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.

Primitive Spindle Cell Neoplasm of Ileum with Extensive Heterotopic Cartilage, Presenting as Acute Abdomen in a 6-Day-Old Neonate.

Neonatal intestinal masses with spindle cell morphology have broad differential diagnoses and require a multidisciplinary approach to make the final diagnosis. Spindle cell masses with heterotopic cartilage in the gastrointestinal tract are very rare, and, to our knowledge, have not previously been reported in the neonate. Here we present a case of intestinal primitive spindle cell neoplasm with extensive heterotopic cartilage that manifested initially as acute abdomen in a 6-day-old term infant. Plain radiography demonstrated pneumoperitoneum, prompting diagnostic laparotomy that identified a perforated mass involving the midileum. Histologic and immunohistochemical examination demonstrated an infiltrative spindle cell tumor most compatible with infantile fibrosarcoma (IFS) by a process of exclusion, with nodules of mature heterotopic cartilage. Additional staging studies did not reveal any evidence of residual or metastatic disease. Recognition of this rare variant of IFS will aid in differentiation from other neonatal intestinal mesenchymal tumors.

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.

Solitary intestinal myofibroma an unusual cause of neonatal intestinal obstruction.

Congenital solitary myofibroma is an exceptional tumor of newborn period and presents as solitary or multiple lesions usually confined to soft tissues. It induces intestinal obstruction or perforation, which most frequently involves the jejunum and ileum. However, jejunoileal atresia is the most frequently encountered cause of small bowel obstruction in the neonatal period. We report a new case of solitary myofibroma located in the wall of the ileum, measuring 2.3 cm2 in size, about 25 cm from the ileocecal junction, in a 17-day-old baby girl who presented with abdominal distention and bilious vomiting. Laparotomy was performed on the patient and the tumor was removed; the patient did well after surgery. Despite all the common causes of intestinal obstruction-intestinal atresia, Hirschsprung disease, anorectal anomaly, malrotation, and meconium passage problem in the neonatal period-myofibroma of the small bowel has to be considered because treatment is fairly easy and prognosis is excellent.

Congenital leiomyoma of the distal ileum associated with ileal atresia: a case report.

Association of distal ileal atresia with leiomyoma is a quite rare condition. Herein, we describe a newborn who underwent surgery for ileal atresia and was found to have leiomyoma on pathological examination in the atretic segment. The presence of leiomyoma may indicate a malformation during recanalization and could play a role in the etiology of intestinal atresia. Thus, some cases of atresia may be due to tumor (leiomyoma) in the bowel wall.

Congenital fibrosarcoma of the ileum: case report with molecular confirmation and literature review.

Congenital fibrosarcoma is a rare, soft tissue malignancy of infancy, most commonly involving the distal extremities. We report a case of congenital fibrosarcoma of the ileum in a 5-day-old boy who presented with an acute abdomen due to ileal perforation. Partial ileal resection was carried out with successful anastomosis. Grossly, the resected small bowel showed focal luminal stenosis with a thickened, indurated wall. Histology showed a transmural primitive spindle cell proliferation with a morphology consistent with congenital fibrosarcoma. The associated hallmark chromosomal translocation t(12;15)(q13;q25) was demonstrated by reverse transcriptase polymerase chain reaction.

Infantile gastrointestinal hemangioma as a cause of chronic anemia.

Gastrointestinal hemangiomas, though rare, can be an important source of GI bleeding in infants. In the past, diagnosis has been hampered by a lack of reliable methods. With the recent advent of selective mesenteric angiography, the suspected diagnosis can be readily confirmed. Surgical resection remains the definitive therapy; steroid therapy has produced conflicting results.

Solitary intestinal fibromatosis with perinatal bowel obstruction.

Three newborn male infants presented with bowel obstruction in the first day of life and at surgery were found to have solitary tumors involving the small or large intestine. Histologic examination in each case showed a transmural infiltrative spindle cell lesion having the morphologic features of fibromatosis. Ultrastructural studies in one case revealed the tumor to be composed of myofibroblasts. The patients are all alive and well without recurrences 26 months to 10 years after surgery. Only 3 previous cases of solitary congenital fibromatosis of the intestinal tract have been reported. Some of the other congenital spindle cell tumors cited in the literature under various names have morphologic and biologic similarities to our cases and may in fact be examples of congenital fibromatosis. The appropriate treatment of this unusual lesion is local excision, and the prognosis is excellent.