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European Journal of Cancer (Oxford,... Mar 2021Previous studies have not clearly identified a prognostic factor for desmoid tumours (DT). Whole-exome sequencing (WES) and/or RNA sequencing (RNA-seq) were performed in...
Previous studies have not clearly identified a prognostic factor for desmoid tumours (DT). Whole-exome sequencing (WES) and/or RNA sequencing (RNA-seq) were performed in 64 cases of DT to investigate the molecular profiles in combination with the clinicopathological characteristics. CTNNB1 mutations with specific hotspots were identified in 56 cases (87.5%). A copy number loss in chromosome 6 (chr6) was identified in 14 cases (21.9%). Clustering based on the mRNA expression profiles was predictive of the patients' prognoses. The risk score generated by the expression of a three-gene set (IFI6, LGMN, and CKLF) was a strong prognostic marker for recurrence-free survival (RFS) in our cohort. In risk groups stratified by the expression of IFI6, the hazard ratio for recurrence-free survival in the high-risk group relative to the low-risk group was 12.12 (95% confidence interval: 1.56-94.2; p = 8.0 × 10). In conclusion, CTNNB1 mutations and a chr6 copy number loss are likely the causative mutations underlying the tumorigenesis of DT while the gene expression profiles may help to differentiate patients who would be good candidates for wait-and-see management and those who might benefit from additional systemic or radiation therapies.
Topics: Adolescent; Adult; Aged; Biomarkers, Tumor; Chemokines; Child, Preschool; Chromosomes, Human, Pair 6; Cysteine Endopeptidases; DNA Mutational Analysis; Female; Fibromatosis, Aggressive; Gene Dosage; Gene Expression Profiling; Humans; MARVEL Domain-Containing Proteins; Male; Middle Aged; Mitochondrial Proteins; Mutation; Prognosis; RNA-Seq; Tokyo; Transcriptome; Exome Sequencing; Young Adult; beta Catenin
PubMed: 33444924
DOI: 10.1016/j.ejca.2020.12.001 -
Annals of the Royal College of Surgeons... Feb 2020Elastofibroma is a rare soft-tissue tumour. This study retrospectively analysed and summarised the clinical, imaging and typical pathological features, together with the...
OBJECTIVE
Elastofibroma is a rare soft-tissue tumour. This study retrospectively analysed and summarised the clinical, imaging and typical pathological features, together with the short- and long-term surgical outcomes of patients with pathologically confirmed soft-tissue elastofibroma to improve their management.
MATERIALS AND METHODS
We enrolled 73 patients with pathologically confirmed soft-tissue elastofibroma from January 2010 to December 2018. The general, clinical, diagnostic and treatment-related data, operation notes, pathological examination results and follow-up status were obtained by reviewing inpatient medical records. Disease onset age, sex, tumour location and size were statistically analysed using the chi square and rank sum tests.
RESULTS
A total of 90 lesions from 73 patients were examined. Among these, 56 patients had single lesions: 27 were under the right scapula, 26 were under the left scapula, 1 at the umbilicus, 1 on the aortic valve, 1 on the right hip and 17 at the bilateral inferior angles of the scapula. The average age at onset was 56.4 years (range: 6-82 years). The male-to-female incidence ratio was about one to three. Tumour diameter and follow-up duration ranged from 2cm to 12cm and from one month to nine years, respectively; recurrence was not observed. The main postoperative complication was wound effusion, occurring in 24 sites among the 90 lesions, corresponding to an incidence rate of 26.7%.
CONCLUSIONS
A correct diagnosis of elastofibroma can be made prior to surgical resection by examining typical clinical features and characteristic imaging findings. Short- and long-term outcomes of local excision are good, with no further recurrence.
Topics: Adult; Age of Onset; Aged; Aged, 80 and over; Child; Female; Fibroma; Follow-Up Studies; Humans; Incidence; Male; Middle Aged; Neoplasm Recurrence, Local; Postoperative Complications; Retrospective Studies; Sex Factors; Surgical Procedures, Operative; Treatment Outcome; Young Adult
PubMed: 31233334
DOI: 10.1308/rcsann.2019.0089 -
Nature Communications Jan 2024Dupuytren's disease (DD) is a highly heritable fibrotic disorder of the hand with incompletely understood etiology. A number of genetic loci, including Wnt signaling... (Meta-Analysis)
Meta-Analysis
Dupuytren's disease (DD) is a highly heritable fibrotic disorder of the hand with incompletely understood etiology. A number of genetic loci, including Wnt signaling members, have been previously identified. Our overall aim was to identify novel genetic loci, to prioritize genes within the loci for functional studies, and to assess genetic correlation with associated disorders. We performed a meta-analysis of six DD genome-wide association studies from three European countries and extensive bioinformatic follow-up analyses. Leveraging 11,320 cases and 47,023 controls, we identified 85 genome-wide significant single nucleotide polymorphisms in 56 loci, of which 11 were novel, explaining 13.3-38.1% of disease variance. Gene prioritization implicated the Hedgehog and Notch signaling pathways. We also identified a significant genetic correlation with frozen shoulder. The pathways identified highlight the potential for new therapeutic targets and provide a basis for additional mechanistic studies for a common disorder that can severely impact hand function.
Topics: Humans; Animals; Dupuytren Contracture; Genome-Wide Association Study; Hedgehogs; Wnt Signaling Pathway; Genetic Loci; Polymorphism, Single Nucleotide; Genetic Predisposition to Disease
PubMed: 38172110
DOI: 10.1038/s41467-023-44451-0 -
Frequency of Odontogenic Tumors: A Single Center Study of 1089 Cases in Japan and Literature Review.Head and Neck Pathology Jun 2022Several attempts have been made to classify odontogenic tumors; however, the need for a uniform international classification system led the World Health Organization... (Review)
Review
Several attempts have been made to classify odontogenic tumors; however, the need for a uniform international classification system led the World Health Organization (WHO) to present a classification of odontogenic tumors in 1971. We aimed to evaluate the number and types of odontogenic tumors examined at the Tokyo Dental College Hospital in Japan to determine the frequency and types of odontogenic tumors, based on the 2017 WHO classification system, as this information has not been reported previously in Japan. We also compared the results of our evaluation with those reported in previous studies. We conducted a clinicopathological evaluation of odontogenic tumors examined at the Tokyo Dental College Hospital between 1975 and 2020. This included an analysis of 1089 cases (malignant, n = 10, 0.9%; benign, n = 1079, 99.1%) based on the 2017 World Health Organization Classification of Head and Neck Tumors. We identified 483 (44.3%), 487 (44.7%), and 109 (10.0%) benign epithelial odontogenic, mixed odontogenic, and mesenchymal tumors, respectively. The most common tumor types were odontoma (42.5%) and ameloblastoma (41.9%). Of the 1089 cases, 585 (53.7%) and 504 (46.3%) were male and female patients, respectively. Ameloblastoma and ameloblastic fibroma occurred more commonly in male patients, whereas odontogenic fibroma and cemento-ossifying fibroma affected female patients primarily. The age at diagnosis ranged from three to 87 (mean, 29.05) years. In 319 (29.3%) patients, the age at diagnosis ranged from 10 to 19 years. Ameloblastoma and odontoma were the most common tumor types among patients in their 20s and those aged 10-19 years, respectively. In 737 (67.7%) and 726 (66.7%) patients, the tumors were located in the mandible and posterior region, respectively. Ameloblastoma was particularly prevalent in the posterior mandible. Odontogenic tumors are rare lesions and appear to show a definite geographic variation.
Topics: Ameloblastoma; Female; Fibroma, Ossifying; Humans; Japan; Male; Odontogenic Tumors; Odontoma; Retrospective Studies
PubMed: 34716904
DOI: 10.1007/s12105-021-01390-w -
Diagnostic Pathology Oct 2023Nevoid basal cell carcinoma syndrome (NBCCS, Gorlin syndrome) is a rare autosomal dominantly inherited disorder that is characterized by multisystem disorder such as... (Review)
Review
BACKGROUND
Nevoid basal cell carcinoma syndrome (NBCCS, Gorlin syndrome) is a rare autosomal dominantly inherited disorder that is characterized by multisystem disorder such as basal cell carcinomas, keratocystic odontogenic tumors and skeletal abnormalities. Bilateral and/or unilateral ovarian fibromas have been reported in individuals diagnosed with NBCCS.
CASE PRESENTATION
A 22-year-old female, presented with low back pain, and was found to have bilateral giant adnexal masses on pelvic ultrasonography, which had been suspected to be malignant ovarian tumors. Positron emission tomography/computed tomography showed multiple intracranial calcification and skeletal abnormalities. The left adnexa and right ovarian tumor were resected with laparotomy, and pathology revealed bilateral ovarian fibromas with marked calcification. We recommended the patient to receive genetic testing and dermatological examination. No skin lesion was detected. Germline testing identified pathogenic heterozygous mutation in PTCH1 (Patched1).
CONCLUSIONS
The possibility of NBCCS needs to be considered in patients with ovarian fibromas diagnosed in an early age. Skin lesions are not necessary for the diagnosis of NBCCS. Ovarian fibromas are managed with surgical excision with an attempt at preserving ovarian function. Follow-up regime and counseling on options for future fertility should be offered to patients.
Topics: Female; Humans; Young Adult; Adult; Basal Cell Nevus Syndrome; Fibroma; Ovarian Neoplasms; Odontogenic Cysts
PubMed: 37907964
DOI: 10.1186/s13000-023-01406-9 -
The Canadian Veterinary Journal = La... Feb 2022A 12-year-old, spayed female, Maltese dog with a round and firm mass on the dorsal part of the left rear paw and a cervical mass was brought to the clinic. The paw mass...
A 12-year-old, spayed female, Maltese dog with a round and firm mass on the dorsal part of the left rear paw and a cervical mass was brought to the clinic. The paw mass was contiguous to the adjacent tendon; it was composed of neoplastic mesenchymal cells and had scattered foci of calcification with chondroid differentiation microscopically. The neoplastic cells were positive for vimentin and S100, but negative for desmin and smooth muscle actin. Microscopic features and immunohistochemistry results were consistent with calcifying aponeurotic fibroma (CAF). The cervical mass was composed of polygonal cells forming acini with marked anisocytosis and anisokaryosis and diagnosed as thyroid follicular carcinoma. No recurrence or metastasis occurred during follow-up. To the best of our knowledge, this is the first case of canine CAF with features identical to its human counterparts. Key clinical message: This report describes the rare case of calcifying aponeurotic fibroma on the paw in a dog. This is apparently the first case in the veterinary literature with identical clinical and pathological features to the human counterpart.
Topics: Animals; Calcinosis; Dog Diseases; Dogs; Female; Fibroma; Fibroma, Ossifying; Soft Tissue Neoplasms
PubMed: 35110769
DOI: No ID Found -
Asian Journal of Surgery Nov 2022
Topics: Duodenum; Fibroma; Humans; Soft Tissue Neoplasms; Stomach Neoplasms
PubMed: 35701273
DOI: 10.1016/j.asjsur.2022.05.150 -
Archives of Pathology & Laboratory... Dec 2019Ossifying fibromyxoid tumor (OFMT) is a rare, slow-growing mesenchymal neoplasm of uncertain histogenesis with intermediate malignant potential. (Review)
Review
CONTEXT.—
Ossifying fibromyxoid tumor (OFMT) is a rare, slow-growing mesenchymal neoplasm of uncertain histogenesis with intermediate malignant potential.
OBJECTIVE.—
To highlight the most important diagnostic features, including morphologic, immunohistochemical, and molecular findings; to provide comparisons to other entities in the differential diagnosis; and to provide a summary of the clinical features and outcomes in cases reported to date.
DATA SOURCES.—
The data sources include recently published literature encompassing OFMT and tumors in the histologic differential diagnosis, and cases from institutional files.
CONCLUSIONS.—
Ossifying fibromyxoid tumor is important to recognize because of its low-grade morphology but potential for recurrence and metastasis. Recent molecular analysis has expanded the morphologic spectrum of OFMT, with additional cases discovered that are enriched for aggressive behavior. The diagnosis can often be rendered through a combination of morphology and coexpression of S100 protein and desmin, although only a minority of cases described contain all of these primary features. In cases that do not have all of these features, a high index of suspicion guided by morphology and exclusion of other tumors in the histologic differential diagnosis can lead to the correct diagnosis. Growing access to molecular genetic testing will become increasingly important for correct diagnosis of tumors at the ends of the morphologic spectrum.
Topics: Diagnosis, Differential; Fibroma, Ossifying; Humans; Soft Tissue Neoplasms
PubMed: 31765250
DOI: 10.5858/arpa.2019-0371-RA -
Actas Dermo-sifiliograficas Apr 2022
Topics: Fibroma; Humans; Skin Diseases
PubMed: 35623736
DOI: 10.1016/j.ad.2020.05.019 -
Acta Orthopaedica Et Traumatologica... Dec 2021The aim of this study was to determine the prognostic factors for recurrence in patients with extra-abdominal desmoid tumors (EDTs) treated surgically.
OBJECTIVE
The aim of this study was to determine the prognostic factors for recurrence in patients with extra-abdominal desmoid tumors (EDTs) treated surgically.
METHODS
This single-institution, retrospective study included patients with a histologically-proven extra-abdominal desmoid tumor between 2007 and 2018. The demographic characteristics (age, sex) of the patients, tumor characteristics (region, size, proximity to neurovascular structures, margins), treatment management (surgery and/or adjuvant radiotherapy), and clinical results were analyzed. The effects of these possible prognostic factors on overall and disease-free survival rates and the risk of local recurrence were evaluated.
RESULTS
Evaluation was made of 22 patients (16 females, 6 males) with a mean age at diagnosis of 34.7 years (range = 22-76 years). The mean follow-up was 104 months (range = 4.8-168). Tumor localization was in the upper extremity in 4 patients (18.1%), the lower extremity in 11 (50.0%), and the trunk in 7 (31.8%). The mean tumor size (maximum diameter) was 5.2 cm (range = 0.6-13 cm; median = 5.8 cm), and the mean tumor volume was 181.3 ± 531.4 ml. All the 22 patients were treated surgically along with adjuvant radiotherapy (RT) administered to 8 in addition to surgery for the primary treatment of the tumor. Following primary surgery, resection margins were R0 in 11 patients, R1 in 9 and R2 in 2. Local recurrence (LR) developed in 6 patients (27.2%) during the follow-up period. Recurrence-free survival rate (RFS) was 90.9% at one year, 74.1% at 5 years, and 61.7% at 10 years. During the follow-up, no patient died, and distant metastasis was not detected. Tumor length, resection margins, and adjuvant RT were observed to influence the risk of local recurrence (P < 0.05).
CONCLUSION
The results of this study have demonstrated that tumor size ≥ 5 cm and the presence of microscopic or macroscopic positive surgical margins can increase the risk of LR, and adjuvant RT can reduce the development of LR in the management of EDT.
Topics: Adult; Aged; Disease-Free Survival; Female; Fibromatosis, Aggressive; Humans; Male; Middle Aged; Neoplasm Recurrence, Local; Radiotherapy, Adjuvant; Retrospective Studies; Young Adult
PubMed: 34967745
DOI: 10.5152/j.aott.2021.21033