Unusual Case of Concurrent Retroperitoneal Congenital Infantile Fibrosarcoma and Cellular Type Congenital Mesoblastic Nephroma.

BACKGROUND: Although congenital infantile fibrosarcoma (cIFS) is a rare soft tissue sarcoma among children, it constitutes one of the most common soft tissue sarcomas during the first year of life. Congenital mesoblastic nephroma (CMN) is the most common benign renal tumor usually developing during the first 3 months of life. cIFS and cellular type CMN (cCMN) share not only similar histopathologic features but identical molecular genetic abnormality including the ETV6/NTRK3 fusion gene. Here, we report an unusual case of cIFS occurring with cCMN. CASE PRESENTATION: An 18-month-old girl presented with a 1-month history of abdominal distension and a few days' history of a palpable abdominal mass. A large heterogenous mass sized 9.0×11.2×11.6 cm on the right side of the abdomen and an isolated heterogenous lesion sized 4×4.5 cm within the right kidney were noted from the imaging study. Pathologic findings were consistent with cIFS and cCMN of the right kidney. In addition, both pathologic specimens contained the ETV6/NTRK3 fusion gene. CONCLUSION: Although cIFS and cCMN share similar histopathologic features and molecular genetic abnormality, simultaneous occurrence of these 2 types of tumor is exceedingly rare. To our knowledge, this is the first unusual case report of concurrent cIFS and cCMN.

Successful management of congenital/infantile fibrosarcoma presenting as large, non-healing buttock ulceration.

A two-year-old boy presented with a large, non-healing ulceration on his left buttock, which was originally noted as a brown patch present at birth. Punch skin biopsy was performed and histopathology revealed an atypical, pleomorphic, spindled proliferation in whorled fascicles replacing the dermis and trapping fat in the subcutis, consistent with a diagnosis of congenital/infantile fibrosarcoma. No evidence of metastatic spread was seen on imaging. The tumor was initially deemed unresectable owing to extent of local invasion. Neo-adjuvant chemotherapy caused significant tumor shrinkage and the patient underwent complete resection.

A case of congenital infantile fibrosarcoma in a newborn.

Infantile fibrosarcoma is a malignant tumor, which is most common in infants, preferentially localized in the lower limbs. An important prognostic factor of the disease is early diagnostics, both clinical and instrumental. The operative treatment of infantile fibrosarcoma is a leading treatment method. The article describes a clinical case of infantile fibrosarcoma in a newborn with fetal development of the disease.

Recurrent BCOR internal tandem duplication and BCOR or BCL6 expression distinguish primitive myxoid mesenchymal tumor of infancy from congenital infantile fibrosarcoma.

Primitive myxoid mesenchymal tumor of infancy is a rare sarcoma that preferentially affects infants. It can be locally aggressive and rarely metastasizes, but the long-term outcome of children with this tumor is mostly unknown. Histologically, it is characterized by primitive cells with abundant myxoid stroma. Internal tandem duplication of B-cell CLL/lymphoma 6 (BCL6)-interacting co-repressor (BCOR) exon 15 has recently been described in clear cell sarcoma of kidney, central nervous system high-grade neuroepithelial tumor with BCOR alteration, and primitive myxoid mesenchymal tumor of infancy. Herein, we report five cases of primitive myxoid mesenchymal tumor of infancy: three girls and two boys with mean age of 6.5 months. The tumors were located in the paraspinal region (n=3), back (n=1), or foot (n=1) and ranged in size from 2.5 to 10.2 cm. BCOR internal tandem duplication was confirmed by PCR and sequencing in all five cases. The minimally duplicated region consisted of nine residues, which is shorter than was previously reported in other BCOR-associated tumors. To assess the clinical value and specificity of the BCOR internal tandem duplication, a group of 11 ETV6-rearranged congenital infantile fibrosarcomas were evaluated and no BCOR internal tandem duplication was identified in any case. Though not detected in congenital infantile fibrosarcomas, BCOR and BCL6 immunoreactivity was present in >90% of the nuclei of tumor cells in each of the five primitive myxoid mesenchymal tumor of infancy. The presence of BCOR internal tandem duplication in all five primitive myxoid mesenchymal tumors of infancy provides evidence that it is a recurrent somatic abnormality and substantiates the concept that this tumor is a unique sarcoma of infancy. Our findings indicate that identification of BCOR internal tandem duplication and/or nuclear immunoreactivity for BCOR or BCL6 can aid in the diagnosis of primitive myxoid mesenchymal tumor of infancy and help to differentiate it from congenital infantile fibrosarcoma.

Congenital infantile fibrosarcoma mimicking a cutaneous vascular lesion: a case report and review of the literature.

Congenital infantile fibrosarcoma (CIFS) is a rare neoplasm of infancy that occurs most frequently in the extremities, and when presenting in the skin, may sometimes resemble infantile hemangiomas or other vascular lesions. Clinically, these tumors differ from hemangiomas in the time of onset, morphology, and growth pattern and must be evaluated histologically for definitive diagnosis. We describe an infant with a neoplasm involving the distal left forearm initially presumed to be a vascular lesion after evaluation by two separate ultrasound studies. He presented at seven weeks of life with a multinodular lesion that had enlarged significantly since birth, and the skin biopsy revealed a fibrosarcoma. This case highlights an unusual cutaneous presentation of CIFS, which varies in appearance from the previous 12 cases reported in the literature. We review the clinical manifestations of these congenital masses and emphasize early diagnosis for conservative therapy and improved prognosis.

A Case of Congenital Infantile Fibrosarcoma of the Bowel Presenting as a Neonatal Intussusception.

Neonatal intussusception of the intestinal tract is rare. However, most neonatal intussusceptions have an organic lead point. For the lead point to be a neoplasm is extremely rare. We report a case that presented with neonatal intussusception with a congenital infantile fibrosarcoma as the lead point. The detection of ETV6-NTRK3 gene fusion was useful, although the definitive diagnosis was achieved by a comprehensive evaluation including this gene analysis, standard histology and immunohistochemistry. Neonatal intussusception should be suspected to be caused by a neoplasm. If pathological diagnosis is difficult, molecular analysis should be utilized to diagnose congenital infantile fibrosarcoma.

Congenital Infantile Fibrosarcoma Associated With a Lipofibromatosis-Like Component: One Train May Be Hiding Another.

Congenital infantile fibrosarcoma (CIFS) is a soft tissue sarcoma of infants mainly involving lower extremities and usually developing during the first year of life. At another end of the spectrum of pediatric fibroblastic lesions, lipofibromatosis is a rare benign infiltrative soft tissue tumor that affects children. The authors report in this study a particular presentation with a CIFS surrounded by lipofibromatosis-like areas. The presence of a surrounding benign tumor confused and delayed CIFS diagnosis.

Congenital intestinal fibrosarcoma with rapid recurrence requiring adjuvant chemotherapy.

A total of 16 cases of congenital fibrosarcoma have been reported from 1975 to March 2015. Five of the 16 had abnormal fusion between erythroblast transformation specific translocation variant 6 and neurotrophin recptor gene neurotrophic tyrosine kinase, receptor, type 3 (ETV6-NTRK3); in another five out of 16 this was absent, and six were not tested. All were managed by surgical resection but none involved metastasis. Herein we report the case of a newborn baby girl with congenital fibrosarcoma negative for ETV6-NTRK3 gene fusion, who presented with ileal perforation and positive resection margin. She had rapid recurrence with lymph node metastasis treated with postoperative chemotherapy. There was no further recurrence at >3 years of follow up.

Congenital Infantile Fibrosarcoma in the Premature Infant.

BACKGROUND: Congenital infantile fibrosarcoma (CIF) is rare and represents less than 1% of all childhood cancers. It is a tumor that originates in the connective fibrous tissue found at the ends of long bones and then spreads to other surrounding soft tissues. These lesions are typically large, grow rapidly, and can often be mistaken for teratomas. Diagnosis is confirmed by pathology, where cellular proliferation of fibroblasts occurs. Imaging is an important part of the diagnosis, which includes the use of magnetic resonance imaging and/or computed tomography scan. Although surgical resection is the primary treatment, chemotherapeutic agents may be used as adjuvant therapy. PURPOSE: To describe modalities for accurate diagnosis and treatment of CIF. METHODS/SEARCH STRATEGY: PubMed was searched using terms "congenital infantile fibrosarcoma" and "infantile fibrosarcoma." Eleven relevant, English language articles were identified and utilized in the preparation of this case presentation. FINDINGS/RESULTS: Complications addressed in this case presentation are prenatal diagnostic challenges, pharmacologic interventions in the setting of prematurity, immunosuppression, and acute liver and renal failure. Pharmacologic treatments will include chemotherapy agents, antimicrobial agents, as well as granulocyte colony-stimulating factor for immunosuppression. Nursing challenges included positioning and integumentary disturbances. IMPLICATIONS FOR PRACTICE: Utilization of diagnostic imaging and pathology to accurately identify and diagnose CIF is essential. IMPLICATIONS FOR RESEARCH: Safety and efficacy of chemotherapeutic agents in premature infants with CIF need to be established.

Congenital-infantile fibrosarcoma of the ileocecal region: the first case presentation.

Infantile fibrosarcoma is a very rare soft tissue tumor that originates most commonly in the body and extremities. We present a neonate with an infantile fibrosarcoma that originated in the ileocecal region and was detected incidentally without symptoms. This is the first case of fibrosarcoma reported in the ileocecal region.

Fetal presentation of congenital fibrosarcoma of the meninges: case report and literature review.

AIM: Congenital infantile fibrosarcoma (CIFS) exceptionally occurs in the meninges, with no cases reported before or at birth. We report herein a meningeal CIFS diagnosed in a fetus at 40 weeks of gestation (WG). CASE REPORT: A 24-year-old pregnant woman was referred to the obstetrics department for vaginal bleeding. A severe right hydrocephalus due to a large tumor invading the left hemisphere and ventricles was discovered in the fetus, and medical termination of the pregnancy was achieved. RESULTS: Histological examination revealed a highly cellular spindle or ovoid shaped cell proliferation organized in interlacing bundles; it was diffusely positive for vimentin, and scarcely for SMA (smooth muscle actin). NFs (neurofilaments), NeuN, S100 protein, desmin, GFAP (glial fibrillary acidic protein), Olig2, chromogranin, synaptophysin, CD31, CD34, BCL2, and EMA (epithelial membrane antigen) antibodies were negative. Ki67 antibody labeled 20% of the nuclei. A reverse transcription polymerase chain reaction assay was performed to detect the gene fusion ETV6-NTRK3 transcript. Despite negative results, it was concluded to be a CIFS of the meninges. DISCUSSION: CIFS of the meninges during the fetal period has never been reported. Its diagnosis is based on immunohistochemistry, and, whenever possible, on the detection of the reciprocal translocation t (12;15) resulting in the gene fusion ETV6-NTRK3. Its prognosis depends on rapid growth and local invasiveness leading to cerebral structure damage.

Sonographic features of congenital infantile fibrosarcoma that appeared as a sacrococcygeal teratoma during pregnancy.

We experienced an extremely rare case of congenital infantile fibrosarcoma originating from the fetal sacrococcygeal region in pregnancy. At first, we suspected fetal sacrococcygeal teratoma; however, the following ultrasonography findings of the tumor complicated this diagnosis: (i) laterality; (ii) no cystic component; (iii) hypervascularity, with the feeding vessels not derived from the middle sacral artery; and (iv) a skin covering. The pathological findings indicated that the tumor was an infantile fibrosarcoma, not a teratoma. Thus, we believe that these sonographic features may aid the prenatal diagnosis of congenital infantile fibrosarcoma, which, in turn, may contribute to a better prognosis and may be useful for parental counseling.

Congenital fibrosarcoma in complete remission with Somatostatin, Bromocriptine, Retinoids, Vitamin D3, Vitamin E, Vitamin C, Melatonin, Calcium, Chondroitin sulfate associated with low doses of Cyclophosphamide in a 14-year Follow up.

At birth, a male child presented a 6 cm tumour in the right leg. The tumour was partially removed after just 12 days. Histology showed a congenital fibrosarcoma associated with reactive lymphadenitis. A first cycle of adjuvant chemotherapy did not prevent the rapid progression of the disease. Subsequent evaluation for surgical removal raised serious concerns due to the need for a major operation involving total amputation of the right leg and hemipelvectomy. Since surgery could not exclude the possibility of disease recurrence and since the traditional cycles of chemotherapy did not offer any possibility of a cure, the parents opted for the Di Bella Method. The combined use of Somatostatin, Melatonin, Retinoids solubilized in Vit. E, Vit. C, Vit. D3, Calcium, and Chondroitin sulfate associated with low doses of Cyclophosphamide resulted in a complete objective response, still present 14 years later, with no toxicity and without the need for hospitalization, allowing a normal quality of life and perfectly normal adolescent psycho-physical development.

Congenital-infantile fibrosarcoma presenting as a hemangioma: a case report.

INTRODUCTION: Congenital-infantile fibrosarcoma (CIFS) is a rare pediatric soft tissue tumor that on initial clinical presentation can mimic an infantile hemangioma. Management of these conditions differs drastically, and delay in diagnosis and treatment may affect prognosis. METHODS: A 6-month-old male infant originally presented to dermatology for evaluation of a suspected right buttock hemangioma, present at birth as a small red mass just lateral to the gluteal cleft. The lesion rapidly grew over 2 weeks to a size of 4×4.5×4.5 cm, with violaceous color change and central ulceration. The patient received a course of cephalexin; however, the mass became painful with several episodes of bleeding and did not show clinical improvement. Magnetic resonance imaging and ultrasound supported the diagnosis of atypical hemangioma. RESULTS: Plastic Surgery was consulted for excision due to recurrent bleeding. An excisional biopsy was undertaken and pathologic finding showed CIFS. The case was discussed with Hematology/Oncology and Pediatric Surgery, and the patient underwent re-excision and obtained clear margins. Initial metastatic workup was negative; however, patient had evidence of recurrent disease as well as pulmonary metastasis on his most recent surveillance imaging. He underwent re-excision of the gluteal mass and is currently receiving adjuvant chemotherapy. CONCLUSIONS: This case demonstrates a rare malignancy initially misdiagnosed as a hemangioma. Consideration of CIFS is crucial in cases of complicated hemangiomas not responding to standard treatment. Treatment calls for excision with wide margins and/or adjuvant chemotherapy if excision is not possible. Classic pathologic findings, immunohistochemistry, and/or reverse transcription-polymerase chain reaction can confirm the diagnosis. A correct and rapid diagnosis of CIFS is critical to optimizing treatment and subsequent prognosis.

Intestinal congenital/infantile fibrosarcoma: a new clinico-pathological entity?

Congenital/infantile fibrosarcoma (IFS) is a relatively rare form of fibrosarcoma diagnosed at birth or during early years of life and that differs from its adult counterpart because of a more favorable behavior. IFS is also known as cellular congenital mesoblastic nephroma, when it affects the kidney and is often but not always characterized by the ETV6-NTRK3 fusion transcript. We report herein the first series of an exceptional tumor of the small intestine occurring in newborns. The four patients shared a stereotyped clinico-pathological presentation with early and acute onset, intestinal perforation, and an infiltration by a highly cellular spindle cell tumor within the dilated intestinal wall exhibiting pathologic features typical of IFS. Molecular studies for the ETV6-NTRK3 translocation were negative in the three cases tested. Patients were treated by surgical wide resection alone and are alive and well (follow-up: 36 months-25 years). Thus, this new clinico-pathological entity, even with lack of documented evidence of the ETV6-NTRK3 translocation, should be included in the differential diagnosis of congenital bowel perforation or obstruction and may represent an intestinal counterpart of IFS.

Congenital infantile fibrosarcoma of the lip.

Infantile congenital fibrosarcomas are rare neoplasms that usually present on the extremities, and although they are locally invasive, they rarely metastasize. They are commonly misdiagnosed as hemangiomas or other vascular tumors, so further evaluation by pathology is required for proper diagnosis. We describe a newborn with a neoplastic growth of the lower lip that was thought to be an infantile hemangioma that did not respond to therapy. When the child was 2 months old, an incisional biopsy demonstrated a fibrosarcoma. This case highlights congenital infantile fibrosarcoma as a mimic of infantile hemangioma. To our knowledge this is first case report of congenital infantile fibrosarcoma involving the lip.

Congenital infantile fibrosarcoma: review of imaging features.

BACKGROUND: Fibrosarcoma is a rare tumor in children with limited information on imaging features of these tumors in the literature. OBJECTIVE: To retrospectively review the imaging features of histologically proven congenital infantile fibrosarcoma. MATERIALS AND METHODS: The list of histologically confirmed congenital infantile fibrosarcomas between November 1999 and June 2013 was obtained from the oncology-pathology database. Imaging features and pathology reports of these tumors were reviewed. Patient charts were reviewed and clinical features, management and outcomes were recorded. RESULTS: During the study period, 13 children (9 girls and 4 boys; age range: 0 day-16 months, median age: 2.5 months) with congenital infantile fibrosarcomas were available for complete radiological review. The translocation (t[12;15]) was present in 11/13 (84.6%) and absent in 2/13. Eight/thirteen (61.5%) tumors were located in extremities (5 in lower and 3 in upper), 3/13 in thoracolumbar paraspinal regions, and one each in abdomen and sternocleidomastoid muscle. Imaging features included iso- to hyperintensity on T1-W, hyperintensity on T2-W as compared to skeletal muscles and heterogeneous enhancement. Six (37.5%) tumors showed hemorrhagic components and 2 (15.4%) showed low intensity foci. None of the patients had evidence of regional or distant metastases at diagnosis. Management included surgical resection only (1/13) and combined surgery and chemotherapy (10/13). Overall survival was 100% with a median follow-up of 49.3 months. CONCLUSION: Congenital infantile fibrosarcoma has nonspecific imaging characteristics but should be high on the differential diagnosis in a soft-tissue tumor presenting in infancy, located in an extremity and showing tumoral hemorrhage. Patients have a favorable outcome.

Congenital peribronchial myofibroblastic tumor: prenatal imaging clues to differentiate from other fetal chest lesions.

We present a prenatal case of congenital peribronchial myofibroblastic tumor referred as a congenital pulmonary airway malformation (CPAM) with hydrops and polyhydramnios at 30 weeks' gestational age. US and fetal MRI findings did not fit with the referral diagnosis, raising the possibility of intrinsic lung tumor. Fetal hydrops worsened and the baby was successfully delivered by ex utero intrapartum treatment (EXIT) to resection at 31 weeks' gestational age. To the best of our knowledge, this is a unique case of congenital peribronchial myofibroblastic tumor that underwent comprehensive prenatal evaluation and EXIT procedure with good outcome.

Congenital infantile fibrosarcoma of the colon: a case series and literature review.

Congenital infantile fibrosarcoma is rare and only three cases affecting the colon have previously been reported. We describe two further cases that presented in the neonatal period and were both successfully treated with surgical excision and have no evidence of recurrence or metastasis at 31 and 27 months follow-up, respectively.