Duplication cyst of ascending colon presenting as an ileal volvulus in a child: a case report and review of literature.

Alimentary tract duplications are uncommon congenital anomalies that may be found anywhere along the gastrointestinal tract. They have a diverse presentation and often times present with complications of intestinal obstruction and/or lower gastrointestinal haemorrhage. We report a very rare finding of a colonic duplication cyst which presented as an ileal volvulus in a young girl. While available investigations were non-specific, the child survived on account of an early decision to operate. She had resection of the duplication cyst and ileo-colic anastomosis. She made good recovery post-operatively. A high index of suspicion is necessary on the part of clinicians to recognise this condition. Early operative intervention is necessary in the developing world setting where state of the art investigations are not available for accurate pre-operative diagnosis.

Surgical management of hereditary colorectal cancer: surgery based on molecular analysis and family history

The importance of colorectal cancer (CRC) is increasing. Aproportion show a hereditary component, as in Lynch syndromeand Familial Adenomatous Polyposis, and a recently defined entityas well, namely, Familial Colorectal Cancer type X. The highprobability to develop CRC in these groups may, at the time ofrecognition, change surgical management, including its timing oreven the surgical technique. In some cases prophylactic surgerycan play an important role. The possibility of using tools that allowrecognition of the aforementioned syndromes, including microsatelliteinstability, immunohistochemistry for DNA mismatchrepair system proteins, and especially their mutations, is on thebasis of therapeutic strategies that differ from those employed insporadic CRC cases(AU)

Congenital/Infantile fibrosarcoma of the colon: morphologic, immunohistochemical, molecular, and ultrastructural features of a relatively rare tumor in an extraordinary localization.

Fibrosarcomas diagnosed during the early years of life are called congenital/infantile fibrosarcomas. They differ from adult fibrosarcomas because of their limited aggressive outcome. Congenital/infantile fibrosarcomas occur most frequently on the extremities. This article describes an exceptional case of colonic congenital/infantile fibrosarcoma diagnosed in a 3-day-old baby boy. It is the third intestinal congenital/infantile fibrosarcoma reported in the international literature. The lesion was radically excised. Microscopic examination revealed a densely cellular and poorly circumscribed tumor composed of spindle cells forming interlacing fascicles with herringbone appearance. Necrotic and hemorrhagic areas were appreciable. Mitotic count was 2/10 high-power fields. Immunohistochemistry revealed that the tumor cells were positive for vimentin, focally positive for h-caldesmon, and that they were negative for epithelial markers, muscular markers, S-100 protein, and CD34. The proliferation index (Mib-1) was 15%. Polymerase chain reaction demonstrated the chromosomal translocation t(12;15) (p13;q25). At the ultrastructural level, neoplastic cells had fibroblastic and myofibroblastic features. The patient underwent follow-up without adjuvant therapy. Twelve months after the surgery, he is alive and well. Given the common indolent nature of this tumor, it is important to avoid misdiagnoses with more aggressive tumors. The algorithm for the diagnosis of congenital/infantile fibrosarcoma, especially outside the usual localizations, should comprise morphologic, immunohistochemical, molecular, and ultrastructural studies.

Primary colonic congenital infantile fibrosarcoma presenting as meconium peritonitis.

Congenital infantile fibrosarcoma is a rare soft tissue malignancy that occurs in both axial and extremity locations. We report a case of this tumor arising from the left colon in a newborn presenting with an intrauterine perforation and meconium peritonitis.

Congenital solitary intestinal fibromatosis.

Neonatal intestinal obstruction due to a tumour is rare. We report a six-day-old male neonate who presented with abdominal distension and vomiting. Laparotomy revealed colonic obstruction caused by a stenosing fibrotic lesion in the proximal transverse colon. Histopathological examination of the resected specimen confirmed fibromatosis. We believe this represents the third reported case of solitary colonic fibromatosis. The literature on neonatal intestinal fibromatosis is reviewed.

Butirato y carcinogénesis colorrectal / Butyrate and colorectal carcinogenesis

Introducción. En los últimos años, múltiples estudios epidemiológicos y experimentales han demostrado que la ingesta de una dieta rica en fibra disminuye la incidencia y mortalidad por cáncer colorrectal. Estudios in vitro han demostrado que el ácido butírico, un ácido graso de cadena corta derivado de la fermentación de la fibra dietética en el colon, bloquea la proliferación de células tumorales derivadas de cáncer de colon, por lo que se cree que es el principal componente protector de las dietas ricas en fibra en la carcinogénesis colónica. Métodos. En este artículo hemos realizado una revisión exhaustiva de la bibliografía. Tras un breve resumen del modelo genético del cáncer colorrectal, analizamos las propiedades antitumorales del butirato, así como el estado actual de conocimiento de su mecanismo de acción molecular. Resultados. La carcinogénesis es un proceso multietapa caracterizado por la expansión del área de proliferación, la alteración del patrón de diferenciación y la disminución de la apoptosis. En cultivos celulares derivados de cáncer de colon se ha observado que el butirato, a concentraciones fisiológicas, inhibe la proliferación celular bloqueando la célula en fase G1 del ciclo celular, induce diferenciación y apoptosis, y modula la expresión de múltiples genes, incluidos algunos de los oncogenes y genes supresores implicados en la carcinogénesis colorrectal. Conclusión. Actualmente se cree que el butirato es el principal componente protector de la fibra dietética en la carcinogénesis colorrectal, al inducir detención de crecimiento, diferenciación y apoptosis. Sin embargo, se necesita realizar más estudios para determinar el mecanismo exacto de acción molecular (AU)

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.

[Hypoplasia of the thymus gland in children]. / Gipoplaziia vilochkovoi zhelezy u detei.

Morphological changes of the thymus, tonsils, lymph nodes, spleen, and other organs in two observations of severe combined insufficiency (SCIN) in infants of the first year of life are described. In both cases there was hypoplasia of the thymus with the lack or occasional thymic bodies and poor content of thymocytes in the lobules. In one infant, hypoplasia of the thymus was combined with intestinal angiomatosis which suggested the syndrome of ataxia-teleangiectasia. In the other infant, SCIN was associated with severe granulocytopenia of the Kostman type. In this case epithelial cells of the lobules formed adenomatous structures. Both infants died with sepsis developing against the background of SCIN.