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 fibrosarcoma of the bowel: sonographic description of a rare case of neonatal intestinal obstruction.

A case of localization in the bowel of congenital fibrosarcoma (a rare soft-tissue tumor usually occurring in the extremities) causing intestinal obstruction in a newborn girl is described. A focal thickening of the ileal wall with features mimicking intussusception was identified at sonography; the final diagnosis was achieved by means of molecular analysis after surgical removal of the mass.

Solitary intestinal fibromatosis associated with congenital ileal atresia.

We report for the first time an association between congenital solitary intestinal fibromatosis and intestinal atresia. The spindle cell proliferation showed a high apoptotic index contrasting with a low proliferation rate, suggesting that the tumor may have undergone focal and spontaneous regression, leading to intestinal atresia.

Infantile visceral myofibromatosis--a rare cause of neonatal intestinal obstruction.

Infantile myofibromatosis (IM) is a rare cause of intestinal obstruction in the newborn. A neonate with generalized IM having multifocal intestinal lesions presenting with intestinal obstruction is reported here. Unique intraoperative pictures are provided. The presentation, management, and the prognosis of IM are discussed.

Aggressive congenital fibromatosis of the small intestine in the newborn. Report of a case and review of the literature.

A case of so-called congenital fibro(leio)myosarcoma of the small intestine in a 18-day-old female baby, treated only with surgical resection, was studied by immunohistochemistry and electron microscopy in order to investigate the proliferating cell type. The tumour cells showed positivity only for vimentin and CD 34 and were negative for smooth muscle actin, desmin, alpha-sarcomeric actin, factor VIIIR: Ag and S-100 protein. Ultrastructural findings showed oval nuclei with prominent nucleoli, rare intracytoplasmic mitochondria and well developed rough endoplasmic reticulum. According to histoimmunological and electron microscopy findings the proliferating cells were likely to be of fibroblastic origin. A 7-year follow-up showed a favourable clinical evolution thus confirming that surgical resection can be a sufficient therapeutic approach. The morphological findings and clinical behaviour suggest that more appropriate terminology for this tumour would be "aggressive congenital fibromatosis" which better highlights its local progressive invasion without metastases.

Diffuse neonatal gastrointestinal hemangiomatosis: CT findings.

A 3-week-old boy presenting with a cutaneous hemangioma and gastrointestinal bleeding was found to have gastrointestinal hemangiomatosis involving the entire small bowel diagnosed by exploratory laparotomy. We present the striking, diffuse enhancement of the small bowel wall in this unusual disorder as demonstrated by dynamic contrast-enhanced computed tomography after the bowel was distended with non-radiopaque material.

[Unusual cause of intestinal invagination: congenital polypoid-form gastric heterotopia. Study of a case and review of the literature]. / Une cause inhabituelle d'invagination intestinale: l'hétérotopie gastrique congénitale à forme polypoïde. Etude d'un cas et revue de la littérature.

The authors report a case of polypoid heterotopic gastric mucosa in the ileum presenting as intussusception with hypochromic anemia in a 6 year-old boy. Tumorous heterotopic gastric mucosa in the small bowel is very uncommon. So far 22 similar cases have been published in the literature. This congenital intestinal anomaly is discovered in one third of the cases during the first decade. In 9 of 23 cases gastric heterotopia was diagnosed after an ileal resection for intussusception induced by the heterotopia presenting as a pedunculated or sessile polyp. In our case the great number of the polypoid formations is exceptional and has not been previously described.

[Intestinal ganglioneuromatosis: histochemical, histoenzymological and ultrastructural study of a case]. / La ganglioneuromatose intestinale: étude histochimique, histo-enzymologique et ultrastructurale d'une observation.

Report of a child with disseminated ganglioneuromatosis of the gut. The complexity of the intestinal nervous system malformation is proved by histochemical, histoenzymological and ultrastructural studies. The malformation is characterized by: hyperplasia and hypertrophy of enteric plexus and nerves bundles in the meso, high acetylcholinesterase activity, aplasia of the sympathetic innervation with the exception of perivascular plexus, qualitative and likely quantitative integrity of the endocrine digestive system. These data are compared with similar observations in the literature.

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.