A newborn presents with a large, bleeding mass on her left hand (Figure 1).The infant was born through meconium-stained amniotic fluid and was initially nonvigorous. The trachea was suctioned, and heart rate remained less than 100 beats per minute. Positive-pressure ventilation with a bag and mask was initiated, and heart rate increased within 15 seconds. A large friable mass was noted arising from the ventral surface of the left hand. All digits were present and well formed but displaced by the mass.The infant was stabilized, umbilical lines were placed, and the preceding laboratory values were obtained. Given her anemia and consumptive coagulopathy (platelet consumption, low fibrinogen, elevated D-dimer, prolonged activated partial thromboplastin time, and elevated international normalized ratio), fresh frozen plasma, platelets, and packed red blood cells were transfused and vitamin K was administered. The hand mass measured 7 × 7 cm. Plastic surgery, pediatric surgery, pediatric dermatology, and pediatric hematology-oncology specialists were involved in the initial evaluation of the mass, which included extremity magnetic resonance imaging, live ultrasonography, chest radiograph, and biopsy.Term infant with disseminated intravascular coagulopathy secondary to vascular mass on the left upper extremity.The infant was diagnosed with infantile (congenital) fibrosarcoma (IFS). Biopsy specimens of the patient’s hand revealed a nonrhabdomyosarcoma soft tissue sarcoma, and fluorescence in situ hybridization showed rearrangement involving the ETV6 (TEL) region of chromosome 12 consistent with the diagnosis of IFS. The patient’s condition was staged with computed tomography of the thorax and abdomen and magnetic resonance imaging of the entire left arm, which confirmed local disease confined to the hand. After a multidisciplinary meeting of pediatric oncology, plastic surgery, neonatal intensivists, and the patient’s family, the decision was made to pursue a modified regimen of neoadjuvant vincristine, doxorubicin, and cyclophosphamide with hopes for future hand-sparing surgery. After two 3-week cycles, numerous transfusions, and minimal clinical or radiographic evidence of tumor response (measured 13 × 13 cm), the family elected to proceed with a forearm-level amputation. One week after amputation, the patient was discharged from the hospital with clinical surveillance but no plan for adjuvant chemotherapy.IFS is a rare soft tissue sarcoma occurring in children less than 2 years of age. Rare as it is, IFS is the most common soft tissue sarcoma in children less than 1 year of age. It is a malignant, locally invasive spindle cell tumor that originates from soft tissue. It is found most commonly in the extremities and less frequently in the trunk or head and neck region. The tumor is often highly vascularized, sometimes ulcerated, and may mimic benign vascular lesions. Approximately 30% to 50% of IFS tumors are present at birth or diagnosed in utero, and up to 60% of cases are diagnosed within the first 3 months after birth. There is no known cause of IFS.Performance of a tissue biopsy is required to diagnose IFS. Histopathologically, IFS is a spindle cell tumor with increased and abnormal mitotic activity that stains negative for desmin and myogenin (muscle cell stains), S-100 (neural crest and other connective tissue stain), ERG (adenocarcinoma stain), CD31 (endothelial cell stain to evaluate for vascular tumors), and CD34 (hematopoietic progenitor cell stain to evaluate for lymphoma). However, there are considerable histologic similarities among sarcomatous tumors. In 1998, a recurrent translocation was discovered in IFS that is now used to make a confirmatory diagnosis, t(12;15)(p13;q25), with the transcript ETV6-NTRK3 that creates a constitutively active tyrosine kinase. IFS may also have characteristic trisomies of chromosomes 8, 11, and 17.IFS is a locally invasive tumor, and distant metastases are very rare. Given its tendency for localization, the therapeutic approach to IFS is multidisciplinary local control. Although surgery remains the mainstay of therapy, many centers are using chemotherapy as adjuvant therapy presurgical and postsurgical excision in an effort to facilitate conservative, organ-sparing, minimally morbid operations. A high response rate has been observed by using chemotherapy regimens that have included vincristine/dactinomycin/cyclophosphamide, vincristine/doxorubicin/cyclophosphamide, and ifosfamide/etoposide. Radiation therapy has been reserved for palliation because of its significant impact on growth in these young patients.Overall, the 5-year event-free survival rate of IFS has been reported to be ∼70%. With good local control, the 5-year event-free survival rate approaches 90%. The time to relapse tends to be early (within 9 months), and the usual pattern of relapse tends to be local recurrence, but rare lung and liver metastases have been reported. These patients are typically followed up off-therapy by pediatric oncology to monitor for relapse.JoDee M. Anderson, MD, MEd, Assistant Editor, Visual Diagnosis, Video Corner; Associate Professor, Oregon Health & Science University, Portland, OR.
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Dec 1, 2016
Gita Yashwantrao Karande + 18
Open Access
