Elastofibromatous changes in giant cell fibroma and amalgam tattoo: Unusual findings in common oral lesions.

Several cases of elastofibromatous lesion affecting the oral mucosa have been reported. Clinically, these lesions may appear as small exophytic lesions or less often as white lesions. Therefore, fibrous hyperplasia and leukoplakia are not uncommonly considered in clinical differential diagnosis. Microscopically, elastic and fibrous connective tissue deposition is seen. Rarely, elastofibromatous changes can be detected when assessing intraoral lesions, including cysts, salivary gland neoplasms, and epithelial dysplasia. Here we report two oral lesions showing elastofibromatous changes, expanding their clinicopathological spectrum. The first case was a 46-year-old man with a history of asymptomatic nodular lesion on the palate 1 year ago, diagnosed as giant cell fibroma with elastofibromatous changes. The second case was a 79-year-old woman who presented a pigmented and mildly symptomatic lesion on the mandibular alveolar mucosa several months ago, diagnosed as amalgam tattoo associated with elastofibromatous changes.

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.

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.

Cytopathology of Chondromyxoid Fibroma: Report of 2 Cases with Immunocytochemical Expression of GRM1.

INTRODUCTION: Chondromyxoid fibroma (CMF) is a rare, benign bone tumor that occurs predominantly in the second and third decades of life, more frequently in males. Overexpression of GRM1 as a consequence of tumor-specific gene rearrangement of GRM1 has recently been reported as a useful immunohistochemical marker for histopathological diagnosis of CMF. However, the usefulness of GRM1 staining of cytology specimens has not yet been evaluated. In this report, the cytological findings and GRM1 immunocytochemistry of two cases of CMF are described. CASE PRESENTATIONS: Case 1 was a 15-year-old girl with a rib tumor. Imaging findings suggested a benign neurogenic tumor such as schwannoma. The tumor had increased in size over a 2-year period and was resected. Case 2 was a 14-year-old boy with a metatarsal tumor involving his left first toe. Imaging findings were suspicious of a benign neoplastic lesion. Biopsy findings suggested a benign tumor, and the patient underwent tumor resection. Cytologically, in both cases the tumor cells were predominantly spindle-shaped or stellate, with a myxoid to chondromyxoid background matrix and multinucleated giant cells, and these matrices were metachromatic with Giemsa staining. Cellular atypia was more accentuated in case 2 than in case 1. Immunocytochemical staining for GRM1 was positive in both cases. CONCLUSION: Due to the overlap in cytological findings, it is often difficult to differentiate CMF from chondroblastoma and chondrosarcoma grade 2. Immunocytochemical staining for GRM1 may support the diagnosis of CMF, and the reuse of Papanicolaou-stained specimens is applicable. The present cases further demonstrated the difficulty of differentiating CMF from other mimicking tumors such as chondroblastoma and chondrosarcoma grade 2. In such instances, immunocytochemistry for GRM1 is applicable to the diagnostic process, the value of which is strengthened by reusing Papanicolaou-stained specimens.

Rare cardiac tumour-nodular fasciitis.

Left ventricular tumour is a rare condition in children. The causes include vegetations, thrombus, and fibroma. 2-year-old asymptomatic female presented with an innocent heart murmur at 6 months of age. Subsequent follow-ups at 18 months of age showed left ventricular mass. Surgical pathology revealed "nodular fasciitis." This type of tumour has never been described in the heart before.

Ovarian fibromatosis associated with large pedunculated fibroma in a 30-year-old woman: A rare coincidence or variant?

A 30-year-old nulligravida was referred under suspicion of large subserosal myoma. T2-weighted magnetic resonance imaging revealed multilobulated solid mass in the left lower abdomen measuring 16 cm in longitudinal diameter. The ovarian surface was covered with a marked T2-hypointense thick rim called "black garland sign," forming multiple nodular masses ranging from 1 to 5 cm in diameter in some portions of the bilateral ovaries. By laparoscopic-assisted minilaparotomy, the stalk of pedunculated mass originating from the left ovarian hilum was excised, followed by carrying out of the body after in-bag morcellation using a surgical scalpel. Right ovarian exophytic nodular masses larger than 1 cm were excised using monopolar electrode needle. Pathological examination of excised right and left masses showed fibroblast-like spindle cell proliferation with collagenous stroma; however, differences between right and left masses cannot be distinguished on a histological level. Postoperative diagnosis was ovarian fibromatosis coexisting with large pedunculated fibroma.

CD1a is not effective in distinguishing calcifying epithelial odontogenic tumors from amyloid-rich central odontogenic fibroma.

OBJECTIVE: Differential diagnosis between the non-calcifying variant of calcifying epithelial odontogenic tumor (NCLC-CEOT) and amyloid-rich central odontogenic fibroma (AR-COdF) has become a debate, particularly regarding the frequency of CD1a positivity in both entities. This has led to the growing consensus that CD1a-positive staining in AR-NC lesions confirms the diagnosis of AR-COdF. Here, we assess the validity of this consensus. STUDY DESIGN: We collected the data of a case series of histopathologically distinct CEOTs, NCLC-CEOTs, and COdFs and stained them for CD1a and amyloid. Of the 9 CEOTs and NCLC-CEOTs, we diagnosed 4 as classic, 3 as associated with a dentigerous cyst, and 2 as combined CEOT/adenomatoid odontogenic tumors. Of the 9 COdFs, we diagnosed 3 as epithelial poor, 3 as epithelial rich (lacking amyloid), 2 as hyalinized with amyloid, and 1 as hyalinized without amyloid and assessed the staining results. RESULTS: Of the 9 CEOTs and NCLC-CEOTs, 7 stained positively for CD1a, 5 diffusely and 2 focally. Notably, 2 classic NCLC-CEOTs stained strongly CD1a positive. All 3 of the epithelial-poor COdFs were predictably CD1a negative. Of the 6 remaining COdFs, 2 were CD1a positive, 1 hyalinized-with-amyloid COdF diffusely and 1 epithelial-rich-without amyloid focally. CONCLUSIONS: CD1a positivity, which occurs in classic CEOT and NCLC-CEOT, does not help distinguish between NCLC-CEOT and AR-COdF and is inconsistent in all AR-COdFs. The diagnosis of CEOT and AR-COdF should be guided by appropriate histopathologic criteria irrespective of CD1a staining or the presence of amyloid or calcifications.

Historical Misdiagnosis of Recurrent Solitary Fibroma Tumor of the Prostate: A Cases Report and Current Evidence.

BACKGROUND: Solitary fibrous tumors (SFTs) manifest in various anatomical locations but are seldom encountered in the prostate. Despite their rare occurrence in this region, SFTs demonstrate a marked propensity for recurrence. This study elucidates a case of recurrent prostate SFT, previously misdiagnosed, and delineates the salient features and diagnostic criteria pertaining for SFTs. METHODS: Through a meticulous analysis of the patient's antecedent medical records and corroborative diagnostic evaluations, we hypothesized that the presenting pathology was indicative of a prostate SFT. In order to substantiate this supposition, we re-examined archival pathological specimens from the patient. The ensuing pathological assessment validated our conjecture. To address the recurrence, we conducted an open surgical procedure to excise the tumor. Subsequent postoperative pathological evaluations further corroborated the diagnosis of prostate SFT. RESULTS: Upon re-evaluation of the patient's earlier pathological specimens, we discerned that what had been previously classified as a "seminal vesicle tumor" was, in fact, a prostate SFT. During the surgical intervention, it was observed that the prostatic tumor had invaded the bladder, yet there was no seminal vesicle involvement. The tumor dimensions were approximately 7 × 5 × 4 cm, and the margin between the tumor and the surgical resection edge was less than 0.1 cm. The postoperative histological analysis confirmed the diagnosis of recurrent prostate SFT, substantiating our designation of the patient's condition as such. A year-long follow-up revealed no conspicuous signs of tumor recurrence. CONCLUSIONS: Therapeutic intervention for prostate SFT is predominantly surgical. However, given the tumor's marked predisposition for recurrence, the specific mechanisms underlying its etiology and pathogenesis remain enigmatic. Hence, a comprehensive understanding of its pathogenic and recurrent characteristics, coupled with regular postoperative surveillance, is imperative for efficacious treatment and prevention of prostate SFT.

Bilateral ovarian fibromas as the sole manifestation of Gorlin syndrome in a 22-year-old woman: a case report and literature 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.

Historical Misdiagnosis of Recurrent Solitary Fibroma Tumor of the Prostate: A Cases Report and Current Evidence

Background: Solitary fibrous tumors (SFTs) manifest in various anatomical locations but are seldom encountered in the prostate. Despite their rare occurrence in this region, SFTs demonstrate a marked propensity for recurrence. This study elucidates a case of recurrent prostate SFT, previously misdiagnosed, and delineates the salient features and diagnostic criteria pertaining for SFTs. Methods: Through a meticulous analysis of the patient’s antecedent medical records and corroborative diagnostic evaluations, we hypothesized that the presenting pathology was indicative of a prostate SFT. In order to substantiate this supposition, we re-examined archival pathological specimens from the patient. The ensuing pathological assessment validated our conjecture. To address the recurrence, we conducted an open surgical procedure to excise the tumor. Subsequent postoperative pathological evaluations further corroborated the diagnosis of prostate SFT. Results: Upon re-evaluation of the patient’s earlier pathological specimens, we discerned that what had been previously classified as a “seminal vesicle tumor” was, in fact, a prostate SFT. During the surgical intervention, it was observed that the prostatic tumor had invaded the bladder, yet there was no seminal vesicle involvement. The tumor dimensions were approximately 7 × 5 × 4 cm, and the margin between the tumor and the surgical resection edge was less than 0.1 cm. The postoperative histological analysis confirmed the diagnosis of recurrent prostate SFT, substantiating our designation of the patient’s condition as such. A year-long follow-up revealed no conspicuous signs of tumor recurrence. Conclusions: Therapeutic intervention for prostate SFT is predominantly surgical. However, given the tumor’s marked predisposition for recurrence, the specific mechanisms underlying its etiology and pathogenesis remain enigmatic (AU)

Desmoid fibroma simulating malignant breast neoplasm: A case report and literature review.

INTRODUCTION: Desmoid fibroma (DF) is a disorder characterized by strong clonal proliferation of myofibroblasts and fibroblasts. We describe a case of DF that mimicked a breast tumor, along with a review of the literature on the clinical manifestation, diagnostic process, and course of therapy for this combative disease. CASE REPORT: A 34-year-old female patient with breast lump at the junction of the upper quadrants of the left breast. After the diagnosis of DF, it was decided to perform a sectorectomy of the left breast associated with post-quadrant reconstruction, with immunohistochemistry and findings compatible with DF. DISCUSSION: Clinically manifests as a solid mass that is often painless and occasionally adherent to the chest wall. A treatment strategy should be idealized for each patient. Thus, there is the possibility of performing radical surgery for resection and/or radiotherapy, and surgery may be followed by radiotherapy.

Coexisting ovarian serous cystadenoma with fibroma: A very unusual combination.

Surface epithelial neoplasms are the most common ovarian tumors, constituting around 60% of all ovarian malignancies. They are classified as benign, borderline, and malignant. Ovarian cystadenomas are common benign epithelial neoplasms which carry an excellent prognosis. Ovarian thecoma-fibroma groups are uncommon sex cord-stromal neoplasms, constituting 1.0%-4.0% of all ovarian tumors. Most of them are benign and often found in postmenopausal patients. Combination tumors in the ovary are known. The most common combination is mucinous cystadenoma which occurs in association with Brenner tumor, mature cystic teratoma, Sertoli-Leydig cell tumor, or even a serous cystadenoma. A combination of surface epithelial and thecoma-fibroma group is very rarely encountered. A case of one such combination of serous cystadenoma and fibroma of the ovary is being presented here in a postmenopausal woman.

Cytologic, histopathologic, and immunohistochemical features of keloidal fibroma in a dog.

A five-year-old male English Bulldog was presented with a firm, well-circumscribed, 1 cm in diameter cutaneous mass on the left flank. Fine-needle aspiration (FNA) biopsy samples were collected for cytologic analysis. Cytology revealed a highly cellular sample consisting of spindle cells, numerous bundles of thick, glassy eosinophilic material (hyalinized collagen), and inflammatory cells. Spindle cells showed moderate anisocytosis and anisokaryosis, had oval nuclei with coarsely stippled chromatin, 1-3 prominent round nucleoli, and moderate amounts of wispy cytoplasm. Cells were occasionally associated with an eosinophilic extracellular matrix. Binucleated and trinucleated spindle cells were often noted. Low numbers of macrophages, small lymphocytes, and individual well-granulated mast cells were also present. The lesion was excised and submitted for histopathologic examination, revealing a well-delineated, nonencapsulated mass composed of hyalinized collagen fibers separated by spindle-shaped mesenchymal cells in the deep dermis and subcutis. Mild anisocytosis and anisokaryosis and less than one mitosis per 10 × high power fields were present. Excision of the mass was complete. The findings were consistent with a keloidal fibroma, a rare benign variant of fibroma. Neoplastic cells showed positive immunoreactivity for vimentin, and a small-to-moderate number of tumor cells showed positive immunoreactivity for α-smooth muscle actin. This is the first cytologic description of a keloidal fibroma correlated with histopathologic findings and immunolabeling. In cases where keloidal neoplasia is suspected, and since moderate cellular atypia can be present on cytologic examination even in cases of keloidal fibroma, histopathologic examination is necessary to differentiate between keloidal fibroma and keloidal fibrosarcoma.

Nonossifying Fibroma Involving Epiphysis of Long Bone-Case Report and Review of the Literature.

Nonossifying fibroma (NOF) is a common benign bone neoplasm and is usually observed in the first 2 decades of life. Most NOFs occur in the metaphysis of long bones of the lower extremities and migrate toward the diaphysis during skeletal maturation. Epiphyseal involvement by NOF has been rarely reported, with only one case found in the English literature. The authors report the second case of NOF involving the epiphysis of a long bone, the proximal tibia of a 21-year-old woman. Clinicians and pathologists should be aware of the rare possibility of epiphyseal involvement of long bones by this condition. Pathologists should select appropriate immunohistochemistry markers to rule out alternative diagnoses.

Elastofibroma dorsi: diagnóstico y seguimiento en atención primaria / Elastofibroma dorsi: Diagnosis and follow-up in primary care

Objetivo Presentar una serie de pacientes con elastofibroma dorsi (ED) para recordar la patología y justificar su manejo diagnóstico y terapéutico en el ámbito de la atención primaria. Materiales y métodos Estudio retrospectivo observacional y longitudinal de 12 pacientes con 18ED. Se analizaron las características epidemiológicas, clínicas y de imagen. Los resultados del tratamiento se evaluaron atendiendo al dolor (escala EVA), la función del hombro (escala de Constant y Murley) y la calidad de vida (escala EuroQol-5 dimension [EQ-5D]). El tiempo medio de seguimiento de los casos fue de 60,5meses (5años, RIC: 1-161meses). Resultados Seis pacientes fueron hombres y seis fueron mujeres, con edad media al diagnóstico de 59años. El diagnóstico de sospecha en todos los casos fue clínico y de imagen. Solo tres precisaron intervención quirúrgica. Los resultados de todos fueron satisfactorios. Conclusiones Tanto el diagnóstico como la indicación del tratamiento de un ED puede hacerse en el ámbito de la atención primaria. En los casos típicos, que son mayoría, la historia clínica y una ecografía permiten un diagnóstico de certeza. La indicación terapéutica conservadora o quirúrgica depende de la decisión del paciente informado. Cuando existen dudas diagnósticas o el paciente desea la resección quirúrgica de la tumoración, habría que derivar al paciente al especialista hospitalario (AU)

Objective To present a series of patients with elastofibroma dorsi (ED) in order to recall the pathology and justify its diagnostic and therapeutic management in the primary care setting. Materials and methods Retrospective observational and longitudinal study of 12 patients with 18ED. Epidemiological, clinical and imaging characteristics were analysed. Treatment outcomes were assessed in terms of pain (VAS scale), shoulder function (Constant and Murley scale) and quality of life (EuroQol-5 dimension scale, EQ-5D). The mean follow-up of the cases was 60.5months (5years, range 1-161months). Results Six patients were male and six were female, with a mean age at diagnosis of 59years. The diagnosis of suspicion in all cases was based in clinical and imaging findings. Only three required surgery. The results of all were satisfactory. Conclusions Both the diagnosis and the indication for treatment of an ED can be made in the primary care setting. In typical cases, which are the majority, the clinical history and an ultrasound study allow a diagnosis of certainty. The indication for conservative or surgical treatment depends on the informed patient. When there are diagnostic doubts or the patient wishes surgical resection of the tumour, the patient should be referred to a hospital specialist (AU)

Phosphaturic mesenchymal tumor: A chondromyxoid fibroma-like type.

Phosphaturic mesenchymal tumor (PMT) is a rare neoplasm that causes tumor-induced osteomalasia (TIO) in most affected patients, usually through the production of fibroblast growth factor 23 (FGF23). This tumor is often misdiagnosed due to its relative rarity and its widely varied histomorphologic spectrum. Here we describe a case of a 78-year-old woman who presented with a left middle tumor without symptoms of TIO. The histological features resembled chondromyxoid fibroma with smudgy calcification in the tumor matrix. In addition, we evaluated FGF23 expression through immunohistochemical study and reverse transcription polymerase chain reaction. PMT with chondromyxoid fibroma features are extremely rare. Examining the expression of FGF23 is useful in the diagnosis of PMT.

Hypercalcemia as a rare presentation of hyaline fibromatosis syndrome from different Sudanese families: two case reports.

BACKGROUND: Hyaline fibromatosis syndrome is a rare progressive autosomal recessive connective tissue disorder caused by a mutation in the ANTXR2/CMG2 gene. According to its severity, patients may present with skin nodules or visceral infiltration, which carries a poor prognosis. Hypercalcemia has not been reported as a presenting feature of this syndrome. Stimulation of osteoclasts by inflammatory factors and immobilization--induced hypercalcemia have played role in the pathophysiology. To our knowledge, this is the first report of hypercalcemia-associated hyaline fibromatosis syndrome. CASE PRESENTATION: Here, we describe cases of two Sudanese patients, a boy aged 9 months and a girl aged 3.5 years with hypercalcemia as an associated presenting feature of hyaline fibromatosis syndrome. Other features include gingival hypertrophy, painful joint swellings, and restriction of movement, which was misdiagnosed as juvenile rheumatoid arthritis. Workup showed normal phosphate, normal to mildly elevated parathyroid hormone, low vitamin D 25. Genetic testing confirmed the mutation of the ANTXR2/CMG2 gene. Both patients responded well to medical therapy for hypercalcemia, but one of them with the severe form of juvenile hyaline fibromatosis died due to sepsis, while the other one has maintained normocalcemic status. CONCLUSIONS: These cases highlight the rare presentation of this syndrome and reflect the importance of biopsy and genetic testing in reaching the diagnosis, especially when the clinical presentation can mimic other inflammatory bone disorders. Calcium levels should be checked in such cases.

A Case of an 82-Year-Old Man with a Spinal Extradural Malignant Ossifying Fibromyxoid Tumor.

BACKGROUND Ossifying fibromyxoid tumor (OFMT) is a rare mesenchymal tumor predominantly involving the subcutaneous tissues or skeletal muscles in the proximal extremities, typically in middle-aged men. OFMT in the spine is extremely rare, with only 3 previously reported cases in the literature. CASE REPORT Here, we present a rare case of an 82-year-old man presenting with paresthesia of both arms and weakness of both legs, who underwent magnetic resonance imaging (MRI) of the spine, which showed an aggressive extradural tumor. Following surgical debulking, histology examination revealed a tumor of stromal origin with myxoid and ossifying components and pleomorphic features. Overall findings were suggestive of a malignant OFMT. The patient underwent postoperative adjuvant radiotherapy. However, the first follow-up MRI study at 8 months showed residual tumor, which also demonstrated avid tracer uptake on technetium-99m scintigraphy and PET-CT scans. The second MRI follow-up about 9 months later showed several metastatic foci along the craniospinal axis. Despite subsequent resection of the spinal metastasis, the patient eventually died of sepsis about 21 months after the initial tumor diagnosis. CONCLUSIONS We presented a case of extradural spinal malignant OFMT and highlighted the difficulty distinguishing this rare primary tumor from spinal metastases. In this case, MRI signal intensities and identifying intratumoral bone formation, combined with histopathology following surgical resection, confirmed the diagnosis. This case has also shown the importance of follow-up by a multidisciplinary team to monitor for the recurrence of primary OFMT.

[Elastofibroma dorsi: Diagnosis and follow-up in primary care]. / Elastofibroma dorsi: diagnóstico y seguimiento en atención primaria.

OBJECTIVE: To present a series of patients with elastofibroma dorsi (ED) in order to recall the pathology and justify its diagnostic and therapeutic management in the primary care setting. MATERIALS AND METHODS: Retrospective observational and longitudinal study of 12 patients with 18ED. Epidemiological, clinical and imaging characteristics were analysed. Treatment outcomes were assessed in terms of pain (VAS scale), shoulder function (Constant and Murley scale) and quality of life (EuroQol-5 dimension scale, EQ-5D). The mean follow-up of the cases was 60.5months (5years, range 1-161months). RESULTS: Six patients were male and six were female, with a mean age at diagnosis of 59years. The diagnosis of suspicion in all cases was based in clinical and imaging findings. Only three required surgery. The results of all were satisfactory. CONCLUSIONS: Both the diagnosis and the indication for treatment of an ED can be made in the primary care setting. In typical cases, which are the majority, the clinical history and an ultrasound study allow a diagnosis of certainty. The indication for conservative or surgical treatment depends on the informed patient. When there are diagnostic doubts or the patient wishes surgical resection of the tumour, the patient should be referred to a hospital specialist.