Extraskeletal myxoid chondrosarcoma metastasis to a Meckel's diverticulum adenocarcinoma.

Extraskeletal myxoid chondrosarcoma is a rare soft tissue tumour with a high local and distant metastasis rate and limited response to chemotherapy. Meckel's diverticulum is the most frequent congenital anomaly, and it is associated with a considerable risk of malignant transformation. In this case report, we describe a 50-year-old female patient with a history of extraskeletal myxoid chondrosarcoma of the lower limb and metastasis to the forearm who went to the emergency department with abdominal pain. The investigations revealed a caecal volvulus. A lesion in the middle third of the ileum was incidentally discovered and removed during surgery. Pathology examination revealed a Meckel's diverticulum adenocarcinoma, with metastasis of extraskeletal myxoid chondrosarcoma. Resection was complete; however, the patient had diffuse metastatic pulmonary disease and died eight months later due to disease progression. This mechanism of tumour-to-tumour metastasis is described in other locations, but, regarding the Meckel's diverticulum, this is a unique situation, previously unreported in the literature.

Chondrosarcoma of the petrous apex with nerve abducens involvement in a woman with pre-existing contralateral amblyopia.

We report about a case of a woman in her 50s with a chondrosarcoma of the petrous apex. She has a strabism due to a right-sided amblyopia since childhood and noticed a slowly progressive squint angle in the last months. Her general practitioner (GP) referred her to an ophthalmologist who diagnosed a left abducens paresis and initiated an MRI demonstrating a mass in the left petrous apex. A transnasal endoscopic transsphenoidal biopsy revealed a grade I chondrosarcoma. The patient underwent an endoscopic transsphenoidal anterior petrosectomy approach with complete removal of the tumour. After surgery the squint angle gradually improved to previous levels, so that the patient was able to resume her work. This report demonstrates that even slight changes of a squint angle without diplopia, in this case because of pre-existing amblyopia, could be a hallmark of an intracranial process.

Maffucci syndrome complicated by giant chondrosarcoma in the left ankle with an IDH1 R132C mutation: a case report.

BACKGROUND: Maffucci syndrome (MS) is a rare, nonhereditary congenital mesodermal dysplasia characterized by multiple enchondromas and hemangiomas, associated with an increased risk of developing malignant tumors. Given their rarity, the pathogenesis of these tumors has not been clarified, and there is no standard treatment. CASE PRESENTATION: We present a case of a 45-year-old man with MS to supplement the clinical manifestations and explore the molecular mechanism of MS. The patient underwent amputation surgery to inhibit tumor development and was diagnosed with MS with 1-2 grade giant chondrosarcoma in the left ankle. In addition, the whole exon analysis results revealed isocitrate dehydrogenase 1 (IDH1) R132C mutation in chondrosarcoma lesions but not in blood DNA. CONCLUSIONS: This case report showed MS complicated by giant chondrosarcoma in the left ankle with an IDH1 R132C mutation, which is appropriate to monitor the development of MS pathology and other concomitant lesions.

The Retrograde Left Atrial Tumour Embolism In Thepatient With Metastatic Extremity Chondrosarcoma.

A 34 years old male, labourer by occupation was brought to our trauma centre in an inebriated state with a history of fall from a height of approximately 10 feet. He complained of pain in the right elbow. A complete examination of the affected upper limb revealed an ipsilateral anterior shoulder dislocation and a posterior elbow dislocation with no other concomitant injuries. Both the dislocations were reduced conservatively and the patient was successfully managed. The patient is absolutely fine now, 6 months post his dislocation and has resumed back to his work. This case has been presented to highlight the rare and unusual nature of the injury, since ipsilateral dislocation of shoulder and elbow occur infrequently.

Anti-Hu-mediated paraneoplastic chronic intestinal pseudo-obstruction associated with extraskeletal myxoid chondrosarcoma.

Chronic intestinal pseudo-obstruction (CIPO) is characterized by symptoms and signs of bowel obstruction in the absence of an anatomical cause. Almost 50 % of cases are secondary to systemic diseases of neurological, paraneoplastic, autoimmune, metabolic, or infectious origin.

Chondrosarcoma Arising in Synovial Chondromatosis of the Hip: A Case Report.

CASE: Synovial chondromatosis (SC) is a rare condition involving the proliferation of cartilage within the synovial membrane secondary to subsynovial connective tissue metaplasia. Malignant transformation to chondrosarcoma is rare. We cite a case of SC of the hip refractory to arthroscopic debridement, found to have secondary chondrosarcoma on aborted total hip arthroplasty, in which curative treatment was ultimately obtained with external hemipelvectomy. CONCLUSION: SC has the potential to undergo malignant transformation to chondrosarcoma. The consequences of not recognizing such transformation can significantly impact patient outcomes and limit options for local control surgery and limb salvage.

Skull base chondrosarcoma presenting with parenchymal hemorrhage: A case report.

Chondrosarcoma (CS) is a locally invasive, slow growing malignant neoplasm. Intracranial chondrosarcoma are extradural osseous lesions and intradural location with intratumoral hemorrhage is very rare. We report a rare case of 65-year-old male presenting with a small mass in left posterior skull base and later, suddenly deteriorating due to large cerebellar hemorrhage. A brief review of literature of such cases is also presented.

Cavernous sinus thrombosis: a late complication of head and neck surgery.

Cavernous sinus thrombosis is a rare but fatal condition arising due to various infectious and noninfectious causes. Although its incidence is very low in the setting of head and neck surgery, including radical neck dissection, a high index of suspicion with prompt treatment is the key to a successful outcome. We report a case of a 50-year-old woman with a chondrosarcoma of left lower alveolobuccal complex who underwent en bloc tumour resection with infratemporal fossa clearance and left modified radical neck dissection. Subsequently, she developed cavernous sinus thrombosis, which was successfully managed with a multidisciplinary approach. This case highlights the importance of high clinical suspicion in the postoperative setting to diagnose this potentially lethal complication.

Functional optimisation in chondrosarcoma of the subglottis: a novel surgical approach.

Chondrosarcoma of the larynx is rare accounting for approximately 1% of laryngeal cancers; clear cell subtype is a rare variant. Given the low risk of occult nodal disease, they present a unique opportunity to maximise tissue preservation in order to optimise both recovery and long-term functional outcomes. We present a case of laryngeal clear cell chondrosarcoma causing critical airway obstruction. An emergency tracheostomy was performed and mapping biopsies were taken. The tumour originated from the cricoid and extended into both arytenoid superstructures precluding cricotracheal resection. A modified narrow-field laryngectomy was performed, preserving all pharyngeal mucosa and neurovascularly intact infrahyoids. Organ preservation surgery is preferred in the management of laryngeal chondrosarcoma. If laryngectomy is required, the surgeon must ensure that all uninvolved, functional tissue is preserved carefully to improve swallow and voice outcomes postoperatively. We describe a novel technique used to achieve this outcome.

Optimal Management With Radical Resection of Obstructive Primary Chondrosarcoma of the Trachea.

We report 2 cases of chondrosarcoma of the trachea. This etiology of tracheal tumors is exceptional, and only a few cases have been reported so far. The optimal management for these 2 cases was challenging. First an interventional bronchoscopy was required for biopsy and to prevent airway obstruction. Second a radical en bloc resection with free margins was performed through a sternotomy in the first case and by a cervicotomy in the second case. Fifty and 6 months after surgery the 2 patients are alive with no local or distant recurrence.

Sinonasal Chondrosarcoma Presenting With Isolated Severe Vision Loss.

ABSTRACT: A 24-year-old man presented with a 2-month history of progressive, painless vision loss in the right eye, with no history of headache, nasal congestion, rhinorrhea, or epistaxis. His visual acuity was counting fingers at 1 ft in the right eye and 20 of 20 in the left eye with a right relative afferent pupillary defect and mild temporal optic disc pallor. MRI of the brain and orbits showed a mass involving bilateral ethmoid and sphenoid sinuses and right nasal cavity. He underwent urgent extended endoscopic endonasal transsphenoidal approach for resection of the sinonasal skull base tumor and photon radiation therapy. Pathology revealed a well-differentiated cartilaginous neoplasm with focal areas of entrapped native bone, consistent with a chondrosarcoma WHO grade I/III. At 6-month follow-up after surgery, he had a visual acuity of 20/40 in the right eye and 20/20 in the left eye. Malignant tumors from the sinonasal area should be kept in the differential diagnosis for compressive optic neuropathies and may present with vision loss even in the absence of nasal or sinus symptoms.

Cervical Spine Chondrosarcoma in an Adult with a History of Wilms Tumor.

INTRODUCTION: We report the first case of cervical spine chondrosarcoma in a Wilms tumor survivor. CASE DESCRIPTION: A 52-year-old female patient presented with myelopathic symptoms including poor balance, difficulty walking, and numbness of both feet. A magnetic resonance imaging of the spine showed a mass at the right C7-T1 foramen causing significant cord compression. The patient's symptoms improved after posterior decompression and fusion with excision of the tumor. CONCLUSION: Through our experience with this case, we would like to suggest a possible unknown genetic syndrome predisposing patients with Wilms tumor to chondrosarcoma as secondary neoplasms. We would also like to re-emphasize the need for vigilance when assessing patients with a history of Wilms tumor.

Incidence and survival rates and trends of skull Base chondrosarcoma: A Population-Based study.

INTRODUCTION: Chondrosarcomas are extremely rare, locally invasive, and potentially mortal malignant cartilaginous tumors. In this study, we aimed to evaluate the incidence and survival rates and trends of skull base chondrosarcomas (SBC). METHODS: Data from SBC patients between 1975 and 2017 were extracted from the Surveillance, Epidemiology, and End Results (SEER) database. The age-adjusted incidence rates (AAR) were calculated for the overall cases and based on gender, age, race, and histology. Furthermore, the relative survival rates for one, three, and five years, and the rates stratified to the aforementioned selected variables were computed. Besides, we conducted a joint point regression analysis to calculate the annual percent change (APC) and its associated standard error (SE) for AAR and mortality. RESULTS: The AAR rate of SBC was 0.019 per 100,000. Higher AAR rates were observed in patients who were in the 65-74-year-age-group, females, Caucasians, and had none mesenchymal subtype. The relative one-year, three-year and five-year-survival rates were 99.58 %, 93.67 %, and 89.10 %, respectively. Lower survival rates were noted in patients who were males, African Americans, and had a mesenchymal subtype. The trend analysis has shown a significant yearly increase (P < 0.001) in AAR of SBC (APC ±â€¯SE = 0.0005 %±0.0001), along with a significant yearly decline in mortality rates (APC ±â€¯SE= -0.0202 %±0.0029). CONCLUSION: Despite the increase in AAR over time, there has been a significant decline in mortality rates over time, which might have been due to the advancement of treatment modalities, improvement in diagnostic imaging, and modification in disease grading.

Lichen planus related to transforming growth factor beta inhibitor in a patient with metastatic chondrosarcoma: a case report.

Transforming growth factor-beta1 (TGF-ß1) is expressed in normal epidermis. TGF-ß1 potently inhibits keratinocyte proliferation and immunomodulatory properties, mainly by suppressing immune responses to self-antigens. Lichen planus (LP) is a form of dermatitis caused by cell-mediated immune dysfunction, but the exact pathogenic pathways are unknown, which poses therapeutic challenges. We report on a 68-year-old man who developed multiple pruritic, discrete, and well-demarcated, flat-topped red-purple papules and macules on the back and upper arms following 4 cycles of treatment with TGF-ß receptor I (TGFBR-I) inhibitor, ly3200882, for metastatic chondrosarcoma. The biopsy showed hyperkeratosis, wedge-shaped hypergranulosis, elongation of the rete ridges, and a dense band-like lymphohistiocytic infiltrate admixed with colloid bodies and pigment incontinence, consistent with LP. Temporal correlation suggested that the TGFBR-I inhibitor might be a trigger. Treatment with topical clobetasol and oral metronidazole led to partial resolution of the lesions with postinflammatory hyperpigmentation. We believe this is the first reported case of LP related to TGFBR-I inhibitor therapy. This report expands the list of cutaneous adverse events associated with this novel class of targeted therapy. More importantly, this report supports emerging evidence that failure of TGF-ß1 activation/signal transduction is an important mechanism in the pathogenesis of LP and suggests the TGF-ß1 pathway as a potential therapeutic target in this disease.

Carcinosarcoma (adenocarcinoma, neuroendocrine carcinoma, undifferentiated carcinoma and chondrosarcoma) of the gallbladder.

We present an extremely rare case of carcinosarcoma with 4 different tumor components in an 88-year-old female. After a diagnosis of acute cholecystitis, we performed percutaneous transhepatic gallbladder drainage in the patient without success, followed by a cholecystectomy and choledocholithotomy. The mass was a 60 × 25 mm polypoid lesion of the gallbladder identified histologically as a carcinosarcoma with adenocarcinoma, neuroendocrine carcinoma, undifferentiated carcinoma and chondrosarcoma components. The biliary-type adenocarcinoma portion exhibited acinar growth patterns with columnar cells having large and markedly hyperchromatic nuclei. These tumor cells were immunohistochemically positive for MUC1 and CDX2. The neuroendocrine carcinoma, small cell type, cells were densely packed and small, with scant cytoplasm, finely granular nuclear chromatin and absence of nucleoli. The mitotic index was high. These tumor cells were immunohistochemically positive for synaptophysin, Ki-67 (index 40%), MUC1, CDX2 and c-Kit. The undifferentiated carcinoma consisted exclusively of spindle cells containing large, markedly hyperchromatic nuclei with a high mitotic index. These tumor cells were immunohistochemically positive for AE1/AE3. The chondrosarcoma was composed of blue-gray chondroid matrix and atypical chondrocytes containing large, hyperchromatic nuclei. These tumor cells were immunohistochemically positive for S100. Its attributes might be suggestive of a greater malignant potential and pathogenesis of carcinosarcoma.

Doble primario sincrónico: condrosarcoma y sarcoma fusocelular de alto grado asociado a síndrome de Maffucci / Synchronous primary double: condrosarcoma and sarcoma high grade fusocelular associated with Maffucci syndrome

Resumen: El síndrome de Maffucci se caracteriza por la presencia de múltiples encondromas y hemangiomas que pueden afectar tejidos blandos y otros órganos. El riesgo de transformación maligna de las lesiones es de 100% durante la vida del individuo, siendo el condrosarcoma el tumor maligno más frecuentemente asociado. Se presenta el caso de un hombre de 44 años de edad con diagnóstico de síndrome de Maffucci, el cual desarrolló un doble primario sincrónico: condrosarcoma y sarcoma fusocelular de alto grado multicéntrico de región escapular y tricipital, fue tratado con desarticulación interescapulotorácica, mostró progresión acelerada y enfermedad pulmonar. Existen otras neoplasias asociadas al síndrome de Maffucci tales como adenocarcinoma de páncreas, tumores mesenquimales de ovario, gliomas, astrocitomas y tumores de la pituitaria. Por lo que resulta muy interesante reportar la asociación infrecuente entre un sarcoma fusocelular y un condrosarcoma secundario en pacientes con síndrome de Maffucci. El seguimiento en este grupo de pacientes es complejo y se basa en la búsqueda intencionada de lesiones con crecimiento acelerado, prestando atención en lesiones de crecimiento progresivo, síntomas clínicos o datos radiológicos de malignidad.

Abstract: Maffucci syndrome is characterized by the presence of multiple enchondromes and hemangiomas that can affect soft tissues and other organs. The risk of malignant transformation of lesions is 100% during the life of the individual, with chondrosarcoma being the most frequently associated malignant tumor. We present the case of a 44-year-old man diagnosed with Maffucci syndrome who developed a synchronous double primary: chondrosarcoma and high-grade multicenter fusocellular sarcoma of scapular and tricipital region, was treated with disarticulation interscapule-thoracic, presented accelerated progression and lung disease. There are other neoplasms associated with Maffucci syndrome, such as pancreatic adenocarcinoma, mesenchymal ovarian tumors, gliomas, astrocytomas and pituitary tumors. It is therefore very interesting to report the uncommon association between fusocellular sarcoma and secondary chondrosarcoma in patients with Maffucci syndrome. Follow-up in this group of patients is complex and is based on the intentional search for accelerated growing lesions, paying attention to progressive growth injuries, clinical symptoms or radiological malignancy data.

Skull Base Enchondroma and Chondrosarcoma in Ollier Disease and Maffucci Syndrome.

BACKGROUND: Maffucci syndrome (MS) and Ollier disease (OD) are rare diseases characterized by multiple benign enchondromas. The incidence of skull base (SB) enchondromas and the risk of malignant transformation remain unknown. Most SB lesions are asymptomatic, and surgical resection carries significant morbidity. Observation may be a reasonable strategy. We report our experience with observation of probable SB enchondromas in MS/OD patients. METHODS: Retrospective review of OD/MS patients with cranial imaging between 1995 and 2018 at 1 institution. RESULTS: 14 patients were included: 3 with MS (21.4%) and 11 with OD (78.6%). The median age was 28 years (range, 11-74 years) and 57.1% were female. Extracranial chondrosarcoma was reported in 3 (21.4%) patients. Seven (50%) patients with SB enchondroma or chondrosarcoma were identified on initial imaging. In patients with SB lesions, the indications for imaging were headache (n=3), seizure (n=1), and diplopia (n=1); 2 cases were incidental findings. The most commonly involved structures were petroclival fissure (86%) and clivus (71%). Treatment included observation (6/7) and resection (1/7). Follow-up imaging was available for all SB lesions, with a mean interval of 50.7 months (range, 5-225 months) and was negative for progression in all patients. CONCLUSIONS: Primary SB lesions in OD/MS patients frequently present in the petroclival junction. Cranial screening and close observation should be considered in MS/OD patients, given the increased risk of intra-axial intracranial tumors, de novo chondrosarcomas, or malignant degeneration of previously known lesions. In asymptomatic patients, observation appears to be a safe strategy in this cohort. Further case accumulation and follow-up are required to better understand the long-term outcomes.