Low-grade fibromyxoid sarcoma incidentally discovered as an asymptomatic mediastinal mass: a case report and review of the literature

Abstract Background Low-grade fibromyxoid sarcoma (LGFMS) is a rare tumor characterized by bland histological features and aggressive clinical course. The most common anatomic locations of occurrence are the lower extremities, thorax, inguinal area, and upper limbs. Primary mediastinal sarcomas are even rarer. To the best of our knowledge, only seven cases of primary mediastinal LGFMS have been reported in the literature. Here, we report a case of primary mediastinal LGFMS. Case presentation A 26-year-old Pakistani man presented with fever and vomiting for the past 2 months. On a routine chest x-ray, a mediastinal mass was incidentally found. Computed tomography (CT) scan showed a large circumscribed lobulated soft tissue density mass lesion in an anterior mediastinum. Grossly, the resected mass measured 17.0 × 12.0 × 11.0 cm. The cut surface was gray white with a whorled-like appearance and foci of calcification and cystic changes. Histologically, a spindle cell lesion was seen with alternating myxoid and hyalinized areas. The shaped cells were arranged in bundles. Immunohistochemical staining showed positive reactivity patterns with MUC4 and focally for epithelial membrane antigen (EMA). The diagnosis was confirmed as LGFMS. The patient is free of symptoms and recurrence 22 months after the surgery. Conclusion In conclusion, we report a rare case of primary mediastinal LGFMS in a young male patient that was discovered incidentally. Our patient is on regular follow-up to look for evidence of recurrence as these tumors are prone to recurrences.

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Vitamin K Deficiency Presenting in an Infant with an Anterior Mediastinal Mass: A Case Report and Review of the Literature

Case Reports in Pediatrics ◽

10.1155/2017/7628946 ◽

2017 ◽

Vol 2017 ◽

pp. 1-5 ◽

Cited By ~ 1

Author(s):

Mauricio A. Palau ◽

Amanda Winters ◽

Xiayuan Liang ◽

Rachelle Nuss ◽

Susan Niermeyer ◽

...

Keyword(s):

Vitamin K ◽

Mediastinal Mass ◽

Anterior Mediastinum ◽

Medical Attention ◽

Anterior Mediastinal Mass ◽

Vitamin K Deficiency ◽

K Deficiency ◽

Chest X Ray ◽

Work Up

We report a case of a 1-month-old infant with spontaneous thymic hemorrhage secondary to severe vitamin K deficiency. He was brought to medical attention due to scrotal bruising and during evaluation was noted to be tachypneic and hypoxemic. Chest X-ray revealed an enlarged cardiothymic silhouette, and a follow-up echocardiogram revealed a mass in the anterior mediastinum. Routine laboratory work-up revealed severe coagulopathy. Further questioning revealed the patient had not received prophylactic vitamin K at birth. The coagulopathy resolved with administration of vitamin K, and a biopsy confirmed the anterior mediastinal mass was due to spontaneous thymic hemorrhage.

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A case report on incidental finding of thymoma as anterior mediastinal mass

International Journal of Basic & Clinical Pharmacology ◽

10.18203/2319-2003.ijbcp20192217 ◽

2019 ◽

Vol 8 (6) ◽

pp. 1441

Author(s):

Nithin K. T. ◽

Vikas Kumar ◽

P. Prasanth

Keyword(s):

Mediastinal Mass ◽

Incidental Finding ◽

Primary Treatment ◽

Anterior Mediastinum ◽

Anterior Mediastinal Mass ◽

Unknown Etiology ◽

Mediastinal Tumors ◽

Mediastinal Widening ◽

Chest X Ray ◽

Heterogeneous Solid

Thymomas are rare tumors in the anterior mediastinum, representing 50% of anterior mediastinal masses and about 20-30% of all mediastinal tumors. They are of unknown etiology; about 50% of patients with thymomas are diagnosed incidentally with chest radiography. Thymoma is classified into different stages, which determine the prognosis and type of management, the standard primary treatment for these tumors is Thymectomy. We present a case of 55-year female presented with shortness of breath, cough with expectoration and fever for past ten days. Chest x-ray revealed mediastinal widening. CECT chest showed a well-circumscribed heterogeneous solid enhancing mass lesion. FNAC was planned that showed features in favour of thymoma. Biopsy was done that confirmed lymphocyte rich type B thymoma.

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Primary Renal Hybrid Low-grade Fibromyxoid Sarcoma-Sclerosing Epithelioid Fibrosarcoma: An Unusual Pediatric Case With EWSR1-CREB3L1 Fusion

Pediatric and Developmental Pathology ◽

10.1177/1093526617754030 ◽

2018 ◽

Vol 21 (6) ◽

pp. 574-579 ◽

Cited By ~ 5

Author(s):

Yingting Mok ◽

Yin Huei Pang ◽

Jain Sudhanshi Sanjeev ◽

Chik Hong Kuick ◽

Kenneth Tou-En Chang

Keyword(s):

Fusion Gene ◽

Genetic Profile ◽

Low Grade ◽

Gene Fusions ◽

Gene Detection ◽

Sclerosing Epithelioid Fibrosarcoma ◽

Fibromyxoid Sarcoma ◽

Exon 11 ◽

Aggressive Clinical Course ◽

Generation Sequencing

Low-grade fibromyxoid sarcoma (LGFMS) and sclerosing epithelioid fibrosarcoma (SEF) are rare tumors with distinct sets of morphological features, both characterized by MUC4 immunoreactivity. Tumors exhibiting features of both entities are considered hybrid LGFMS-SEF lesions. While the majority of LGFMS cases are characterized by FUS-CREB3L2 gene fusions, most cases of pure SEF show EWSR1 gene rearrangements. In the largest study of hybrid LGFMS-SEF tumors to date, all cases exhibited FUS rearrangements, a similar genetic profile to LGFMS. We herein describe the clinicopathological features and genetic findings of a case of primary renal hybrid LGFMS-SEF occurring in a 10-year-old child, with disseminated metastases. Fusion gene detection using a next-generation sequencing-based anchored multiplex PCR technique (Archer FusionPlex Sarcoma Panel) was performed on both the primary renal tumor that showed the morphology of a LGFMS, and a cervical metastasis that showed the morphology of SEF. An EWSR1-CREB3L1 gene fusion occurring between exon 11 of EWSR1 and exon 6 of CREB3L1 was present in both the LGFMS and SEF components. This unusual case provides evidence that a subset of hybrid LGFMS-SEF harbor EWSR1-CREB3L1 gene fusions. In this case, these features were associated with an aggressive clinical course, with disease-associated mortality occurring within 12 months of diagnosis.

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Incidental ancient schwannoma of the posterior mediastinum in a young male: a rare scenario

BMJ Case Reports ◽

10.1136/bcr-2018-227497 ◽

2019 ◽

Vol 12 (5) ◽

pp. e227497 ◽

Cited By ~ 1

Author(s):

Gouthaman Shanmugasundaram ◽

Periyasamy Thangavel ◽

Balasubramanian Venkataraman ◽

Gunabooshanam Barathi

Keyword(s):

Mediastinal Mass ◽

Young Male ◽

Posterior Mediastinum ◽

Intensity Lesion ◽

Left Posterior ◽

Distinctive Type ◽

Chest X Ray ◽

Spinal Region ◽

Disease Free

Ancient schwannoma is a distinctive type of schwannoma occurring mostly in the retroperitoneum. The presentation in the posterior mediastinum is rare. The term ‘ancient’ represents a group of neurogenic tumours showing degenerative changes with marked nuclear atypia. A 26-year-old man was incidentally detected to have an upper mediastinal mass lesion in the chest X-ray. MRI chest revealed a mixed signal intensity lesion in the left side upper para spinal region of the posterior mediastinum. The patient underwent left posterior thoracotomy and excision of the mass was done. Postoperative period was uneventful. The histopathological feature was typical of Ancient schwannoma. The patient is on regular follow-up and disease free until.

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Infantile Fibromatosis: A Rare Cause of Anterior Mediastinal Mass in a Child

Journal of Clinical Imaging Science ◽

10.4103/2156-7514.159452 ◽

2015 ◽

Vol 5 ◽

pp. 34 ◽

Cited By ~ 1

Author(s):

Venkatraman Bhat ◽

Praveen Raju ◽

Sanjay Rao ◽

Srinivas Ramaiah

Keyword(s):

Surgical Management ◽

Desmoid Tumor ◽

Mediastinal Mass ◽

Anterior Mediastinum ◽

Anterior Mediastinal Mass ◽

Low Grade ◽

Biological Behaviour ◽

Complete Cure ◽

Imaging Appearance ◽

Infantile Fibromatosis

Fibromatosis also known as desmoid tumor is an uncommon cause of a mediastinal mass in patients of all ages. Imaging appearance of fibromatosis is generally nonspecific and demands special attention to subtle details to be correctly identified as a possibility. Management of the patient is often complicated by failure to obtain precise pre-operative diagnosis. Location of a mass in the anterior mediastinum with encasement of vital structures is not favourable for complete cure. Although histologically benign, biological behaviour of the lesion varies between benign fibrous proliferation and low-grade fibrosarcoma. We present imaging appearances, surgical management dilemma, and the histopathological details of a case of fibromatosis in the anterior mediastinum in a child.

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Low-Grade Fibromyxoid Sarcoma

The American Journal of Surgical Pathology ◽

10.1097/00000478-199306000-00007 ◽

1993 ◽

Vol 17 (6) ◽

pp. 595-600 ◽

Cited By ~ 259

Author(s):

Harry L. Evans

Keyword(s):

Low Grade ◽

Fibromyxoid Sarcoma

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Imaging findings of thoracic low-grade fibromyxoid sarcoma: report of three cases

Japanese Journal of Radiology ◽

10.1007/s11604-009-0351-2 ◽

2009 ◽

Vol 27 (9) ◽

pp. 375-380 ◽

Cited By ~ 7

Author(s):

Eriko Maeda ◽

Satoshi Ohta ◽

Takeyuki Watadani ◽

Akiteru Goto ◽

Atsushi Nakajima ◽

...

Keyword(s):

Low Grade ◽

Imaging Findings ◽

Fibromyxoid Sarcoma

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Low-Grade Fibromyxoid Sarcoma: A Brief Review

Archives of Pathology & Laboratory Medicine ◽

10.5858/2006-130-1358-lfsabr ◽

2006 ◽

Vol 130 (9) ◽

pp. 1358-1360 ◽

Cited By ~ 3

Author(s):

Stephen E. Vernon ◽

Pablo A. Bejarano

Keyword(s):

Spindle Cell ◽

Fusion Gene ◽

Cytogenetic Abnormality ◽

Low Grade ◽

Deep Soft Tissue ◽

Balanced Translocation ◽

Linear Arrangement ◽

Myxoid Stroma ◽

Fibromyxoid Sarcoma ◽

The Common

Abstract Low-grade fibromyxoid sarcomas are uncommon deep soft tissue neoplasms first described by Evans in 1987. They exhibit a deceptively benign appearance, with a whorled or linear arrangement of spindle-shaped cells showing few to absent mitoses. A characteristic, but not specific, feature is the presence of areas of myxoid stroma. Recurrences are common, and late metastases have been recorded. A closely related but morphologically distinct tumor, the so-called hyalinizing spindle cell tumor with giant rosettes, has also been described; both neoplasms share the same cytogenetic abnormality, a balanced translocation resulting in a FUS/CREB3L2 fusion gene. Because of similar clinical behavior and the common cytogenetic abnormality, some authors prefer to consider both lesions as a single entity within the spectrum of low-grade sarcomas.

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