This preprint is under consideration at Orphanet Journal of Rare Diseases. A preprint is a preliminary version of a manuscript that has not completed peer review at a journal. Research Square does not conduct peer review prior to posting preprints. The posting of a preprint on this server should not be interpreted as an endorsement of its validity or suitability for dissemination as established information or for guiding clinical practice.
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Background:
Craniopharyngioma (CP) and cranial fibrous dysplasia (CFD) are both rare embryonic benign cranial diseases that most commonly present during childhood or adolescence. Co-existence of CP and CFD is extremely rare, which has never been reported before.
Methods:
We retrospectively reviewed the data of 5 patients coexisted with CP and CFD in Beijing Tiantan Hospital from January 2003 to January 2021. Their clinicopathological features, treatment modalities, and outcomes were summarized. Moreover, a comprehensive literature review was conducted, and in order to explore the potential connection leading to this coexistence, the CFD characteristic GNAS gene and corresponding Gsα protein were tested in the CP
Results:
There were 4 males and 1 female (median age, 39 years) in the present series. The symptoms mainly included headache, dizziness, fatigue, polyuria/polydipsia, hypogonadism and blurred vision. Sphenoidal bone is the most common involved bone by CFD (n =4). Four patients had undergone surgery to remove the CP (1 transsphnoid and 3 transcranial). Complete and subtotal resection were achieved in 2 cases respectively. The tumor subtypes were 3 adamantinomatous, 1 unknown subtype. The common postoperative complications are pan-hypopituitarism, diabetes insipidus, and hypothyroidism. The mean follow-up time was 57.2 months. Postoperative hormone replacement was required in 2 patients. 3 patients underwent a genetic study of tumor specimens. GNAS mutations were not detected, but they were positive for Gsα protein.
Conclusions:
Though the definite causative relationship has not been proved, the coexistence of CP and CFD should not completely be excluded potential interplay or atypical FD course for the uncommon manifestations of CPs. Prompt diagnosis and appropriate treatment are more challenging than for solitary CPs for the deformations of skull base, as of now, management strategies are aimed at surgical treating the CP and regularly monitoring the CFD.
Keywords
Craniopharyngioma, Cranial Fibrous Dysplasia, Coexistence, Clinicopathologic Features, Treatment
Figure 1
Figure 2
Figure 3
Figure 4
Figure 5
This is a list of supplementary files associated with this preprint. Click to download.
- SupplementaryFigure1.tif
Supplementary Figure 1. DNA sequencing of GNAS in craniopharyngioma of case 2 and 3. The mutations in codon 227 and 201 of GNAS are the characteristic genes of fibrous dysplasia. No mutations were found in the craniopharyngioma samples of cases 2 and 3. Case 1 failed in the experiment because there were few cystic wall tissues of craniopharyngioma.
- Table1.docx
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CURRENT STATUS: Under Review
Version 1
Posted 12 Nov, 2021
No community comments so far
Reviews received
Received 18 Nov, 2021
Reviewers invited
Invitations sent on 10 Nov, 2021
Editor assigned
On 09 Nov, 2021
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On 08 Nov, 2021
Editor invited
On 08 Nov, 2021
First submitted
On 29 Oct, 2021
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Subject Areas
Internal Medicine
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This preprint is under consideration at Orphanet Journal of Rare Diseases. A preprint is a preliminary version of a manuscript that has not completed peer review at a journal. Research Square does not conduct peer review prior to posting preprints. The posting of a preprint on this server should not be interpreted as an endorsement of its validity or suitability for dissemination as established information or for guiding clinical practice.
Learn more about In Review
Research Article
Badges
Prescreen
This manuscript passed our Prescreen assessment
Complete author information
Appropriate declaration statements
Potential risks to human health
Prescreen
Peer Review Timeline
CURRENT STATUS: Under Review
Version 1
Posted 12 Nov, 2021
No community comments so far
Reviews received
Received 18 Nov, 2021
Reviewers invited
Invitations sent on 10 Nov, 2021
Editor assigned
On 09 Nov, 2021
Submission checks complete
On 08 Nov, 2021
Editor invited
On 08 Nov, 2021
First submitted
On 29 Oct, 2021
Metrics
Comments: 0
PDF Downloads: ...
HTML Views: ...
Subject Areas
Internal Medicine
License:
This work is licensed under a CC BY 4.0 License. Read Full License
Background:
Craniopharyngioma (CP) and cranial fibrous dysplasia (CFD) are both rare embryonic benign cranial diseases that most commonly present during childhood or adolescence. Co-existence of CP and CFD is extremely rare, which has never been reported before.
Methods:
We retrospectively reviewed the data of 5 patients coexisted with CP and CFD in Beijing Tiantan Hospital from January 2003 to January 2021. Their clinicopathological features, treatment modalities, and outcomes were summarized. Moreover, a comprehensive literature review was conducted, and in order to explore the potential connection leading to this coexistence, the CFD characteristic GNAS gene and corresponding Gsα protein were tested in the CP
Results:
There were 4 males and 1 female (median age, 39 years) in the present series. The symptoms mainly included headache, dizziness, fatigue, polyuria/polydipsia, hypogonadism and blurred vision. Sphenoidal bone is the most common involved bone by CFD (n =4). Four patients had undergone surgery to remove the CP (1 transsphnoid and 3 transcranial). Complete and subtotal resection were achieved in 2 cases respectively. The tumor subtypes were 3 adamantinomatous, 1 unknown subtype. The common postoperative complications are pan-hypopituitarism, diabetes insipidus, and hypothyroidism. The mean follow-up time was 57.2 months. Postoperative hormone replacement was required in 2 patients. 3 patients underwent a genetic study of tumor specimens. GNAS mutations were not detected, but they were positive for Gsα protein.
Conclusions:
Though the definite causative relationship has not been proved, the coexistence of CP and CFD should not completely be excluded potential interplay or atypical FD course for the uncommon manifestations of CPs. Prompt diagnosis and appropriate treatment are more challenging than for solitary CPs for the deformations of skull base, as of now, management strategies are aimed at surgical treating the CP and regularly monitoring the CFD.
Figure 1
Figure 2
Figure 3
Figure 4
Figure 5
This is a list of supplementary files associated with this preprint. Click to download.
- SupplementaryFigure1.tif
Supplementary Figure 1. DNA sequencing of GNAS in craniopharyngioma of case 2 and 3. The mutations in codon 227 and 201 of GNAS are the characteristic genes of fibrous dysplasia. No mutations were found in the craniopharyngioma samples of cases 2 and 3. Case 1 failed in the experiment because there were few cystic wall tissues of craniopharyngioma.
- Table1.docx
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