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Journal of Pharmacy & Bioallied Sciences Jul 2023The soft tissue tumor lipoma is quite frequent. Although it is the most mesenchymal tumor of the trunk and proximal regions of the extremities, it is quite uncommon to...
The soft tissue tumor lipoma is quite frequent. Although it is the most mesenchymal tumor of the trunk and proximal regions of the extremities, it is quite uncommon to find it on the oral mucosa, accounting for just 1% to 5% of benign oral tumors. There is no specific location that is more prone to lipoma development in the mouth. Some frequent sites are the tongue, buccal mucosa, and the mouth's floor. A Yellowish mass with no symptoms is the normal clinical appearance. In most cases, the overlaying epithelium is unharmed, and superficial blood vessels may be seen passing through and around the tumor. The differential diagnosis might also include granular cell tumors, neurofibroma, traumatic fibroma, and diseases of the salivary glands (mucocele and mixed tumor). Herein a detailed case of a 28-year-old woman with a right-sided lower-lip oral lipoma is presented in this paper.
PubMed: 37693971
DOI: 10.4103/jpbs.jpbs_143_23 -
Modern Pathology : An Official Journal... Jul 2023Sinonasal myxoma (SNM) is a rare benign mesenchymal tumor that arises in the sinonasal cavity or maxilla and almost exclusively affects young children. Currently, it is...
Sinonasal myxoma (SNM) is a rare benign mesenchymal tumor that arises in the sinonasal cavity or maxilla and almost exclusively affects young children. Currently, it is considered a specific entity, but its molecular characteristics have not been reported. Lesions diagnosed as SNM and odontogenic myxoma/fibromyxoma were identified from the participating institutions, and the clinicopathologic features were recorded. Immunohistochemistry for β-catenin was performed in all cases with available tissue. Next-generation sequencing was performed in all cases with SNM. Five patients with SNM were identified, including 3 boys and 2 girls with an age range of 20-36 months (mean: 26 months). The tumors were well defined, centered in the maxillary sinus, surrounded by a rim of woven bone, and composed of a moderately cellular proliferation of spindle cells oriented in intersecting fascicles in a variably myxocollagenous stroma that contained extravasated erythrocytes. Histologically, the tumors resembled myxoid desmoid fibromatosis. Three tested cases showed nuclear expression of β-catenin. In 3 tumors, next-generation sequencing revealed intragenic deletions of APC exons 5-6, 9 and 15, or 16, respectively, with concurrent loss of the other wild-type copy of APC predicted to result in biallelic inactivation. The deletions were identical to those that occur in desmoid fibromatosis, and copy number analysis raised the possibility that they were germline. In addition, 1 case showed the possible deletion of APC exons 12-14, and another case exhibited a CTNNB1 p. S33C mutation. Ten patients with odontogenic myxoma/fibromyxoma were identified, including 4 women and 6 men (mean age: 42 years). Seven tumors involved the mandible and 3 the maxilla. Histologically, the tumors differed from SNM, and all cases lacked nuclear expression of β-catenin. These findings suggest that SNM represents a myxoid variant of desmoid fibromatosis that often arises in the maxilla. The APC alterations might be germline, and therefore, genetic testing of the affected patients should be considered.
Topics: Child; Male; Humans; Female; Child, Preschool; Infant; Adult; Fibromatosis, Aggressive; beta Catenin; Mutation; Genetic Testing; Exons
PubMed: 37059229
DOI: 10.1016/j.modpat.2023.100189 -
Journal of Ultrasonography Oct 2023Radiography is the appropriate initial imaging modality to assess for midfoot and forefoot pathology before turning to advanced imaging techniques. While most lesions of...
Radiography is the appropriate initial imaging modality to assess for midfoot and forefoot pathology before turning to advanced imaging techniques. While most lesions of the mid- and forefoot can be diagnosed clinically, the exact nature and severity of the pathology is often unclear. This review addresses the use of the ultrasound, as well as the added value of magnetic resonance imaging, in diagnosing conditions of the midfoot and forefoot. Ultrasound allows a dynamic assessment as well as enabling imaging-guided interventions for diagnostic and therapeutic purposes. Practical tips for optimal examination of this area with ultrasound and magnetic resonance imaging are provided. Metatarsal stress fracture, Chopart's injury, Lisfranc injury, as well as the 1 metatarsophalangeal joint injury and lesser metatarsophalangeal plantar plate injury are injuries unique to the mid- and forefoot. The imaging anatomy of the 1 and lesser metatarsophalangeal joints is reviewed, as such knowledge is key to correctly assessing injury of these joints. Characteristic imaging features of masses commonly encountered in the mid- and forefoot, such as ganglion cyst, Morton neuroma, gouty tophus, plantar fibroma, foreign body granuloma, and leiomyoma are reviewed. The use of ultrasound and magnetic resonance imaging in assessing degenerative and inflammatory joint disorders, and in particular rheumatoid arthritis, of the mid- and forefoot region is also reviewed. In summary, when necessary, most lesions of the mid-and forefoot can be adequately assessed with ultrasound, supplemented on occasion with radiographs, computed tomography, or magnetic resonance imaging.
PubMed: 38020514
DOI: 10.15557/jou.2023.0033 -
Radiographics : a Review Publication of... Aug 2023Fibroblastic and myofibroblastic tumors are a variable group of neoplasms ranging from benign to malignant. These lesions may affect patients of any age group but are...
Fibroblastic and myofibroblastic tumors are a variable group of neoplasms ranging from benign to malignant. These lesions may affect patients of any age group but are more frequently encountered in the pediatric population. Patient clinical presentation depends on the location, growth pattern, adjacent soft-tissue involvement, and pathologic behavior of these neoplasms. In the 2020 update to the World Health Organization (WHO) classification system, these tumors are classified on the basis of their distinct biologic behavior, histomorphologic characteristics, and molecular profiles into four tumor categories: benign (eg, fibrous hamartoma of infancy, nodular fasciitis, proliferative fasciitis, fibroma of the tendon sheath, calcifying aponeurotic fibroma); intermediate, locally aggressive (eg, desmoid fibromatosis); intermediate, rarely metastasizing (eg, dermatofibrosarcoma protuberans, myxoinflammatory fibroblastic sarcoma, low-grade myofibroblastic sarcoma, infantile fibrosarcoma); and malignant (eg, sclerosing epithelioid fibrosarcomas; low-grade fibromyxoid sarcoma; myxofibrosarcoma; fibrosarcoma, not otherwise specified). Detection of various components of solid tumors at imaging can help in prediction of the presence of corresponding histopathologic variations, thus influencing diagnosis, prognosis, and treatment planning. For example, lesions with a greater myxoid matrix or necrotic components tend to show higher signal intensity on T2-weighted MR images, whereas lesions with hypercellularity and dense internal collagen content display low signal intensity. In addition, understanding the radiologic-pathologic correlation of soft-tissue tumors can help to increase the accuracy of percutaneous biopsy and allow unnecessary interventions to be avoided. RSNA, 2023 Quiz questions for this article are available in the supplemental material.
Topics: Humans; Child; Adult; Neoplasms, Fibrous Tissue; Soft Tissue Neoplasms; Fibroma; Fibrosarcoma; Skin Neoplasms; Diagnosis, Differential; Fasciitis
PubMed: 37440448
DOI: 10.1148/rg.230005 -
Cureus Sep 2023Background and objective Nail disorders encompass a wide spectrum of conditions, spanning congenital, developmental, infectious, neoplastic, degenerative,...
Background and objective Nail disorders encompass a wide spectrum of conditions, spanning congenital, developmental, infectious, neoplastic, degenerative, dermatological, and systemic diseases. A comprehensive exploration of their clinical manifestations, incidence, and associations is crucial for precise diagnosis and effective management. Methods This observational cross-sectional study conducted at B.J. Medical College and Civil Hospital, Ahmedabad involved 300 consecutive patients with nail changes from July 2017 to June 2019 reporting diverse dermatological and systemic conditions. The inclusion criteria involved patients of both genders and all age groups displaying nail changes associated with dermatological and systemic diseases. Data collection entailed a comprehensive clinical history, systemic and dermatological examinations, nail assessment using Dermoscope (DermLite 3, 10x), and supplementary tests. Analyses were performed on Microsoft Excel 2007 software. The study was approved by the Institute Ethics Committee. Results Among the 300 cases, females had a higher prevalence of nail involvement (57%), with a female-to-male ratio of 1.3:1. The most affected age group was 21-40 years, with 6-10 nails typically affected. Notably, housewives showed a higher prevalence. The most frequent nail condition was onychomycosis (24.33%) followed by psoriatic nail changes (20%). Less frequent nail changes involved eczema (5.7%), paronychia (5%), drug-induced (4.3%), lichen planus (3.7%), trauma-induced (3%), twenty nail dystrophy (2.33%), Darier's disease (2%), pemphigus vulgaris (2%), alopecia areata (1.67%), median Heller dystrophy (1.33%), atopic dermatitis (1%), epidermolysis bullosa (1%), racquet nail (1%), leprosy (1%), pityriasis rubra pilaris (0.67%), vitiligo (0.67%), secondary syphilis (0.67%), pachyonychia congenita (0.67%), as well as a case each of total leukonychia, subungual warts, Koenen tumor, and periungual fibroma(0.33%). Systemic autoimmune connective tissue disorders (CTD) accounted for 9%; the most common nail finding observed was nail fold erythema (48.1%) followed by nail fold telangiectasis (44.4%). In systemic sclerosis (SS), the most common finding was nail fold telangiectasia, and in systemic lupus erythematosus (SLE), the most common was nail fold erythema. Scleroderma capillary pattern on nail fold capillaroscopy was found in seven patients with SS, two patients with dermatomyositis, and only one patient with SLE. Nail changes observed in systemic diseases include onychomycosis in diabetes mellitus and chronic renal failure patients, splinter hemorrhages in ischemic heart disease and hypertension, longitudinal melanonychia in HIV, and koilonychia and platynychia in iron deficiency anemia. Other systemic diseases, such as Addison's disease and renal failure, also exhibited various nail changes. Conclusions Beyond their cosmetic importance, nails hold a vital pathologic role. Proficiency in nail terminology and classification is key for skillful evaluation. Understanding normal and abnormal nail variants, along with their disease associations, benefits diagnosis and tailored management. Nails, often overlooked but accessible, serve as a window into patients' general health and should be an integral part of thorough examinations. This study highlights an intricate clinical panorama of nail disorders, highlighting their significant role in both dermatological and systemic contexts.
PubMed: 37701161
DOI: 10.7759/cureus.45007 -
Malaysian Orthopaedic Journal Jul 2023Total femur replacement is an option instead of amputation for extensive bone tumour or after revision surgery with a massive bone loss. Over a long period of time the...
INTRODUCTION
Total femur replacement is an option instead of amputation for extensive bone tumour or after revision surgery with a massive bone loss. Over a long period of time the patients may need revision surgery, and this might affect the functional outcome. We reviewed all consecutive total femur replacements done for primary and revision surgery of primary bone tumours in our centre to evaluate the long-term functional outcome and survival.
MATERIALS AND METHODS
All patients who had total femur resection and reconstruction with modular endoprosthesis replacement in our centre from June 1997 to May 2022 were reviewed. The respondents were surveyed through WhatsApp using google form which was translated into Bahasa Malaysia based on the Musculoskeletal Tumour Society Scoring System (MSTS). The data were presented as descriptive data on the final survival of the limb and prosthesis.
RESULTS
Ten patients underwent total femur replacement. There were eight osteosarcoma, one giant cell tumour and one chondromyxoid fibroma. Three patients with osteosarcoma succumbed to pulmonary metastases; all had good early post-operative functional outcomes without local recurrence. Seven patients were available for long term evaluation of function with a mean follow-up of 17.6 years (ranged 10-25 years). Four patients with total femur replacement had good functional outcomes (60-80%) without revision with 10-25 years follow-up. Three patients experienced acetabulum erosion and chronic pain that required early hip replacements. Two of them were complicated with superior erosions and bone loss and subsequently were managed with massive reconstruction using cemented acetabulum cage reconstruction. The other has diabetes mellitus with chronic infection following revision of distal femur endoprosthesis to total femur replacement and subsequently underwent limited hemipelvectomy after 14 years.
CONCLUSION
Total femur replacement offers a good long term functional outcome and prosthesis survival and is a favourable option for limb salvage surgery.
PubMed: 37583532
DOI: 10.5704/MOJ.2307.004 -
Histopathology Sep 2023Juvenile fibroadenomas (JFA) are biphasic fibroepithelial lesions (FEL) usually occurring in adolescent female patients. Giant (G) JFA, like other FEL, may exhibit...
AIMS
Juvenile fibroadenomas (JFA) are biphasic fibroepithelial lesions (FEL) usually occurring in adolescent female patients. Giant (G) JFA, like other FEL, may exhibit prominent pseudoangiomatous stromal hyperplasia (PASH)-like change. We sought to determine clinicopathological and molecular characteristics of GJFA with and without PASH.
METHODS AND RESULTS
Archives were searched for cases of GJFA (1985-2020). All were stained for androgen receptor (AR), beta-catenin, CD34 and progesterone receptor (PR). Cases were sequenced using a custom 16-gene panel - MED12 (exons 1 and 2), TERT promoter (-124C>T and -146Ctable>T), SETD2, KMT2D, RARA (exons 5-9), FLNA, NF1, PIK3CA (exons 10, 11 and 21), EGFR, RB1, BCOR, TP53, PTEN, ERBB4, IGF1R and MAP3K1. Twenty-seven GJFA from 21 female patients aged 10.1-25.2 years were identified. Size ranged from 5.2 to 21 cm. Two patients had multiple, bilateral and later recurrent GJFA. Thirteen (48%) cases showed prominent PASH-like stroma. All were positive for stromal CD34, negative for AR and beta-catenin and one case showed focal PR expression. Sequencing showed MAP3K1 and SETD2 mutations in 17 samples, with KMT2D, TP53 and BCOR aberrations in 10 (45%), 10 (45%) and seven (32%) cases, respectively. Tumours with a PASH-like pattern had higher prevalence of SETD2 (P = 0.004) and TP53 (P = 0.029) mutations, while those without PASH had more RB1 mutations (P = 0.043). MED12 mutation was identified in one case. TERT promoter mutation was observed in four (18%), including two recurrences.
CONCLUSIONS
Gene mutations along more advanced phases of the proposed FEL pathogenetic pathway in GJFA are unusual, and suggest a mechanism for more aggressive growth in these tumours.
Topics: Adolescent; Humans; Female; beta Catenin; Fibroadenoma; Breast Diseases; Breast Neoplasms; Hyperplasia; Neoplasms, Fibroepithelial; Fibroma
PubMed: 37140543
DOI: 10.1111/his.14935 -
Medicina Oral, Patologia Oral Y Cirugia... Nov 2023Odontogenic tumours are infrequent lesions. Studies on the frequency of odontogenic tumours from Latin America are scarce. This work aimed to determine the relative... (Review)
Review
BACKGROUND
Odontogenic tumours are infrequent lesions. Studies on the frequency of odontogenic tumours from Latin America are scarce. This work aimed to determine the relative frequency of odontogenic tumours in a Chilean population using the 2022 World Health Organization classification.
MATERIAL AND METHODS
This is a case series retrospective study. We reviewed 35,530 samples from 1975 to 2022 from the Oral Pathology Referral Institute and the Pathological Anatomy Service, Faculty of Dentistry, University of Chile. We utilized the 2022 World Health Organization classification for histological typification.
RESULTS
According to 2022 World Health Organization classification, 544 odontogenic tumours were confirmed. The most frequent odontogenic tumours were: odontoma (n=241; 44.3%), ameloblastoma (n=109; 20.0%) and cemento-ossifying fibroma (n=71; 13.1%). Benign odontogenic tumours corresponded to 538 cases (98.9%) and malignant tumours were only six cases (1.1%).
CONCLUSIONS
In our population, odontoma was the most frequent odontogenic tumour followed by ameloblastoma and cemento-ossifying fibroma. Malignant odontogenic tumours were very rare. The results of this study are similar to reports from America, but there are some differences concerning the data from Africa and Asia.
Topics: Humans; Ameloblastoma; Odontoma; Retrospective Studies; Cementoma; Chile; Odontogenic Tumors; World Health Organization
PubMed: 37823289
DOI: 10.4317/medoral.26008 -
Cancer Science Dec 2023Familial adenomatous polyposis (FAP) patients develop various life-threatening extracolonic comorbidities that appear individually or within a family. This diversity can...
Familial adenomatous polyposis (FAP) patients develop various life-threatening extracolonic comorbidities that appear individually or within a family. This diversity can be explained by the localization of the adenomatous polyposis coli (APC) variant, but few reports provide definitive findings about genotype-phenotype correlations. Therefore, we investigated FAP patients and the association between the severe phenotypes and APC variants. Of 247 FAP patients, 126 patients from 85 families identified to have APC germline variant sites were extracted. These sites were divided into six groups (Regions A to F), and the frequency of severe comorbidities was compared among the patient phenotypes. Of the 126 patients, the proportions of patients with desmoid tumor stage ≥III, number of FGPs ≥1000, multiple gastric neoplasms, gastric neoplasm with high-grade dysplasia, and Spigelman stage ≥III were 3%, 16%, 21%, 12%, and 41%, respectively, while the corresponding rates were 30%, 50%, 70%, 50%, and 80% in patients with Region E (codons 1398-1580) variants. These latter rates were significantly higher than those for patients with variants in other regions. Moreover, the proportion of patients with all three indicators (desmoid tumor stage ≥III, number of FGPs ≥1000, and Spigelman stage ≥III) was 20% for those with variants in Region E and 0% for those with variants in other regions. Variants in Region E indicate aggressive phenotypes, and more intensive management is required.
Topics: Humans; Genes, APC; Fibromatosis, Aggressive; Genotype; Adenomatous Polyposis Coli; Phenotype; Stomach Neoplasms; Genetic Association Studies; Mutation
PubMed: 37798255
DOI: 10.1111/cas.15945 -
Journal of Vascular and Interventional... Sep 2023To determine the risk factors for local of adult patients treated for desmoid tumors by cryoablation.
PURPOSE
To determine the risk factors for local of adult patients treated for desmoid tumors by cryoablation.
MATERIALS AND METHODS
Eighty-four patients treated for nonabdominopelvic desmoid tumors by cryoablation from July 2012 to July 2020 were included in a retrospective study. The population was composed of 64 women (76.19%) and 20 men (23.81%), aged from 16 to 75 years (median, 35 years ± 14.25). Each patient underwent preprocedural gadolinium-enhanced magnetic resonance imaging and was followed up to 36 months with the same technique. Clinical features, such as tumor size and previous treatment, epidemiological features, and the technical parameters of cryoablation, were studied.
RESULTS
Local relapse was found in 19 (22.62%) of 84 patients. The 12-, 24-, and 36-month progression-free survival rates were 89% (95% confidence interval [CI], 79-94), 74% (95% CI, 60-83), and 68% (95% CI, 53-79), respectively. In univariate analysis, significant prognostic factors associated with local recurrence were non-abdominal wall location (P = .042), debulking strategy (P = .0105), risk of visceral injury (P = .034) or peripheral nerve injury during cryoablation (P = .033), previous radiation therapy (P = .043), and treatment before 2016 (P = .008). In multivariate analysis, abdominal wall tumors displayed the best outcome, whereas the neck and trunk showed a high rate of recurrence (hazard ratio, 7.307 [95% CI, 1.396-38.261]).
CONCLUSIONS
The local recurrence of desmoid tumors after cryoablation depends on a number of prognostic factors, in particular, a non-abdominal wall location of the tumor and previous local treatment such as surgery or radiation therapy.
Topics: Adult; Male; Humans; Female; Fibromatosis, Aggressive; Retrospective Studies; Prognosis; Cryosurgery; Neoplasm Recurrence, Local; Treatment Outcome
PubMed: 37182669
DOI: 10.1016/j.jvir.2023.05.012