Multifocal osteoclast-rich tumour in Paget bone disease and conventional giant cell tumour, two genetically distinct entities? Sequencing from a single case

Review Cell Biology

Update on the pathogenesis and genetics of Paget's disease of bone

Luigi Gennari et al.

Summary: Studies have revealed major advances in the pathogenesis of Paget's disease of bone (PDB) over the past two decades, particularly in understanding the role of genetic factors. Various germline mutations in different genes have been identified as possible causes of PDB, with most of these genes involved in regulating osteoclast differentiation and function. This review summarizes the most important advances made in the cellular and molecular biology of PDB in recent years.

FRONTIERS IN CELL AND DEVELOPMENTAL BIOLOGY (2022)

Add to Collection

Article Biochemistry & Molecular Biology

Aberrant paracrine signalling for bone remodelling underlies the mutant histone-driven giant cell tumour of bone

Lucia Cottone et al.

Summary: Oncohistones provide compelling evidence for the role of epigenetic perturbations in cancer. Giant cell tumors of bone (GCTs) are characterized by a mutated histone H3.3 as the sole genetic driver in bone-forming osteoprogenitor cells. We show that the H3.3-G34W mutation leads to changes in the transcriptome and epigenome of mesenchymal cells, resulting in increased recruitment of osteoclasts. This mechanism helps explain the response of GCT to denosumab, a drug that depletes osteoclasts in the tumor.

CELL DEATH AND DIFFERENTIATION (2022)

Add to Collection

Article Endocrinology & Metabolism

Mutations in Profilin 1 Cause Early-Onset Paget's Disease of Bone With Giant Cell Tumors

Zhe Wei et al.

Summary: Paget's disease of bone (PDB) is a rare late-onset chronic progressive bone disease, while some cases can progress to the development of malignant giant cell tumors (GCTs) of the bone. Mutations in the PFN1 gene may be the pathological mechanism underlying PDB/GCT.

JOURNAL OF BONE AND MINERAL RESEARCH (2021)

Add to Collection

Article Orthopedics

Retrospective cohort study of 68 sacral giant cell tumours treated with nerve-sparing surgery and evaluation on therapeutic benefits of denosumab therapy

C. Y. Lim et al.

BONE & JOINT JOURNAL (2020)

Add to Collection

Letter Endocrinology & Metabolism

Clinical Guidelines on Paget's Disease of Bone

Stuart H. Ralston et al.

JOURNAL OF BONE AND MINERAL RESEARCH (2019)

Add to Collection

Article Genetics & Heredity

ZNF687 Mutations in Severe Paget Disease of Bone Associated with Giant Cell Tumor

Giuseppina Divisato et al.

AMERICAN JOURNAL OF HUMAN GENETICS (2016)

Add to Collection

Article Oncology

Long-term follow-up of patients with giant cell tumor of the sacrum treated with selective arterial embolization

PP Lin et al.

CANCER (2002)

Add to Collection

Multifocal osteoclast-rich tumour in Paget bone disease and conventional giant cell tumour, two genetically distinct entities? Sequencing from a single case

Related references

Update on the pathogenesis and genetics of Paget's disease of bone

Aberrant paracrine signalling for bone remodelling underlies the mutant histone-driven giant cell tumour of bone

Mutations in Profilin 1 Cause Early-Onset Paget's Disease of Bone With Giant Cell Tumors

Retrospective cohort study of 68 sacral giant cell tumours treated with nerve-sparing surgery and evaluation on therapeutic benefits of denosumab therapy

Clinical Guidelines on Paget's Disease of Bone

ZNF687 Mutations in Severe Paget Disease of Bone Associated with Giant Cell Tumor

Long-term follow-up of patients with giant cell tumor of the sacrum treated with selective arterial embolization

Export Citation

Share Paper