Patrizia Dall'Igna

Pancreatic tumors in children and adolescents: the Italian TREP project experience.

Malignant pancreatic tumors are exceedingly rare in pediatric age and their clinical features and treatment usually go unappreciated by most pediatric oncologists and surgeons.

Carcinoid tumor of the appendix in childhood: the experience of two Italian institutions.

Objectives: Although rare, carcinoid tumor of the appendix is the most common neoplasm of the gastrointestinal tract in children and adolescents. It is usually an incidental finding after a laparotomy for appendectomy, with a frequency of 2 to 5 cases per 1000 appendectomies. The experience with 14 cases of carcinoid reported in the appendix is described. Methods and results: In six patients the tumor measured 1 cm or less; only in one patient did it measure 2 cm. In three patients the tumor measured between 1 and 2 cm and in four the size was not known. In five cases the lesion had invaded the mesoappendix and periappendiceal fat. All tumors were discovered by chance, and three patients underwent further surgery as a result of suspected involvement of the margins. All the patients were alive with no evidence of disease at 24 to 214 months from diagnosis. Conclusions: Traditionally, local invasiveness and size have been considered prognostic factors. In our experience, both patients with local invasiveness and the patient with a tumor larger than 2 cm had good outcomes. Ileocolectomy performed in the patient with a 2-cm tumor and in another two patients with smaller tumors did not demonstrate residual disease. Although the need for right hemicolectomy still remains controversial for tumors measuring more than 2 cm, the approach may be nonaggressive in case of tumors invading the serosa and the periappendiceal fat. Nonaggressive treatment has been suggested by some authors in cases of tumors larger than 2 cm; however, larger series need to be evaluated.

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.

Sex cord stromal tumors of the ovary in children: a clinicopathological report from the Italian TREP project.

Ovarian sex‐cord stromal tumors (SCST) are rare in childhood and include a variety of neoplasms with different clinical features and biologic behavior. Aim of the analysis was to report the clinical findings and treatment results of a series of patients with SCST of the ovary, registered in a multi‐institutional Italian network on rare tumors in children and adolescent between 2000 and 2009.

Giant fibroadenoma of the breast in adolescents: Report of 2 cases

Giant fibroadenoma (GF) is an uncommon variant of fibroadenomas that represent the most frequent breast lesion in adolescents and young women. The authors present 2 cases of GF of the breast in girls aged 12 and 14 years, and the respective diagnostic workup and conservative surgical treatment. Giant fibroadenomas are benign tumors, but their rapid growth and large size together with their rarity may determine difficulties in the clinical approach. Moreover, GF must be excised in all cases to exclude a phyllodes tumor and to prevent later deformity.

Inflammatory myofibroblastic tumors in childhood: a report from the Italian Cooperative Group studies.

Inflammatory myofibroblastic tumors (IMTs) are myofibroblastic lesions with unpredictable biologic behavior that occur at a young age. For this report, the authors investigated clinicopathologic features in a series of pediatric IMTs. The objective of the study was to identify morphologic or immunohistochemical prognostic markers and the possible pathogenic role of human herpes virus 8 (HHV‐8).

Sentinel Node Biopsy in Pediatric Soft Tissue Sarcomas of Extremities

Sentinel Node Biopsy is an established staging technique in many adult malignancies. However, only few reports describe this procedure for the evaluation of regional lymph nodes in childhood and adolescents. Our experience with sentinel node biopsy in soft tissue sarcomas of extremities in children is reported.

Sex cord-stromal tumors of the testis in children. A clinicopathologic report from the Italian TREP project

PURPOSE Testicular sex cord-stromal tumors (SCSTs) are very rare in children and include a variety of neoplasms with different clinical features and biologic behavior. Aim of the study was to report the clinical findings and results observed in a series of patients with testicular SCST, registered in a multi-institutional Italian network on rare tumors in children and adolescents. MATERIALS AND METHODS The records of 11 patients, enrolled in 6 Italian centers from January 2000 to December 2008, were reviewed. The Childrens Oncology Group (COG) staging system was adopted. Chemotherapy was recommended in patients with incomplete surgery or metastatic disease. RESULTS A testicular mass was the most common symptom. All patients underwent primary removal of the tumor; orchiectomy with high ligation of spermatic cord was performed in 7 and tumor enucleation in 4. At histology, 4 patients had Leydig cell tumors, 4 juvenile granulosa cell tumors, 1 Sertoli cell tumor, 1 incompletely differentiated SCST, and 1 SCST with an intermediate pattern Sertoli cell tumor/mixed form. The histology of 8 of 11 cases was reviewed and investigated through immunohistochemical stains. Ten children were in stage I; 1 patient, who did not undergo hemiscrotectomy after enucleation through a transscrotal access, was considered stage II. All the patients are in first complete remission (mean follow-up, 59 months; range, 8-94). CONCLUSIONS Our experience confirmed the rarity of testicular SCST. They have to be considered in the differential diagnosis of testicular solid masses, taking into account that hormonal signs are present in a minority of cases. All patients were cured with surgery alone. The sparing surgery represented a choice in selected cases.

Features predicting unresectability in hepatoblastoma

Approximately 20% of patients who have hepatoblastoma (HB) still have unresectable disease after preoperative chemotherapy (POC). In these circumstances, orthotopic liver transplantation (OLT) should be performed 1 month after POC. The authors sought to identify presenting features that would predict unresectability in patients with HB and to provide suggestions for early referral and listing for OLT.

Biopsy or Debulking Surgery as Initial Surgery for Locally Advanced Rhabdomyosarcomas in Children? The Experience of the Italian Cooperative Group Studies

The purpose of the current study was to analyze the influence of the initial surgical approach (biopsy vs resection with macroscopic residual tumors) on the outcome of patients with localized Intergroup Rhabdomyosarcoma Study (IRS) Group III rhabdomyosarcoma (RMS) enrolled in the Italian studies between 1979 and 2003.