Miguel Reyes-Mugica
Section of Pathology
Department of Pediatrics
miguel.reyes@yale.edu

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Research
I am currently involved in studies of childhood tumors and defects of neural crest cell migration. In the first group, we are studying neuroblastoma, a neural crest derived neoplasm with heterogenous biology and clinical behavior, in which the therapeutic advances have developed with difficulty. We have shown that lack of deleted in colorectal cancer [DCC] expression by neuroblastoma correlates with advanced clinical stage and metastatic status. According to our results, DCC plays an independent role in the behavior of this tumor, probably separate from that of MYCN and histologic parameters, which opens another potential avenue for understanding the biology of neuroblastoma.

In the area of neural crest cell migration, Hirschsprung disease (congenital megacolon) represents a condition in which ganglion cells are absent in the colonic nerve plexi, leading to chronic constipation. Studies to improve our diagnostic approach based on histologic examination being conducted.

Another rare condition involving abnormal neural crest cell migration and proliferation is Neurocutaneous Melanosis. Patients present with large (giant) congenital nevi and meningeal/brain melanocytic proliferations. Studies of the clonality, chromosomal aberrations, allelic loss and mutation of melanoma-related genes in these lesions are in progress.

I am also involved in the study of all pediatric surgical specimens and autopsies, the elaboration of appropriate clinico-pathological correlations in these cases, and providing support to clinical projects in the Department of Pediatrics.