Plexiform Fibromyxoma in the Stomach: Immunohistochemical Profile and Comprehensive Genetic Characterization.

Plexiform fibromyxoma (PF), also referred to as plexiform angiomyxoid myofibroblast tumor, is an exceedingly rare mesenchymal neoplasm primarily affecting the stomach. Herein, we present a case of PF diagnosed in a 71-year-old male with a history of lung cancer, initially suspected to have a gastrointestinal stromal tumor (GIST) of the stomach, who subsequently underwent subtotal gastrectomy. The histopathological and molecular features of the tumor, including mutations in ABL1, CCND1, CSF1R, FGFR4, KDR, and MALAT1-GLI1 fusion, are elucidated and discussed in the context of diagnostic, prognostic, and therapeutic considerations.

Chondromyxoid fibroma: A retrospective evaluation of 31 cases.

OBJECTIVES: This study aimed to review a 35-year experience with chondromyxoid fibroma at our institution. PATIENTS AND METHODS: The study retrospectively analyzed the records of 31 consecutive patients (17 males, 14 females; mean age: 30.5±15.7 years; range, 6 to 63 years) with chondromyxoid fibroma who were treated between January 1988 and December 2021. The clinical and radiological characteristics of lesions, tumor volume, and recurrence rates were assessed using the tumor archive of the hospital. RESULTS: The mean follow-up duration was 65.9±42.0 months. Pelvis, proximal tibia, and distal femur were the most common sites of localization. The initial surgical treatment was performed on 27 patients at our clinic, while four patients were referred to the clinic after recurrence. The overall recurrence rate was 16.1%. Intralesional curettage was applied to 21 (77.8%) out of 27 patients. The cavity created after curettage was filled with bone graft (autograft or allograft) in 15 (55.5%) cases. Bone cement was applied in four (14.8%) cases. Resection was applied to five (18.5%) patients. In two (7.4%) cases, intralesional curettage alone was performed. One of these two patients experienced recurrence, resulting in a recurrence rate of 50% in this patient group. No recurrence was observed in other treatment groups. CONCLUSION: Intralesional curettage and filling the defect with bone graft or cement were effective for local control in most cases. Curettage alone was associated with high recurrence rates.

[Fibromatous Epulis: A Clinical Case Report].

A 35-year-old patient presented with a painless, broad-based exophytic lesion in the buccal interdental region between teeth 13 and 14. Despite oral hygiene efforts the lesion persisted for around one year. Radiology excluded bone involvement, and histopathology after excision confirmed a fibromatous epulis, which is characterized by collagen-rich connective tissue. There was no recurrence within one-year follow-up. Surgical removal proved to be efficient.

[You only ECHO Twice].

INTRODUCTION: Ischaemic stroke results from a sudden interruption of cerebral blood flow, often caused by thrombosis, embolism or hypoperfusion. Rarely, cardiac tumours are the cause of an embolic event. We report on an 80-year-old woman with a cerebral stroke. Successful thrombectomy revealed a histopathologically confirmed papillary fibroelastoma as the embolic source. Although it was not detectable on initial echocardiography, the tumour was discovered by transesophageal echocardiography. This case emphasises the importance of considering primary cardiac tumours as potential sources of emboli in ischaemic stroke. Keywords.

Superior scapular location: An overlooked albeit frequent finding in elastofibroma dorsi.

PURPOSE: To explore the frequency of superior scapular elastofibroma dorsi in a large patient series with elastofibroma dorsi. METHODS: 136 chest CTs from January 2016 to July 2022 reporting elastofibroma dorsi were retrospectively analyzed. Three radiologists assessed the number, size, and location of elastofibroma dorsi. Continuous variables underwent two-tailed t-tests with p < 0.05. Inter-observer agreement was assessed by using Cohen's Kappa values. RESULTS: In 136 patients (mean age, 75.9 +/- 9.8 years; 117 female), 330 elastofibroma dorsi were found. Six (4.4 %) patients had single, 87 (64 %) double, 22 (16.2 %) triple and 21 (15.4 %) quadruple lesions. All single and double lesions were in the inferior scapular regions. 43 (31.6 %) patients had superior scapular lesions in addition to inferior scapular elastofibroma dorsi. Inferior scapular elastofibroma dorsi was significantly larger than superior scapular elastofibroma dorsi. The probability of a right superior lesion was significantly higher in patients with a larger right inferior lesion. Inter-observer agreement was very good for experienced radiologist (κ = 94.1) and good for other radiologists (κ = 79.4 and κ = 78). CONCLUSION: In contrast to current belief, superior scapular elastofibroma dorsi accompanying the typical inferior scapular lesions is not uncommon and can even manifest bilaterally. To the best of our knowledge, this is the first case series reporting prevalence of quadruple elastofibroma dorsi.

Desmoplastic fibroma in a child: a 9-year follow-up case report.

BACKGROUND: Desmoplastic fibroma is an extremely rare primary bone tumor. Its characteristic features include bone destruction accompanied by the formation of soft tissue masses. This condition predominantly affects individuals under the age of 30. Since its histology is similar to desmoid-type fibromatosis, an accurate diagnosis before operation is difficult. Desmoplastic fibroma is resistant to chemotherapy, and the efficacy of radiotherapy is uncertain. Surgical excision is preferred for treatment, but it entails high recurrence. Further, skeletal reconstruction post-surgery is challenging, especially in pediatric cases. CASE PRESENTATION: Nine years ago, a 14-year-old male patient presented with a 4-year history of progressive pain in his left wrist. Initially diagnosed as fibrous dysplasia by needle biopsy, the patient underwent tumor resection followed by free vascularized fibular proximal epiphyseal transfer for wrist reconstruction. However, a histological examination confirmed a diagnosis of desmoplastic fibroma. The patient achieved bone union and experienced a recurrence in the ipsilateral ulna 5 years later, accompanied by a wrist deformity. He underwent a second tumor resection and wrist arthrodesis in a single stage. The most recent annual follow-up was in September 2023; the patient had no recurrence and was satisfied with the surgery. CONCLUSIONS: Desmoplastic fibroma is difficult to diagnose and treat, and reconstruction surgery after tumor resection is challenging. Close follow-up by experienced surgeons may be beneficial for prognosis.

Cardiac fibroma presenting as hypoplastic left heart syndrome in a foetus: causal or coincidental?

Primary cardiac tumours are very rare. Cardiac tumours in the perinatal period are even more uncommon with a prevalence of 0.0017% to 0.28% in autopsy series. The majority of benign cardiac tumours are cardiac rhabdomyomas, followed by cardiac fibromas. Another rare congenital heart disease is hypoplastic left heart syndrome (HLHS). Here we present a 21-week-old foetus diagnosed antenatally with HLHS on foetal echocardiogram. An autopsy done on the foetus following medical termination of pregnancy revealed a cardiac fibroma in the ventricular septum. It is very uncommon to have a combination of two congenital heart diseases. An extensive literature review revealed only three cases that had rhabdomyoma and associated HLHS. This case presented with cardiac fibroma which in early gestation would have resulted in left ventricular outflow obstruction leading to the development of HLHS. Small cardiac tumours which are difficult to detect by echocardiogram in early gestation can lead to the development of HLHS. A thorough and hierarchical autopsy examination of such cases can help in a better understanding of the relationship between HLHS and cardiac tumours.

HPV related p16INK4A and HSV in benign and potentially malignant oral mucosa pathologies.

BACKGROUND: The association of Human Papilloma Virus (HPV) and Human Syncytial Virus (HSV) infection with inflammatory and potentially malignant disorders of the oral cavity (OPMD) is unknown. The aim of this cross-sectional study was to stablish the expression of the p16INK4A and HSV proteins, to test potential correlation between those parameters in biopsies from clinically diagnosed oral lesions. METHODS: Immunochemical analysis of 211 formalin-fixed, paraffin-embedded (FFPE) blocks from 211 individuals was provided. The clinical diagnosis included in the research were Oral lichen planus (N = 30), Oral Leukoplakia (N = 13) Mucocele (N = 25), Erosion/ulceration/ inflammation of mucosa (N = 8), Overgrowth of mucosa (N = 135). RESULTS: Two hundred eleven analyzed FFPE samples resulted with the median age of 58.5 years (the average age 54.0 years and SD ± 17 years). The female/male ratio was 2.3 (69.7% vs 30.3% respectively). All the samples positive for HSV also expressed p16INK4A (p = 0.000), that's showed various levels of association with the diverse clinical diagnosis reaching the higher level in OM 49.1% (29 positive samples) and OLP 30.5% (18). p16INK4A was associated with OLP at 30.5% (18), and fibroma 30.5%. HSV expression was mostly present in fibroma at 47.6% (10 positive samples). CONCLUSION: HSV and p16INK4A positivity in relation to diagnosis of the biopsies showed statistically most often p16INK4A in OLP and fibroma. The results of co-expression of p16INK4A and HSV in mucocele and fibroma in oral mucosa suggest a cooperation between the molecular alterations induced by these two viruses. Squamous papilloma samples positive for p16INK4A were also positive for HSV, suggesting that the putative pro-oncogenic action of HSV could be an early event.

The detailed histopathological characteristics of ovarian fibroma compared with thecoma, granulosa cell tumor, and sclerosing stromal tumor.

BACKGROUND: Ovarian fibromas are benign tumors that can present peculiar morphological features not studied sufficiently. MATERIAL AND METHODS: In this retrospective study, 75 consecutive cases of ovarian fibroma were morphologically compared with 46 thecomas, 16 granulosa cell tumors, and 5 sclerosing stroma tumors for the following factors: the growth pattern as diffuse or nodular, the presence of hyaline plaques, necrosis, keloid-like sclerosis, calcifications, cystic degeneration, fibrous or edematous stroma, prominent vascularity, lutein cells, cellularity, scant or abundant cytoplasm, prominent cell membranes, nuclear grooves, atypia, and mitotic activity. RESULTS: The tumors differed significantly in terms of hyaline plaques presence, nuclear grooves, growth pattern, stroma type, tumor cellularity, cytoplasm, prominence of cell membranes, atypia, mitotic activity, and prominent vascularity. CONCLUSION: Ovarian fibromas can present some maybe unexpected features rather frequently, such as cystic degeneration, hyaline plaques, prominent vascularity, increased cellularity, and some mitotic activity, thus their presence should not always prompt to an alternative diagnosis.

Superficial Acral Fibromyxoma on the Thumb-Nail Bed.

Superficial acral fibromyxoma, also known as digital fibromyxoma, is a benign soft tissue tumor. The acral regions, including the palms, soles, fingers, toes, and nail units, are the commonly affected locations. The subungual region of the great toe is the most common site reported in current literature. The tumor is slowly progressive and benign in nature. Histology commonly reveals a fibromyxoid neoplasm with immunoreactivity to CD34 and CD99 markers.1,2,3 We present the case of a 39-year-old female with a nine-year history of repetitive digital trauma presenting with superficial acral fibromyxoma of the thumb-nail bed. Our case is unique due to the tumor location and the patient's prior long history of trauma to the tumor site.

Giant cell angiofibroma of gingiva in tuberous sclerosis complex: a case report and literature review.

BACKGROUND: Tuberous sclerosis complex (TSC) is a rare, complex genetic disorder characterized by hamartomas and neoplastic lesions in various organ systems. With the development of radiology and gene testing, the diagnostic criteria for TSC were updated in 2012 at the International Consensus Conference. Intraoral fibromas have long been associated with TSC. However, the incidence of giant cell angiofibroma (GCA) in TSC patients is extremely rare. Here, we report the first case of GCA in the gingival tissue of a patient with TSC. CASE PRESENTATION: A 41-year-old woman first visited the Department of Oral and Maxillofacial Surgery, Chonnam National University Dental Hospital, complaining of gingival enlargement. Clinical examination revealed several manifestations associated with TSC, including intraoral fibromas, facial angiofibromas, dental enamel pits, ungual fibromas, "confetti" skin lesions, hypomelanotic macules, and a shagreen patch. Intraoral examination revealed a 6.0 × 5.0 cm gingival overgrowth on the left mandible. Surgical excision was performed, and subsequent histopathological examination confirmed the diagnosis of GCA. There was no evidence of recurrence within the 24- months of surgery. CONCLUSIONS: We report the first case of GCA in the gingival tissue of a patient with TSC. This report would contribute to an improved understanding of this rare disease. However, further case reports are necessary to clarify the relationship between GCA and TSC.

[Aortic Valve Papillary Fibroelastoma Stated for Preoperative Twelve Years without Any Symptom: Report of a Case].

We experienced a case of papillary fibroelastoma of aortic valve, which had been located for preoperative 12 years without any symptom. We could assess tumor growth rate of 0.17 mm/year. Because of recent reports of recurrence, close follow-up should be continued.

Solitary pleural fibroma causing IGF-2-mediated hypoglycaemia in a non-diabetic patient.

A patient without a diagnosis of diabetes mellitus presented to the hospital due to a fall and hypoglycaemia on admission. The patient was found to have recurrent nocturnal fasting hypoglycaemia. CT revealed a large lung mass consistent with a solitary pleural fibroma, a rare tumour associated with insulin-like growth factor 2 (IGF-2) production. This case is an important reminder that potential causes of hypoglycaemia should be considered in non-diabetic patients.

MRI combined with clinical features to differentiate ovarian thecoma-fibroma with cystic degeneration from ovary adenofibroma.

OBJECTIVE: To explore the value of magnetic resonance imaging (MRI) and clinical features in identifying ovarian thecoma-fibroma (OTF) with cystic degeneration and ovary adenofibroma (OAF). METHODS: A total of 40 patients with OTF (OTF group) and 28 patients with OAF (OAF group) were included in this retrospective study. Univariable and multivariable analyses were performed on clinical features and MRI between the two groups, and the receiver operating characteristic (ROC) curve was plotted to estimate the optimal threshold and predictive performance. RESULTS: The OTF group had smaller cyst degeneration degree (P < .001), fewer black sponge sign (20% vs. 53.6%, P = .004), lower minimum apparent diffusion coefficient value (ADCmin) (0.986 (0.152) vs. 1.255 (0.370), P < .001), higher age (57.4 ± 14.2 vs. 44.1 ± 15.9, P = .001) and more postmenopausal women (72.5% vs. 28.6%, P < .001) than OAF. The area under the curve of MRI, clinical features and MRI combined with clinical features was 0.870, 0.841, and 0.954, respectively, and MRI combined with clinical features was significantly higher than the other two (P < .05). CONCLUSION: The cyst degeneration degree, black sponge sign, ADCmin, age and menopause were independent factors in identifying OTF with cystic degeneration and OAF. The combination of MRI and clinical features has a good effect on the identification of the two. ADVANCES IN KNOWLEDGE: This is the first time to distinguish OTF with cystic degeneration from OAF by combining MRI and clinical features. It shows the diagnostic performance of MRI, clinical features, and combination of the two. This will facilitate the discriminability and awareness of these two diseases among radiologists and gynaecologists.

Pediatric Plexiform Fibromyxoma: A Case Report.

The plexiform fibromyxoma is a rare mesenchymal tumor in adults that generally originates in the antrum of stomach, being its occurrence in pediatric patients exceptional. It was classified as a distinct entity by World Health Organization in 2010. No recurrences and metastases have been documented in many of the reported patients to date, being the surgical treatment curative. We report the case of a 3-month-old infant who presented to the emergency department with an episode of intestinal subocclusion requiring an emergent surgery. During the surgical intervention, a mass was identified in the jejunum, causing partial occlusion of its lumen. The surgical pathology report revealed an infiltrative tumor composed of spindle-shaped cells disposed in a stroma with a plexiform pattern alternating myxoid areas. These findings and the immunohistochemical characteristics of the neoplastic cells led to classify the tumor as a plexiform fibromyxoma. A description of the immunophenotype of this tumor is made and differential diagnosis with other gastrointestinal tumors is also discussed.

The mass that should not be there: Multi-modality imaging shapes diagnostic reasoning.

A rare case of pulmonary artery fibroelastoma that demonstrates the importance of multimodality imaging and serial scans in reducing diagnostic uncertainty.

Insights into Hyperparathyroidism-Jaw Tumour Syndrome: From Endocrine Acumen to the Spectrum of CDC73 Gene and Parafibromin-Deficient Tumours.

A total of 1 out of 10 patients with primary hyperparathyroidism (PHP) presents an underlying genetic form, such as multiple endocrine neoplasia types 1, 2A, etc., as well as hyperparathyroidism-jaw tumour syndrome (HJT). We aimed to summarise the recent data, thus raising more awareness regarding HJT, from the clinical perspective of PHP in association with the challenges and pitfalls of CDC73 genetic testing and parafibromin staining. This narrative review included a sample-focused analysis from the past decade according to a PubMed search. We identified 17 original human studies (≥4 patients per article). The mean age at disease onset was between 20.8 and 39.5 years, while the largest study found that 71% of patients had HJT recognised before the age of 30. Males and females seemed to be equally affected, in contrast with sporadic PHP. PHP represented the central manifestation of HJT, occurring as the first manifestation in up to 85% of HJT cases. A biochemistry panel found a mean serum calcium level above the level of 12 mg/dL in PHP. PTH was elevated in HJT as well, with average values of at least 236.6 pg/mL. The most frequent pathological type in PHP was a parathyroid adenoma, but the incidence of a parathyroid carcinoma was much higher than in non-HJT cases (15% of all parathyroid tumours), with the diagnosis being established between the age of 15 and 37.5. In some families up to 85% of carriers suffered from a parathyroid carcinoma thus indicating that certain CDC73 pathogenic variants may harbour a higher risk. An important issue in HJT was represented by the parafibromin profile in the parathyroid tumours since in HJT both parathyroid adenomas and carcinomas might display a deficient immunoreactivity. Another frequent manifestation in HJT was ossifying fibromas of the jaw (affecting 5.4% to 50% of patients; the largest study found a prevalence of 15.4%). HJT was associated with a wide variety of kidney lesion (mostly: kidney cysts, with a prevalence of up to 75%, and renal tumours involved in 19% of patients). The risk of uterine lesions seemed increased in HJT, especially with concern to leiomyomas, adenofibromas, and adenomyosis. The underlying pathogenic mechanisms and the involvement of CDC73 pathogenic variants and parafibromin expression are yet to be explored. Currently, the heterogeneous expression of parafibromin status and, the wide spectrum of CDC73 mutations including the variety of clinical presentations in HJT, make it difficult to predict the phenotype based on the genotype. The central role of HJT-PHP is, however, the main clinical element, while the elevated risk of parathyroid carcinoma requires a special awareness.