-
Modern Pathology : An Official Journal... Feb 2024Cemento-ossifying fibroma (COF) of the jaws is currently classified as a benign mesenchymal odontogenic tumor, and only targeted approaches have been used to assess its...
Cemento-ossifying fibroma (COF) of the jaws is currently classified as a benign mesenchymal odontogenic tumor, and only targeted approaches have been used to assess its genetic alterations. A minimal proportion of COFs harbor CDC73 somatic mutations, and copy number alterations (CNAs) involving chromosomes 7 and 12 have recently been reported in a small proportion of cases. However, the genetic background of COFs remains obscure. We used a combination of whole-exome sequencing and RNA sequencing to assess somatic mutations, fusion transcripts, and CNAs in a cohort of 12 freshly collected COFs. No recurrent fusions have been identified among the 5 cases successfully analyzed by RNA sequencing, with in-frame fusions being detected in 2 cases (MARS1::GOLT1B and PARG::BMS1 in one case and NCLN::FZR1 and NFIC::SAMD1 in the other case) and no candidate fusions identified for the remaining 3 cases. No recurrent pathogenic mutations were detected in the 11 cases that had undergone whole-exome sequencing. A KRAS p.L19F missense variant was detected in one case, and 2 CDC73 deletions were detected in another case. The other variants were of uncertain significance and included variants in PC, ACTB, DOK6, HACE1, and COL1A2 and previously unreported variants in PTPN14, ATP5F1C, APOBEC1, HDAC5, ATF7IP, PARP2, and ACTR3B. The affected genes do not clearly converge on any signaling pathway. CNAs were detected in 5/11 cases (45%), with copy gains involving chromosome 12 occurring in 3/11 cases (27%). In conclusion, no recurrent fusions or pathogenic variants have been detected in the present COF cohort, with copy gains involving chromosome 12 occurring in 27% of cases.
Topics: Humans; Cementoma; Fibroma, Ossifying; Odontogenic Tumors; Genomics; Protein Tyrosine Phosphatases, Non-Receptor; Adaptor Proteins, Signal Transducing; Ubiquitin-Protein Ligases
PubMed: 37995913
DOI: 10.1016/j.modpat.2023.100388 -
Journal of Oral and Maxillofacial... 2023Juvenile Ossifying Fibroma (JOF) is a type of ossifying fibroma which occurs in younger individuals and manifests as trabecular and psammomatoid variants. The nature and...
Juvenile Ossifying Fibroma (JOF) is a type of ossifying fibroma which occurs in younger individuals and manifests as trabecular and psammomatoid variants. The nature and behaviour of these variants vary, and they exhibit characteristic histopathological appearance. The solitary presentation of these subtypes is reported in numbers, but co-occurrence of both these entities is very few. Here, we present a case of JOF with the co-occurrence of both trabecular and psammomatoid variants in relation to an incompletely healed extraction socket.
PubMed: 38304505
DOI: 10.4103/jomfp.jomfp_443_23 -
Pediatric and Developmental Pathology :... 2023Evaluation of bone pathology within the head and neck region, particularly the gnathic bonesis is complex, demonstrating unique pathologic processes. In part, this... (Review)
Review
Evaluation of bone pathology within the head and neck region, particularly the gnathic bonesis is complex, demonstrating unique pathologic processes. In part, this variation is due to odontogenesis and the embryological cells that may be involved, which can contribute to disease development and histologic variability. As with any boney pathosis, the key is to have clinical correlation, particularly with radiographic imaging prior to establishing a definitive diagnosis. This review will cover those entities that have a predilection for the pediatric population, and while it is not all inclusive, it should serve as a foundation for the pathologist who is evaluating bony lesions involving the craniofacial skeleton.
Topics: Humans; Child; Bone and Bones; Neck; Neoplasms; Odontogenic Tumors
PubMed: 37232383
DOI: 10.1177/10935266231170744 -
Oral and Maxillofacial Surgery Clinics... May 2024Craniofacial fibro-osseous lesions represent a diverse spectrum of pathologic conditions where fibrous tissue replaces healthy bone, resulting in the formation of... (Review)
Review
Craniofacial fibro-osseous lesions represent a diverse spectrum of pathologic conditions where fibrous tissue replaces healthy bone, resulting in the formation of irregular, woven bone. They are more commonly diagnosed in young people, with treatment strategies dependent on clinical behavior and skeletal maturity. This article discusses the examples of craniofacial fibro-osseous lesions, based on the latest classifications, along with their diagnostic criteria and management.
PubMed: 38705816
DOI: 10.1016/j.coms.2024.03.004 -
Pathologie (Heidelberg, Germany) Nov 2023Osseous lesions are rare; however, their incidence is increased in childhood and adolescence. The spectrum of osseous processes in this age group is limited, with benign... (Review)
Review
Osseous lesions are rare; however, their incidence is increased in childhood and adolescence. The spectrum of osseous processes in this age group is limited, with benign lesions being much more prevalent than malignant tumors. For the differential diagnosis, it is essential to have in-depth knowledge of the more frequent bone diseases in children and adolescents. The current review presents these diseases based on the morphologic approach of the WHO classification, including giant cell-rich and cystic lesions, chondrogenic and bone-forming lesions [7]. Small round cell sarcomas which are now summarized in a separate chapter of the WHO classification have been described previously [12, 20].
Topics: Humans; Adolescent; Child; Bone Neoplasms; Giant Cells
PubMed: 37828376
DOI: 10.1007/s00292-023-01235-z -
Asian Journal of Surgery Aug 2023
Topics: Humans; Fibroma, Ossifying; Radius; Upper Extremity; Osteochondroma; Soft Tissue Neoplasms
PubMed: 36878781
DOI: 10.1016/j.asjsur.2023.02.074 -
BMJ Case Reports Jan 2024Ossifying fibroma is a type of fibro-osseous lesion categorised into cemento-ossifying fibroma and juvenile ossifying fibroma. Malignant transformation of fibro-osseous...
Ossifying fibroma is a type of fibro-osseous lesion categorised into cemento-ossifying fibroma and juvenile ossifying fibroma. Malignant transformation of fibro-osseous lesions is documented especially for fibrous dysplasia, but scarcity is seen when we search for malignant transformation of ossifying fibroma. Thus, we are presenting an extremely rare case of cemento-ossifying fibroma transforming into osteosarcoma with long sequential radiographic details.
Topics: Humans; Fibroma, Ossifying; Cementoma; Bone Neoplasms; Bone and Bones; Skull Neoplasms; Osteosarcoma
PubMed: 38233000
DOI: 10.1136/bcr-2023-257104