Neurofibromatosis and Associated Neuroectodermal Tumors: A Congenital Neurocristopathy

Abstract

The synchronous occurrence of neurofibromatosis and neuroblastoma has been labeled in the recent literature as a chance event. We report 2 cases of newborn infants with congenital neurofibromatosis and a similar midline pattern of multiple Schwann cell and neuroblastic tumors; other types of ectomesenchymal tumor differentiation are documented, along with supportive ultrastructural and immunohistochemical studies. The tumors may take an aggressive, fatal course despite maximal multimodality antitumor therapy. These 2 cases are reported, with additional literature review, to document a clinically recognizable neurocristopathy that links neuroblastic tumors and neurofibromatosis.

The emerging roles of ribosome biogenesis in craniofacial development

“…Furthermore, syndromic neurocristopathies may display both tumorigenic and hypoplastic components. For instance, several types of tumors specifically associated with neurocristopathies, can occur with one another or with the underlying neurocristopathic affliction (Qualman et al, 1986; Jensen et al, 1993). One example of neurocristopathic tumors are neuroblastomas consisting of cells that resemble undifferentiated mesenchymal NCCs and acquire characteristics of neurofibromas or ganglioneuromas upon tumor regression.…”

Syndrome‐associated soft tissue tumours

“…It should also be noted that myxoid neurofibromas are among the manifestations of NAME syndrome, as a subtype of the Carney complex, in addition to cutaneous pigmented lesions and atrial myxoma . Both plexiform and diffuse neurofibromas are thought to have a congenital origin and can present in infancy, although symptoms become more evident later in the first decade of life . Other manifestations of neurofibromatosis type 1 may be noted prior to recognition of the neurofibromas and include tibial bowing, congenital pseudarthrosis, long bone dysplasia, optic gliomas, macrocephaly and scoliosis .…”

“…117 Both plexiform and diffuse neurofibromas are thought to have a congenital origin and can present in infancy, although symptoms become more evident later in the first decade of life. 109,115,118,119 Other manifestations of neurofibromatosis type 1 may be noted prior to recognition of the neurofibromas and include tibial bowing, congenital pseudarthrosis, long bone dysplasia, optic gliomas, macrocephaly and scoliosis. 114,120 Neurofibromas arise most often in the skin, but may also originate in deep soft tissue, especially in association with a nerve plexus, major nerve trunk or medium-sized nerve.…”

“…Childhood cancers include optic glioma, other gliomas, rhabdomyosarcoma (especially of the urogenital tract), myelogenous leukaemia, osteosarcoma, neuroblastic tumours and Wilms' tumour. 56,118,[147][148][149][150] Patients with neurofibromatosis type 1 and MPNST have germline mutations of NF1 on chromosome 17q11.2, and biallelic mutations of NF1 are common. 151,152 In addition, most MPNSTs have complex numerical and structural karyotypic abnormalities without specific repetitive aberrations.…”

Neuroendocrine Basis of Human Disease

“…When surgery is difficult or impossible, a long‐acting somatostatin usually inhibits the abnormal secretion of the corresponding peptide. Some neurofibromatoses are now considered by some to be neurocristopathies,10 though it appears difficult to separate the original neurofibrosis lesion(s) from the often contemporary neuroblastic tumors.…”