- Email: [email protected]
Infantile fibrosarcoma of the intestine: A report of two cases and literature review
Accepted Manuscript Infantile Fibrosarcoma of the Intestine: A Report of Two Cases and Literature Review Jason P. Sulkowski , MD Kathleen Nicol , MD Mehul V. Raval , MD MS Nicholas Yeager , MD Bhuvana Setty , MD Jonathan I. Groner , MD Jennifer H. Aldrink , MD PII:
S2213-5766(14)00080-3
DOI:
10.1016/j.epsc.2014.06.003
Reference:
EPSC 231
To appear in:
Journal of Pediatric Surgery Case Reports
Received Date: 4 April 2014 Revised Date:
28 May 2014
Accepted Date: 1 June 2014
Please cite this article as: Sulkowski JP, Nicol K, Raval MV, Yeager N, Setty B, Groner JI, Aldrink JH, Infantile Fibrosarcoma of the Intestine: A Report of Two Cases and Literature Review, Journal of Pediatric Surgery Case Reports (2014), doi: 10.1016/j.epsc.2014.06.003. This is a PDF file of an unedited manuscript that has been accepted for publication. As a service to our customers we are providing this early version of the manuscript. The manuscript will undergo copyediting, typesetting, and review of the resulting proof before it is published in its final form. Please note that during the production process errors may be discovered which could affect the content, and all legal disclaimers that apply to the journal pertain.
ACCEPTED MANUSCRIPT
Infantile Fibrosarcoma of the Intestine: A Report of Two Cases and Literature Review Jason P. Sulkowski MD1, Kathleen Nicol MD2, Mehul V. Raval MD MS1, Nicholas Yeager MD3, Bhuvana Setty, MD3, Jonathan I. Groner MD1, Jennifer H. Aldrink MD1 1
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Department of Surgery, Nationwide Children’s Hospital, Columbus, OH, 43205 Department of Pathology, Nationwide Children’s Hospital, Columbus, OH, 43205 3 Department of Hematology & Oncology, Nationwide Children’s Hospital, Columbus, OH, 43205 2
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Running Title: Infantile fibrosarcoma of the intestine
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Jennifer H. Aldrink, MD Assistant Professor of Clinical Surgery Division of Pediatric Surgery Nationwide Children’s Hospital 700 Children’s Drive ED-320 Columbus, OH 43205 [email protected] Phone: 614-722-0440 Fax: 614-722-3903
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Correspondence:
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Abstract Infantile fibrosarcoma (IF) is a rare tumor presenting in infants and young children that most commonly develops in the extremities. Intestinal IF has been rarely described, with all previous cases presenting
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with obstruction, perforation, or both. We present two cases of intestinal IF recently managed at our institution. The first was a previously healthy 4-month old female with an incidentally discovered abdominal mass. This tumor was found to arise from the jejunum with no additional visceral
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involvement. The second was a 15-day old female with a distal small bowel mass that resulted in an ileal obstruction. Pathologic evaluation of both tumors revealed a myxoid spindle cell histology, and genetic
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analyses demonstrated the t(12;15) translocation, confirming IF. We discuss the presentations of these patients, and describe the recommended treatment strategies for patients with intestinal IF.
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Keywords: infantile fibrosarcoma; small bowel tumor; asymptomatic abdominal mass
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Introduction Infantile fibrosarcoma (IF) is a rare, non-rhabdomyosarcomatous soft tissue sarcoma that typically presents in infants and children before 5 years of age.(1-3) Most tumors arise from the
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extremities or the trunk, although a small number of case reports describing IF arising from the bowel have been documented (Table 1).(4-13) These cases have all presented with intestinal obstruction or perforation.(5-13) We present here two cases of small bowel infantile fibrosarcoma, one of which is the
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first reported presentation as an asymptomatic, incidentally discovered abdominal mass.
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Case Report – Patient 1
A previously healthy 4 month old female was noted to have an abdominal mass by her primary care provider at a routine well-child visit. Her prenatal course had been unremarkable and she was delivered at term by Caesarean-section for breech position. She had been eating well and gaining appropriate weight. On physical examination she had a palpable, firm, non-tender mass occupying the
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right hemi-abdomen, without any identifiable lymphadenopathy or other pertinent findings. An ultrasound was obtained identifying a heterogeneous mass of unclear origin, appearing to be distinct from the liver, kidneys, and spleen. Further cross-sectional imaging with computed tomography of the chest,
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abdomen, and pelvis identified a heterogeneous right-sided abdominal mass measuring 6.9 x 8.1 x 8.3 cm in size, possibly arising from the ovary (Figure 1). Tumor markers were obtained and included alpha
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fetoprotein (77.1 ng/mL; reference <87 ng/mL) (14), beta-human chorionic gonadotropin (<2.0 mIU/mL; reference <10mIU/mL), and urine catecholamines (vanillylmandelic acid to creatinine ratio: 9.4; homovanillic acid to creatinine ratio: 24.6; references: <20.1 and <30.1, respectively), all of which were within age-based normal limits. Surgical consultation was obtained, and she underwent exploration of her abdomen via a Pfannenstiel skin incision. Clear peritoneal fluid was collected and sent for cytology. Upon visual inspection, all solid organs including ovaries appeared normal. The small bowel was eviscerated and the mass was identified arising from the mid-jejunum along the anti-mesenteric surface. This portion of the
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jejunum was resected with 3 cm margins and a primary stapled anastomosis was performed (Figure 2). Her post-operative course was uneventful and she was discharged home on post-operative day 3. Subsequent pathology described a myxoid spindle cell neoplasm primarily invading the
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muscularis propria with a mitotic count of 5 per 10 high power fields (HPF) and negative margins (Figure 3). Immunohistochemistry (IHC) was weakly positive for smooth muscle actin (SMA) and CD117. Reverse transcriptase – polymerase chain reaction (RT-PCR) was positive for the t(12;15) translocation
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that is commonly identified in IF. There were no tumor cells observed in the peritoneal fluid. Postoperative positron emission tomography computed tomography (PET-CT) did not identify residual tumor,
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involvement of lymph nodes, or metastatic disease. In the setting of negative margins and the absence of residual or metastatic disease, close observation without adjuvant therapy was deemed the most appropriate course. Her follow up will consist of physical exam and serial imaging for at least two years to monitor for tumor recurrence.
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Case Report – Patient 2
A 12-day old term infant with no pregnancy or vaginal delivery complications was admitted for poor feeding, abdominal distension, and dehydration. An abdominal x-ray demonstrated a distal small
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bowel obstruction, which was confirmed by an upper gastrointestinal contrast study. She was taken to the operating room for abdominal exploration, and was found to have a distal ileal mass resulting in
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obstruction and focal intestinal ischemia. An ileocecectomy was performed with a primary anastomosis. No other masses or abnormalities were observed during complete exploration of the abdomen. Her postoperative course was marked by slow progress tolerating oral feedings and she was discharged home on post-operative day 9.
Pathologic evaluation demonstrated a 3.3 x 3.2 x 4.5 cm mass that was located at the ileocecal valve (Figure 4). It was composed of proliferating spindle cells forming fascicles that invaded through the cecal subserosa and extended along the subserosa of the ileum and appendix, with a mitotic count of 6 per 10 HPF. IHC was negative for all markers evaluated (ALK1, myogenin, beta catenin, CD117, smooth
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muscle actin and muscle specific actin). Fluorescent in situ hybridization analysis demonstrated the t(12;15) translocation. Post-operative imaging did not demonstrate any residual intra-abdominal tumor,
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lymphadenopathy, or evidence of distant spread. Again, close observation without adjuvant therapy was determined to be the most appropriate course.
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Discussion
IF is an extremely rare malignancy affecting infants and young children and is characterized by a
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rapidly growing invasive mass. Although it most commonly presents in the extremities, it has been known to arise in virtually all other areas of the body.(4) Intra-abdominal IF is particularly rare and most cases tend to arise from soft tissue structures rather than bowel or solid organs. There have been few case reports of IF involving either the small intestine or colon, and these were all identified due to either extrinsic bowel obstruction or perforation (Table 1).(5-13) Furthermore, these patients were nearly all
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identified at parturition or within the first several days of life, similar to the second patient described in our report. However, there are no prior reports of an intestinal IF presenting as an uncomplicated abdominal mass as was the case in our first patient.
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The differential diagnosis for an infant with a solid abdominal mass includes neuroblastoma, Wilms tumor, hepatoblastoma, rhabdomyosarcoma, and lymphoma. With respect to tumors arising from
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the small intestine, in infants these are most typically leiomyomas, leiomyosarcomas, or other tumors of mesenchymal origin, all of which are extremely uncommon.(15) Evaluation of an abdominal mass begins with radiographic imaging to evaluate the source of the mass and also to determine the presence of metastatic spread both locally and at distant sites. Tumor markers can aid with diagnosis and post-therapeutic surveillance for some malignancies including hepatoblastoma and neuroblastoma. In the first case presented, preoperative imaging did not demonstrate lymphadenopathy, local invasion, or distant spread, and all tumor markers were normal. Therefore, some
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variant of a sarcomatous tumor seemed plausible, and the preoperative surgical plan was to undergo abdominal exploration and perform a gross total resection. The typical pathologic appearance of IF includes spindle cells with many blood vessels arranged
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in a hemangiopericytoma-like pattern. However, this tumor is marked by its histologic heterogeneity and overlap with a number of other tumors and masses, including congenital mesoblastic nephroma and hemangioma.(16, 17) IHC often shows positivity for vimentin and a lack of markers associated with
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myogenic or vascular tissue. Importantly, the t(12;15) translocation, which causes ligand-independent activation of a tyrosine kinase leading to unchecked cell proliferation, has been identified in cases of IF
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and has since become a significant finding in establishing the diagnosis.(18)
Complete surgical resection is the treatment of choice for IF when reasonably feasible.(19) These tumors rarely demonstrate lymphatic spread so lymph node sampling is unnecessary.(20) Because IF generally demonstrates an excellent response to chemotherapy with sarcoma based regimens, the use of neoadjuvant chemotherapy has been recommended in some cases in order to minimize the need for
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mutilating resections and amputations.(4, 20) However, given its tendency toward complicated presentations, IF arising from the intestine is unlikely to allow for preoperative therapy to be considered. The previously reported cases of IF arising from bowel have all reported good outcomes, despite their
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complicated initial presentations which precluded any systematic preoperative evaluation (Table 1). None of these patients, including the two described here, received adjuvant therapy following resection
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and there have been no follow-up reports of recurrence. In conclusion, we report two cases of a rarely seen IF located within the small bowel. Unlike all previous reports of IF arising from bowel, one of our patients did not present with obstruction or perforation, but rather as an incidental finding at a routine well-child appointment. Although extremely uncommon, IF should be in the differential for a mass arising from the bowel. If negative margins are achieved with surgical resection, adjuvant chemotherapy can be avoided in the absence of metastatic disease. Even in cases presenting with obstruction or perforation, disease-free survival is excellent.
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References 1.
Chung EB, Enzinger FM. Infantile fibrosarcoma. Cancer 1976;38:729-39.
2.
Soule EH, Pritchard DJ. Fibrosarcoma in infants and children: a review of 110 cases. Cancer.
3.
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1977;40:1711-21. Cecchetto G, Carli M, Alaggio R, Dall'Igna P, Bisogno G, Scarzello G, et al. Fibrosarcoma in
pediatric patients: results of the Italian Cooperative Group studies (1979-1995). J Surg Oncol.
4.
SC
2001;78:225-31.
Sulkowski JP, Raval MV, Browne M. Margin status and multimodal therapy in infantile
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fibrosarcoma. Pediatr Surg Int 2013;29:771-6. 5.
Wright ES. Pancreaticoduodenectomy in infancy: a case report. Surgery 1971;69:389-92.
6.
Shearburn EW, Teja K, Botero LM, Shaw A. Pancreaticoduodenectomy in the treatment of
congenital fibrosarcoma of the duodenum. J Pediatr Surg 1975;10:801-6. 7.
Sherman MP, Neustein HB. Congenital spindle-cell neoplasms of the intestine: a case report and
8.
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literature review. Am J Pediatr Hematol Oncol 1985;7:380-4.
Shima Y, Ikegami E, Takechi N, Migita M, Hayashi Z, Araki T, et al. Congenital fibrosarcoma of
the jejunum in a premature infant with meconium peritonitis. Eur J Pediatr Surg 2003;13:134-6. Buccoliero AM, Castiglione F, Rossi Degl'Innocenti D, Maio V, Taddei A, Sardi I, et al.
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9.
Congenital/Infantile fibrosarcoma of the colon: morphologic, immunohistochemical, molecular, and
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ultrastructural features of a relatively rare tumor in an extraordinary localization. J Pediatr Hematol Oncol 2008;30:723-7. 10.
Islam S, Soldes OS, Ruiz R, Geiger JD. Primary colonic congenital infantile fibrosarcoma
presenting as meconium peritonitis. Pediatr Surg Int 2008;24:621-3. 11.
Niekerk MLv, Nel WA, Slavik T. Infantile fibrosarcoma of the ileum presenting with congenital
bowel obstruction. J Pediatr Surg 2010;45:461-2.
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12.
Rizkalla H, Wildgrove H, Quinn F, Capra M, O'Sullivan MJ. Congenital fibrosarcoma of the
ileum: case report with molecular confirmation and literature review. Fetal Pediatr Pathol 2011;30:15660. Kim HY, Cho YH, Byun SY, Park KH. A case of congenital infantile fibrosarcoma of sigmoid
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13.
colon manifesting as pneumoperitoneum in a newborn. J Korean Med Sci 2013;28:160-3. 14.
Blohm ME, Vesterling-Horner D, Calaminus G, Gobel U. Alpha-1 fetoprotein (AFP) reference
15.
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values in infants up to 2 years of age. Pediatr Hematol Oncol 1998; 15:135-42.
Ince E, Oguzkurt P, Canpolat ET, Temiz A, Hicsonmez A. Congenital leiomyoma of the distal
16.
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ileum associated with ileal atresia: a case report. J Pediatr Surg 2013;48:e33-5.
Hu Z, Chou PM, Jennings LJ, Arva NC. Infantile fibrosarcoma-a clinical and histologic mimicker
of vascular malformations: case report and review of the literature. Pediatr Dev Pathol 2013;16:357-63. 17.
Russell H, Hicks MJ, Bertuch AA, Chintagumpala M. Infantile fibrosarcoma: clinical and
histologic responses to cytotoxic chemotherapy. Pediatr Blood Cancer 2009;53:23-7. Rubin BP, Chen CJ, Morgan TW, Xiao S, Grier HE, Kozakewich HP, et al. Congenital
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18.
mesoblastic nephroma t(12;15) is associated with ETV6-NTRK3 gene fusion: cytogenetic and molecular relationship to congenital (infantile) fibrosarcoma. Am J Pathol 1998;153:1451-8. Cofer BR, Vescio PJ, Wiener ES. Infantile fibrosarcoma: complete excision is the appropriate
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19.
treatment. Ann Surg Oncol 1996;3:159-61. Parida L, Fernandez-Pineda I, Uffman JK, Davidoff AM, Krasin MJ, Pappo A, et al. Clinical
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20.
management of infantile fibrosarcoma: a retrospective single-institution review. Pediatr Surg Int. 2013;29:703-8.
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Figure Legends Figure 1. Computed tomographic image of intra-abdominal mass seen on pre-operative evaluation for Patient 1.
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Figure 2. (a) Segment of jejunum from Patient 1with tumor [8x5.5x5.5 cm] arising from anti-mesenteric surface. (b) Cut surface showing a bulging surface composed of firm white-tan whorled fibrous tissue. Figure 3. Spindled cell tumor from Patient 1 with fascicular appearance and scattered blood vessels (Hematoxylin & Eosin, 10x)
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Figure 4. Distal ileum, cecum, and proximal ascending colon from Patient 2 with tumor [3.3x3.2x4.5 cm] tan-yellow mass located at the ileocecal valve.
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Table 1. Previously reported cases of intestinal infantile fibrosarcoma. Presentation
Location
Treatment/Outcome
16 months
M
Vomiting without obstruction
Duodenum
Pancreaticoduodenectomy, well at 24 months
Shearburn, et al., 1975(6)
1 day
F
Obstruction
Duodenum
Pancreaticoduodenectomy, well at 14 months
Sherman, et al., 1985(7)
1 day
M
Obstruction
Ileum
Resection, well at 3 years
Shima, et al., 2003(8)
1 day
F
Perforation, meconium peritonitis
Buccoliero, et al., 2008(9)
3 days
M
Islam, et al., 2008(10)
0 days
M
van Niekerk, et al., 2010(11)
2 days
M
Rizkalla, et al., 2011(12)
5 days
M
Kim, et al., 2013(13)
2 days
Ascending colon
Ileocolectomy, well at 12 months
Meconium peritonitis
Descending colon
Resection, well at 5 years
Obstruction
Ileum
Ileocecectomy, well at 9 months
Perforation
Ileum
Resection, well at 12 months
M
Pneumoperitoneum
Sigmoid colon
Sigmoid colectomy, well at 1 year
4 months
F
Asymptomatic abdominal mass
Jejunum
Resection, full recovery
F
Obstruction
Ileum
Ileocecectomy, full recovery
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15 days
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Present study – Patient 2
Resection, full recovery
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Present study – Patient 1
Jejunum
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Wright, et al., 1971(5)
Age
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Gender
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Study
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Highlights
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Infantile fibrosarcoma is a rare tumor that infrequently arises from the bowel. Previously reported cases presented with bowel obstruction or perforation. Of the two cases here, one presented with obstruction and one was asymptomatic. Both tumors were completely resected and the long-term prognosis is excellent.
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-
S2213-5766(14)00080-3
DOI:
10.1016/j.epsc.2014.06.003
Reference:
EPSC 231
To appear in:
Journal of Pediatric Surgery Case Reports
Received Date: 4 April 2014 Revised Date:
28 May 2014
Accepted Date: 1 June 2014
Please cite this article as: Sulkowski JP, Nicol K, Raval MV, Yeager N, Setty B, Groner JI, Aldrink JH, Infantile Fibrosarcoma of the Intestine: A Report of Two Cases and Literature Review, Journal of Pediatric Surgery Case Reports (2014), doi: 10.1016/j.epsc.2014.06.003. This is a PDF file of an unedited manuscript that has been accepted for publication. As a service to our customers we are providing this early version of the manuscript. The manuscript will undergo copyediting, typesetting, and review of the resulting proof before it is published in its final form. Please note that during the production process errors may be discovered which could affect the content, and all legal disclaimers that apply to the journal pertain.
ACCEPTED MANUSCRIPT
Infantile Fibrosarcoma of the Intestine: A Report of Two Cases and Literature Review Jason P. Sulkowski MD1, Kathleen Nicol MD2, Mehul V. Raval MD MS1, Nicholas Yeager MD3, Bhuvana Setty, MD3, Jonathan I. Groner MD1, Jennifer H. Aldrink MD1 1
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Department of Surgery, Nationwide Children’s Hospital, Columbus, OH, 43205 Department of Pathology, Nationwide Children’s Hospital, Columbus, OH, 43205 3 Department of Hematology & Oncology, Nationwide Children’s Hospital, Columbus, OH, 43205 2
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Running Title: Infantile fibrosarcoma of the intestine
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Jennifer H. Aldrink, MD Assistant Professor of Clinical Surgery Division of Pediatric Surgery Nationwide Children’s Hospital 700 Children’s Drive ED-320 Columbus, OH 43205 [email protected] Phone: 614-722-0440 Fax: 614-722-3903
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Correspondence:
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Abstract Infantile fibrosarcoma (IF) is a rare tumor presenting in infants and young children that most commonly develops in the extremities. Intestinal IF has been rarely described, with all previous cases presenting
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with obstruction, perforation, or both. We present two cases of intestinal IF recently managed at our institution. The first was a previously healthy 4-month old female with an incidentally discovered abdominal mass. This tumor was found to arise from the jejunum with no additional visceral
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involvement. The second was a 15-day old female with a distal small bowel mass that resulted in an ileal obstruction. Pathologic evaluation of both tumors revealed a myxoid spindle cell histology, and genetic
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analyses demonstrated the t(12;15) translocation, confirming IF. We discuss the presentations of these patients, and describe the recommended treatment strategies for patients with intestinal IF.
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Keywords: infantile fibrosarcoma; small bowel tumor; asymptomatic abdominal mass
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Introduction Infantile fibrosarcoma (IF) is a rare, non-rhabdomyosarcomatous soft tissue sarcoma that typically presents in infants and children before 5 years of age.(1-3) Most tumors arise from the
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extremities or the trunk, although a small number of case reports describing IF arising from the bowel have been documented (Table 1).(4-13) These cases have all presented with intestinal obstruction or perforation.(5-13) We present here two cases of small bowel infantile fibrosarcoma, one of which is the
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first reported presentation as an asymptomatic, incidentally discovered abdominal mass.
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Case Report – Patient 1
A previously healthy 4 month old female was noted to have an abdominal mass by her primary care provider at a routine well-child visit. Her prenatal course had been unremarkable and she was delivered at term by Caesarean-section for breech position. She had been eating well and gaining appropriate weight. On physical examination she had a palpable, firm, non-tender mass occupying the
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right hemi-abdomen, without any identifiable lymphadenopathy or other pertinent findings. An ultrasound was obtained identifying a heterogeneous mass of unclear origin, appearing to be distinct from the liver, kidneys, and spleen. Further cross-sectional imaging with computed tomography of the chest,
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abdomen, and pelvis identified a heterogeneous right-sided abdominal mass measuring 6.9 x 8.1 x 8.3 cm in size, possibly arising from the ovary (Figure 1). Tumor markers were obtained and included alpha
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fetoprotein (77.1 ng/mL; reference <87 ng/mL) (14), beta-human chorionic gonadotropin (<2.0 mIU/mL; reference <10mIU/mL), and urine catecholamines (vanillylmandelic acid to creatinine ratio: 9.4; homovanillic acid to creatinine ratio: 24.6; references: <20.1 and <30.1, respectively), all of which were within age-based normal limits. Surgical consultation was obtained, and she underwent exploration of her abdomen via a Pfannenstiel skin incision. Clear peritoneal fluid was collected and sent for cytology. Upon visual inspection, all solid organs including ovaries appeared normal. The small bowel was eviscerated and the mass was identified arising from the mid-jejunum along the anti-mesenteric surface. This portion of the
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jejunum was resected with 3 cm margins and a primary stapled anastomosis was performed (Figure 2). Her post-operative course was uneventful and she was discharged home on post-operative day 3. Subsequent pathology described a myxoid spindle cell neoplasm primarily invading the
RI PT
muscularis propria with a mitotic count of 5 per 10 high power fields (HPF) and negative margins (Figure 3). Immunohistochemistry (IHC) was weakly positive for smooth muscle actin (SMA) and CD117. Reverse transcriptase – polymerase chain reaction (RT-PCR) was positive for the t(12;15) translocation
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that is commonly identified in IF. There were no tumor cells observed in the peritoneal fluid. Postoperative positron emission tomography computed tomography (PET-CT) did not identify residual tumor,
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involvement of lymph nodes, or metastatic disease. In the setting of negative margins and the absence of residual or metastatic disease, close observation without adjuvant therapy was deemed the most appropriate course. Her follow up will consist of physical exam and serial imaging for at least two years to monitor for tumor recurrence.
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Case Report – Patient 2
A 12-day old term infant with no pregnancy or vaginal delivery complications was admitted for poor feeding, abdominal distension, and dehydration. An abdominal x-ray demonstrated a distal small
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bowel obstruction, which was confirmed by an upper gastrointestinal contrast study. She was taken to the operating room for abdominal exploration, and was found to have a distal ileal mass resulting in
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obstruction and focal intestinal ischemia. An ileocecectomy was performed with a primary anastomosis. No other masses or abnormalities were observed during complete exploration of the abdomen. Her postoperative course was marked by slow progress tolerating oral feedings and she was discharged home on post-operative day 9.
Pathologic evaluation demonstrated a 3.3 x 3.2 x 4.5 cm mass that was located at the ileocecal valve (Figure 4). It was composed of proliferating spindle cells forming fascicles that invaded through the cecal subserosa and extended along the subserosa of the ileum and appendix, with a mitotic count of 6 per 10 HPF. IHC was negative for all markers evaluated (ALK1, myogenin, beta catenin, CD117, smooth
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muscle actin and muscle specific actin). Fluorescent in situ hybridization analysis demonstrated the t(12;15) translocation. Post-operative imaging did not demonstrate any residual intra-abdominal tumor,
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lymphadenopathy, or evidence of distant spread. Again, close observation without adjuvant therapy was determined to be the most appropriate course.
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Discussion
IF is an extremely rare malignancy affecting infants and young children and is characterized by a
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rapidly growing invasive mass. Although it most commonly presents in the extremities, it has been known to arise in virtually all other areas of the body.(4) Intra-abdominal IF is particularly rare and most cases tend to arise from soft tissue structures rather than bowel or solid organs. There have been few case reports of IF involving either the small intestine or colon, and these were all identified due to either extrinsic bowel obstruction or perforation (Table 1).(5-13) Furthermore, these patients were nearly all
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identified at parturition or within the first several days of life, similar to the second patient described in our report. However, there are no prior reports of an intestinal IF presenting as an uncomplicated abdominal mass as was the case in our first patient.
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The differential diagnosis for an infant with a solid abdominal mass includes neuroblastoma, Wilms tumor, hepatoblastoma, rhabdomyosarcoma, and lymphoma. With respect to tumors arising from
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the small intestine, in infants these are most typically leiomyomas, leiomyosarcomas, or other tumors of mesenchymal origin, all of which are extremely uncommon.(15) Evaluation of an abdominal mass begins with radiographic imaging to evaluate the source of the mass and also to determine the presence of metastatic spread both locally and at distant sites. Tumor markers can aid with diagnosis and post-therapeutic surveillance for some malignancies including hepatoblastoma and neuroblastoma. In the first case presented, preoperative imaging did not demonstrate lymphadenopathy, local invasion, or distant spread, and all tumor markers were normal. Therefore, some
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variant of a sarcomatous tumor seemed plausible, and the preoperative surgical plan was to undergo abdominal exploration and perform a gross total resection. The typical pathologic appearance of IF includes spindle cells with many blood vessels arranged
RI PT
in a hemangiopericytoma-like pattern. However, this tumor is marked by its histologic heterogeneity and overlap with a number of other tumors and masses, including congenital mesoblastic nephroma and hemangioma.(16, 17) IHC often shows positivity for vimentin and a lack of markers associated with
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myogenic or vascular tissue. Importantly, the t(12;15) translocation, which causes ligand-independent activation of a tyrosine kinase leading to unchecked cell proliferation, has been identified in cases of IF
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and has since become a significant finding in establishing the diagnosis.(18)
Complete surgical resection is the treatment of choice for IF when reasonably feasible.(19) These tumors rarely demonstrate lymphatic spread so lymph node sampling is unnecessary.(20) Because IF generally demonstrates an excellent response to chemotherapy with sarcoma based regimens, the use of neoadjuvant chemotherapy has been recommended in some cases in order to minimize the need for
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mutilating resections and amputations.(4, 20) However, given its tendency toward complicated presentations, IF arising from the intestine is unlikely to allow for preoperative therapy to be considered. The previously reported cases of IF arising from bowel have all reported good outcomes, despite their
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complicated initial presentations which precluded any systematic preoperative evaluation (Table 1). None of these patients, including the two described here, received adjuvant therapy following resection
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and there have been no follow-up reports of recurrence. In conclusion, we report two cases of a rarely seen IF located within the small bowel. Unlike all previous reports of IF arising from bowel, one of our patients did not present with obstruction or perforation, but rather as an incidental finding at a routine well-child appointment. Although extremely uncommon, IF should be in the differential for a mass arising from the bowel. If negative margins are achieved with surgical resection, adjuvant chemotherapy can be avoided in the absence of metastatic disease. Even in cases presenting with obstruction or perforation, disease-free survival is excellent.
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References 1.
Chung EB, Enzinger FM. Infantile fibrosarcoma. Cancer 1976;38:729-39.
2.
Soule EH, Pritchard DJ. Fibrosarcoma in infants and children: a review of 110 cases. Cancer.
3.
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1977;40:1711-21. Cecchetto G, Carli M, Alaggio R, Dall'Igna P, Bisogno G, Scarzello G, et al. Fibrosarcoma in
pediatric patients: results of the Italian Cooperative Group studies (1979-1995). J Surg Oncol.
4.
SC
2001;78:225-31.
Sulkowski JP, Raval MV, Browne M. Margin status and multimodal therapy in infantile
M AN U
fibrosarcoma. Pediatr Surg Int 2013;29:771-6. 5.
Wright ES. Pancreaticoduodenectomy in infancy: a case report. Surgery 1971;69:389-92.
6.
Shearburn EW, Teja K, Botero LM, Shaw A. Pancreaticoduodenectomy in the treatment of
congenital fibrosarcoma of the duodenum. J Pediatr Surg 1975;10:801-6. 7.
Sherman MP, Neustein HB. Congenital spindle-cell neoplasms of the intestine: a case report and
8.
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Figure Legends Figure 1. Computed tomographic image of intra-abdominal mass seen on pre-operative evaluation for Patient 1.
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Figure 2. (a) Segment of jejunum from Patient 1with tumor [8x5.5x5.5 cm] arising from anti-mesenteric surface. (b) Cut surface showing a bulging surface composed of firm white-tan whorled fibrous tissue. Figure 3. Spindled cell tumor from Patient 1 with fascicular appearance and scattered blood vessels (Hematoxylin & Eosin, 10x)
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Figure 4. Distal ileum, cecum, and proximal ascending colon from Patient 2 with tumor [3.3x3.2x4.5 cm] tan-yellow mass located at the ileocecal valve.
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Table 1. Previously reported cases of intestinal infantile fibrosarcoma. Presentation
Location
Treatment/Outcome
16 months
M
Vomiting without obstruction
Duodenum
Pancreaticoduodenectomy, well at 24 months
Shearburn, et al., 1975(6)
1 day
F
Obstruction
Duodenum
Pancreaticoduodenectomy, well at 14 months
Sherman, et al., 1985(7)
1 day
M
Obstruction
Ileum
Resection, well at 3 years
Shima, et al., 2003(8)
1 day
F
Perforation, meconium peritonitis
Buccoliero, et al., 2008(9)
3 days
M
Islam, et al., 2008(10)
0 days
M
van Niekerk, et al., 2010(11)
2 days
M
Rizkalla, et al., 2011(12)
5 days
M
Kim, et al., 2013(13)
2 days
Ascending colon
Ileocolectomy, well at 12 months
Meconium peritonitis
Descending colon
Resection, well at 5 years
Obstruction
Ileum
Ileocecectomy, well at 9 months
Perforation
Ileum
Resection, well at 12 months
M
Pneumoperitoneum
Sigmoid colon
Sigmoid colectomy, well at 1 year
4 months
F
Asymptomatic abdominal mass
Jejunum
Resection, full recovery
F
Obstruction
Ileum
Ileocecectomy, full recovery
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Resection, full recovery
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Jejunum
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Infantile fibrosarcoma is a rare tumor that infrequently arises from the bowel. Previously reported cases presented with bowel obstruction or perforation. Of the two cases here, one presented with obstruction and one was asymptomatic. Both tumors were completely resected and the long-term prognosis is excellent.
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