Congenital pancreatoblastoma: a case report

The literature describes 15 cases of congenital pancreatoblastoma (PB): 5 had prenatal diagnosis, none had metastases at diagnosis, 7 were associated with BeckwitheWiedemann syndrome (BWS). In 13 cases resection was radical, while in 2 there were macroscopic residues. Only one patient underwent chemotherapy after distant recurrence. All children are alive except one who died because of problems related to BWS. Our goal is to describe the approach adopted in an infant with congenital PB treated in our center. After a prenatal third semester diagnosis of abdominal anechoic lesion, the radiological investigations (ultrasound, MRI) performed at birth described a cystic lesion of unclear nature. We proceeded to laparoscopic exploration, transformed into open approach after the detection of a lesion located in the body of the pancreas; this lesion was resected, preserving the head and tail of pancreas. The histological diagnosis showed a completely excised PB. After excluding metastatic lesions, we decided to perform only careful follow-up without chemotherapy. The follow-up at 12 months is negative. Although PB is a malignant tumor that requires a multidisciplinary treatment, the congenital cases seem to have a less aggressive biological behavior. The treatment, therefore, in case of complete resection, could be only surgical, followed by a careful follow-up. These forms are often associated with congenital BWS, but in our case the patient did not have the typical characteristics of the syndrome

Hyperbaric oxygen treatment of superficial soft tissue lesions in children with oncologic disease

This study aimed to assess the feasibility and results of hyperbaric oxygen therapy (HOT) as supportive treatment of lesions of superficial soft tissues in children with oncological diseases. This was a retrospective analysis and review of all records of children observed at the Pediatric Hematology-Oncology Department of the University of Padova and treated adjuvantly with HOT. Between 1996 and 2010, 12 patients (5 males and 7 females, median age 7 years, range 0.5–16) underwent HOT. The effectiveness of HOT varied according to the lesion treated. Ten out of 12 patients were cured. Efficacy was most questionable in 2 patients with skin graft and flaps at risk. Compliance to therapy was close to 100%. In just one case, HOT was interrupted for the appearance of local skin metastases close to the site of primary tumor. HOT showed itself to be safe and effective in most patients even those immunocompromised or critically ill

DAX-1 Expression in Pediatric Rhabdomyosarcomas: Another Immunohistochemical Marker Useful in the Diagnosis of Translocation Positive Alveolar Rhabdomyosarcoma

OBJECTIVES: The aim of this study was to investigate the expression of DAX-1 in a series of pediatric rhabdomyosarcomas (RMS) with known translocation and compare it to Ap2\u3b2, known to be selectively expressed in ARMS. DESIGN: We revised a series of 71 alveolar rhabdomyosarcomas (ARMS), enrolled in the Italian Protocols RMS 79 and 96, and 23 embryonal rhabdomyosarcomas (ERMS) as controls. Before investigating Ap2\u3b2 and DAX-1, ARMS were reviewed and reclassified as 48 ARMS and 23 non-ARMS. RESULTS: Translocation positive ARMS showed a characteristic Ap2\u3b2/DAX-1+ staining pattern in 78% of cases, while 76% of classic ERMS were negative for both. Ap2\u3b2 alone was positive in 3.9% of RMS lacking translocation, whereas DAX-1 alone was positive in 25.4%. Conversely, 9% and 6% of translocation positive ARMS were positive only for DAX-1 or Ap2\u3b2, respectively. The 23 non-ARMS shared the same phenotype as ERMS but had a higher frequency of DAX-1 expression. CONCLUSIONS: DAX-1 is less specific than Ap2\u3b2, however it is a sensitive marker for translocation positive ARMS and can be helpful in their diagnosis if used in combination with Ap2\u3b2

Bowel parasitosis and neuroendocrine tumours of the appendix. A report from the Italian TREP project

Five children with a neuroendocrine tumour (NET) of the appendix associated with a parasitic bowel infection are described, and the possibility of inflammation-triggered carcinogenesis is discussed. Schistosoma haematobium is linked primarily to bladder cancer but it has been reported in association with several other histotypes, including NETs of the gastrointestinal tract. Conversely, Enterobius vermicularis has not yet been claimed to participate in the onset of pre-cancerous conditions or tumours. The rare occurrence of contemporary appendiceal NETs and parasitic infection, raises the intriguing hypothesis of an inflammation-related carcinogenesis, although a cause-effect relationship cannot be established. Larger international series of childhood appendiceal NETs, which also include countries with higher prevalence of parasitic bowel infections, are needed to further clarify this possible cause-effect relationshi

Multidisciplinary expertise in the diagnosis of cecal lymphoma

This particular case highlights the importance of a multidisciplinary team expertise in the differential diagnostic process of acute abdominal pain. The case involves a 10-year old Chinese boy who presented with intermittent abdominal pain; the clinical and radiologic picture narrowed the differential diagnosis between an acute appendicitis and an intestinal lymphoma. Diagnosis of a high grade - B lymphoma was made by performing a colonoscopy; this procedure was deemed the best option to obtain a quick diagnosis with low invasiveness

Pheochromocytomas and paragangliomas in children: Data from the Italian Cooperative Study (TREP)

Pheochromocytomas (PCs) are neuroendocrine tumors arising from the chromaffin cells of the adrenal gland, and paragangliomas (PGLs) are their extra-adrenal counterparts arising from ganglia along the sympathetic/parasympathetic chain. Surgery is the cornerstone of treatment. A sporatic or inherited germline mutation is commonly associated

Long-term prognosis of patients with pediatric pheochromocytoma

A third of patients with paraganglial tumors, pheochromocytoma, and paraganglioma, carry germline mutations in one of the susceptibility genes, RET, VHL, NF1, SDHAF2, SDHA, SDHB, SDHC, SDHD, TMEM127, and MAX. Despite increasing importance, data for long-term prognosis are scarce in pediatric presentations. The European-American-Pheochromocytoma-Paraganglioma-Registry, with a total of 2001 patients with confirmed paraganglial tumors, was the platform for this study. Molecular genetic and phenotypic classification and assessment of gene-specific long-term outcome with second and/or malignant paraganglial tumors and life expectancy were performed in patients diagnosed at <18 years. Of 177 eligible registrants, 80% had mutations, 49% VHL, 15% SDHB, 10% SDHD, 4%NF1, and one patient each in RET, SDHA, and SDHC. A second primary paraganglial tumor developed in 38% with increasing frequency over time, reaching 50% at 30 years after initial diagnosis. Their prevalence was associated with hereditary disease (P=0.001), particularly in VHL and SDHD mutation carriers (VHL vs others, P=0.001 and SDHD vs others, P=0.042). A total of 16 (9%) patients with hereditary disease had malignant tumors, ten at initial diagnosis and another six during follow-up. The highest prevalence was associated with SDHB (SDHB vs others, P<0.001). Eight patients died (5%), all of whom had germline mutations. Mean life expectancy was 62 years with hereditary disease. Hereditary disease and the underlying germline mutation define the long-term prognosis of pediatric patients in terms of prevalence and time of second primaries, malignant transformation, and survival. Based on these data, gene-adjusted, specific surveillance guidelines can help effective preventive medicine.publishersversionPeer reviewe

Lesioni ano-genitali simulanti abuso sessuale su minore. Riflessioni medico-legali a margine di un caso di diretta osservazione

Gli autori presentano il caso di una bambina di 7 anni affetta da morbo di Crohn con manifestazioni cutanee metastatiche. La peculiarit\ue0 del quadro genito-anale induceva i curanti a sospettare, inizialmente, un abuso sessuale ed a segnalare subito il caso all\u2019autorit\ue0 giudiziaria. Successivamente, l\u2019approfondimento clinico ed il quadro istopatologico su biopsie cutanee e della mucosa intestinale consentivano di pervenire alla diagnosi corretta. Prendendo spunto da questa vicenda gli A.A. espongono quindi, alcune considerazioni sul dovere di denuncia all\u2019autorit\ue0 giudiziaria per i casi di sospetto abuso sessuale sui minori suggerendo l\u2019opportunit\ue0 di subordinare la segnalazione al raggiungimento di un\u2019adeguata spiegazione eziopatogenetica clinica delle vicende in esame, previa adeguata analisi di ogni utile elemento clinico e circostanziale. SUMMARY The authors describe a rare case of metastatic Crohn\u2019s disease presenting as suspected abuse in a 7-year-old girl. According to the clinical features of the perivulvar and perirectal lesions, the physicians transmitted a criminal prosecution. The clinical investigation, as well as skin and intestinal biopsy study allowed to achieve a correct diagnosis. Based on these findings, the authors make some observation about the duty of the report in the case of suspected sex child abuse, and suggest the opportunity to take a careful management in these circumstances

Clinical and pathologic considerations in a case of inflammatory myofibroblastic tumor of the spleen

Inflammatory myofibroblastic tumors, also called inflammatory pseudotumors, are rare pseudosarcomatous proliferations. Their behavior is generally not aggressive, but in most instances they can simulate malignant neoplasms, from which they are impossible to distinguish before excision. One case of myofibroblastic tumor of the spleen in a 5-year-old boy is described: the patient was treated with a partial splenectomy, which was found to be the best approach for diagnosis and treatment. The purpose of this report is to call attention to this entity with peculiar histologic and immunohistochemical characteristics, which has to be included in the differential diagnosis of splenic lesions and may be excised by a nonaggressive procedure