A relationship exists between tumours and malformations both generally and in particular combinations. This is also valid for minor errors of morphogenesis suggesting that embryonic tumours are an expression of aberrant intra-uterine morphogenesis. We speculated that these minor aberrations might also manifest in other morphological defects, especially in minor anomalies and malformations of the ribs. We reviewed chest roentgenographs of 1000 children with malignancies for rib anomalies and compared them to 200 patients with mainly infectious diseases. We found 242 rib anomalies in 218 children with tumours (21.8%) and 11 (5.5%) in children without malignancy. This difference was statistically highly significant (P less than 0.001). A high incidence of cervical ribs was found in neuroblastoma (33%), brain tumour (27.4%), leukaemia (26.8%), soft tissue sarcoma (24.5%), Wilms tumour (23.5%) and Ewing sarcoma (17.1%). Only neuroblastoma showed a high incidence of rib bifurcation (4.5%). The increased incidence of these mesenchymal defects in children with malignancies may be another clue for an altered morphogenesis in tumour origin. In neuroblastoma the rib anomaly may be another expression of neurocristopathy as proposed for the association of congenital heart disease and neuroblastoma.
Purpose: We aimed to test the hypothesis that medulloblastoma (MB) variants show a different age distribution and clinical behavior reflecting their specific biology, and that MB occurring at very young age is associated with cancer predisposition syndromes such as Gorlin syndrome (GS). Experimental Design: We investigated the frequency, age distribution, location, response to treatment, outcome, and association with familial cancer predisposition syndromes in a series of 82 cases of MB in patients ages <14 years diagnosed at the Giannina Gaslini Children's Hospital, Genoa, between 1987 and. Results: Desmoplastic MB and MB with extensive nodularity (MBEN), were present in 22 of 82 cases (27%) and were more frequent in children ages V3 years (13 of 25; 52%). In this age group, MBEN was significantly more frequent than desmoplastic MB and classic MB (P < 0.001) and had a good prognosis. MBEN was associated with GS in 5 of 12 cases. Overall, 8 cases occurred in the context of familial tumor predisposition syndromes (5 GS, 1 each NF1, LiFraumeni, and Fragile X) and 7 of these patients were ages V3 years at diagnosis. Desmoplastic histology and a more intensive treatment represented independent favorable prognostic factors in multivariate analysis (P = 0.003 and P = 0.0139, respectively). Metastasis was a predictor of bad outcome (P = 0.0001). Conclusions: Our data indicate that biologically different MB entities warrant risk-adapted treatment and that MBEN is strongly associated with GS. Patients, ages V3 years, with MB and their families should be investigated for tumor predisposition syndromes such as GS. Medulloblastoma (MB) with extensive nodularity (MBEN)occurring in young children is a rare but well-defined entity (1 -3). It is believed to be related to, but distinct from, desmoplastic MB (DMB). However, many aspects of this peculiar entity are still unclear, including its frequency, why it occurs at a very young age, why its prognosis is good, and its association with Gorlin syndrome (GS) or nevoid basal cell carcinoma syndrome. Most of the largest cooperative trials that have been published on MB in infants do not report on the relative frequency of this distinct entity compared with other variants and/or comment on the effect of the diagnosis of this variant on subsequent follow-up and treatment strategies (4 -6). A large prospective study by Eberhart reported that 73 of 330 (22%) cases had various degrees of desmoplasia and 14 of 330 cases were MBEN (4.2%; ref. 7). A more recent, extensive neuropathogical review focused on the morphologic features and biological behavior of 2 large contemporaneous cohorts of patients with MB and showed that DMB represents 5% of all MB and up to 57% of cases in children ages <3 years (3). A recent prospective, cooperative trial reported that desmoplastic histologic variants have a clearly favorable effect on prognosis in infants with MB who are treated with chemotherapy (CT) as first-line therapy. However, it did not mention the frequency of Imaging, Diagnosis, Pro...
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