Ciliated craniopharyngioma—case report and pathological study

Okada, Taiji; Fujitsu, Kazuhiko; Miyahara, Kosuke; Ichikawa, Teruo; Takemoto, Yasunori; Niino, Hitoshi; Yagishita, Saburou; Shiina, Takeki

doi:10.1007/s00701-009-0448-5

Cited by 14 publications

(8 citation statements)

References 2 publications

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“…Interestingly, strips of FOXJ1 positive motile ciliated columnar epithelium reminiscent of Rathke’s cleft cyst epithelium were also present in these two papillary craniopharyngioma cases (Figure 5f ) . These two cases presumably represent “ciliated craniopharyngiomas,” that have been reported, but only rarely (44). Notably, these two “ciliated craniopharyngioma” cases were both, as would be expected for papillary craniopharyngioma, positive for BRAF V600E by genotyping and immunohistochemistry (Supplemental figure 3).…”

Section: Resultsmentioning

confidence: 95%

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Distinct patterns of primary and motile cilia in Rathke's cleft cysts and craniopharyngioma subtypes

Coy

Sheu

et al. 2016

Modern Pathology

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Cilia are highly conserved organelles which serve critical roles in development and physiology. Motile cilia are expressed in a limited range of tissues, where they principally regulate local extracellular fluid dynamics. In contrast, primary cilia are expressed by many vertebrate cell types during interphase, and are intimately involved in the cell cycle and signal transduction. Notably, primary cilia are essential for vertebrate hedgehog pathway activity. Improved detection of motile cilia may assist in the diagnosis of some pathologic entities such as Rathke’s cleft cysts while characterizing primary cilia in neoplastic tissues may implicate cilia-dependent signaling pathways as critical for tumorigenesis. We show that immunohistochemistry for the nuclear transcription factor FOXJ1, a master regulator of motile ciliogenesis, robustly labels the motile ciliated epithelium of Rathke’s cleft cysts. FOXJ1 expression discriminates Rathke’s cleft cysts from entities in the sellar/suprasellar region with overlapping histologic features such as craniopharyngiomas. Co-immunohistochemistry for FOXJ1 and markers that highlight motile cilia such as acetylated tubulin (TUBA4A) and the small GTPase ARL13B further enhance the ability to identify diagnostic epithelial cells. In addition to highlighting motile cilia, ARL13B immunohistochemistry also robustly highlights primary cilia in formalin-fixed paraffin-embedded sections. Primary cilia are present throughout the neoplastic epithelium of adamantinomatous craniopharyngioma, but are limited to basally oriented cells near the fibrovascular stroma in papillary craniopharyngioma. Consistent with this differing pattern of primary ciliation, adamantinomatous craniopharyngiomas express significantly higher levels of SHH, and downstream targets such as PTCH1 and GLI2, compared to papillary craniopharyngiomas. In conclusion, motile ciliated epithelium can be readily identified using immunohistochemistry for FOXJ1, TUBA4A and ARL13B, facilitating the diagnosis of Rathke’s cleft cyst. Primary cilia can be identified by ARL13B immunohistochemistry in routine pathology specimens. The widespread presence of primary cilia in adamantinomatous craniopharyngioma implicates cilia-dependent hedgehog signaling in the pathogenesis of adamantinomatous craniopharyngioma.

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Section: Resultsmentioning

confidence: 95%

“…Previous studies have infrequently reported the identification of “ciliated papillary craniopharyngioma” with apical tufts of cilia on neoplastic epithelium (44). We observed two such cases in our cohort, and demonstrated that cells at the apical surface of the neoplastic squamous epithelium stain positively for FOXJ1 and ARL13B.…”

Section: Discussionmentioning

confidence: 99%

Distinct patterns of primary and motile cilia in Rathke's cleft cysts and craniopharyngioma subtypes

Coy

Sheu

et al. 2016

Modern Pathology

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“…30,34,68,77,78 As these rare lesions' epithelial cells undergo transformation and no longer exhibit ciliation, it has been proposed that they develop into the more characteristic stratified squamous cell epithelial cells traditionally observed in the squamouspapillary subtype of CP. 30,79 Finally, several cases of ciliated squamous-papillary CPs have been reported to arise directly from preexisting RCCs. 79,82,93 In one of these studies, Park et al 82 reported a case of an RCC with negative β-catenin accumulation that transitioned into a CP with positive β-catenin accumulation.…”

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confidence: 99%

“…30,79 Finally, several cases of ciliated squamous-papillary CPs have been reported to arise directly from preexisting RCCs. 79,82,93 In one of these studies, Park et al 82 reported a case of an RCC with negative β-catenin accumulation that transitioned into a CP with positive β-catenin accumulation. 82 A major limitation of these reports, however, is that for any given case it cannot been proven with certainty that a CP neoplasm actually arose from a preexisting RCC.…”

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confidence: 99%

Craniopharyngioma and other cystic epithelial lesions of the sellar region: a review of clinical, imaging, and histopathological relationships

Zada¹,

Lin²,

Ojerholm³

et al. 2010

FOC

229

182

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Object Cystic epithelial masses of the sellar and parasellar region may be difficult to differentiate on a clinical, imaging, or even histopathological basis. The authors review the developmental relationships and differentiating features of various epithelial lesions of the sellar region. Methods The authors performed a review of the literature to identify previous studies describing the etiological relationships and differentiating features of various cystic sellar lesions, including craniopharyngioma (CP), Rathke cleft cyst, xanthogranuloma, and dermoid and epidermoid cysts. Results There is significant evidence in the literature to support a common ectodermal origin of selected sellar and suprasellar cystic lesions, which may account for the overlap of features and transitional states observed in some cases. Research obtained from animal studies and reports of transitional cystic epithelial masses or lesions crossing over from typical to more aggressive pathological subtypes have collectively provided a solid foundation for this theory. Histological features that signify transitional entities beyond simple benign Rathke cleft cysts include squamous metaplasia, stratified squamous epithelium, and ciliated or mucinous goblet cells in squamous-papillary CPs. Several studies have identified key clinical, imaging, and histopathological features that can be used in the differentiation of these lesions. Conclusions The pattern of embryological formation of the hypothalamic-pituitary axis plays a major role in its propensity for developing cystic epithelial lesions. Subsequent inflammatory, metaplastic, and neoplastic processes may promote further progression along the pathological continuum, ranging from benign epithelial cysts to aggressive neoplastic cystic CPs. Selected clinical, imaging, and histopathological features can be used collectively to help differentiate these lesions and assign a formal diagnosis, thus accurately guiding further treatment.

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“…35 In the clinical setting, differentiation of craniopharyngioma and Rathke cleft cyst with squamous metaplasia is not always feasible. Currently, it is debated whether ciliated craniopharyngioma represents a transitional stage between craniopharyngioma and Rathke cleft cyst, 36 or is a distinct subtype of craniopharyngioma. Recently, Coy et al demonstrated two cases of ciliated craniopharyngioma with positive VE-1 immunostaining that showed FOXJ 1 expression.…”

Section: Discussionmentioning

confidence: 99%

High‐resolution melting and immunohistochemical analysis efficiently detects mutually exclusive genetic alterations of adamantinomatous and papillary craniopharyngiomas

et al. 2017

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Craniopharyngioma consists of adamantinomatous and papillary subtypes. Recent genetic analysis has demonstrated that the two subtypes are different, not only in clinicopathological features, but also in molecular oncogenesis. Papillary craniopharyngioma (pCP) is characterized by a BRAF mutation, the V600E (Val 600 Glu) mutation. Adamantinomatous craniopharyngioma (aCP) can be distinguished by frequent β-catenin gene (CTNNB1) mutations. Although these genetic alterations can be a diagnostic molecular marker, the precise frequency of these mutations in clinical specimens remains unknown. In this study, we first evaluated BRAF V600E and CTNNB1 mutations in four and 14 cases of pCP and aCP, respectively, using high-resolution melting analysis followed by Sanger sequencing. The results showed that 100% (4/4) of pCP cases had BRAF V600E mutations, while 78% (11/14) of the aCP cases had CTNNB1 mutations, with these genetic alterations being subtype-specific and mutually exclusive. Second, we evaluated BRAF V600E and CTNNB1 mutations by immunohistochemical analysis (IHC). All pCP cases showed positive cytoplasmic staining with the BRAF V600E-mutant antibody (VE-1), whereas 86% (12/14) of aCP cases showed positive cytoplasmic and nuclear staining for CTNNB1, suggesting a CTNNB1 mutation. Only one case of wild-type CTNNB1 on the DNA analysis showed immunopositivity on IHC. We did not detect a coexistence of BRAF V600E and CTNNB1 mutations in any single tumor, which indicated that these genetic alterations were mutually exclusive. We also report our modified IHC protocol for VE-1 staining, and present the possibility that BRAF V600E mutations can be used as a diagnostic marker of pCP in the differentiation of Rathke cleft cyst with squamous metaplasia.

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Ciliated craniopharyngioma—case report and pathological study

Abstract: The clinical course for this case is discussed together with a review of the pathological literature for ciliated craniopharyngioma.

Cited by 14 publications

References 2 publications

Distinct patterns of primary and motile cilia in Rathke's cleft cysts and craniopharyngioma subtypes

Distinct patterns of primary and motile cilia in Rathke's cleft cysts and craniopharyngioma subtypes

Craniopharyngioma and other cystic epithelial lesions of the sellar region: a review of clinical, imaging, and histopathological relationships

High‐resolution melting and immunohistochemical analysis efficiently detects mutually exclusive genetic alterations of adamantinomatous and papillary craniopharyngiomas

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