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The term chondroma refers to a slow-growing benign tumor. When the tumor arises from the medullary cavity, it is referred to as enchondroma, which is a very common bone tumor. However, if it arises from soft tissues, which is extremely rare, it is referred to as soft tissue chondroma or extraskeletal chondroma. Extraskeletal chondromas are uncommon; benign soft tissue tumors that mostly originate from hyaline cartilage are unrelated to the periosteum, tendon, or bone. The most common sites include fingers and toes. The frequent presentation is a slow-growing, firm, painless, and occasionally tender soft tissue mass. Morphologically, it exhibits lobular structures of hyaline cartilage, and hence it becomes difficult to differentiate it from low-grade chondrosarcoma, so the alarming sign of differentiation becomes a must. Recurrence is possible if it is incompletely removed. Complete removal with the capsule is a must to avoid recurrence. Immunohistochemistry remains the cornerstone for a definite diagnosis when S100 protein and vimentin show positivity for tumor cells and the proliferation index (Ki67%) is low. In this study, we present a very uncommon case of a 30-year-old patient with soft tissue chondromatosis of the palmer aspect of the index finger and palm.

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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.

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Ewing sarcoma (ES) is a rare malignancy that typically occurs within the skeletal system but can also develop extraskeletally. Extraskeletal ES typically presents paraspinally, in the limbs, and retroperitoneum. Rarely, it presents as a primary gastric ES. To our knowledge, there are only 13 reports of primary gastric ES, none of which originated in the cardia of the stomach. Increased identification of how extraskeletal ES, specifically primary gastric ES, presents and characterized is crucial for future treatment development and accurate prognosis. We present the case of a 36-year-old man with hematemesis, ultimately found to have primary gastric ES in the cardia.

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Ewing sarcoma (ES) is an uncommon and highly aggressive bone malignancy that predominantly occurs in children and young adults. Extraosseous Ewing sarcoma (EES), an even rarer variant, can present in the soft tissues instead of bone. In this case report, we detail a previously healthy 28-year-old male presenting with an isolated enlarged left inguinal lymph node, subsequently diagnosed as EES. The patient presented with a three-month history of a non-tender, gradually enlarging lump in the left groin. Fine needle aspiration revealed a small round blue cell tumor with a high Ki-67 score, and subsequent excisional biopsy identified a rare genetic fusion mutation. Postoperative positron emission tomography (PET)/computed tomography (CT) scan did not show any fludeoxyglucose F18 (FDG) uptake lesions to suggest residual malignancy. The patient is currently awaiting chemotherapy. Throughout the discussion of this case, we highlight the importance of considering EES in the differential diagnosis of isolated lymph node enlargement, the role of genetic testing in diagnosis, and the treatment modalities offered.

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Four primary extraskeletal osteosarcomas of the pleura are presented. The patients were men between the ages of 63 and 78 years (average: 70.5 years) who presented with symptoms of chest pain, cough, and shortness of breath. Diagnostic imaging showed variably calcified, pleural-based masses and/or diffuse pleural thickening, clinically mimicking mesothelioma. Thoracoscopic surgical material was obtained for histopathological diagnosis. Histological findings showed the presence of a neoplastic spindle cell proliferation composed of fusiform cells with scant cytoplasm, elongated nuclei and inconspicuous nucleoli. Mitotic activity was easily identified. Additionally, all tumors showed extensive osseous differentiation in the form of osteoid matrix production; one tumor demonstrated additional chondrosarcomatous elements and another showed focal myxoid changes. Immunohistochemical analysis revealed that the tumor cells were uniformly negative for a wide variety of antibodies, including keratin AE1/AE3, keratin 5/6, D2-40, EMA, calretinin, WT-1, BerEP4, and HEG1; BAP1 was retained in all cases. In addition, fluorescence in situ hybridization for CDKN2A (p16) was negative for homozygous deletion in all tumors. Clinical follow-up showed that one patient had died 8 months after diagnosis and one had remained alive with short post-diagnostic follow-up. The tumors herein described highlight a challenging issue in the separation of mesothelioma with heterologous elements from true osteosarcomas of pleural origin. We propose that a diagnosis of extraskeletal osteosarcoma of the pleura is rendered for tumors with malignant osseous and/or cartilaginous differentiation in which comprehensive immunohistochemical studies and FISH analysis have failed to provide support for a diagnosis of mesothelioma with heterologous elements.

Asunto(s)

Biomarcadores de Tumor , Inmunohistoquímica , Hibridación Fluorescente in Situ , Osteosarcoma , Neoplasias Pleurales , Humanos , Masculino , Persona de Mediana Edad , Neoplasias Pleurales/patología , Neoplasias Pleurales/genética , Anciano , Biomarcadores de Tumor/análisis , Biomarcadores de Tumor/genética , Osteosarcoma/patología , Osteosarcoma/genética , Osteosarcoma/química , Diagnóstico Diferencial , Resultado Fatal

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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.

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Extraskeletal Ewing sarcoma (EES) is a rare entity, accounting for only 3% of lesions encountered in upper extremity. We present two paediatric patients, who were initially diagnosed with a vascular malformation based on clinical assessment and imaging. Final histopathology revealed Ewing sarcoma of soft tissue origin, confirmed by immunohistochemical analysis. Hand surgeons, who are routinely approached for a myriad of hand pathologies, should be wary and consider EES as a differential when treating such lesions. A multidisciplinary approach with an appropriate treatment algorithm can help in a speedy diagnosis, improving the long-term prognosis of the disease. Level of Evidence: Level V (Therapeutic).

Asunto(s)

Sarcoma de Ewing , Malformaciones Vasculares , Humanos , Sarcoma de Ewing/patología , Sarcoma de Ewing/diagnóstico , Diagnóstico Diferencial , Malformaciones Vasculares/diagnóstico , Malformaciones Vasculares/patología , Masculino , Femenino , Neoplasias de los Tejidos Blandos/patología , Neoplasias de los Tejidos Blandos/diagnóstico , Niño

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BACKGROUND: Extraskeletal osteosarcoma is an extremely rare malignancy that accounts for 1% of soft tissue sarcoma and 4.3% of all osteosarcoma. Extraskeletal osteosarcoma can develop in a patient between the ages of 48 and 60 years. The incidence of extraskeletal osteosarcoma is slightly higher in male patients than in females. CASE PRESENTATION: A 50-year-old Caucasian male patient presented with a 6-month history of intermittent lower-left back pain that limits his activity. Prior ultrasonography and abdominal computed tomography scan showed a diagnosis of kidney stone and tumor in the lower-left abdomen. The computed tomography urography with contrast revealed a mass suspected as a left retroperitoneal malignant tumor. Hence, the tumor was resected through laparotomy and the patient continued with histopathological and immunohistochemistry examination with the result of extraskeletal osteosarcoma. CONCLUSION: Extraskeletal osteosarcoma presents diagnostic challenges requiring multimodal examination, including histological and immunohistochemistry analyses. This case underscores the aggressive nature and poor prognosis despite undergoing the current suggested treatment.

Asunto(s)

Osteosarcoma , Tomografía Computarizada por Rayos X , Humanos , Masculino , Persona de Mediana Edad , Osteosarcoma/patología , Osteosarcoma/diagnóstico , Osteosarcoma/diagnóstico por imagen , Neoplasias Renales/patología , Neoplasias Renales/diagnóstico por imagen , Neoplasias Renales/cirugía , Neoplasias Renales/diagnóstico , Neoplasias Pancreáticas/patología , Neoplasias Pancreáticas/diagnóstico , Neoplasias Pancreáticas/diagnóstico por imagen , Neoplasias Pancreáticas/cirugía , Neoplasias Gástricas/patología , Neoplasias Gástricas/diagnóstico , Neoplasias Gástricas/diagnóstico por imagen , Neoplasias Gástricas/cirugía , Neoplasias del Bazo/patología , Neoplasias del Bazo/cirugía , Neoplasias del Bazo/diagnóstico , Neoplasias del Bazo/diagnóstico por imagen , Neoplasias Retroperitoneales/patología , Neoplasias Retroperitoneales/diagnóstico por imagen , Neoplasias Retroperitoneales/diagnóstico , Neoplasias Retroperitoneales/cirugía

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Ewing sarcoma of the larynx is extremely rare, only a few number of cases have been reported. In this report, we describe a case of extraskeletal Ewing sarcoma of the larynx with thyroid cartilage destruction. Laryngoscope, 2024.

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OBJECTIVE: To investigate the extent of extraskeletal manifestations along with inpatient outcomes and complications associated with osteogenesis imperfecta (OI). STUDY DESIGN: This cross-sectional study utilized the Kids' Inpatient Database as a part of the Healthcare Cost and Utilization Project to investigate inpatient hospital outcomes and management in patients with OI from 1997 through 2016. Data regarding hospital characteristics, cost of treatment, inpatient outcomes, and procedures were collected and analyzed. RESULTS: There were 7291 admissions that listed OI as a diagnosis in the Kids' Inpatient Database from 1997 through 2016. Unexpectedly, more than one-third of all admissions in these children with OI presented with an extraskeletal manifestation. The rate of major complications was 3.85%. The rate of minor complications was 19.4%, most commonly respiratory problems. The mortality rate was 18.2% in the neonatal period and 1.0% in all other admissions. Total charges of hospital stay increased over the years. CONCLUSIONS: We identified a striking prevalence of extraskeletal manifestations in OI along with inpatient outcomes and complications associated with OI, of which respiratory complications were predominant. We observed a significant financial burden for patients with OI and identified additional risks for financial crisis, in addition to disparities in care identified among socioeconomic groups. These data contribute to a more holistic understanding of OI from diagnosis to management.

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The objective of the present case series was to investigate the various computed tomography findings of six dogs diagnosed with extraskeletal osteosarcoma (exOSA) at several locations. Among the tumors evaluated, four were subcutaneous, one was mammary, and one involved the intestinal tract. Intralesional mineralization was observed in all six dogs. Most of the tumors were moderately calcified, exhibited amorphous mineralization, and were heterogeneous on post-contrast imaging. Three of the tumors were peripherally enhanced, and regional lymphadenopathy was identified in two of the dogs, which was presumed to be metastatic. No lymph node calcification was reported. Although the presence of intralesional mineralization is not a pathognomonic finding, it was consistently identified in the present case series. Therefore, exOSA should be considered in the differential diagnosis when mineralization occurs in a mass unrelated to osseous structures.

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The synthesis and absorption of Vitamin D play crucial roles in numerous bodily functions, yet deficiencies persist due to factors like insufficient sunlight exposure and dietary inadequacy. Research underscores the significance of lifestyle elements such as diet, sun exposure, and physical activity in maintaining optimal Vitamin D levels. Strategies aimed at tackling deficiencies emphasize supplementation alongside lifestyle adjustments, especially in regions with abundant sunlight like the Middle East and North Africa (MENA). Despite the abundance of sunshine in the Arab world, there remains a prevalent issue of Vitamin D deficiency. This problem arises from various factors, including cultural practices such as traditional clothing covering most skin areas, which limit sun exposure, and environmental factors like air pollution that reduce UV penetration. Dietary habits and lifestyle choices also contribute to this deficiency. Dealing with the ongoing pandemic requires a focused effort to enhance awareness. While some individuals may recognize common diseases caused by Vitamin D deficiency, such as rickets and osteomalacia, many remain unaware of the broader health risks associated with the condition, including non-skeletal manifestations. Additionally, there is a lack of understanding regarding the numerous hidden benefits of this hormone. Therefore, prioritizing educational initiatives that delve into these aspects is essential to effectively combat the current health crisis. This literature review aims to report both skeletal and extraskeletal consequences of hypovitaminosis and briefly discuss the cause of paradoxical vitamin D deficiency in sunny regions like the MENA. This was done by reviewing pertinent articles published between January 2000 and January 2024, sourced from databases such as PubMed, UpToDate, Scopus, and CINAHL, focusing exclusively on English language literature and using keywords such as "Vitamin D deficiency" and "Extraskeletal manifestations."

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Osteosarcomas occurring in the extraskeletal system are known as extraskeletal osteosarcomas (ESOS). They are rare, highly malignant tumors, associated with poor prognosis Di et al. World J Clin Cases 11(3):662-668 (2023). This is a case report of a gentleman nearing 60s with a liver mass with impending rupture. He underwent resection of the liver mass and was diagnosed to have with ESOS. He underwent a right hepatectomy on an urgent basis. He had an uneventful postoperative recovery. The histopathology report showed a poorly differentiated malignant neoplasm consistent with osteosarcoma. The patient is doing well 75 days after discharge and currently receiving adjuvant chemotherapy with ifosfamide, adriamycin, and cisplatin. We have also done a comprehensive literature review of this rare tumor. It is an elusive disease that is difficult to diagnose radiologically. The treatment includes a combination of surgery and adjuvant treatment.

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INTRODUCTION: Extraskeletal Ewing's Sarcoma is a rare entity of sarcoma that develops rapidly within soft tissue in any anatomic region, and the symptoms depend on its location. CASE PRESENTATION: The X-ray examination of a 28-year-old man with shortness of breath, cough, weight loss, and chest pain showed malignant round cell, in which confirmed by immunohistochemical examination. The examination indicated positive Vimentin findings in the cytoplasm and positive FLI-1 in the nuclei of the tumour cells. The diagnosis was consistent with extraskeletal Ewing's sarcoma. The patient submitted to a chest conference and received radiotherapy related to SVCS before debulking surgery. DISCUSSION: The diagnostic challenges associated with Ewing's sarcoma may arise due to its diverse histological spectrum. Further examination is required in order to distinguish Ewing's sarcoma from other tumours, as its radiological specificity is limited. A multimodal approach for treatment and therapy is necessary to highlight the specific requirements of the patient's condition. CONCLUSION: Imaging modalities including X-rays and thoracic CT scans, supported by histopathological examination and immunohistochemistry, are essential for accurately diagnosing Extraskeletal Ewing's sarcoma. A multimodal approach may be considered as the best treatment for the patient with mediastinal Ewing's sarcoma.

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Primary pleural Ewing sarcoma is a rare type of Ewing sarcoma with only a few case reports identified in the literature. The condition is challenging to diagnose with deceiving symptoms and wide differential diagnosis. Diagnosis is confirmed with a combination of radiological and pathological assessment. Treatment is similar to other types of Ewing sarcoma with chemotherapy and surgery being the mainstay of treatment. We identify an unusual presentation of pleural Ewing sarcoma in a 31-year-old male with a mass extending into the right ventricular outlet causing rapid deterioration of the patient.

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Primary penile extraosseous osteosarcoma (EOS) ranks the most uncommon amongst the differential penile masses, with only nine cases reported so far. In this report, we share the management of a 67-year-old Hispanic male who presented with a painful mass over his distal penile shaft and glans for the last two months. After initial imaging and complete blood investigations, he underwent partial penectomy. Histology revealed high-grade sarcoma, with osteoid production, favoring high-grade extra-skeletal osteosarcoma, with tumor necrosis involving approximately 5% of the tumor volume. The patient had bilateral palpable inguinal lymphadenopathy, which was seen even on a pre-op CT scan. The patient thus underwent bilateral robotic superficial and deep inguinal standard template lymph node dissection three weeks after his partial penectomy. His pathology was negative for malignancy in all examined lymph nodes. At his last follow-up, five months post his primary surgery, he had been doing well without concerns for recurrence.

RESUMEN

Ewing sarcoma (EwS), a malignancy primarily affecting adolescents and young adults, encompasses various types such as bone, extraskeletal, chest wall, and soft tissue-based tumors, all of which share a common genetic origin. A small portion of them are extraosseous, impacting diverse anatomical sites. Characterized by a specific translocation, this rare cancer rarely involves the vagina, with very few documented cases. This report details the unique case of a middle-aged woman diagnosed with extraosseous vaginal EwS, a rarity in this age group and gender. With no established guidelines, a multidisciplinary approach is crucial, emphasizing the need for further case reporting to enhance understanding and management strategies.

RESUMEN

Osteogenesis imperfecta (OI) is a rare heritable connective tissue disorder of skeletal fragility with an incidence of roughly 1:15,000. Approximately 85% of the pathogenic variants responsible for OI are in the type I collagen genes, COL1A1 and COL1A2, with the remaining pathogenic OI variants spanning at least 20 additional genetic loci that often involve type I collagen post-translational modification, folding, and intracellular transport as well as matrix incorporation and mineralization. In addition to being the most abundant collagen in the body, type I collagen is an important structural and extracellular matrix signaling molecule in multiple organ systems and tissues. Thus, OI disease-causing variants result not only in skeletal fragility, decreased bone mineral density (BMD), kyphoscoliosis, and short stature, but can also result in hearing loss, dentinogenesis imperfecta, blue gray sclera, cardiopulmonary abnormalities, and muscle weakness. The extensive genetic and clinical heterogeneity in OI has necessitated the generation of multiple mouse models, the growing awareness of non-skeletal organ and tissue involvement, and OI being more broadly recognized as a type I collagenopathy.This has driven the investigation of mutation-specific skeletal and extra-skeletal manifestations and broadened the search of potential mechanistic therapeutic strategies. The purpose of this review is to outline several of the extra-skeletal manifestations that have recently been characterized through the use of genetically and phenotypically heterogeneous mouse models of osteogenesis imperfecta, demonstrating the significant potential impact of OI disease-causing variants as a collagenopathy (affecting multiple organ systems and tissues), and its implications to overall health.

RESUMEN

Ewing's Sarcoma family of tumors is a group of small round tumor cells. Ewing's sarcoma majority occurs in bone, accounts about 10 % of primary bone tumors. Extraskeletal Ewing's sarcoma (ESS) is unusual and commonly seen in trunk, paravertebral, and chest wall region. It is rarely seen in head and neck region, accounting to 2-3 %. In head and neck region, ESS is seen in nasal or oral cavities, sinuses. EES originating in the larynx is very rare. Here, we report a 22 years old female having the complaints of change in voice and noisy breathing who was diagnosed as a case of EES of supraglottis. As the disease progressed during the time of diagnosis, she had to undergo emergency tracheostomy. The disease was inoperable so she received neoadjuvant chemotherapy followed by radiation followed by adjuvant chemotherapy. At present she is symptomatically better. The aim of this report is to put forward the rare site of Ewing's Sarcoma and highlighting the early diagnosis in suspected case with IHC, providing effective multimodality treatment.

Asunto(s)

Sarcoma de Ewing , Humanos , Sarcoma de Ewing/terapia , Sarcoma de Ewing/diagnóstico , Sarcoma de Ewing/patología , Femenino , Adulto Joven , Neoplasias Laríngeas/terapia , Neoplasias Laríngeas/diagnóstico , Neoplasias Laríngeas/patología

RESUMEN

While Ewing sarcoma is traditionally a malignant tumor of bone, it may uncommonly present extra-skeletally, leading to an array of puzzling presentations depending on the tissue involved. Here, we describe the case of a 66-year-old man who presented to the primary care office for evaluation of intermittent melena. He ultimately underwent capsule endoscopy and developed a secondary small bowel obstruction, unveiling his neoplasm. The tumor was then resected and managed with surveillance only, and the patient remains without evidence of disease after four years of follow-up.