scholarly journals Malignant transformation of fibrous dysplasia into osteosarcoma confirmed with TP53 somatic mutation and mutational analysis of GNAS gene

Pathology ◽  
2020 ◽  
Author(s):  
Francis H.X. Yap ◽  
Benhur Amanuel ◽  
Chris Van Vliet ◽  
Marc Thomas ◽  
Daniel Wong
Keyword(s):  
Fibrous Dysplasia ◽  
Malignant Transformation ◽  
Somatic Mutation ◽  
Mutational Analysis ◽  
Gnas Gene

Osteosarcoma arising in fibrous dysplasia, confirmed by mutational analysis of GNAS gene

2018 ◽  
Vol 214 (2) ◽  
pp. 318-324 ◽  
Author(s):  
Yoshiya Sugiura ◽  
Hiroaki Kanda ◽  
Noriko Motoi ◽  
Kimie Nomura ◽  
Kentaro Inamura ◽  
...  
Keyword(s):  
Fibrous Dysplasia ◽  
Mutational Analysis ◽  
Gnas Gene

Secondary Aneurysmal Bone Cyst Simulating Malignant Transformation in Fibrous Dysplasia

Orthopedics ◽  
2000 ◽  
Vol 23 (11) ◽  
pp. 1205-1207
Author(s):  
Stefanos Bandiera ◽  
Patrizia Bacchini ◽  
Franco Bertoni
Keyword(s):  
Fibrous Dysplasia ◽  
Malignant Transformation ◽  
Aneurysmal Bone Cyst ◽  
Bone Cyst ◽  
Secondary Aneurysmal Bone Cyst

Mathematical modeling and mutational analysis reveal optimal therapy to prevent malignant transformation in grade II IDH-mutant gliomas

2021 ◽  
pp. canres.0985.2021
Author(s):  
Kosuke Aoki ◽  
Hiromichi Suzuki ◽  
Takashi Yamamoto ◽  
Kimiyo N Yamamoto ◽  
Sachi Maeda ◽  
...  
Keyword(s):  
Mathematical Modeling ◽  
Malignant Transformation ◽  
Mutational Analysis ◽  
Optimal Therapy ◽  
Grade Ii

A Novel GNAS Mutation Causing Isolated Infantile Cushing’s Syndrome

2019 ◽  
Vol 92 (3) ◽  
pp. 196-202
Author(s):  
Prapai Dejkhamron ◽  
Chupong Ittiwut ◽  
Hataitip TangNgam ◽  
Kanokkarn Sunkonkit ◽  
Rungrote Natesirinilkul ◽  
...  
Keyword(s):  
Fibrous Dysplasia ◽  
Precocious Puberty ◽  
Cushing’S Syndrome ◽  
De Novo ◽  
Cushing Syndrome ◽  
Skin Pigmentation ◽  
Cushing's Syndrome ◽  
Polyostotic Fibrous Dysplasia ◽  
Pneumocystis Jiroveci ◽  
Gnas Gene

Infantile Cushing’s syndrome is potentially found as part of McCune-Albright syndrome (MAS) which is caused by postzygotic somatic mutations of the GNAS gene. MAS is typically characterized by a triad of polyostotic fibrous dysplasia, café-au-lait skin pigmentation, and precocious puberty or other endocrine hyperfunction. Here, we describe a 2-month-old female infant with features of Cushing’s syndrome without café au lait spots, polyostotic fibrous dysplasia, and clinical evidence of other endocrine hyperfunction. Investigations demonstrated adrenocorticotropic hormone-independent Cushing’s syndrome with bilateral adrenal gland enlargement. Whole-exome sequencing of leukocytes identified a de novo heterozygous novel missense mutation (c.521G>A, p.Cys174Tyr) in the GNAS gene. The patient experienced clinical improvement of Cushing’s syndrome during ketoconazole treatment. Her clinical course was complicated by Pneumocystis jiroveci pneumonia. She also had shortened activated partial thromboplastin time indicating a hypercoagulable state and resulting in pulmonary embolism. She eventually manifested gonadotropin-independent precocious puberty at the age of 13 months after ketoco­nazole was discontinued. This patient demonstrated that Cushing syndrome can be the presenting sign of MAS in infancy. A high index of suspicion followed by genetic analysis is essential in order to establish a diagnosis.

scholarly journals McCune-Albright Syndrome with Acromegaly and Fibrous Dysplasia Associated with the GNAS Gene Mutation Identified by Sensitive PNA-clamping Method

2007 ◽  
Vol 46 (18) ◽  
pp. 1577-1583 ◽  
Author(s):  
Mari Imanaka ◽  
Keiji Iida ◽  
Hitoshi Nishizawa ◽  
Hidenori Fukuoka ◽  
Ryoko Takeno ◽  
...  
Keyword(s):  
Fibrous Dysplasia ◽  
Gene Mutation ◽  
Mccune Albright Syndrome ◽  
Gnas Gene ◽  
Albright Syndrome ◽  
Gnas Gene Mutation ◽  
Mccune Albright

Malignant transformation of fibrous dysplasia of the maxilla

2010 ◽  
Vol 64 (1) ◽  
pp. 121-122 ◽  
Author(s):  
A. I. Varghese ◽  
C. W. Harrop ◽  
W. P. Smith
Keyword(s):  
Fibrous Dysplasia ◽  
Malignant Transformation

scholarly journals Fibrous dysplasia: rapid malignant transformation into osteogenic sarcoma - A rare occurance

2012 ◽  
Vol 2 (4) ◽  
pp. 335-337 ◽  
Author(s):  
S Gon ◽  
B Majumdar ◽  
A Bhattacharyya ◽  
RN Bhattacharya
Keyword(s):  
Radiation Exposure ◽  
Fibrous Dysplasia ◽  
Malignant Transformation ◽  
Surgical Resection ◽  
Osteogenic Sarcoma ◽  
Extensive Search ◽  
Short Period ◽  
History Of ◽  
Lag Period ◽  
One Year

Malignant transformation of fibrous dysplasia is rare, occurring in less than 1% of cases with a mean lag period of 13.5 years. We report a case of Osteogenic Sarcoma with chondroid differentiation in a pre-existing Fibrous Dysplasia occurring within one year of surgical resection and without any history of exposure to radiation. To the best of our knowledge and extensive search of literature, malignant transformation of Fibrous Dysplasia in such a short period of time, and without history of radiation exposure has never been reported from India.Journal of Pathology of Nepal (2012) Vol. 2, 335-337DOI: http://dx.doi.org/10.3126/jpn.v2i4.6891

F-18 Fluorodeoxyglucose (FDG) PET in the Diagnosis of Malignant Transformation of Fibrous Dysplasia in the Pelvic Bones

2008 ◽  
Vol 33 (7) ◽  
pp. 469-471 ◽  
Author(s):  
Olivier Berrebi ◽  
Charles Steiner ◽  
A Keller ◽  
Anne-Laure Rougemont ◽  
Osman Ratib
Keyword(s):  
Fibrous Dysplasia ◽  
Malignant Transformation ◽  
Fdg Pet ◽  
Pelvic Bones
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