Extraskeletal mesenchymal chondrosarcoma of the abdomen: A rare clinical presentation

Extraskeletal mesenchymal chondrosarcoma (EMCS) is a rare malignant soft tissue tumor of chondroprogenitor cell origin. Originally, it was restricted to the bone only but that is no longer the case. Recent literature reports that 20–33% of these tumors occur at the extraskeletal sites. We report one such case, in which the tumor involved the anterior abdominal wall muscles and also had a large intra-abdominal mass that covered a large part of the peritoneal cavity. The clinical features and computed tomography findings suggested the diagnosis of a malignant desmoid tumor with intra-abdominal extension; however, the histopathological examination and the immunohistochemistry proved the tumor to be EMCS. The case is reported due to the dilemma in diagnosis, its rarity, large size, parietal, and intra-abdominal extension with multiple site involvement.

Primary renal ewing sarcoma in a 15-year-old female: Case report

@#Extraskeletal Ewing sarcoma (EES) is a rare tumor that primarily affects children and lacks specific clinical signs. Diagnosis is confirmed through imaging techniques, histology, and molecular diagnostics. Treatment typically involves surgical intervention and chemotherapy. We present the case of a 15-year-old female with a history of abnormal mass enlargement in the right flank area. An initial diagnosis of Wilms tumor was made, and the patient underwent a right open radical nephrectomy. However, the tumor recurred eight months after nephrectomy, necessitating a metastasectomy. Chemotherapy was started to immediately target the tumor recurrence. Next-generation sequencing done on the open radical nephrectomy and metastasectomy samples revealed the presence of the EWSR1-FLI1 fusion gene in both specimens, confirming the final diagnosis to be primary renal Ewing sarcoma. Despite undergoing a right open radical nephrectomy for the primary tumor site, a metastasectomy during tumor recurrence, and chemotherapy, the patient’s prognosis remained poor.

Soft tissue aneurysmal bone cyst of left hemithorax: An extremely rare case

Aneurysmal bone cyst (ABC) is a benign expansile cystic lesion that can affect any bone of the skeleton, especially the femur, tibia, and humerus. Lesions with histologic features of an ABC can be originated within soft tissue in exceedingly rare cases. Extra-skeletal ABC may mimic a variety of benign and malignant lesions and can be confused with other common or rare giant cell-rich tumors of soft tissue. Clinical, radiological and histologic correlation are crucial in reaching the correct diagnosis. Here we report a case of an extra-skeletal ABC arising in left hemithorax in a 13-year-old girl and discuss the common differential diagnosis of this rare entity.

The diagnostic potential of friend leukemia integration-1 and NKX2.2 in children with extraskeletal Ewing′s sarcoma / 中华实用儿科临床杂志

Objective:To investigate the value of friend leukemia integration-1 (FLI1) and NKX2.2 in the diagnosis of pediatric extraskeletal Ewing′s sarcoma (E-EWS), and the differential diagnosis of other pediatric small round cell tumors.Methods:Clinical data of children with E-EWS and other small round cell tumors diagnosed in the Department of Pathology of Xi′an Children′s Hospital and Xijing Hospital, Air Forth Medical University from January 2014 to December 2020 were retrospectively analyzed.Expression levels of FLI1 and NKX2.2 were examined by immunohistochemical staining.Results:(1)A total of 27 cases of E-EWS and 145 cases of other small round cell tumors were included, including 40 cases of poorly differentiated and undifferentiated neuroblastoma, 34 cases of rhabdomyosarcoma, 30 cases of metanephric Wilms tumor, 25 cases of lymphoma, 10 cases of malignant rhabdomyosarcoma, 2 cases of myeloid sarcoma, 1 case of desmoplastic small round cell tumor, 1 case of BCOR-rearranged sarcoma, 1 case of CIC-rearranged sarcoma and 1 case of melanotic neuroectodermal tumor of infancy.(2)The sensitivity, specificity, positive and negative predictive value of FLI1 in E-EWS were 88.9%(24/27 cases), 5.5%(8/145 cases), 14.9%(24/161 cases) and 72.8% (8/11 cases), respectively, and those of NKX2.2 in E-EWS were 92.6%(25/27 cases), 97.9%(142/145 cases), 89.3% (25/28 cases) and 98.6%(142/144 cases), respectively.The sensitivity, specificity, positive and negative predictive value of combined FLI1 and NKX2.2 were 85.2%, 97.9%, 88.5%, and 97.3%, respectively.Conclusions:NKX2.2 is sensitive and specific for the differential diagnosis of E-EWS from other pediatric small round cell tumors, showing a high diagnostic utility.FLI1 has high sensitivity but poor specificity for diagnosing E-EWS.The combination of detecting FLI1, NKX2.2 and other antibodies and genetic analysis is recommended to prevent misdiagnosis.

Extraskeletal Ewing sarcoma of thyroid gland: A case report / 中南大学学报(医学版)

Extraskeletal Ewing sarcoma is a rare event, and extraskeletal Ewing sarcoma of the thyroid gland is even rarer. It has non-specific clinical manifestation and difficulty in early diagnosis. The diagnosis mainly depends on histology and immunohistochemistry. It possesses the features of high malignancy, high rate of local recurrence, and distant metastasis. Currently, the aggressive multimodal treatment contains surgery, chemotherapy, and radiotherapy. This study presented a case of extraskeletal Ewing sarcoma arising in the thyroid gland of a 30-year-old woman, who presented with supraclavicular mass and sense of dysphagia obstruction in Department of Otolaryngology, Head and Neck Surgery, Second Xiangya Hospital, Central South University in 2018. Imaging studies demonstrated a cystic-solid mass in inferior of the left leaf of thyroid gland and in the posterior of the trachea and esophagus. The patient underwent localized tumor resection. The pathological diagnosis revealed that it was a small round cell tumor, and the immunohistochemistry results were considered to be extraskeletal Ewing sarcoma. Subsequently, the patient was given chemotherapy and local radiation therapy. There was no evidence of tumor recurrence or metastasis.

A rare case of vulvar extraskeletal myxoid chondrosarcoma: mimics and diagnostic clues

Only 14 cases of extraskeletal myxoid chondrosarcoma (EMC) of the vulva have been documented in the literature. We report a case of a 63-year-old woman with EMC of the vulva confirmed by both EWSR1 and NR4A3 fluorescence in situ hybridization, the latter of which is a more specific probe for this entity. The unusual location of this tumor of prominent myxoid morphology gave rise to a wide differential diagnosis, which necessitated thorough histologic evaluation and confirmatory ancillary testing in the form of immunohistochemistry and cytogenetic studies. This article aims to review extraskeletal myxoid chondrosarcoma of the vulva and various diagnostic clues to help differentiate it from its histologic mimics. This is the fifth case of vulvar EMC in the literature with confirmation of a NR4A3 gene rearrangement.

Vitamina D, más allá de la homeostasis cálcica / Vitamin D beyond Calcium Homeostasis

RESUMEN Introducción: La vitamina D, considerada más que una vitamina, una prohormona, se le atribuye múltiples e importantes funciones que van más allá de la homeostasis cálcica. El creciente interés por la vitamina D está relacionado con el descubrimiento de sus receptores y de la expresión de la enzima 1α-hidroxilasa en diferentes tejidos del organismo. Esto ha generado la descripción de un gran número de efectos de la vitamina D en diferentes tejidos y en diversos procesos fisiológicos como: actividad antitumoral, reparación del ácido desoxirribonucleico (DNA), control de la apoptosis, estrés oxidativo, inmunomodulación, adhesión celular y metabolismo y otras funciones aún por esclarecer, y aunque los estudios no son concluyentes, los mismos proponen una relación entre niveles bajos de la vitamina y algunas enfermedades crónicas, autoinmunes y oncológicas. Objetivo: El propósito del presente artículo es describir las funciones extraesqueléticas de la vitamina D y su relación con algunas enfermedades a partir de información actualizada. Método: Se utilizó como buscador de información científica el Google Académico. Se revisaron 101 artículos provenientes de diferentes bases de datos: PubMed, SciELO y páginas web en general; de los cuales fueron referenciados 74 documentos. Conclusiones: Existe evidencia del efecto extraóseo de la hormona vitamina D, así como de la influencia biológica desfavorable de sus bajos niveles, sin embargo, no existe consenso relativo al efecto beneficioso de la suplementación con esta hormona(AU)

ABSTRACT Introduction: Vitamin D, considered, more than a vitamin, a prohormone, is attributed multiple and important functions beyond calcium homeostasis. The growing interest in vitamin D is related to the discovery of its receptors and the expression of the 1α-hydroxylase enzyme in different body tissues. This has generated the description of a large number of effects of vitamin D in different tissues and it involvement in various physiological processes such as antitumor activity, DNA repair, control of apoptosis, oxidative stress, immunomodulation, cell adhesion, and metabolism, as well as other functions still to be clarified; and, although studies are not conclusive, they suggest a relationship between low levels in the vitamin and some chronic, autoimmune and oncological diseases. Objective: The purpose of this article was to describe, based on updated information, the extraskeletal functions of vitamin D and its relationship with some diseases. Methods: Google Scholar was the search engine used to retrieve scientific information. We reviewed 101 articles from different databases, such as PubMed, SciElo, and web pages in general. Out of this number, 74 were chosen as referents. Conclusions: There is evidence about the extra-bone effect of the hormone known as vitamin D, as well as about the unfavorable biological influence of its low levels; however, there is no consensus regarding the beneficial effect of supplementation with this hormone(AU)

Vitamin D: role of vitamin D in human health beyond skeleton

Deficiency of vitamin D is now considered as epidemic in Indian subcontinent, with a prevalence of 70-94% in the general population. Like in US, Indian dairy products are rarely fortified with vitamin D. Socioreligious and cultural practices followed in India do not facilitate adequate sun exposure, thereby negating potential benefits of plentiful sunshine resulting in vitamin D deficiency. Deficiency is highly prevalent in both urban and rural settings. Vitamin D deficiency can lead to rickets, osteoporosis, cardiovascular diseases, diabetes, cancer and infections. In present review authors have revisited the details pertaining to vitamin D to increase the awareness on Vitamin D efficiency.

Seasonal Variation in Serum 25-hydroxy Vitamin D and its Association with Clinical Morbidity in Healthy Infants from Northern India

Objective: To evaluate the seasonal change in serum 25-hydroxyvitamin D (25-OHD) level inhealthy infants and to relate it to common childhood morbidities. Methods: 72 healthybreastfed infants residing in Delhi were enrolled at the end of summer and followed till the endof winter [mean (SD) duration 200 (10) d]. Serum 25-OHD was estimated at baseline andfollow-up. Infants were monitored for common childhood diseases. Results: Mean (SD)serum 25-OHD level was lower at the end of winter (20.7 (8.02) ng/mL) than summer (22.9(8.70) ng/mL) [mean difference (95% CI) –2.14 ng/mL (–3.36, –1.06), P<0.001). Theseasonal distribution of children according to vitamin D status in summer and winter -Deficient(15.3%, 12.5%), Insufficient (19.4%, 30.6%) and Sufficient(65.3%, 56.9%),respectively was comparable P=0.17). The morbidity profile remained unaffected by changein vitamin D status from summer to winter. Conclusions: Seasonal changes in vitamin Dlevels do not have significant clinical effect or effect on overall vitamin D status in apparentlyhealthy infants from North India. This may have implications for results of population surveysfor vitamin D status, irrespective of the season when they are conducted.

Metachronous nasopharyngeal carcinoma masquerading as a base of skull metastasis in a case of primary extraskeletal vulvar Ewing’s sarcoma

Ewing’s sarcoma (ES) and primitive neuroectodermal tumor (PNET) resemble each other and commonly affect the skeletal system. Extraskeletal ES/PNET is a rare neoplasm. Here, we report a case of primary vulvar ES in an 18-year-old adolescent girl confirmed by histopathology and immunohistochemistry, who underwent surgery followed by adjuvant chemotherapy. Following 1 year of chemotherapy, she presented with multiple cranial nerve palsies (VI, IX, X, and XII). Contrast tomography of the base of the skull and nasopharynx showed a heterogeneous mass lesion involving the base of skull, sphenoid sinus, and left nasopharynx. Biopsy from the left nasopharyngeal mass revealed it to be well-differentiated squamous cell carcinoma, which was initially thought of metastasis to the base of the skull. In spite of its aggressive nature, a patient of primary sarcoma presenting with a second lesion should be adequately investigated before considering it as a metastatic lesion.

Extraskeletal osteosarcoma of the orbit: A clinicopathologic case report and review of literature.

Primary extraskeletal osteosarcoma (EOS) is an extremely rare malignancy. In this report, the clinical course of a 32-yearold man presenting with proptoses is described. Medical history included Hirschsprung disease (HD), horseshoe kidney, azoospermia, and vertebral anomalies. Imaging of the orbit showed an oval, well-defined heterogeneous mass adjacent to the lateral wall of the orbit. The patient underwent a lateral orbitotomy and complete excision of the mass. The mass was not attached to the bone. Histopathologic and immunohistochemical examination confirmed the diagnosis of an EOS. The patient received chemotherapy and radiotherapy and is free of the disease 3 years after the diagnosis. Genetic screening showed no mutations for both the RET protooncogene for HD and the p53 tumor suppressor gene for osteosarcoma.

Diagnosis and treatment of soft tissue osteosarcoma: A report of 10 cases and literature review / 肿瘤

Objective: To explore the clinical manifestations, treatment methods, therapeutic efficacy and outcomes of soft tissue osteosarcoma. Methods: The clinical records and follow-up information of 10 patients with soft tissue osteosarcoma admitted in Department of Orthopedics, The Second Affiliated Hospital of Zhejiang University School of Medicine from January 2002 to December 2014 were retrospectively analyzed. Results: Of 10 patients with soft tissue osteosarcoma, six were male, and four were female; 7 patients had tumors located in limbs, and 3 had tumors located in groin, ilium and hip, respectively; 7 tumor lesions were located in superficial layer of deep fascia, and 3 were located in deep layer; concerning tumor size, the tumor diameter was larger than 10 cm in 4 cases , 5-10 cm in 4 cases, and shorter than 5 cm in 2 cases; regarding to pathologic grading, 9 cases were high-grade osteosarcoma, and 1 case was low to medium grade. All patients underwent tumor resection, of which, 4 cases received post-operative chemotherapy, and radiotherapy was not utilized. Three cases suffered from local recurrence, in which, 4 cases also had distant metastasis; no metastasis alone was observed. Four cases died of lung metastasis. Conclusion: Soft tissue osteosarcoma is characterized by low morbidity, high malignant grade, high local recurrence rate and distant metastasis rate, as well as high mortality. Extensive resection is the most important therapeutic strategy for soft tissue osteosarcoma, and its outcomes are related to resection extent and tumor size. Chemotherapy is not a validated treatment strategy, and radiotherapy is also seldom utilized in treatment of soft tissue osteosarcoma.

Imaging Features of Primary Tumors and Metastatic Patterns of the Extraskeletal Ewing Sarcoma Family of Tumors in Adults: A 17-Year Experience at a Single Institution

OBJECTIVE: To comprehensively analyze the spectrum of imaging features of the primary tumors and metastatic patterns of the Extraskeletal Ewing sarcoma family of tumors (EES) in adults. MATERIALS AND METHODS: We performed a computerized search of our hospital's data-warehouse from 1996 to 2013 using codes for Ewing sarcoma and primitive neuroectodermal tumors as well as the demographic code for > or = 18 years of age. We selected subjects who were histologically confirmed to have Ewing sarcoma of extraskeletal origin. Imaging features of the primary tumor and metastatic disease were evaluated for lesion location, size, enhancement pattern, necrosis, margin, and invasion of adjacent organs. RESULTS: Among the 70 patients (mean age, 35.8 +/- 15.6 years; range, 18-67 years) included in our study, primary tumors of EES occurred in the soft tissue and extremities (n = 20), abdomen and pelvis (n = 18), thorax (n = 14), paravertebral space (n = 8), head and neck (n = 6), and an unknown primary site (n = 4). Most primary tumors manifested as large and bulky soft-tissue masses (mean size, 9.0 cm; range, 1.3-23.0 cm), frequently invading adjacent organs (45.6%) and showed heterogeneous enhancement (73.7%), a well-defined (66.7%) margin, and partial necrosis/cystic degeneration (81.9%). Notably, 29 patients had metastatic disease detected at their initial diagnosis. The most frequent site of metastasis was lymph nodes (75.9%), followed by bone (31.0%), lung (20.7%), abdominal solid organs (13.8%), peritoneum (13.8%), pleura (6.9%), and brain (3.4%). CONCLUSION: Primary tumors of EES can occur anywhere and mostly manifest as large and bulky, soft-tissue masses. Lymph nodes are the most frequent metastasis sites.

Ewing’s Sarcoma of Zygomatic Bone.

Ewing’s sarcoma is an uncommon malignancy usually arising from the skeletal system particularly pelvic bones and long bones of lower extremities and mostly affecting children and young adults. Its occurrence in the maxillofacial region with soft tissue involvement is struck with rarity. It carries a poor prognosis due to its uncontrolled potential for metastatic spread; therefore an early and integrated treatment approach must be adopted to improve patient’s long term survival.

Condrossarcoma mesenquimal extraesquelético em um gato: relato de caso / Extraskeletal mesenchymal chondrosarcoma in a cat: case report

Condrossarcoma mesenquimal extraesquelético (CME) é um neoplasma maligno e raro em animais domésticos. Descreve-se um caso de CME em uma gata que apresentava uma massa firme, branco-amarelada, medindo 18cm de diâmetro, aderida à musculatura do membro pélvico esquerdo. O exame citológico revelou presença de células fusiformes individualizadas pleomórficas e agregados de pequenas células ovais, sem bordas definidas em meio à matriz intercelular amorfa. Devido à impossibilidade de tratamento e ao prognóstico desfavorável, foi realizada eutanásia. Microscopicamente foram observadas células fusiformes indiferenciadas e agregados de células condroides pleomórficas. O diagnóstico de CME foi confirmado pelas técnicas de azul alciano, tricrômico de Masson e pela prova imunoistoquímica, utilizando-se anticorpos antivimentina...

Extraskeletal mesenchymal chondrosarcoma (EMC) is a rare malignant tumor in domestic animals. We described a case of EMC in a cat with a mass measuring 18cm in diameter, yellowish-white and firm attached to the muscles in left hind limb. Cytological examination revealed the presence of individual pleomorphic spindle cells and clusters of small oval cells with no hard edges in the midst of an amorphous intercellular matrix. Due to the impossibility of treatment and poor prognosis, the cat was euthanized. Microscopically undifferentiated spindle cells and clusters of pleomorphic chondroid cells were observed. The CME diagnosis was confirmed with thealcian blue, Masson's trichrome and immunohistochemistry techniques, using antivimentin antibodies...

Extraskeletal myxoid chondrosarcoma:report of 5 cases and review of literatures / 临床与实验病理学杂志

Purpose To explore the clinicopathologic characteristics, pathologic diagnosis and differential diagnosis of extraskeletal myxiod chondrosarcoma. Methods The clinical and pathological features were studied with HE and immunohistochemical staining in 5 cases of extraskeletal myxoid chondrosarcoma, and the related literatures were also reviewed. Results Extraskeletal myxoid chondro-sarcoma was male predominance (4 males: 1 female), and the age ranged from 32 to 62 years with an average of 52 years. Four tumors occurred in thigh and another in chest. Histologically, the neophlasm were composed of round and oval cells. Immunohisto-chemically, the tumor cells were positive for vimentin in five cases, synaptophysin expressed in one case, S-100 showed focal positivity in two cases, but negative for CK, p63, EMA, CD34, SMA in all cases. Molecular genetics detection shows chromosome exchange be-tween number 9 and 22. Conclusion Extraskeletal myxoid chondrosarcoma is a rare tumor which has no special characteristics in clinical and iconography, and its diagnosis mainly depends on the histopathologic features, immunohistochemistry and molecular genet-ics. Extraskeletal myxoid chondrosarcoma grows slowly, but have a high tendency for local recurrence and metastases.

Extraskeletal Osteosarcoma Arising from the Pleura

A 37-year-old woman was referred to our institution for further management of a mass lesion located in the thoracic cavity. The mass had grown by more than 10 cm over the course of a year and was initially considered to be a scar from previous pulmonary tuberculosis at another hospital. The patient had complained of left-sided flank pain for a year and experienced dyspnea for one month. Chest radiography and chest computed tomography revealed an irregular-shaped mass in the left mid to lower pleural cavity. The mass was widely excised through left thoracotomy. Pathologic examination of the biopsy specimen revealed a malignant spindle cell tumor, which consisted of components of osteosarcoma, pleomorphic sarcoma, and leiomyosarcoma. The patient underwent adjuvant chemotherapy and has been doing well without any evidence of recurrence for 14 months.

Extraskeletal myxoid chondrosarcoma：a clinicopathological analysis / 中国癌症杂志

Background and purpose: Extraskeletal myxoid chondrosarcoma (EMC) is a malignancy of uncertain differentiation tumor characterized by a multinodular structure and abundant myxoid matrix. Its preferred sites were the deep soft tissues of the extremities. The aim of this study was to investigate the clinicopathologic characteristics, diagnosis and differential diagnosis of EMC. Methods: Seven cases of EMC were analyzed for clinicopathological and immunohistochemical features with review of the related literature. Results: It occurred predominantly in females (male/female=2︰5). Five cases were located in low extremities and two in upper limb girdles, more commonly near the joint. Grossly, the masses showed as grey, lobular and somewhat transparent with a relatively well-deifned margin. Microscopically, the small ovary or plump spindle-shaped cells arranged in strand and cord patterns and lobular architecture which separated by delicate fibrous networks with an abundant myxoid but hypovascular background. And the tumors were immunoreactive for vimentin, and partly for S-100 and EMA, meanwhile, negative for CK. Conclusion:EMC is a rare soft tissue sarcoma with distinctive histopathological features. It should be distinguished from some mimics especially those tumors with a myxoid stroma or chondroid differentiation, such as chordoma and chondrosarcoma.

Mesenchymal Chondrosarcoma: A Case Report

Mesenchymal chondrosarcoma is a rare disease with poor prognosis. Treatment including wide or radical excision is very important. Radiotherapy and chemotherapy are additional treatment options, but no conclusive results for their efficacy have been shown until date. Imaging modalities can give important clues for diagnosis and management planning. Angioembolization before surgery could be useful as prophylaxis to control intraoperative bleeding, increasing the likelihood of complete resection.

Primary extraskeletal mesenchymal chondrosarcoma of the vulva

Extraskeletal chondrosarcoma is rare, making up only 1% of reported chondrosarcoma. We experienced 3 cases of extraskeletal chondrosarcoma, especially in vulva. They were suspected as lipoma of the vulva. The patients had noticed a small but growing mass on their vulva which had been palpated earlier. The masses were excised with a 2 cm resection margin. The final pathological reports confirmed extraskeletal mesenchymal chondrosarcoma (EMC) of the vulva revealing no microscopic lesions on the resection margins. After 24 months of following from the initial diagnosis, the patients remain without evidence of any recurrent. Management of EMC is not well studied due to the rare and variable nature of the disease. However, the surgery, such as we had, is the mainstay of local treatment with studies showing better survival in patients who undergo wide surgical resection. The establishment of adjuvant systemic pharmacotherapy could be expected in the future.