Clinical, imaging and pathological features of extraskeletal myxoid chondrosarcoma.

OBJECTIVE: To evaluate clinical and radiological features of extraskeletal myxoid chondrosarcomas (EMC). MATERIAL AND METHODS: Our pathology database was queried for cases of EMCs. Tumor location, size, imaging appearance, presence of metastases, disease recurrence, and clinical outcome were documented. Imaging studies were evaluated in consensus by a musculoskeletal radiologist and an orthopedic oncologist. RESULTS: Thirty subjects met the inclusion criteria (mean age 52.7 ± 16.2 years; 19 male, 11 female), 17 (56.7%) of which had pre-operative imaging. Tumors occurred most often in the lower extremities (20/30; 66.7%). All cases presented as a soft-tissue mass without mineralization on XR or CT. On MRI, tumors were typically hyperintense on T2-weighted sequences (14/14; 100%) and had a chondroid matrix appearance (12/14; 85.7%). Tumor invasion was observed in 11 out of 16 (68.9%) patients and necrosis in 2 out of 11 subjects (18.2%). All subjects had their tumors examined by pathology, and 20 (66.7%) subjects also had descriptive information in addition to the diagnosis (tumor invasion, mitotic rate, and necrosis) noted in the pathology reports. The mean duration of follow-up was 9.4 ± 7.5 (1.0 - 29.6) years. At the last follow-up, 14 out of 28 (50%) subjects were disease-free, 6 out of 28 had persistent metastatic disease and 8 out of 28 had died. CONCLUSIONS: EMC is a rare sarcoma that commonly presents as lower extremity soft tissue mass with chondroid appearance on MRI. Unlike conventional chondrosarcomas, EMC do not demonstrate mineralization on XR or CT.

A Case Report of Primary Mediastinal Liposarcoma: A Rare Mediastinal Tumor.

Liposarcomas account for about 20% of all sarcomas among mesenchymal neoplasms. Myxomatous liposarcoma is a rare mediastinal tumor that seems the same as other lung disorders. The most common presenting symptoms are chest pain, dyspnea, and dysphagia. Most of the diagnostic findings are provided by radiological or postoperative histopathological tests. Surgery and chemotherapy, in some cases, are the basis of treatment. People with this condition have a higher probability of a favorable outcome if they receive an early diagnosis and treatment. We present a case of a 48-year-old male with primary mediastinal liposarcoma. The patient complained of chest pain and shortness of breath with a productive cough. Computed tomography (CT) showed a large right cystic mass on the right lower thoracic cavity. Surgery was done, and a histopathological examination of the surgical specimen confirmed the diagnosis.

Left distal sciatic giant solitary myxoid neurofibroma: a case report & literature review.

Introduction: Neurofibroma, a rare benign tumor of the peripheral nervous system, can manifest anywhere along a nerve from the dorsal ganglion to its terminal branches. Myxoid neurofibroma can present as a solitary non-tender nodule and is often confirmed by positive immunohistochemical staining for S-100 protein. However, in 50% of cases, neurofibromas are associated with neurofibromatosis. Case presentation: We present a case of a 34-year-old male with mild pain in the posterior part of his left thigh, accompanied by a slowly-growing swelling particularly noticeable when flexing his knee. It had gradually increased in size over several months, which the patient observed as a decrease in the degree of knee extension. Initial biopsy indicated schwannoma with no evidence of malignancy. Four years later, the swelling increased in size and necessitated resection surgery, revealing an irregular giant tumor measuring 8 *6 *4.5 cm, adherent to adjacent structures, including the femur, muscles, popliteal artery and vein, and a branch of the sciatic nerve. Pathological analysis reclassified the diagnosis to low-grade myxoid neurofibroma. Follow-up MRI three months later showed gross total resection without residual or recurrence of the tumor. Discussion: Solitary neurofibromas are often small in size, ranging from 1 to 2 cm in the greatest dimension. Alternatively, tumors that occur as a part of genetic neurofibromatosis tend to be multiple and often grow to large sizes. In our case, the patient didn't have neurofibromatosis as he didn't meet its diagnostic criteria despite having a giant tumor measuring approximately 8*6*4.5 cm. To our knowledge, this is the first report of giant myxoid solitary neurofibroma of the thigh apart from neurofibromatosis. Thus, this type of tumor should be considered in the differential diagnosis of tumors at this location.

Myxoid variant of plexiform fibrohistiocytic tumor: case report.

Background: Plexiform fibrohistiocytic tumor (PFH) is a rarely metastasizing slowly growing neoplasm usually affecting children and young adults. The tumor usually has a dermal-subcutaneous location, is poorly circumscribed, and is comprised of a plexiform or multinodular proliferation of a variable admixture of fibroblasts and histiocytoid cells with a distinctive biphasic morphology. Myxoid change in PFH is extremely rare with only five cases of myxoid variant of PFH reported to date in the English literature. Case Description: In this case report, the author describes a rare case in a 39-year-old man who had presented with a newly developed right forearm mass. Given the tumor's unusual morphology an extensive immunohistochemical and molecular workup was performed to rule out common superficial myxoid neoplasms and potential mimickers. The overall ancillary findings along with the histomorphologic features and immunoprofile of the entirely excised mass were eventually compatible with myxoid PFH. Conclusions: Myxoid PFH is a rare or underrecognized entity that can present as a diagnostic pitfall and can lead to an erroneous diagnosis especially if the pathologist is unaware of such entity. In this case report the author sheds light on this unique tumor, myxoid PFH, discusses the pitfalls inherent to its differential diagnosis, and reviews the literature on such a rare phenomenon.

Myxoid Pleomorphic Liposarcoma of the Spermatic Cord: A Rare Entity at a Rare Site.

Myxoid pleomorphic liposarcoma (MPLPS) is an extremely rare entity that has been recognized and included in the literature recently. Liposarcomas are adipocytic tumors that are usually located in the extremities and retroperitoneum. Paratesticular liposarcomas are extremely rare malignant tumors originating from the adipose tissue of the paratesticular region. Myxoid pleomorphic liposarcoma (MPLPS) is an exceedingly rare variant of liposarcoma, with very few cases reported in the literature so far. Mediastinum is the most common site for MPLPS followed by the limbs, head, and neck. We report a case of a 50-year-old male patient who presented with a swelling in the right inguinal region, which came to the patient's attention in the past month. After investigations, a right-high orchidectomy was done. Histopathological examination and immunohistochemistry were performed and a diagnosis of myxoid pleomorphic liposarcoma (MPLPS) involving the spermatic cord was made. So here we report this case of myxoid pleomorphic liposarcoma involving the spermatic cord for the first time in the literature.

Comparisons of magnetic resonance imaging, histopathological and Ki-67 labeling index findings in a single myxofibrosarcoma: a case report.

BACKGROUND: Myxofibrosarcoma is a myxoid soft tissue sarcoma showing T2 high intensity on magnetic resonance imaging. However, myxofibrosarcoma is a heterogeneous sarcoma with both myxoid and cellular portions. Magnetic resonance imaging findings were obtained MRI findings for comparison with histological and Ki-67 immunohistochemical features, in different portions of one myxofibrosarcoma. CASE PRESENTATION: Magnetic resonance imaging observations were compared with gross pathological and microscopic findings of a myxofibrosarcoma from a 50-year-old Japanese female. The Ki-67 labeling indices of different portions of the tumor, that is, the myxoid, cellular, and histologically confirmed infiltrative margin portions (pathological tail sign), were compared. The T2 low intensity area was more cellular than the T2 high intensity area, while the cellular portion had a significantly higher Ki-67 index than the myxoid portion (p = 0.0313). The portions with the pathological tail sign had a significantly higher Ki-67 labeling index than those without this sign (p = 0.0313). CONCLUSIONS: More cellular portions of a myxofibrosarcoma correspond to more areas of the tumor showing aggressive features. Furthermore, our data also support the hypothesis of high aggressiveness being associated with the pathological tail sign in myxofibrosarcoma. To our knowledge, this is the first case report to describe comparisons among the imaging findings, histological features, and Ki-67 immunohistochemistry results for different portions of one myxofibrosarcoma.

Fluorescence in situ hybridization-negative intra-articular myxoid liposarcoma with complex rearrangements involving EWSR1::DDIT3 detected using nanopore sequencing.

Myxoid liposarcoma (MLPS) is a rare sarcoma, typically arising in deep soft tissues during the fourth to fifth decades of life. Histologically, MLPS is composed of uniform oval cells within a background of myxoid stroma and chicken-wire capillaries. Genetically, MLPS is characterized by the FUS/EWSR1::DDIT3 fusion gene, which generally results from balanced interchromosomal translocation and is detectable via DDIT3 break-apart fluorescence in situ hybridization (FISH). Here, we report an unusual intra-articular MLPS case, negative for DDIT3 break-apart FISH but positive for EWSR1::DDIT3. An 18-year-old female was referred to our hospital complaining of an intra-articular mass in the right knee joint. Histologically, the tumor was mainly composed of mature adipocytes, brown fat-like cells, and lipoblasts. Nanopore sequencing detected DNA rearrangements between EWSR1 and DDIT3 and clustered complex rearrangements involving multiple chromosomes, suggesting chromoplexy. Methylation classification using random forest, t-distributed stochastic neighbor embedding, and unsupervised hierarchical clustering correctly classified the tumor as MLPS. The copy number was almost flat. The TERT promoter C-124T was also detected. This report highlights, for the first time, the potential value of a fast and low-cost nanopore sequencer for diagnosing sarcomas.

Primary pulmonary myxoid sarcoma in the interlobar fissure of the left lung lobe: a case report.

BACKGROUND: Primary pulmonary myxoid sarcoma (PPMS) is a rare, low-grade malignant tumor, constituting approximately 0.2% of all lung tumors. Despite its rarity, PPMS possesses distinctive histological features and molecular alterations, notably the presence of EWSR1-CREB1 gene fusion. However, its precise tissue origin remains elusive, posing challenges in clinical diagnosis. CASE DEMONSTRATION: A 20-year-old male patient underwent a routine physical examination 6 months prior, revealing a pulmonary mass. Following surgical excision, microscopic evaluation unveiled predominantly short spindle-shaped tumor cells organized in a fascicular, beam-like, or reticular pattern. The stromal matrix exhibited abundant mucin, accompanied by lymphocytic and plasma cell infiltration, with Russell bodies evident in focal areas. Immunophenotypic profiling revealed positive expression of vimentin and epithelial membrane antigen in tumor cells, whereas smooth muscle actin and S-100, among others, were negative. Ki-67 proliferation index was approximately 5%. Subsequent second-generation sequencing identified the characteristic EWSR1-CREB1 gene fusion. The definitive pathological diagnosis established PPMS. The patient underwent no adjuvant chemotherapy or radiotherapy and remained recurrence-free during a 30-month follow-up period. CONCLUSIONS: We report a rare case of PPMS located within the left lung lobe interlobar fissure, featuring Russell body formation within the tumor stroma, a novel finding in PPMS. Furthermore, the histomorphological characteristics of this case highlight the diagnostic challenge it poses, as it may mimic inflammatory myofibroblastic tumor, extraskeletal myxoid chondrosarcoma, or hemangiopericytoma-like fibrous histiocytoma. Therefore, accurate diagnosis necessitates an integrated approach involving morphological, immunohistochemical, and molecular analyses.

Myxoid leiomyosarcoma of the oviduct and uterus in a Cockatiel (Nymphicus hollandicus).

An 11-year-old female cinnamon cockatiel (Nymphicus hollandicus) was presented with a coelomic distention. Dystocia was suspected, given its previous history of a calcium-deficient diet and multiple instances of nonobstructive dystocia. Exploratory coeliotomy revealed a large intraluminal mass extending through the magnum to the uterus (shell gland). Metastasis and multiorgan involvement were not seen. Histopathologically, malignant and invasive fascicles of spindle cells were associated with abundant myxoid matrix and hypocellular areas. Multinucleation, bizarre cells and atypical mitotic figures were prominent. Masson's trichrome staining verified the muscular origin, and the myxoid matrix was demonstrated utilizing Alcian blue. The neoplastic cells exhibited alpha-smooth muscle actin and desmin immunoreactivity and were negative for vimentin. Thus, the patient was diagnosed with oviductal and uterine myxoid leiomyosarcoma (LMS). The patient survived 34 days post-surgery before death associated with suspected enteritis. Myxoid LMS is an extremely rare neoplasm in animals. To our knowledge, myxoid LMS has not been reported previously in pet birds.

Primary Extraskeletal Falcine Myxoid Chondrosarcoma-A Case Report and Review of Literature.

Intracranial chondrosarcomas are rare malignant lesions. Both skull base and dural-based extraosseous chondrosarcomas have been reported to occur intracranially. Dural-based chondrosarcomas arising from the falx cerebri are rare lesions with only 19 cases reported till date. Although conventional, mesenchymal, and myxoid variants of chondrosarcomas have been reported intracranially, myxoid variant are the rarest with only 17 cases reported till date, among which only 2 were falcine. We are reporting the third case of falcine myxoid chondrosarcoma in a 32-year-old man who presented with seizures and subtle lower limb weakness. Radiological findings were suggestive of an atypical meningioma in the falcine region. Macroscopically total resection of the tumor was done. Histopathological examination confirmed myxoid chondrosarcoma, grade 1. Postoperative period was uneventful, and the patient remains asymptomatic 34 months after the surgery without the application of any adjuvant therapy. Falcine myxoid chondrosarcomas are extremely rare lesions with variable aggressiveness as suggested by the three cases reported till now including the present case.

A Rare Case of Pleural Epithelioid Mesothelioma With a Prominent Myxoid Stroma Reported With Morphology, Fluorescent In Situ Hybridization, and Ultrastructural Findings.

Herein, we report a rare case of pleural epithelioid malignant mesothelioma with a prominent myxoid stroma. To date, detailed morphological or molecular pathological findings have not been reported for this type of tumor. Hence, we aimed to describe the cytological, histological, immuno-cytohistological, electron-microscopic, and molecular pathological findings using fluorescence in situ hybridization (FISH) in such a case. The patient was a male in his mid-sixties with a history of asbestos exposure and had originally visited the hospital with a persistent cough and fever. Chest radiography revealed left pleural effusion, and laboratory examination revealed a high titer for hyaluronic acid in the effusion. Additionally, computed tomography revealed diffuse multinodular or cystic lesions in the left parietal pleura, and pleural effusion cytology revealed large epithelioid cells with mild nuclear atypia, which were considered reactive mesothelial cells. Cytologically, Giemsa staining revealed that these cells harbored variously sized intracytoplasmic vacuoles that were Alcian-blue-positive, suggesting hyaluronan production. Biopsy revealed large epithelioid cells that loosely proliferated against a prominent myxoid background. These cells were immuno-positive for calretinin, Wilms' tumor 1, D2-40, vimentin, and cytokeratin AE1/AE3 but not for carcinoembryonic antigen, Ber-EP4, or desmin. BRCA 1 associated protein 1 immunostaining showed nuclear loss, and FISH showed homozygous deletion of cyclin-dependent kinase inhibitor 2A (p16) on chromosome 9p21. Based on these findings, the lesion was diagnosed as an epithelioid mesothelioma with a prominent myxoid stroma. Electron-microscopy demonstrated a dense microvillus pattern on the surface of the tumor cells, indicating a mesothelial cell origin, and variously sized vacuoles in the cytoplasm, confirming the presence of intracytoplasmic vacuoles demonstrated on cytology. The tumor tissues obtained during surgery harbored prominent myxoid stroma, which proved that the present tumor was consistent with this type of mesothelioma. After informed consent was obtained, the patient and family wished for total resection of the tumor and postoperative chemotherapy, and the patient eventually died eight months after surgery.

Imaging of pediatric glioneuronal and neuronal tumors.

Glioneuronal tumors (GNTs) are an expanding group of primary CNS neoplasms, commonly affecting children, adolescents and young adults. Most GNTs are relatively indolent, low-grade, WHO grade I lesions. In the pediatric age group, GNTs have their epicenter in the cerebral cortex and present with seizures. Alterations in the mitogen-activated protein kinase (MAPK) pathway, which regulates cell growth, are implicated in tumorigenesis. Imaging not only plays a key role in the characterization and pre-surgical evaluation of GNTs but is also crucial role in follow-up, especially with the increasing use of targeted inhibitors and immunotherapies. In this chapter, we review the clinical and imaging perspectives of common pediatric GNTs.

PLAG1-Rearranged Uterine Sarcomas: A Study of 11 Cases Showing a Wide Phenotypical Spectrum Not Limited to Myxoid Leiomyosarcoma-like Morphology.

PLAG1 gene fusions were recently identified in a subset of uterine myxoid leiomyosarcomas (M-LMS). However, we have encountered cases of PLAG1-rearranged uterine sarcomas lacking M-LMS-like morphology and/or any expression of smooth muscle markers. To better characterize their clinicopathologic features, we performed a multiinstitutional search that yielded 11 cases. The patients ranged in age from 34 to 72 years (mean, 57 years). All tumors arose in the uterine corpus, ranging in size from 6.5 to 32 cm (mean, 15 cm). The most common stage at presentation was pT1b (n = 6), and 3 cases had stage pT1 (unspecified), and 1 case each presented in stages pT2a and pT3b. Most were treated only with hysterectomy and adnexectomy. The follow-up (range, 7-71 months; median, 39 months) was available for 7 patients. Three cases (7-21 months of follow-up) had no evidence of disease. Three of the 4 remaining patients died of disease within 55 to 71 months, while peritoneal spread developed in the last patient, and the patient was transferred for palliative care at 39 months. Morphologically, the tumors showed a high intertumoral and intratumoral heterogeneity. M-LMS-like and epithelioid leiomyosarcoma-like morphology were present in 3 and 5 primary tumors, respectively, the remaining mostly presented as nondescript ovoid or spindle cell sarcomas. Unusual morphologic findings included prominently hyalinized stroma (n = 3), adipocytic differentiation with areas mimicking myxoid liposarcoma (n = 2), osteosarcomatous differentiation (n = 1), and undifferentiated pleomorphic sarcoma-like areas (n = 1). The mitotic activity ranged from 3 to 24 mitoses per 10 high-power fields (mean, 9); 3 of 10 cases showed necrosis. In 3 of 11 cases, no expression of smooth muscle actin, h-caldesmon, or desmin was noted, whereas 5 of 5 cases expressed PLAG1. By RNA sequencing, the following fusion partners were identified: PUM1, CHCHD7 (each n = 2), C15orf29, CD44, MYOCD, FRMD6, PTK2, and TRPS1 (each n = 1). One case only showed PLAG1 gene break by fluorescence in situ hybridization. Our study documents a much broader morphologic spectrum of PLAG1-rearranged uterine sarcomas than previously reported, encompassing but not limited to M-LMS-like morphology with occasional heterologous (particularly adipocytic) differentiation. As it is currently difficult to precisely define their line of differentiation, for the time being, we suggest using a descriptive name "PLAG1-rearranged uterine sarcoma."

One case of myxoid glioneuronal tumour in the left frontal lobe.

Myxoid glioneuronal tumour (MGNT), previously described as dysembryoplastic neuroepithelial tumour of the septum pellucidum, was classified as a new tumour type in the fifth edition of the WHO Central Nervous System Tumor Classification of 2021. This classification was based on its anatomical location, imaging features, and genetic characteristics. MGNTs are clinically rare and prone to misdiagnosis. In this report, we present a case of MGNT in the left frontal lobe, which was confirmed through surgical pathology.

Novel CRTC1::MRTFB(MKL2) Gene Fusion Detected in Myxoid Mesenchymal Neoplasms With Myogenic Differentiation Involving Bone and Soft Tissues.

Appropriate classification of fusion-driven bone and soft tissue neoplasms continues to evolve, often relying on the careful integration of morphologic findings with immunohistochemical, molecular, and clinical data. Herein, we present 3 cases of a morphologically distinct myxoid mesenchymal neoplasm with myogenic differentiation and novel CRTC1::MRTFB (formerly MKL2) gene fusion. Three tumors occurred in 1 male and 2 female patients with a median age of 72 years (range: 28-78). Tumors involved the left iliac bone, the right thigh, and the left perianal region with a median size of 4.0 cm (4.0-7.6 cm). Although 1 tumor presented as an incidental finding, the other 2 tumors were noted, given their persistent growth. At the time of the last follow-up, 1 patient was alive with unresected disease at 6 months, 1 patient was alive without evidence of disease at 12 months after surgery, and 1 patient died of disease 24 months after diagnosis. On histologic sections, the tumors showed multinodular growth and were composed of variably cellular spindle to round-shaped cells with distinct brightly eosinophilic cytoplasm embedded within a myxoid stroma. One tumor showed overt smooth muscle differentiation. Cytologic atypia and mitotic activity ranged from minimal (2 cases) to high (1 case). By immunohistochemistry, the neoplastic cells expressed focal smooth muscle actin, h-caldesmon, and desmin in all tested cases. Skeletal muscle markers were negative. Next-generation sequencing detected nearly identical CRTC1::MRTFB gene fusions in all cases. We suggest that myxoid mesenchymal tumors with myogenic differentiation harboring a CRTC1::MRTFB fusion may represent a previously unrecognized, distinctive entity that involves soft tissue and bone. Continued identification of these novel myxoid neoplasms with myogenic differentiation will be important in determining appropriate classification, understanding biologic potential, and creating treatment paradigms.

Enormous myxoid/round cell liposarcoma: A case report.

Myxoid/round cell liposarcomas (MRCLPS) are a rare soft tissue sarcoma. We report the largest sarcoma in our institutional history. We discuss the patient's surgical management and treatment of the tumor and challenges given its dimensions. Several complications arose following primary resection that were managed by a multidisciplinary team. Although MRCLPS can vary in size, large MRCLPS must be treated cautiously given the potential for complications. Additionally, multidisciplinary treatment of MRCLPS is essential in diagnosing and treating these complex cases.

A case report of giant paratesticular myxoid liposarcoma.

Liposarcomas are an uncommon occurrence in the paratesticular region that makes about 20 % of all sarcomas. The clinical appearance is an inguinal lump, which can resemble a hydrocele or hernia. There would be no conventional treatment accessible because it is such a rare disease. We report the case of a 68-year-old man with paratesticular myxoid liposarcoma. Ultrasound and CT-scan came back in favor of a paratesticular tumor. A high inguinal orchidectomy has been done and the diagnostic of myxoid liposarcoma was first evoked by histology and confirmed by molecular biology. At 12 months follow up the patient remains tumor free.

Carney complex: a case report of bilateral breast myxoid fibroadenomas.

Carney complex is a rare autosomal dominant familiar multiple neoplasia syndrome combined with cardiocutaneous manifestations. Our report describes a Carney complex case with bilateral myxoid fibroadenomas that led to a bilateral mastectomy. An 18-year-old female patient presented at our clinic with complaints of multiple palpable lumps in her breasts bilaterally. On physical examination the patient had also multiple pigmented lentiginous lesions on her face, body and her sclerae, blue nevi on her trunk and upper extremities and a round moon-shaped face. The diagnosis of Carney syndrome was decided upon imaging, biopsies and genetic analysis. The patient underwent a bilateral mastectomy as a prophylactic treatment plan with tissue expanders' placement. Breast myxomatosis due to Carney complex is a common characteristic in female patients. Prophylactic mastectomy must be considered as a therapeutic intervention in these cases since it provides a definite treatment, with minimal side effects and excellent outcomes.