Gsα gene mutations in monostotic fibrous dysplasia of bone and fibrous dysplasia-like low-grade central osteosarcoma

2001 ◽  
Vol 439 (2) ◽  
pp. 170-175 ◽  
Author(s):  
K. Pollandt ◽  
C. Engels ◽  
E. Kaiser ◽  
M. Werner ◽  
G. Delling
Keyword(s):  
Fibrous Dysplasia ◽  
Gene Mutations ◽  
Low Grade ◽  
Gsα Gene ◽  
Fibrous Dysplasia Of Bone

Author response for "A signature of circulating miRNAs associated with Fibrous Dysplasia of bone: the mirDys study"

2020 ◽  
Author(s):  
M.A. Legrand ◽  
M. Millet ◽  
B. Merle ◽  
JC. Rousseau ◽  
A. Hemmendinger ◽  
...  
Keyword(s):  
Fibrous Dysplasia ◽  
Author Response ◽  
Fibrous Dysplasia Of Bone

Fibrous dysplasia of bone with Vitamin D resistant rickets: A case study

Metabolism ◽  
1968 ◽  
Vol 17 (11) ◽  
pp. 988-998 ◽  
Author(s):  
Will G. Ryan ◽  
Albert F. Nibbe ◽  
Theodore B. Schwartz ◽  
Robert D. Ray
Keyword(s):  
Vitamin D ◽  
Fibrous Dysplasia ◽  
Fibrous Dysplasia Of Bone ◽  
Vitamin D Resistant Rickets ◽  
Resistant Rickets

scholarly journals Pathophysiology and medical treatment of pain in fibrous dysplasia of bone

2012 ◽  
Vol 7 (Suppl 1) ◽  
pp. S3 ◽  
Author(s):  
Roland D Chapurlat ◽  
Deborah Gensburger ◽  
Juan M Jimenez-Andrade ◽  
Joseph R Ghilardi ◽  
Marilyn Kelly ◽  
...  
Keyword(s):  
Medical Treatment ◽  
Fibrous Dysplasia ◽  
Fibrous Dysplasia Of Bone

scholarly journals Clinical and translational pharmacological aspects of the management of fibrous dysplasia of bone

2018 ◽  
Vol 85 (6) ◽  
pp. 1169-1179 ◽  
Author(s):  
Marlous Rotman ◽  
Neveen Agnes Therese Hamdy ◽  
Natasha M. Appelman‐Dijkstra
Keyword(s):  
Fibrous Dysplasia ◽  
Fibrous Dysplasia Of Bone

FIBROUS DYSPLASIA OF BONE

1957 ◽  
Vol 234 (4) ◽  
pp. 590-606 ◽  
Author(s):  
MARVIN L. DAVES ◽  
JOHN H. YARDLEY
Keyword(s):  
Fibrous Dysplasia ◽  
Fibrous Dysplasia Of Bone

scholarly journals PATH-21. TELOMERE LENGTH ANALYSIS OF CNS TUMORS IN THE PEDIATRIC BRAIN TUMOR ATLAS

2020 ◽  
Vol 22 (Supplement_3) ◽  
pp. iii428-iii428
Author(s):  
Jo Lynn Rokita ◽  
Krutika Gaonkar ◽  
Heba Ijaz ◽  
Daniel Miller ◽  
Tasso Karras ◽  
...  
Keyword(s):  
Brain Tumor ◽  
Gene Mutations ◽  
Pediatric Brain Tumor ◽  
High Grade Glioma ◽  
Pediatric Brain Tumors ◽  
Low Grade ◽  
Alternative Lengthening ◽  
Length Analysis ◽  
Telomere Lengthening ◽  
Pediatric Brain

Abstract Subsets of pediatric cancers, including high grade glioma (pHGG), have high rates of uniquely long telomeres, associated with ATRX gene mutations and alternative lengthening of telomeres (ALT). Ultimately, these cancers may benefit from a therapy stratification approach. In order to identify and further characterize pediatric brain tumors with telomere lengthening (TL), we determined the intratelomeric content in silico from paired WGS of 918 tumors from CBTTC Pediatric Brain Tumor Atlas (PBTA). The results were highly concordant with experimental assays to determine ALT in a subset of 45 pHGG tumors from the set. Overall, 13% of the PBTA cohort had telomere lengthening. We confirmed the highest rate of TL (37%) in the pHGG cohort (37/100 tumors; 30/82 patients). There was no statistical difference in age, gender or survival in subset analysis. As expected, the patient pHGG tumors with telomere lengthening were enriched for ATRX mutations (60%, q= 1.76e-3). However, 6 tumors without ATRX mutation also had normal protein expression, suggesting a different mechanism of inactivation or TL. The pHGG tumors with telomere lengthening had increased mutational burden (q=8.98e-3) and included all known pHGG cases (n=6) in the cohort with replication repair deficiencies. Of interest, the second highest rate of telomere lengthening was 9 subjects (24%) in the craniopharyngioma cohort. None of the craniopharyngioma tumors had ATRX mutations or low ATRX expression, and 55% of those with TL had CTNNB1 mutations. Finally, lower rates of telomere lengthening were found in medulloblastoma (10%), ependymoma (10%), low grade astrocytoma (8%) and ganglioglioma (7/47, 15%).

scholarly journals McCune-Albright Syndrome with Exophthalmos: A Case Report

2018 ◽  
Author(s):  
Jinrong Zhao ◽  
Jinguo Yu
Keyword(s):  
Clinical Practice ◽  
Fibrous Dysplasia ◽  
Skin Pigmentation ◽  
Rare Condition ◽  
Skeletal Deformity ◽  
Mccune Albright Syndrome ◽  
Case Presentation ◽  
Fibrous Dysplasia Of Bone ◽  
Albright Syndrome ◽  
Mccune Albright

Abstract Background: McCune-Albright syndrome (MAS) is a rare disease defined by the triad of polyostotic fibrous dysplasia of bone, skin spots, and precocious puberty. No available treatment is effective in changing the course of fibrous dysplasia of bone, but symptomatic patients require the rapeutic support to reduce bone pain and prevent fractures and deformities.we reported 1 case of McCune-Albright syndrome with exophthalmos in clinical practice. Case presentation:A 35-year-old female was admitted to our hospital who complained about “skin pigmentation for 35 years, vaginal bleeding for 30 years and progressive skeletal deformity for 28 years and exophthalmos for 2 years. And after the examination, she was been diagnosed with“McCune-Albright syndrome with exophthalmos”.We highlighted the pathogenesis and development of the disease in this rare condition. Conclusion: McCune-Albright syndrome with exophthalmos due to multiple fibrous dysplasia is rare but can be seen in clinical practice.

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