Our genotype-phenotype study of c.2002A>G illustrates that an extremely low level of PMS2 expression likely delays cancer onset, a feature that could be exploited in cancer preventive intervention.
CMV presence is uncommon in colonic mucosa of children with IBD. Studies examining the underlying sero-prevalence of CMV and its role of reactivation of colitis are required to determine if the current recommendation for routine sigmoidoscopy to exclude CMV infection in corticosteroid-refractory acute severe colitis is justified.
Myxoinflammatory fibroblastic sarcoma (MIFS), originally described as a low-grade malignant soft-tissue tumor in adults, has recently been reported in children and in non-acral sites. This report describes the clinicopathologic features of a series of 5 MIFS in children and adolescents (3 males, 2 females), ranging in age from 5 to 17 years (mean, 13 years). These tumors presented as small, superficial, slowly growing soft-tissues masses of the scalp, neck, middle finger, forearm, and thigh. Histologically, the tumors were composed of spindled and plump polygonal cells with prominent nuclear pleomorphism, nuclear pseudoinclusions; large eosinophilic nucleoli; myxoid foci intermingled with spindled foci; and an accompanying inflammatory infiltrate of lymphocytes, plasma cells, and variable neutrophils. Immunohistochemical analysis revealed variable reactivity for CD34 and smooth muscle actin in the tumor cells. Genetic analysis in 3 cases showed no rearrangements of TGFBR3 or MGEA5. Follow up in 4 cases revealed no recurrence or metastasis. These 5 cases of childhood and adolescent MIFS demonstrate an expanded age range and topographic distribution and a favorable outcome. The differential diagnosis and importance of recognizing this rare neoplasm in young patients are discussed.
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