Long term follow-up of congenital infantile fibrosarcoma of the orbital region.

We present the long-term follow-up of a case of periorbital congenital infantile fibrosarcoma (CIFS) treated with chemotherapy and surgery. The tumor was detected on a routine prenatal ultrasound at 30 weeks of gestation and diagnosed via an orbital biopsy day 9 postnatal age. The patient underwent chemotherapy and surgical debulking within the first 3 months of life and has maintained complete tumor remission for 7 years. The case highlights that early recognition and prompt treatment of periorbital CIFS can lead to complete long-term remission of this uncommon malignancy.

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 of the scalp: a case series and review of literature.

INTRODUCTION: Congenital infantile fibrosarcoma (CIFS) is a soft tissue sarcoma of infants mainly involving lower extremities usually presenting during the first year of life. A subset of cases occur in the head and neck, but scalp involvement is exceptionally rare. PATIENTS AND METHODS: We report clinicopathological features of three cases of CIFS involving the scalp diagnosed between 2011 and 2012. RESULTS: The ages of the three patients at the time of diagnosis ranged from 12 to 90 days (mean 48 days). All were males and presented with scalp swelling at birth which grew rapidly in size. The tumor was located in the left temporal region in two cases and the right temporoparietal region in one case. On imaging, underlying bone involvement was noted in two cases. The mean size of the resected tumors was 8 cm. All cases exhibited a cellular tumor arranged in sheets of uniform oval to spindle cells, increased mitosis, and hemangiopericytoma-like vessels. All patients are alive after a mean follow-up of 39.6 months. Recurrence was seen in one case due to incomplete excision. No metastasis was seen in any of the cases. CONCLUSION: CIFS of the scalp is rare and carries a good prognosis. Underlying bone erosion is rare but was noted seen in two of our cases. A male predominance was seen in our cases.

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.

Magnetic Resonance Imaging Features of Congenital Infantile Fibrosarcoma.

Background Congenital/infantile fibrosarcoma is a rare soft tissue tumor presented in early age of life. It should be considered in the differential diagnosis of the large soft tissue masses especially in the extremities at the age of infancy. These tumors frequently are misdiagnosed at birth as hemangioma. Histologically, they can resemble their adult counterparts and they are characterized by the chromosomal translocation t(12;15) (p13;q25) resulting in the ETV6-NTRK3 gene fusion. Objective A retrospective review of the MRI features of histopathology-proven congenital/infantile fibrosarcoma provides our own institutional experience and supports the limited radiology literature written about this disease. Material and method The list of our patients is obtained after reviewing our radiology and pathology database in the period between June 1st, 2007 and May 31st, 2017 (10 years) at King Faisal Specialist Hospital & Research Center, Riyadh. Phrases used to search in our MRI examinations database are: congenital infantile fibrosarcoma, infantile fibrosarcoma, juvenile fibrosarcoma, soft tissue sarcoma, malignant soft tissue mass, sarcomatous soft tissue mass, fibrosarcoma, spindle cell sarcoma, myomatous sarcoma. Result In our database and picture archiving and communication system (PACS) during the period of the study, the word (fibrosarcoma) was mentioned in the radiology report of 182 patients. Only four cases were histopathologically proven to be a congenital/infantile fibrosarcoma and had completed their own MR exams - three of them were primary/new cases, males with an age range between 0 days and 5 months (median age: 5 months). The fourth case was a female with a history of 1st presentation at the age of one month and proved by histopathology examination but there was no available imaging at that time; however, tumor recurrence in the same patient was at the age of 4 years with available MR imaging and pathology sample. Conclusion Congenital infantile fibrosarcoma is a rare entity that has no specific MRI findings. However, it should be always considered as part of the differential diagnosis of congenital soft tissue masses with aggressive behavior.

A case of congenital infantile fibrosarcoma of sigmoid colon manifesting as pneumoperitoneum in a newborn.

Congenital infantile fibrosarcoma (CIF) is a rare soft-tissue tumor in the pediatric age group and seldom involves the gastrointestinal tract. A 2-day-old boy was transferred to our hospital with a pneumpoperitoneum. After emergency operation, we could find a solid mass wrapping around a sigmoid colon and performed a segmental resection of sigmoid colon including a mass. Histopathologic examination showed an infantile fibrosarcoma origining from the muscular layer of colon. The baby was discharged on the 17th hospital day and followed for 1 yr without recurrence.

Giardiasis in an Infant With Fibrosarcoma: A Case Report.

INTRODUCTION: Giardia lamblia is a neglected parasitic infection that typically affects the developing nations of the world. It is a microscopic intestinal parasite that is known to cause stomach cramps, bloating, nausea and bouts of diarrhoea. CASE PRESENTATION: Here, we are presenting the case of a 1.5 years-old-baby with an immunocompromised condition who got infected by Giardia lamblia. The baby with fibrosarcoma was receiving treatment in our tertiary care centre, and later developed abdominal and minor systemic complaints. Stool samples were collected, which showed trophozoites and cysts of Giardia. DISCUSSION: To the best of our knowledge, this is the first case of Giardia lamblia infection in a paediatric patient with fibrosarcoma. The patient improved after taking metronidazole for ten days. CONCLUSION: It is critical to keep a watch out for this neglected parasite, and suggested samples, particularly stool samples, must be sent for investigation in order to diagnose and manage these cases properly.

Prenatal ultrasound diagnosis of congenital infantile fibrosarcoma and congenital hemangioma: Three case reports.

BACKGROUND: Congenital infantile fibrosarcoma (CIF) and congenital hemangioma (CH) have similarities on prenatal ultrasound and are rare. CASE SUMMARY: We report 3 cases of fetuses with superficial hypervascular tumors, confirmed by postnatal pathology as CIF (1 case) and CH (2 cases, including 1 in a twin fetus). In Case 1, a mass with a rich blood supply in the fetal axilla was discovered by prenatal ultrasound at 28+0 wk of gestation. The postpartum pathological diagnosis was CIF, the mass was surgically removed, and the prognosis of the child was good. In Case 2, at 23+1 wk of gestation, a mass was discovered at the base of the fetus's thigh on prenatal ultrasound. The postpartum pathological diagnosis was CH. After conservative treatment, the mass shrank significantly. Case 3 occurred in a twin fetus. At 30+0 wk of gestation, prenatal ultrasound revealed a bulging mass with a rich blood supply on the abdominal wall of one of the fetuses. Three weeks later, the affected fetus died, and the unaffected baby was successfully delivered by emergency cesarean section. The affected fetus was pathologically diagnosed with CH. CONCLUSION: Prenatal ultrasound can provide accurate information, such as the location, size and blood supply of a surface mass in a fetus. We found similarities between CIF and CH in prenatal ultrasound findings. Although it is difficult to distinguish these conditions by prenatal ultrasound alone, for superficial hypervascular tumors that rapidly increase in size in a short period, close ultrasound monitoring of the fetus is required to quickly address possible adverse outcomes.

Rhabdomyosarcoma or Fibrosarcoma? A Case of Large Ulcerated and Necrotic Lesion on the Forearm of a Newborn.

Congenital infantile fibrosarcoma (CIFS) is a rare malignant soft tissue tumor. The incidence of fibrosarcoma is estimated to be 0.3 per 100 000 population per year, and it accounts for less than 1% of all soft tissue sarcomas. We present a case of a 7-day-old newborn with a large ulcerated and necrotic lesion on the left forearm, which was initially misdiagnosed as rhabdomyosarcoma. Magnetic resonance imaging (MRI) revealed a soft tissue mass with cystic components affecting the forearm and distal humerus muscles. Fine-needle biopsy was performed and initially diagnosed as rhabdomyosarcoma but later confirmed as low-grade fibrosarcoma with positive immunostaining for vimentin. The patient underwent a transhumeral amputation with follow-up chemotherapy at a specialized oncology center. This case underscores the importance of interdisciplinary collaboration and specialized care in managing complex medical conditions in infants. Early detection and appropriate management of these tumors are essential for improving outcomes and reducing morbidity and mortality. Despite the rarity of this case, it serves as a reminder of the importance of considering neoplastic lesions in the differential diagnosis of soft tissue masses in newborns.

Larotrectinib as an Effective Therapy in Congenital Infantile Fibrosarcoma: Report of Two Cases.

Congenital infantile fibrosarcoma (CIF) is a rare tumor in children that occurs in the first years of life. It usually arises in the extremities but some cases affect the trunk, neck, abdomen, or retroperitoneum. Surgical resection has been traditionally the treatment of choice but the development of genomic analysis and targeted therapies has shed light on new therapeutic options. We present two patients with a congenital mass, one in the abdominal cavity (1-month-old) and the second in the left lower extremity respectively (2-months-old). In both cases, the clinical and radiological findings showed heterogeneous masses with rapidly progressive growth. MRI in the first patient exhibited an abdominal mass surrounding the aorta and inferior vena cava associated with a giant infrarenal aortic aneurysm. CT-guided biopsy was performed with pathological findings of fibrosarcoma and ETV6-NTRK3 gene fusion. The second patient underwent open biopsy also with histopathological diagnosis of fibrosarcoma and the same mutation in the TRK gene ( NTRK3 ). Targeted therapy with a specific TRK inhibitor, larotrectinib, was started in both patients. Periodical controls were made by ultrasound or MRI, and after a few weeks of treatment, both children showed significant decrease in the mass. By the second and third months after starting the treatment, both tumors disappeared. The first patient is now 15-months-old and the second one is 8-months-old. Larotrectinib is a novel targeted therapy with excellent results in CIF but long-term outcomes are limited to establish it as a gold standard treatment.

Recurrent Leiomyosarcoma With Malignant Transformation.

The soft tissues are comprised of various structures and supportive tissues in the body, including muscle, connective tissues, endothelium, synovium, fat, lymphatics, and fascia. Soft tissue sarcomas may arise in any part of the body. The most common sites are the trunk and the extremities. Fibrosarcoma is the most common non-rhabdomyosarcoma soft tissue sarcoma (NRSTS) in children, in whom two peaks in incidence are observed. The first is in children younger than five years, and the second is in children and adolescents aged 10-15 years. Infantile fibrosarcoma (IFS) is almost exclusively observed in children younger than two years. Many of these sarcomas are congenital. This tumor is locally aggressive, but rarely metastatic, and occurs in the extremity in 70% of patients. A 29-year-old lady presented to the Oncology unit with the fifth recurrence of fibrosarcoma which was transformed into very vascular and high-grade leiomyosarcoma from the fourth recurrence onwards. Initially, it was diagnosed when she was two days old and radiologically diagnosed as lymphangioma. It was documented as a large lump at the right lumbar region with uniform echogenicity and was excised and the postoperative period was uneventful. At the age of 12 years, she presented with a large mass at the right lumbar region over the surgical scar and complete excision done with R0 resection. Histology revealed well-differentiated fibrosarcoma with varying sizes of fibroblasts and no alignment features. The third relapse was at the age of 27. Complete excision was done and histology reported as spinel cell tumor with the possibility of fibrosarcoma or leiomyosarcoma. It was R0 resection and adjuvant treatment was not offered. Tumour recurred over the same scar within a year. Since the tumor is very big with 10 cm craniocaudal and 9 cm wide neoadjuvant chemotherapy is given: IV doxorubicin and IV cisplatin. Surgery was performed after four cycles and found necrotic tissue only. There were no tumor tissues or any form of spindle cells. Due to the aggressive nature, there was no exact solid tumor to assess margins for recommended adjuvant radiotherapy; IMRT. Due to the delay in finding a spacer to keep the bowel away from the radiotherapy field, radiotherapy was delayed and the tumor recurred within six months. It was a radiologically very vascular tumor and she had severe neuropathy and autotoxicity and could not offer any more chemotherapy. The tumor was rapidly growing and was bigger than the last time. Tumor growth was controlled with antiangiogenesis inhibitor; IV bevacizumab and high dose steroids and opioids for pain. After four months, we could not continue bevacizumab due to very high blood pressure and the patient died while waiting for palliative surgery. Childhood fibrosarcoma, including IFS, has classically been treated with surgery alone or with neoadjuvant chemotherapy and surgery. In cases that are not amenable, surgical resection is done upfront. Patients with IFS have an excellent prognosis, with survival rates of more than 90% in some series. A multidisciplinary approach is essential in managing infantile fibrosarcoma as it has a high potency of recurrence during teenage or later in life with malignant transformation. This could have been prevented when the clinicians are well aware of this risk of recurrence and primary surgery has to be planned very carefully with multidisciplinary involvement.

Treatment Concepts and Challenges in Nonrhabdomyosarcoma Soft Tissue Sarcomas.

Pediatric nonrhabdomyosarcoma soft tissue sarcomas (NRSTSs) encompass a heterogeneous group of mesenchymal tumors with more than 50 histologic variants. The incidence of NRSTS is greater than rhabdomyosarcoma; however, each histologic type is rare. The treatment schema for all NRSTSs is largely surgical. The treatment is a risk-adapted approach based on tumor size, localization, tumor grade, and presence of metastases. Low-grade tumors are mainly managed by surgery alone, whereas for high-grade tumors a multimodal treatment concept is necessary. The multimodal treatment consists of tumor biopsy, chemotherapy, local treatment (surgery ± radiotherapy), and immunotherapy in selected conditions.

Early Surgery Is Feasible for a Very Large Congenital Infantile Fibrosarcoma Associated With Life Threatening Coagulopathy: A Case Report and Literature Review.

Background: Congenital infantile fibrosarcoma (CIF) is a rare malignant soft tissue tumor that predominantly occurs in children under 1 year of age. CIF is frequently misdiagnosed with other conditions like hemangioma of infancy, infantile fibromatosis, or kaposiform hemangioendothelioma. Disseminated intravascular coagulopathy (DIVC) is rarely reported to be associated with CIF. Case presentation: We describe an infant who presented with a large mass over the right arm. She was initially treated conservatively as hemangioma but was later confirmed by tissue histopathological examination to have CIF as the mass rapidly increased in size. She developed massive intra-tumoral bleed with DIVC whilst receiving neoadjuvant chemotherapy requiring multiple blood products transfusion. An urgent near-total resection of the tumor was performed in view of life threatening bleeding despite multiple blood transfusions. Post-operatively, she received further adjuvant chemotherapy. Subsequently, she remained in complete remission 32 months off-treatment and has full function of the affected limb. Conclusions: CIF is an important condition to be considered in infant who has large mass over the extremity. DIVC could be associated with large CIF and when it occurs can be life-threatening. Whenever feasible early surgery should be performed in very young patients with large CIF to prevent mortality from bleeding.

Rare presentation of four primary pediatric cardiac tumors.

Pediatric cardiac tumors are extremely rare and usually benign. We selected four unique cases of pediatric cardiac tumors from a 15-year period at our institution. The four chosen cases represent unique, rare primary tumors of the heart. Our selection includes a case of Rosai Dorfman disease without systemic involvement, which is, to our knowledge, the second case of isolated cardiac Rosai Dorfman disease in a child. We present a case of subtotal replacement of myocardium by granulocytic sarcoma with minimal bone marrow involvement, representing the first reported case in a child manifested as hypertrophic cardiomyopathy, as well as a case of a primary synovial sarcoma arising from the atrioventricular (AV) node, representing the fourth reported pediatric case of a cardiac synovial sarcoma, and it is the first to arise from the AV node. Finally, we present a primary congenital infantile fibrosarcoma of the heart, which is, to our knowledge, the first confirmed cardiac congenital infantile fibrosarcoma. These four cases represent the need for continued inclusion of rare cardiac conditions in a clinician's differential diagnosis. Furthermore, they present the need for more in-depth molecular and genomic analysis of pediatric cardiac tumors in order to identify their etiopathogenesis.

Congenital infantile fibrosarcoma: Association with bleeding diathesis.

PATIENT: Male, 2 month FINAL DIAGNOSIS: Congenital infantile fibrosarcoma Symptoms: Bleeding Medication: Vincristine • actinomycin • cyclophosphamide Clinical Procedure: Surgical resection Specialty: Pediatric Oncology. OBJECTIVE: Diagnostic/therapeutic accidents. BACKGROUND: Congenital infantile fibrosarcoma (CIF) is a soft-tissue tumor occurring during the first 2 years of life, most commonly in the extremities. CIF is frequently initially misdiagnosed as a vascular tumor, but its association with bleeding and coagulopathy has not been well characterized. CASE REPORTS: We describe 2 infants with CIF presenting with bleeding and coagulopathy, requiring urgent intervention. Both patients did well; one underwent partial resection followed by chemotherapy, and the other received 2 cycles of chemotherapy followed by gross total resection. We also provide a review of all reported cases of coagulopathy in the setting of CIF in the English literature, uncovering an association that seems to be more prevalent in patients diagnosed in the neonatal period, with associated anemia and thrombocytopenia, and a significant mortality rate. CONCLUSIONS: CIF needs to be considered in the differential diagnosis of vascular congenital tumors, especially when there is evidence of bleeding, anemia, or thrombocytopenia.

A Case of Congenital Infantile Fibrosarcoma of Sigmoid Colon Manifesting as Pneumoperitoneum in a Newborn

Congenital infantile fibrosarcoma (CIF) is a rare soft-tissue tumor in the pediatric age group and seldom involves the gastrointestinal tract. A 2-day-old boy was transferred to our hospital with a pneumpoperitoneum. After emergency operation, we could find a solid mass wrapping around a sigmoid colon and performed a segmental resection of sigmoid colon including a mass. Histopathologic examination showed an infantile fibrosarcoma origining from the muscular layer of colon. The baby was discharged on the 17th hospital day and followed for 1 yr without recurrence.