Neuronavigational approach for orbital neurofibroma excision: a case report

Orbital neurofibromas are uncommon in adults, accounting for approximately 1%-3% of all space occupying lesions of the orbit. The complex anatomy of the orbital region, with the pronounced vulnerability of its neurovascular structures, requires particular surgical precautions. Neuronavigation, as a high-tech device for intraoperative safety, represents a valuable option for the confined orbital space. However, the application of neuronavigation in orbital surgery has been rarely reported. The authors present a case report of a 32-year-old female with an isolated localized neurofibroma surgically approached by intraoperative navigation and a review of the literature

Malignant peripheral nerve sheath tumor of the cervical vagus nerve in a neurofibromatosis type 1 patient - An unusual presentation

Malignant peripheral nerve sheath tumors (MPNST’S) of the head and neck comprise 2% to 6% of head and neck sarcomas. These tumors may arise as sporadic variants or in patients with neurofibromatosis (NF). Development of these MPNST’s is one of the serious complications of neurofibromatosis type 1(NF1). To our knowledge there are only two reported cases of MPNST’s arising in the cervical vagal nerve, occurring in NF1 patients. We present here an NF1 patient who developed an MPNST of the cervical vagus nerve and presented only with a cervical swelling and hoarseness

Characterizing the immune microenvironment of malignant peripheral nerve sheath tumor by PD-L1 expression and presence of CD8+ tumor infiltrating lymphocytes.

BackgroundMalignant peripheral nerve sheath tumor (MPNST) is an aggressive sarcoma with few treatment options. Tumor immune state has not been characterized in MPNST, and is important in determining response to immune checkpoint blockade. Our aim was to evaluate the expression of programmed death-ligand 1 (PD-L1), programmed cell death protein 1 (PD-1), and presence of CD8+ tumor infiltrating lymphocytes (TILs) in MPNST, and correlate these findings with clinical behavior and outcome.ResultsPD-L1 staining of at least 1% was seen in 0/20 nerves, 2/68 benign lesions and 9/53 MPNST. Two of 68 benign lesions and 7/53 (13%) MPNST had at least 5% PD-L1 staining. CD8 staining of at least 5% was seen in 1/20 (5%) nerves, 45/68 (66%) benign lesions and 30/53 (57%) MPNST. PD-L1 was statistically more prevalent in MPNST than both nerves and benign lesions (p=0.049 and p=0.008, respectively). Expression of PD-1 was absent in all tissue specimens. There was no correlation of PD-L1 or CD8 expression with disease state (primary versus metastatic) or patient survival.MethodsA comprehensive PNST tissue microarray was created from 141 surgical specimens including primary, recurrent, and metastatic MPNST (n=53), neurofibromas (n=57), schwannoma (n=11), and normal nerve (n=20). Cores were stained in triplicate for PD-L1, PD-1, and CD8, and expression compared between tumor types. These data were then examined for survival correlates in 35 patients with primary MPNST.ConclusionsMPNST is characterized by low PD-L1 and absent PD-1 expression with significant CD8+ TIL presence. MPNST immune microenvironment does not correlate with patient outcome

Integrative analysis identifies candidate tumor microenvironment and intracellular signaling pathways that define tumor heterogeneity in NF1

Neurofibromatosis type 1 (NF1) is a monogenic syndrome that gives rise to numerous symptoms including cognitive impairment, skeletal abnormalities, and growth of benign nerve sheath tumors. Nearly all NF1 patients develop cutaneous neurofibromas (cNFs), which occur on the skin surface, whereas 40-60% of patients develop plexiform neurofibromas (pNFs), which are deeply embedded in the peripheral nerves. Patients with pNFs have a ~10% lifetime chance of these tumors becoming malignant peripheral nerve sheath tumors (MPNSTs). These tumors have a severe prognosis and few treatment options other than surgery. Given the lack of therapeutic options available to patients with these tumors, identification of druggable pathways or other key molecular features could aid ongoing therapeutic discovery studies. In this work, we used statistical and machine learning methods to analyze 77 NF1 tumors with genomic data to characterize key signaling pathways that distinguish these tumors and identify candidates for drug development. We identified subsets of latent gene expression variables that may be important in the identification and etiology of cNFs, pNFs, other neurofibromas, and MPNSTs. Furthermore, we characterized the association between these latent variables and genetic variants, immune deconvolution predictions, and protein activity predictions

Schwannoma of the tongue in a child

A schwannoma or neurilemmoma is a benign, slow growing, usually solitary and encapsulated tumour originating from Schwann cells of the nerve sheath. Approximately 25-40% of all schwannomas are seen in the soft tissues of the head and neck, often originate from the acoustic nerve. Intraoral schwannomas are rare and account for 1% of schwannomas of the head and neck region. We report the case of a 10-year-old boy diagnosed with a schwannoma of the tongue. The purpose of this report is to emphasize the possibility of diagnosing schwannoma among all other lingual lesions in children. The disease itself was diagnosed histologically after complete surgical excision. Five years after surgical treatment, the patient is without signs of recurrence. This paper highlights the importance of a multidisciplinary approach in the diagnosis and surgical treatment of this very rare entity

Neurofibroma of lumbosacral region: a case report

Neurofibromas are benign tumors of the peripheral nerve sheath. Spinal neurofibroma often asymptomatic. Symptoms may present include sensory changes. Neurofibroma mostly encountered cervical cord, difficult to distinguish from schwannomas. This slow growing tumor remodel the bone resulting pedicle thinning and posterior vertebral body scalloping. MRI shows hyperintense rim. Although this highly suggestive neurofibroma, occasionally also seen in schwannoma and malignant PNST. Treatment choice for symptomatic lesions is surgery. We are reporting a case of neurofibroma in the 5th lumbar and 1st sacral region