Journal of Pathology and Translational Medicine

Original Article

Use of Calretinin, CD56, and CD34 for Differential Diagnosis of Schwannoma and Neurofibroma.: Ji Young Park, Hoon Park, Nam Jo Park, June Sik Park, Hyun Jung Sung, Sang Sook Lee; Korean J Pathol. 2011;45(1):30-35.; DOI: https://doi.org/10.4132/KoreanJPathol.2011.45.1.30

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BACKGROUND
It is important to differentiate between schwannomas and neurofibromas for the cases in which the histopathologic features overlap. Depending on the tumor type, surgeons can decide on a treatment method and whether to preserve or sacrifice the nerve; the possibility of malignant transformation in the case of neurofibromas also needs to be considered.
METHODS
We studied 101 cases of schwannoma and 103 cases of neurofibroma. All the hematoxylin and eosin slides for these cases were reviewed, and tissue microarrays were prepared from the representative areas. Immunohistochemical analysis was performed using antibodies for S-100 protein, calretinin, CD56 and CD34.
RESULTS
All the tumors except 3 neurofibromas were positive for the S-100 protein. Calretinin was found in 26.7% of the schwannomas (27/101), but it was not found in any of the neurofibromas. CD56 was positive in 77.2% of the schwannomas (78/101) and in 9.8% of the neurofibromas (10/102). CD34 was positive in 42.5% of the schwannomas (43/101) and in 80.2% of the neurofibromas (81/101). Statistically, calretinin was significantly specific for schwannomas (p<0.001) and CD56 was also sensitive for these tumors (p<0.001). On the other hand, a CD34 expression seemed highly sensitive (p<0.001) for neurofibromas.
CONCLUSIONS
We concluded that combined immunohistochemical analysis for calretinin, CD56, and CD34 may be very useful for differentiating schwannomas from neurofibromas.

Citations

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Case Reports

Benign Lymphoepithelial Cyst: A case report.: Jin Haeng Chung, Gyeong Hoon Kang, Je G Chi; Korean J Pathol. 1996;30(6):551-553.

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Abstract PDF: An intraparotid benign lymphoepithelial cyst is a rare disease characterized by unilateral painless swelling of parotid region. The histogenesis is controversial. Surgical excision is recommended for diagnosis and curative treatment. We present a case of benign lymphoepithelial cyst arising in a patient with neurofibromatosis. A 46-year-old woman presented with a slowly growing multilocular cystic mass in the left cheek. The cystic mass measured 4 cm in maximal outer diameter and the cystic wall was thick and yellowish pale to gray, soft with well circumscribed margin. Microscopically, the multilocular cyst was lined by stratified squamous epithelium for the most part and underlying lymphoid tissue aggregates with follicles and sharply demarcated from adjacent salivary parenchyma which is of normal appearance and without lymphoid aggregates. Since this lesion is absolutely benign, it is important to separate this benign cyst from cystic salivary gland tumors.

Multiple Plexiform Schwannomas Associated with Neurofibromatosis Type 2: A case report.: Ho Sung Park, Myoung Ja Chung, Myoung Jae Kang, Dong Geun Lee, Byung Cook Ahn; Korean J Pathol. 2000;34(5):389-392.

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Abstract PDF: Plexiform schwannoma is a rare benign tumor arising from the peripheral nerve sheath and characterized by a multinodular and plexiform growth pattern. This tumor usually arises sporadically. In rare cases, plexiform schwannomas have been associated with neurofibromatosis type 2. Plexiform schwannoma should be differentiated from plexiform neurofibroma, because the latter is pathognomonic tumor of neurofibromatosis type 1 and has a potential of malignant transformation. We report a case of multiple plexiform schwannomas associated with bilateral acoustic neuromas and meningioma.

Intraneural Perineurioma in the Tongue: A Case Report.: Jun Kang, Shin Kwang Khang, Jene Choi, Jeong Won Kim, Eul Ju Seo, Bu kyu Lee, Eunsil Yu; Korean J Pathol. 2007;41(1):51-54.

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Abstract PDF: We report a case of an intraneural perineurioma that developed in an unusual location, the tongue. A 16-year-old male presented with a 1 cm sized protruding submucosal mass in his tongue without any sensory or motor signs or symptoms. The mass was excised. The mucosa was intact, with an ill-defined firm mass measuring 1.0 x 0.8 x 0.6 cm in the submucosa and muscle. The cut surface of the mass was pinkish gray and fibrotic. Microscopically, the mass contained tortuous and thickened peripheral nerve bundles in the submucosa, showing onion bulb like structures. The onion bulb like structures consisted of centrally located S-100 protein positive Schwann cells surrounded by Glut-1 positive perineurial cells. The FISH study did not reveal any genetic aberrations in chromosome 22.

Gastrointestinal Stromal Tumors associated with Neurofibromatosis Type I: A Report of Two Cases.: Joo Heon Kim, Ock Seong In, Seong Kyu Lee, Haing Woon Baik, Seong Ho Kim, Dong Wook Kang, Kyung Hee Kim, Mee Ja Park, Yong Il Kim; Korean J Pathol. 2006;40(2):137-141.

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Abstract PDF: Gastrointestinal stromal tumor (GIST) is the most common non-epithelial neoplasm arising in the gastrointestinal tract, but this tumor is rarely seen in association with type 1 neurofibromatosis (NF-1). We report here on two cases of multiple GISTs of the small intestine that occurred in NF-1 patients. We also analyzed the mutations of c-kit exons 9, 11, 13 and 17 and the plateletderived growth factor receptor-alpha (PDGFRA) exons 12 and 18 in two GIST patients. Histologically, the NF-1-associated GISTs were similar to those of non-the NF-1 GISTs, but they characteristically revealed hyperplastic interstitial cells of Cajal around the GISTs. Immunohistochemically, these tumors showed strong co-expressions of CD117 and CD34. The molecular genetic analysis of the GISTs showed that all of the c-kit and PDGFRA exons that were analyzed in the GISTs of the two patients were the wild-type, suggesting a limited role for the c-kit and PDGFRA mutations in the tumorigenesis of NF-1-associated GISTs.

Original Articles

Clonal Analysis of Neurofibroma by PCR Amplification of HUMARA Gene.: Jae Hyuk Lee, Seung Sang Han, Hyun Sik Oh, Yoo Duk Choi, Hyun Joong Kim, Kyung Hwa Lee, Jong Hee Nam, Chan Choi, Sang Woo Juhng; Korean J Pathol. 2003;37(6):421-428.

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Abstract PDF: BACKGROUND
While neurofibromas have generally been regarded as polyclonal hyperplastic lesions, it remains unclear whether the tumor is a true neoplasm or a hyperplastic lesion.
METHODS
Determination of clonality by X chromosome inactivation pattern was investigated in twenty-one cases of neurofibroma employing enzyme digestion and PCR of the HUMARA gene. The histological, immunohistochemical, and ultrastructural characteristics of the tumors were also examined.
RESULTS
Immunohistochemically, most of the tumor cells showed vimentin and S-100 protein positivity. Axons were demonstrated by neurofilament protein positivity and were seen mainly at the periphery and rarely in the central portion of the tumor. Ultrastructurally, the tumors were composed of a variety of cell types: perineurial cells, Schwann cells, fibroblasts, and axons. X chromosome inactivation analysis was completed on thirteen out of fifteen cases in which DNA was successfully extracted. Of thirteen neurofibromas that were heterozygous at the HUMARA loci, eleven showed a polyclonal pattern. The remaining two cases were considered as indeterminate for clonality because of unequal band intensity and failure to obtain the normal control DNA.
CONCLUSION
The results from this study suggest that neurofibromas are polyclonal in origin and might be a neoplastic lesion comprising non-neoplastic cells among constituent components.

Diffuse Neurofibromas: Clinicopathologic Analysis of 11 cases.: So Young Park, Hye Kyung Lee, Se Min Baek; Korean J Pathol. 1995;29(2):181-188.

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Abstract PDF: We reviewed surgical specimens from 11 patients with diffuse neurofibroma to define the specific clinicopathologic characteristics. Ten cases were cutaneous neurofibromas and one case was an uncommon gastrointestinal neurofibroma involving the rectum. The most frequent sites of involvement were the head and neck, especially the eyelids and the periorbital areas. They usually presented as a plaque-like elevation of the skin. They primarily occured in children and young adults and positive family histories of von Recklinghausen's neurofibromatosis were obtained in 45.4%. Pathologically, the involved skin & rectum were diffusely thickened by an infiltrative growing mass, showing proliferation of short fusiform cells in the uniform matrix of fine fibrillary collagen. The characteristic prominence of Wagner-Meissner bodies (45.4%) suggests they could be associated with pathogenesis of diffuse neurofibroma. On the basis of these findings, we could confirm diffuse neurofibroma to be a distinct form of neurofibroma.

Optic Nerve Glioma with Neurofibromatosis.: Na Hye Myong, Seung Sook Lee, Yun Lim Shu, Je G Chi; Korean J Pathol. 1993;27(5):524-530.

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Abstract PDF: Optic nerve gliomas manifest either as a solitary form or a component of von Recklinghausen's neurofibromatosis. The reported incidence of coexistence with neurofibromatosis varies from 12% to 70%. Usually there are no significant cytological differences between the gliomas that accomapny the disease and those that are deemed to be solitary manifestations. The only possible difference between them is the apparently more common association, with the former, of extensive arachnoid hyperplasia and of a more florid local gliomatous infiltration into the leptomeninges, altogether resulting in perineural thickening. Our cases were 8 and 6 years old girls, respectively, presented with slowly progressive proptosis for 4 years and visual disturbance for 2.5 months. There were multiple cafe au lait spots on their trunks, and case 2 showed Lisch nodules in the iris. MRI of brain revealed unilateral optic nerve thickening with involvement of chiasm or multiple intracranial lesions. Resection of optic nerve tumor was performed. Microscopically, variable degree of tumorous change was seen. Most typically enlarged area was composed of intraneural and perineural portions surrounded by a layer of intact dura. Intraneural tumor revealed proliferation of elongated, spindle-shaped pilocytic astrocytes in intertrabecular spaces and distention of the pial septa with fibrovascular thickening. Another segment had areas with reactive gliosis. Perineural tissue was considerably thickened and, associated with proliferation of meningothelial cells and fibroblasts intermingled with astrocytes and Rosenthal fibers. There were increase of the optic nerve diameter and distention of the overlying dura. Foci of arachnoid cell hyperplasia were noted in both cases, although differed in degree. Immunohistochemically, the tumor cells expressed glial fibrillary acidic protein in intraneural and perineural portions particularly in case 2.

Case Report

A Case of Ocular Neurofibromatosis.: Je G Chi, In Ae Park; Korean J Pathol. 1987;21(1):62-65.

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Abstract PDF: Neurofibromatosis is one of the neurocristopathies that involve many system or tissues forming various types of lesion. Almost every tissue or organ can be involved by this disease. However, the eyeball itself is very rarely affected by this process. The findings seen in our case indicate the diversity of lesions in neurofibromatosis, and also suggest hamartomatous nature. Heterotopic ganglion cells and glial cells in uveal tract are not easily understood. We reported here a case of intra-occular neurofibromatosis with its characteristic involvement of the uveal tract, in a 21 year old female. Her ocular symptoms began at her age of 11 as poor vision and were slowly progressive together with multiple facial neurofibromas. The involved left eyeball showed many ganglioneuroglial cell nests in iris, ciliary body and retina. Minute plexiform neurofibromas were also seen in small nerve twigs around the eyeball.

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