MAFFUCCIS-SYNDROME - THE RESULT OF NEURAL ABNORMALITIES - EVIDENCE OFMITOGENIC NEUROTRANSMITTERS PRESENT IN ENCHONDROMAS AND SOFT-TISSUE HEMANGIOMAS

Background. Maffucci's syndrome (MS) is distinguished by the enigmatic association of benign cartilaginous bone tumors and soft tissue heman giomas. Methods. This study was conducted to define the distribution o f nerves and neuropeptides around these tumors. Results were measured by quantitative image analysis of immunohistochemical staining. Four t ypes of tissues were compared: connective tissues around normal muscle s, solitary hemangiomas, MS hemangiomas, and MS enchondromas (the last two from a single patient). Results. The number of nerves was found t o be quadrupled in both types of hemangiomas as compared to normal con nective tissue. A unique feature of MS tissues is the presence of an i ncreased number of nerve fibers not only in the lesions but also in hi stologically normal margins of resection surrounding the lesions. Furt hermore, hemangiomas of both types were found to contain a significant ly higher number of calcitonin gene-related peptide-, substance P-, an d methionine enkephalin-positive fibers than did normal muscle or its related fibroconnective tissue. These neuropeptides are mitogens, and their presence stimulates the growth of the abnormal blood vessels. En chondroma fragments from an MS patient contained numerous methionine e nkephalin-positive nerves. This neuropeptide is known to act as a grow th factor in cartilage proliferation. Conclusions. A neural abnormalit y of the neuropeptidergic nervous system seems to relate to the abnorm al tumors seen in MS.