Extraskeletal Myxoid Chondrosarcoma: A Case Report

Patient: Female, 58Final Diagnosis: Extraskeletal myxoid chondrosarcoma with widespread metastasesSymptoms: —Medication: —Clinical Procedure: Left below knee amputationSpecialty: OncologyObjective:Rare diseaseBackground:Extraskeletal myxoid chondrosarcoma is a unique and distinct clinicopathological entity in terms of its origin, morphology, and biologic behavior. Despite being a slow-growing tumor, it has a high rate of local recurrences and history of metastases to uncommon sites like the mandible, liver, retroperitoneum, right ventricle, pancreas, and central nervous system. Here, we report a very unique case of extraskeletal myxoid chondrosarcoma that metastasized to the breast, which itself is a very rare site for metastases.Case Report:A 58-year-old woman presented with a large, firm, and tender soft-tissue mass (6.0×7.0 cm) underneath the sole of the left foot. A computerized tomography (CT) scan showed a heterogeneous lobulated mass in the plantar aspect of the forefoot, measuring 8.6×8.0×7.1 cm. Punch biopsies revealed histology consistent with extraskeletal myxoid chondrosarcoma. Metastatic work-up was negative. The mass was fully resected with left below-knee amputation. The histology of the resected mass was consistent with extraskeletal myxoid chondrosarcoma. A follow-up CT showed a new right breast nodule along with metastases to lung and bones. The results of the core needle biopsies of the right breast masses seen on mammogram were morphologically identical to extraskeletal myxoid chondrosarcoma.Conclusions:Although rare, metastases to the breast should be considered in the differential diagnosis of a breast mass. A close long-term follow-up is needed due to the unpredictable behavior of extraskeletal myxoid chondrosarcoma and the high frequency of local recurrences, metastases, and death due to disease.

Background: Hidradenocarcinoma is a rare, aggressive tumor with a high rate of local recurrence and distant metastasis. There are no current management guidelines, and surgery has been used to control the primary disease. Even with wide surgical excision, the course of the tumor is unpredictable, and the prognosis for survival is poor. The most common location is the scalp, followed by the extremities, and rarely the trunk. Objective: To present a rare recurrent hidradenocarcinoma in the abdominal wall with no distant metastasis. Case presentation: We present a rare case of recurrent hidradenocarcinoma on the abdominal wall in a 56-year-old male with no known distant metastasis treated with wide surgical excision. Conclusion: This case represents the second reported case of hidradenocarcinoma involving the abdominal wall in the literature. Wide surgical excisions of the tumor with wide safe margins carry excellent outcomes on 5-year follow-up. Keywords: Recurrent hidradenocarcinoma; Abdominal wall hidradenocarcinoma; Distant metastasis; Case report.

Metastasis of adenoid cystic carcinoma from a submandibular gland to the larynx

Introduction and importanceMalignant Peripheral Nerve Sheath Tumor (MPNST) is a rare type of soft tissue sarcoma. It is an aggressive tumor with high rates of local recurrence and distant metastasis. MPNST rarely occurs in the neck. We present a case of cervical MPNST manifesting as Carotid Body Tumor (CBT). Case presentationA 67-year-old man presented with a neck mass. The mass was rapidly enlarging and imaging studies favored CBT. A previous attempt at surgical resection failed, and the compressive symptoms were progressive during recent weeks. After multidisciplinary discussion, the tumor was resected and pathological evaluation confirmed the diagnosis of MPNST. Post-operative metastatic work-up showed lung metastasis, and the patient died approximately one year after surgery. Clinical discussionCervical MPNST is rare, and surgery is the mainstay of its treatment. Pre-operative tissue diagnosis is recommended when possible, and immunohistochemical staining is necessary for prompt diagnosis. Adjuvant therapy may be helpful in metastatic cases or incomplete resection. Nevertheless, local recurrence and distant metastasis especially to the lungs are common, as in our case. ConclusionMPNST is one of the potential causes of cervical masses and considering its invasive behavior, surgical resection is recommended as soon as the diagnosis is made.

Triple-negative breast cancer (TNBC) has high rates of local recurrence and distant metastasis, partially due to its high invasiveness. The Forkhead box C1 (FOXC1) transcription factor has been shown to be specifically overexpressed in TNBC and associated with poor clinical outcome. How TNBC’s high invasiveness is driven by FOXC1 and its downstream targets remains poorly understood. In the present study, pathway-specific PCR array assays revealed that WNT5A and matrix metalloproteinase-7 (MMP7) were upregulated by FOXC1 in TNBC cells. Interestingly, WNT5A mediates the upregulation of MMP7 by FOXC1 and the WNT5A-MMP7 axis is essential for FOXC1-induced invasiveness of TNBC cells in vitro. Xenograft models showed that the lung extravasation and metastasis of FOXC1-overexpressing TNBC cells were attenuated by knocking out WNT5A, but could be restored by MMP7 overexpression. Mechanistically, FOXC1 can bind directly to the WNT5A promoter region to activate its expression. Engineered DNA-binding molecule-mediated chromatin immunoprecipitation (enChIP), coupled with mass spectrometry, identified FOXC1-interacting proteins including a group of heterogeneous nuclear ribonucleoproteins involved in WNT5A transcription induction. Finally, we found that WNT5A activates NF-κB signaling to induce MMP7 expression. Collectively, these data demonstrate a FOXC1-elicited non-canonical WNT5A signaling mechanism comprising NF-κB and MMP7 that is essential for TNBC cell invasiveness, thereby providing implications toward developing an effective therapy for TNBC.

Head and neck tumours are common malignancies that are associated with high mortality. The low rate of early diagnosis and the high rates of local recurrence and distant metastasis are the main reasons for treatment failure. Recent studies have established that the tumour microenvironment (TME) can affect the proliferation and metastasis of head and neck tumours via several mechanisms, including altered expressions of certain genes and cytokines. Increasing evidence has shown that epigenetic modifications, such as DNA methylation, histone modification, RNA modification, and non-coding RNAs, can regulate the head and neck TME and thereby influence tumour development. Epigenetic modifications can regulate the expression of different genes and subsequently alter the TME to affect the progression of head and neck tumours. In addition, the cell components in the TME are regulated by epigenetic modifications, which, in turn, affect the behaviour of head and neck tumour cells. In this review, we have discussed the functions of epigenetic modifications in the head and neck TME. We have further examined the roles of such modifications in the malignancy and metastasis of head and neck tumours.

C6-ceramide induces salivary adenoid cystic carcinoma cell apoptosis via IP3R-activated UPR and UPR-independent pathways

ÖzAmaç: Kutanöz skuamöz hücreli karsinomların (KSHK) erken dönemde teşhis edilmesi prognozu etkileyen en önemli faktördür ve iyi prognoza sahip vakalar çoğunluktadır.Yüksek riskli grup olarak tanımlanan bazı vakaların bölgesel tekrarlama ve uzak metastaz oranları oldukça yüksek olup agresif bir seyir izlerler

Gigantic undifferentiated pleomorphic sarcoma (UPS) of breast in a woman: A rare case report.

<p>Supplementary Figure S2. (Top) Hypoxia-M V2 is prognostic in the DKTK-ROG cohort. Patients predicted to have higher tumor hypoxia by Hypoxia-M V2 had higher rates of death (p=0.0097), local recurrence (p=0.0037), distant metastasis (p=0.027) and disease progression (p=0.00096). (Bottom) Hypoxia-M V2 remains an independent prognosticator of OS, LR and disease progression after adjusting for age, smoking status, GTV and anatomical site. Additionally, there is a trend towards higher rates of distant metastasis (HR=2.33, p=0.13)</p>

Introduction: Extra skeletal myxoid chondrosarcoma is a rare soft tissue tumor. It is a low-grade sarcoma, arising mainly in the deep tissues and musculature of the extremities, with a histological resemblance to its bony counterpart. It accounts for less than 3% of soft tissue sarcomas, and localizes mainly in the upper extremity, shoulder, neck, orbit but also intra-abdominally. It is a tumor with a high metastatic potential and an unfavorable long-term prognosis. Extra skeletal myxoid chondrosarcoma is a tumor occurring in middle-aged patients regardless of gender or race. Treatment is multimodal including surgery, radiation therapy and chemotherapy. Case presentation: A 37-year-old female patient consulted for a subcutaneous swelling on the sole of the left foot opposite the 5th toe; evolving for approximately six years. The clinical examination and the paraclinical work-up revealed a mass that encompassed the diaphysis of the 5th metatarsal with cortical lysis opposite. This mass arrived medially at the contact of the 4th metatarsal without cortical lysis. The extension work-up was unremarkable. The histological, immunohistochemical and molecular biology examination of the surgical biopsy concluded to an extra skeletal myxoid chondrosarcoma. Polychemotherapy with andriamycin and Ifosfamide, surgery and radiotherapy at a dose of 50Gy was performed. Conclusion: Rare tumor and of difficult diagnosis, the key of the diagnosis lies in molecular biology. Survival is often prolonged despite its local aggressiveness.

To review the MRI, histological, and clinical features of extraskeletal myxoid chondrosarcoma (EMC). Retrospective review of pre-treatment MRIs in 44 patients with pathologically proven EMC. Patient demographics, tumor MR-imaging features, histology and gene rearrangements, clinical management, and follow-up were reviewed. MRI features assessed included lesion size, location, morphology, signal characteristics, and relation to adjacent structures. Correlative analysis was performed to assess associations between demographic, clinical, molecular, and MRI variables with metastatic disease. EMCs were predominantly located in the lower extremity (38/44, 86%) and deep-to-fascia (36/44, 82%). All lesions (44/44) demonstrated well-circumscribed margins. Mean maximal dimension was 8.8cm (range 1.7-36cm); 93% (41/44) of lesions were hyperintense on fat-suppressed T2-weighted/ STIR imaging. Post-contrast enhancement was "solid" (> 80% enhancement) in 18%, "mixed" (20-80% enhancement) in 53%, and "sparse" (< 20% enhancement) in 29%. Nodal metastases were detected on preoperative imaging in four patients (9%), and pulmonary metastases in three cases preoperatively, and five cases postoperatively (range 14-128months). EWSR1::NR4A3 fusion rearrangements were documented in 25 tumors (57%), and non-EWSR1 NR4A3 fusions in six cases (14%). The only variable demonstrating a significant correlation with metastatic disease was "solid" pattern of lesional enhancement (p = 0.035). EMC is most commonly a deep lesion of the extremities demonstrating hyperintense T2-weighted signal, internal septations, and variable patterns of enhancement on MRI. Nodal disease is relatively frequent, and prolonged surveillance is recommended as metastases may develop years after diagnosis. Although analysis is limited by small case numbers, a "solid" (> 80%) pattern of enhancement was significantly associated with metastatic disease.

Extraskeletal myxoid chondrosarcoma (EMC) is a rare malignant soft tissue tumor that most commonly arises in the extremities. Its occurrence in the genitourinary tract is extremely uncommon. We present an 82-year-old man who was found to have incidental pulmonary metastasis by imaging studies. The biopsy findings from the lung were in favor of metastatic EMC. The primary mass was found to be located at the penile root, which was confirmed to be EMC. This case adds to the few reported cases of EMC arising in the perineal region, and sheds light on the clinical behavior of this soft tissue tumor.

To summarize the diagnostic features of fine needle aspiration cytology (FNAC) of myxoid lesions in soft tissue, and to define the cytological criteria for differentiating benign lesions from sarcomas and between various myxoid lesions. FNAC data of 24 soft tissue myxoid lesions (14 benign lesions, 10 malignant lesions) from 1993 to 2006 from Kiang Wu Hospital, Macau were reviewed in correlation with the clinical course or the results of biopsy. Ganglion, myxoma, and myxoid nodular fasciitis were the most common benign myxoid lesions of the soft tissues, all of which had low cellularity and lack of marked cellular atypia in smears in common. Ganglion was characterized by the disappearance of or the gradual minimization of the nodule after aspiration and the lack of blood vessel in smears. Myxoid nodular fasciitis was characterized by a pleomorphic pattern of proliferative cells and the presence of ganglion cell-like cells. Myxoid liposarcoma, extraskeletal myxoid chondrosarcoma and myxofibrosarcoma were the most common myxoid sarcomas. Cytologically, they had high cellularity and various degrees of cellular atypia. Myxoid liposarcoma exhibited branching chicken-wire like capillary vessels and/or lipoblasts; myxofibrosarcoma were prominent in both pleomorphic and atypia of the cells. The data revealed that the diagnostic accuracy of FNAC was nearly 100% in differentiating benign and malignant myxoid lesions of the soft tissues. The coordinate rate to the histopathology diagnosis of the common myxoid lesions of the soft tissues was above 75% (benign 71.4% and malignancy 80% respectively). FNAC is an effective method in diagnosing myxoid lesions of soft tissue, in correlation with the clinical data and the accessory examinations. FNAC can provide an objective basis for the treatment of myxoid lesions and prevention of unnecessary surgical operations.

Extraskeletal myxoid chondrosarcoma is a rare malignant soft-tissue tumour that is typically in the deep soft tissues of the lower extremity. The tumour is usually a well-defined, multinodular soft-tissue mass without calcifications. A 62-year-old woman with a history of nasopharyngeal cancer presented with a palpable mass in the anterior neck. Radiologically, the lesion was a well-defined soft-tissue mass with the extensive calcifications on various imaging examinations. Although this lesion was histopathologically diagnosed as extraskeletal myxoid chondrosarcoma, the unusual imaging findings were challenging and very intriguing.