Congenital infantile fibrosarcoma (CIFS) is a mesenchymal tumor that occurs in the first year of life and rarely involves the orbit. We describe a patient with a prenatal presentation of orbital and forehead CIFS.
A prenatal ultrasonographic scan at 37 weeks’ gestation showed a large right frontal mass with orbital involvement (Figure 1A), prompting early cesarean delivery. At birth, the mass was 9 × 7 × 4 cm, firm, nonpulsatile, and opaque, with dark and vascular discoloration inferiorly (Figure 1B). Postnatal ultrasonography, computed tomography, and magnetic resonance imaging showed a variegated soft-tissue mass at the glabella extending into the right superomedial orbit and displacing the right globe downward (Figure 1C and D). The anterior tables of both frontal bones were thinned, including a 5-mm-diameter bony defect with associated periosteal thickening. On day 8, the lesion was surgically excised, with preservation of pseudocapsule integrity except in the deep orbit, where the tumor tail was excised piecemeal. The frontal defect was reconstructed with local flaps.
A, The 4.5 × 4.2 × 3.0-cm mass on a prenatal ultrasonographic scan at 37 weeks’ gestation. B, Clinical image from day 1 of life. C, Sagittal computed tomographic image showing globe displacement and compression by the mass. D, Postnatal sagittal magnetic resonance image showing a large variegated lesion with patchy intralesional hyperattenuations consistent with hemorrhage.
Morphological, immunohistochemical, and molecular features were consistent with a diagnosis of CIFS. Fluorescence in situ hybridization confirmed translocation involving ETV6 on chromosome 12 and NTRK3 on chromosome 15, supporting this diagnosis (Figure 2A-C). One year postoperatively, there has been no clinicoradiological evidence of CIFS recurrence (Figure 2D). Visual acuities are equal and ocular movements are full without strabismus. The cranial defect closed spontaneously. The cosmetic appearance is excellent.
A, The tumor is cellular and composed of plump and spindle-shaped fibroblast-type stromal cells with a moderate amount of slightly eosinophilic cytoplasm (hematoxylin-eosin, original magnification ×400). B, The fibroblast-type cells stained for vimentin only. Fluorescence in situ hybridization confirmed the ETV6-NTRK3 translocation specific for congenital infantile fibrosarcoma. Other markers, including CD99, actin, desmin, myogenin, anaplastic lymphoma kinase 1, myeloperoxidase, CD117, S-100 protein, and BAF47, were negative or nonsupportive of other mesenchymal tumors (vimentin, original magnification ×400). C, Immunohistochemical staining for CD163 highlights a prominent reactive inflammatory component, mostly histiocytes (CD163, original magnification ×400). D, Clinical image at age 10 months.
Congenital infantile fibrous sarcoma is a mesenchymal spindle cell tumor found in infants. Forty percent of cases are diagnosed at birth or in utero, mainly affecting the extremities.1,2 Rarely it can be identified on prenatal ultrasonographic scans.3 Prenatal death has been reported from intrauterine CIFS rupture.4
It is a rare cause of orbital mass in infancy. Treatment is usually total surgical excision. Fortunately, fewer than 10% metastasize.2 Neoadjuvant chemotherapy is sometimes used to minimize mutilating effects of surgery.2 Postresection adjuvant chemotherapy is occasionally required. The local recurrence rate is 40% to 50%.5
Large orbital masses rarely present at birth. Differential causes include teratoma, rhabdomyosarcoma, neuroblastoma, and granulocytic sarcoma, a manifestation of leukemia.2 Rarer causes include malignant rhabdoid tumor, infantile solitary myofibroma, and congenital fibromatosis or myofibromatosis. Hemangioma, dermoid cyst, and venous-lymphatic malformation are other differential diagnoses of orbital mass in infancy.
Sarcomas and fibrous tumors of infancy have similar histological findings and are differentiated by immunohistochemistry and molecular tests. The presence of chromosomal translocation t(12;15)(p13;q25) for an ETV6-NTRK3 fusion gene is specific for CIFS.5,6 This translocation is not present in other spindle cell tumors of infancy or childhood, including spindle cell or embryonal rhabdomyosarcoma, malignant fibrous histiocytoma, infant fibromatosis, aggressive fibromatosis, or myofibromatosis.6 In our patient, the morphological and immunohistochemical characteristics suggested granulocytic sarcoma (chloroma) because a reactive inflammatory component composed mostly of histiocytes and lymphocytes, uncommon in CIFS, was evident. However, the ETV6-NTRK3 translocation was diagnostic. This case illustrates the importance of looking for the ETV6-NTRK3 translocation, as treatment with intensive chemotherapy for granulocytic sarcoma would have resulted in significant unnecessary morbidity and possibly mortality for this infant.
To our knowledge, this is the first report of a prenatally identified orbital CIFS treated by vision-sparing surgical excision. Although the early result is excellent, long-term surveillance is planned owing to the risk of recurrence.
This case demonstrates that CIFS is a differential diagnosis of prenatal orbital mass. The ETV6-NTRK3 translocation is present in orbital CIFS. Early cesarean delivery and prompt surgical excision can provide excellent functional and cosmetic results.
Corresponding Author: Dr Lyons, Room A136, Department of Ophthalmology, BC Children’s Hospital, 4480 Oak St, Vancouver, BC V6H 3V4, Canada (firstname.lastname@example.org).
Published Online: April 4, 2013. doi:10.1001/jamaophthalmol.2013.1934
Conflict of Interest Disclosures: None reported.
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