms of bowel occlusion/perforation, preoperative imaging was very poor, aiming more at the detection of the complications than at the evaluation of the underlying condition.3–6 This—to our knowledge—is the first imaging description of this tumor in such a rare location. As for imaging, congenital fibrosarcoma has to be differentiated from other causes of neonatal congenital obstruction, both intrinsic (ie, atresia, which can involve all gastrointestinal segments, meconium ileus, Hirschsprung disease, malrotation) and extrinsic: cystic duplications (either by compression on the adjacent segment or by inducing intussusception), idiopathic intussusceptions, and other extremely rare malignancies arising from the bowel.9,10 Ultrasound can play a pivotal role, because intrinsic conditions cannot usually be identified, while duplication cysts are typically anechoic masses with a three-layered wall10 and a characteristic pattern (target-like on axial scans; “pseudokidney” or “sandwich” sign on longitudinal scans) is associated with intussusception.10 The tumor described in this case report showed sonographic features quite similar to intussusception (Figure 1). However, the “target” was not a perfect one due to the uneven thickening of the ileal wall; moreover, the outer layer was extremely hypoechoic (opposite to what is usually found in an intussuscepted bowel), and on longitudinal scans no “pseudokidney” or “sandwich” signs were detected. Furthermore, ileo-ileal intussusception without an underlying disease is very rare. Congenital fibrosarcoma should be distinguished from the other mesenchymal malignancies of the neonatal bowel, such as gastrointestinal stromal tumors, leiomyosarcoma, spindle cell rhabdomyosarcoma, and myofibromatosis.11 A definitive diagnosis on the basis of imaging findings is almost impossible to achieve, because all these tumors spread from mucosa to serosa and this makes them share VOL. 42, NO. 6, JULY/AUGUST 2014

very similar sonographic features; age group and clinical presentation should be considered. The definitive diagnosis can be achieved only by means of molecular analysis proving a translocation (ETV6-NTRK3),12 which is characteristic of infantile fibrosarcoma, although it may also occur in congenital mesoblastic nephroma and in some lymphoid leukemias. Complete surgical resection is generally the treatment of choice for this neoplasm. If the margins of the resection are disease-free, there is no need for additional chemotherapy or radiation therapy; chemotherapy can be used when surgical removal is not possible because it would affect vital structures or result in an incomplete procedure. The case we report is unique in that the presence of neoplasia was suspected on the basis of an imaging procedure; the laparoscopic approach proved useful in identifying and better understanding this condition. Once the neoplasia was identified, surgical resection was performed following all the safety measures involved in standard oncologic surgery. The complete removal of the tumor and the absence of additional masses or lymph nodes made a histologic examination during surgery not necessary. Congenital fibrosarcoma can be suspected in a newborn presenting with intestinal obstruction when preoperative sonography shows hypoechoic tumoral infiltration of the bowel wall. Explorative laparoscopy is suggested when radiologic findings cannot lead to a definitive diagnosis.

REFERENCES 1. Islam S, Soldes OS, Ruiz R, et al. Primary colonic congenital infantile fibrosarcoma presenting as meconium peritonitis. Pediatr Surg Int 2008;24:621. 2. McCarville MB, Kaste SC, Pappo AS. Soft-tissue malignancies in infancy. AJR Am J Roentgenol 1999;173:973. 3. Rizkalla H, Wildgrove H, Quinn F, et al. Congenital fibrosarcoma of the ileum: case report with molecular confirmation and literature review. Fetal Pediatr Pathol 2011;30:156. 4. Srigley JR, Mancer K. Solitary intestinal fibromatosis with perinatal bowel obstruction. Pediatr Pathol 1984;2:249. 5. Numanoglu A, Davies J, Millar AJ, et al. Congenital solitary intestinal fibromatosis. Eur J Pediatr Surg 2002;12:337. 6. Shima Y, Ikegami E, Takechi N, et al. Congenital fibrosarcoma of the jejunum in a premature infant with meconium peritonitis. Eur J Pediatr Surg 2003;13:134. 7. Stout AP. Fibrosarcoma in infants and children. Cancer 1962;15:1028.

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BRUNO ET AL 8. van Niekerk ML, Nel WA, Slavik T. Infantile fibrosarcoma of the ileum presenting with congenital bowel obstruction. J Pediatr Surg 2010;45:461. 9. Vinocur DN, Lee EY, Eisenberg RL. Neonatal intestinal obstruction. AJR Am J Roentgenol 2012; 198:W1. 10. Chavhan GB, Masrani S, Thakkar H, et al. Sonography in the diagnosis of pediatric gastrointestinal obstruction. J Clin Ultrasound 2004;32:190.

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11. Cypriano MS, Jenkins JJ, Pappo AS, et al. Pediatric gastrointestinal stromal tumors and leiomyosarcoma. Cancer 2004;101:39. 12. Buccoliero AM, Castiglione F, Rossi Degl’Innocenti D, et al. Congenital/infantile fibrosarcoma of the colon: morphologic, immunohistochemical, molecular, and ultrastructural features of a relatively rare tumor in an extraordinary localization. J Pediatr Hematol Oncol 2008;30:723.

JOURNAL OF CLINICAL ULTRASOUND

Congenital fibrosarcoma of the bowel: sonographic description of a rare case of neonatal intestinal obstruction.

A case of localization in the bowel of congenital fibrosarcoma (a rare soft-tissue tumor usually occurring in the extremities) causing intestinal obst...
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