Rhabdomyosarcoma associated with familial adenomatous polyposis

We report a case of a 16 year old girl with orbital rhabdomyosarcoma who during chemotherapy developed bloody diarrhoea. On investigation she was found to have multiple colonic polyps. Cytogenetic analysis has shown a pattern typical of familial adenomatous polyposis. We present a review of the literature concerning the associations of familial adenomatous polyposis. The association of familial adenomatous polyposis with rhabdomyosarcoma has not been previously reported.     

Early detection of adenomatous polyposis coli in Gardner's syndrome.

Gardner's syndrome, an autosomal dominant disorder, consists of multiple polyposis of the colon associated with various soft- and hard-tissue tumors. The appearance of adenomatous hyperplasia and polyposis in at-risk patients before adolescence has not been full appreciated. Four preadolescent children from a kindred with Gardner's syndrome were examined by use of colonoscopy and mucosal biopsy. In three children (18 months, 6 years, and 9 years old) adenomatous hyperplasia or polyposis was found. The colon of the fourth child (3 years old) was normal. The three affected children were asymptomatic. The youngest had a barium enema and results were normal. The oldest child had polyps. Biopsies revealed focal atypical hyperplasia of the glands with pseudostratification of the epithelial cells, frequent mitotic figures, and the absence of goblet cells. More severe manifestations were noted in the splenic flexure than in the sigmoid flexure or rectum. The youngest patient showed early adenomatous hyperplasia characterized by a marked reduction of the goblet cells, especially in the surface epithelium. Colonoscopy and mucosal biopsies are mandatory in at-risk children. By deferring colonic examination until adolescence, a patient is placed at risk for malignant degeneration of the adenomatous tumor.     

Intracranial desmoid tumor with familial adenomatous polyposis coli

Intracranial desmoid tumors are extremely rare. The association of desmoid tumors with familial adenomatous polyposis coli was reported previously, with the tumors involving trunk and extremities. We report a 3.5-year-old girl with intracranial desmoid tumor with familial adenomatous polyposis coli. This condition in a child is rarely reported. Follow-up of the patient after cranial surgery and of the family for this premalignant inherited condition is necessary.     

Colorectal cancer in two pre-teenage siblings with familial adenomatous polyposis

Familial adenomatous polyposis (FAP) is an autosomal dominant disorder that characteristically presents with colon cancer in early adult life. We describe a Pakistani FAP family in which two sons had an unusually early manifestation of colorectal cancer. The index patient presented at 11 years of age with abdominal pain, rectal bleeding and iron deficiency anaemia. Colonoscopy showed that the colon was carpeted with a myriad of polyps. Oesophago-gastric and duodenal endoscopy revealed that polyps had also developed in the duodenum. Multiple biopsies indicated neoplastic lesions. The patient underwent a proctocolectomy and endoscopic duodenal mucosectomy. The diagnosis of an adenocarcinoma of the colon and further adenomatous polyps with low-grade and high-grade dysplasia was confirmed by histology. Family screening including a blood test for anaemia and bowel examination revealed that his 12-year-old brother was also affected. Conclusion:Children with familial adenomatous polyposis are at risk for colon cancer and emphasise the need for early tumour recognition. Gastrointestinal symptoms in children should be thoroughly evaluated and standard screening for colonic polyposis should be performed in all individuals with a positive family history and/or known mutations in cancer-associated genes, particularly in children who are under 10 years of age.     

Sweet's syndrome with multifocal sterile osteomyelitis

Sweet's syndrome is a rare condition characterized by fever, leukocytosis, dense dermal infiltration of leukocytes, and painful indurated cutaneous plaques. We describe a 23-month-old male infant with the typical cutaneous manifestations of Sweet's syndrome and painful extremities that limited ambulation. Evaluation revealed multifocal sterile osteomyelitis of both tibia. After the institution of systemic corticosteroid therapy, the patient's symptoms resolved, and bone scans normalized. After one year of follow-up, the patient has intermittent recrudescences that resolve during corticosteroid therapy. Sterile multifocal osteomyelitis represents another clinical manifestation of Sweet's syndrome.     

Association of juvenile and adenomatous polyposis with pulmonary arteriovenous malformation and hypertrophic osteoarthropathy

The juvenile form is the usual type of colonic polyp seen during childhood. However, mixed forms associating juvenile and adenomatous polyps have been reported. A syndrome including the association of generalized juvenile polyposis, pulmonary arteriovenous malformation, and hypertrophic osteoarthropathy has been described in three cases; however, this is the first report of the association of mixed juvenile and adenomatous polyposis, pulmonary arteriovenous malformation, and hypertrophic osteoarthropathy.     

Familial adenomatous polyposis in two brothers with hepatoblastoma: implications for diagnosis and screening

Two brothers with hepatoblastoma were noted to have a family history of early onset colon cancer. Genetic testing of the younger brother revealed a deletion in exon 15 of the adenomatous polyposis coli (APC) gene (2710-2711delAG), consistent with a diagnosis of familial adenomatous polyposis (FAP). We review the clinical and molecular aspects of the relationship between hepatoblastoma and FAP, and the implications for diagnostic testing and cancer screening in affected patients.     

Metachronous manifestations of Sweet's syndrome in a neutropenic patient with Fanconi anemia

Sweet's syndrome (SS) is an acute, febrile neutrophilic dermatosis that frequently presents with leukocytosis and erythematous plaques. Lesions show neutrophilic infiltration of the dermis and rarely other organs. We report the case of an adolescent male with chronic pancytopenia secondary to Fanconi anemia (FA) who presented with acute respiratory distress. Despite an exhaustive and ultimately unrevealing work-up, the diagnosis of pulmonary SS was not made until he developed characteristic cutaneous lesions 4 months later. Comprehensive review of pathological specimens revealed metachronous SS manifestations with infiltrates in lung parenchyma, dermis, and subcutis in this neutropenic patient.     

Hepatoblastoma in patients with molecularly proven familial adenomatous polyposis: Clinical characteristics and rationale for surveillance screening

Familial adenomatous polyposis (FAP) due to APC mutation is associated with an increased risk of hepatoblastoma. All cases of hepatoblastoma in patients with FAP reported in the literature were reviewed. One hundred and nine patients were identified. Thirty‐five patients (of 49 with data) were diagnosed with hepatoblastoma prior to a later diagnosis of FAP (often in association with advanced colorectal carcinoma), emphasizing a need to identify patients earlier with germline APC mutations for early colorectal carcinoma screening. Hepatoblastoma may present at birth, and screening for hepatoblastoma in infancy in families with FAP prior to APC mutation testing results may be warranted.     

P53基因在幼年性息肉病不典型增生中的表达及其意义

目的 探讨P^53基因异常与幼年性息肉病(JPS)不典型增生改变的关系。方法 采用免疫组化及原位杂交方法检测JPS不典型增生标本中P^53蛋白(DO-7)和P^53mRNA的表达。结果 P^53蛋白在正常黏膜，单发结、直肠幼年性息肉，JPS无不典型增生。JPS伴不典型增生和大肠癌各组中阳性表达率分别为0％、9．3％、27．3％、66．7％和70％；P^53mRNA在上述各组中阳性表达率分别为0％、12．5％、54．5％、75％和80％。P^53蛋白阳性袁达率、P^53阳性面积及P^53mRNA阳性表达率在JPS不典型增生组均显著高于JPS无不典型增生组。P^53蛋白与P^53mRNA表达呈显著一致性。结论 P^53基因变异可能在JPS伴不典型增生的形成过程中起重要作用。     

A pilot study evaluating the use of sirolimus in children and young adults with desmoid-type fibromatosis

Deregulation of the mTOR pathway may play an important role in tumor biology when the APC/β-catenin pathway is disrupted in desmoid-type fibromatosis (DT). A pilot study was conducted to determine whether sirolimus can block the mTOR pathway (primary aim) as well as determine whether it can safely be given in the preoperative setting, decrease tumor size/recurrence, and decrease tumor-associated pain in children and young adults (secondary aims) with DT. Nine subjects ages 5–28 years were enrolled from 2014 to 2017 across four centers. Sirolimus was feasible and was associated with a nonstatistically significant decrease in pS706K activation.     

Expanding the phenotype of multifocal lymphangioendotheliomatosis with thrombocytopenia

Multifocal lymphangioendotheliomatosis with thrombocytopenia is characterized by vascular skin and gastrointestinal (GI) tract lesions, thrombocytopenia, and GI bleeding. The first patient had scattered red macules and subcutaneous nodules on the skin with involvement of the lungs, liver, omentum, and right kidney. At 10 months of age he continues to have severe GI bleeding. The second patient had innumerable vascular plaques on the skin plus muscle, bone, lung, liver, and brain involvement. She died from respiratory failure at 8 months of age due to brainstem involvement. Both patients required aggressive management of GI bleeding, but had quite different skin findings and long‐term outcomes. Pediatr Blood Cancer 2009;52:531–534. © 2008 Wiley‐Liss, Inc.