Peutz-Jeghers syndrome: need for early screening.

Peutz-Jeghers syndrome (PJS) is an autosomal dominant cancer-predisposing condition characterised by intestinal hamartomatous polyps and distinct melanin depositions in skin and mucosa. Small intestinal cancer in patients with PJS usually presents by the third decade. A 7-year-old-PJS boy presented with recurrent episodes of colicky abdominal pain and melena requiring repeated blood transfusions. Abdominal CT scan revealed multiple jejunal polyps with jejunoileal intussusception. On exploration, the intussuscepted bowel was resected along with its mesentery and anastomosed. Simultaneously, multiple enterotomies with resection of palpable polyps were performed. The resected bowel showed well-differentiated stage 2A adenocarcinoma with clear resected margins. Postoperatively, the complaints were relieved. On follow-up, he was asymptomatic and is now on yearly cancer surveillance. This is probably the youngest reported case of small bowel cancer in PJS.

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 immature teratoma originating from the jejunum.

A small bowel teratoma has never been reported in English literature. We present a case of congenital immature teratoma originating from the jejunum, along with a discussion of its pathophysiologic features and the clinical course.

Congenital fibrosarcoma of the jejunum in a premature infant with meconium peritonitis.

We report an unusual case of perforation of a congenital fibrosarcoma of the jejunum in utero and secondary meconium peritonitis. Prenatal ultrasound showed polyhydramnios and fetal ascites from 25 gestational weeks in the absence of other fetal congenital anomalies. A 2200 g baby girl was born at 34 weeks gestation, presenting with severe generalized edema and respiratory distress immediately after birth. Plain radiography revealed progressive abdominal distension and pneumoperitoneum. The baby subsequently underwent surgery at the age of one day. A perforation of the upper jejunum, which had resulted in meconium peritonitis, was discovered intraoperatively and the perforated section of the intestine was resected and anastomosed successfully. The postoperative course was uneventful. Pathological examination confirmed that the perforation was caused by rupture of a congenital fibrosarcoma originating from the jejunum. Rupture of a malignant tumor is an extremely rare cause of peritonitis in the fetus and neonate.

Congenital gastrointestinal stromal tumour is morphologically indistinguishable from the adult form, but does not express CD117 and carries a favourable prognosis.

AIMS: The histological and immunohistochemical features of a congenital stromal tumour of the jejunum are compared with those of adult gastrointestinal stromal tumours (GIST). The literature concerning the diagnosis and prognosis of congenital small intestinal stromal tumours is reviewed. METHODS AND RESULTS: A term female infant presented with intestinal obstruction, from birth. Histology of a 15-mm jejunal nodule showed a predominantly spindle-cell tumour with epithelioid areas. There was a low mitotic count and mild nuclear pleomorphism, extensive necrosis and haemorrhage, and focal calcification. Immunohistochemically, tumour cells stained for muscle specific actin and vimentin. Staining for CD117 (c-kit), S100, desmin and CD34 was negative. The features were compared to those of seven adult cases: no morphological feature was specific to the congenital tumour, which was smaller than the adult cases. There were no ultrastructural features specific for a particular line of differentiation. Immunohistochemical staining patterns were similar, except for CD117, which was strongly positive in all adult tumours, but negative in the congenital tumour. CONCLUSIONS: This congenital jejunal stromal tumour morphologically resembled adult GIST, but lack of c-kit expression suggests that it is nosologically distinct. Despite the presence of histological features which would cause the tumour to be categorized as malignant in an adult, it is apparent from previous reports of congenital small intestinal stromal tumours that the prognosis is favourable.

Congenital gastrointestinal pacemaker cell tumor.

The interstitial cells of Cajal complex within the gut wall function as a pacemaker to direct peristalsis. Their neoplastic counterpart is the gastrointestinal pacemaker cell tumor, a spindle and/or epithelioid cell mesenchymal tumor previously known as gastrointestinal stromal tumor or incorrectly called leiomyosarcoma in some cases of older reports. Although numerous cases of gastrointestinal leiomyosarcomas have been documented in the English-language literature, no pediatric case of gastrointestinal stromal tumor or gastrointestinal pacemaker cell tumor has, to our knowledge, been recorded. Herein, we report a case of congenital gastrointestinal pacemaker cell tumor confirmed by immunohistochemistry and electron microscopy in a full-term male newborn.

Fetiform teratoma arising from a tubular intestinal duplication. A probable cause of ruptured exomphalos.

A neonate who had a ruptured exomphalos with a fetiform teratoma arising from the end of a long intestinal tubular duplication and a short gut is presented. The management is discussed and the literature is reviewed.

Congenital jejunal leiomyoma in a neonate.

Leiomyomas of the small intestine are rare in neonates. We report a neonate with jejunal leiomyoma, who presented with acute intestinal obstruction.

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.