Hematopoietic neoplasms of bone
2022-12-02 Paola Dal Cin, PhD , Judith VMG Bovée Affiliation1.Brigham and Women's Hospital , Harvard Medical School, Boston , MA (USA)
2.Leiden University Medical Center, Leiden, The Netherlands
Keywords
Langerhans cell histiocytosis; Erdheim-Chester disease; Rosai-Dorfman disease;plasmacytoma;lymphomaaClassification
Definition
Discriminating lymphoma/leukemia from small, blue, round cell tumors or some non-sarcoma bone lesions may also be problematic correlation with the clinical and radiologic feature of the lesion, and ancillary techniques, as immunohistochemical and molecular genetic analyses, are useful tools to characterize these lesions. 1 Histiocytic disorders as Langerhans cell histiocytosis and Erdheim-Chester disease and sometime Rosai-Dorfman disease, are caused by mutations of the MAPK pathway, most often BRAFV600E, lending to the use of targeted-therapy (MEK and BRAF inhibitors) trial.2
| Hematopoietic neoplasms of bone neoplasms | |
|---|---|
| Solitary plasmacytoma of bone | Genetic aberrations similar to plasma cell myeloma. See WHO2017 Classification of Classification of Tumour of Haematopietic and Lymphoid Tissues |
| Primary non-Hodgkin lymphoma of bone | 80% of the cases are diffuse large cell lympoma. See WHO2017 Classification of Tumour of Haematopietic and Lymphoid Tissues |
| Langerhans cell histiocytosis | Activating mutation of the MAPK pathway (85%) mainly BRAF V600E (p.Val60oGlu) and MAP2K1 3 |
| Erdheim-Chester disease | Activating mutation of the MAPK pathway, mainly BRAF V600E (~50%) 4 or ARAF,NRAS, KRAS or MAP2K1 5 |
| Rosai-Dorfman disease | Mutually exclusive missense mutations in NRAS, KRAS, MAP2K1, ARAF and BRAF (~49%) in sporadic form, and germline mutation in SLC29A3 and FAS 6 |
Article Bibliography
| Reference Number | Pubmed ID | Last Year | Title | Authors |
|---|---|---|---|---|
| 1 | 31352990 | 2019 | Bone Pathology for Hematopathologists. | Peker D et al |
| 2 | 31115724 | 2019 | Systemic Histiocytosis (Langerhans Cell Histiocytosis, Erdheim-Chester Disease, Destombes-Rosai-Dorfman Disease): from Oncogenic Mutations to Inflammatory Disorders. | Papo M et al |
| 3 | 30157397 | 2018 | Langerhans-Cell Histiocytosis. | Allen CE et al |
| 4 | 22879539 | 2012 | High prevalence of BRAF V600E mutations in Erdheim-Chester disease but not in other non-Langerhans cell histiocytoses. | Haroche J et al |
| 5 | 32107533 | 2020 | Erdheim-Chester disease. | Haroche J et al |
| 6 | 29720485 | 2018 | Consensus recommendations for the diagnosis and clinical management of Rosai-Dorfman-Destombes disease. | Abla O et al |
Citation
Paola Dal Cin, PhD ; Judith VMG Bovée
Hematopoietic neoplasms of bone
Atlas Genet Cytogenet Oncol Haematol. 2022-12-02
Online version: http://atlasgeneticsoncology.org/solid-tumor/208977/hematopoietic-neoplasms-of-bone
