Sarcoma fibromixoide de bajo grado, un diagnóstico diferencial esencial en los tumores mixoides de apariencia benigna

Alfaro-Cervelló, Clara; Casanova, Olga Benavent; Nieto, Gema; Diago, F.J. Mares; Navarro, Samuel

doi:10.1016/j.patol.2017.05.004

Cited by 5 publications

(3 citation statements)

References 12 publications

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“…It needs to be distinguished from spindle cell tumors and tumors with bromyxoid stroma, such as low-grade myxo brosarcoma, neuro broma, protuberant cutaneous brosarcoma, etc. [1,45].The difference between the disease and others. Firstly, The alternating distribution of brous and myxoid areas.…”

Section: Discussionmentioning

confidence: 99%

Novel KMT2B Gene Mutation in MUC4 Positive Low-grade Fibromyxoid Sarcoma

Zhang

Liu

2022

Preprint

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BackgroundLow-grade Fibromyxoid Sarcoma(LGFM)is a rare fibrosarcoma, which mainly occurs in young people and is mostly seen in the trunk and limbs. The tumor is usually FUS-CREB3L2 fusion caused by t(7;16)(q32-34;p11)chromosome translocation, and rarely FUS-CREB3L1and EWSR1-CREB3L1 fusion. MUC4 diffuse strong positive can be used as a specific index of LGFM. LGFM is similar to Sclerosing Epithelioid Fibrosarcoma(SEF)and may have the same origin. Case presentationWe report a case of LGFM in the chest wall. A female which is 59 years old. In 2016, CT showed dense nodule shadow and focal thickening of the left pleura, the patient underwent surgery, Pathological report: low to moderate malignant fibrosarcoma (fibromyxoid type). The CT re-examination in 2021 showed that the tumors on the left chest wall were significantly larger than before. Pathological examination showed the disease is composed of alternating collagen like and mucinous areas. Under high-power microscope, the tumor cells are consistent in shape, spindle or short spindle, and the tumor cells are arranged in bundles. In local areas, the density of tumor cells is significantly increased, mixed with collagen fibers, and small focal sclerosing epithelioid fibrosarcoma(SEF)appear. The result of immunohistochemistry showed that SMA, Desmin, CD34, STAT6, S100, SOX10, HMB45 and Melan A were negative, EMA was weakly positive, MUC4 was diffuse and strongly positive, and Ki67 index was low (3%). ConclusionSequencing results showed that MET, EGFR, KMT2B and RET gene were mutated in LGFM, and KMT2B gene had cancer promoting effect, but there was no literature report in LGFM, which may be of certain significance for the diagnosis and treatment of LGFM.

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Section: Discussionmentioning

confidence: 99%

Novel KMT2B Gene Mutation in MUC4 Positive Low-grade Fibromyxoid Sarcoma

Zhang

Liu

2022

Preprint

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“…El diagnóstico diferencial es amplio e incluye variantes mixoides del neurofibroma, leiomioma, hemangiopericitoma, fibromatosis desmoide, tumor maligno de nervio periférico, liposarcoma de células fusiformes y angiomixoma 1,7 .…”

Section: Discussionunclassified

Sarcoma fibromixoide de bajo grado como contenido de hernia perineal. Reporte de un caso

Auria-Aspiazu¹,

Parrales-Calderón²,

Moncayo-Asnalema³

2021

CIRU

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Antecedentes: El sarcoma fibromixoide de bajo grado es una neoplasia rara de histología someramente benigna, pero con un comportamiento agresivo metastásico tardío. Las hernias perineales son de presentación inusitada y no existen más de 100 casos reportados en la literatura mundial. Discusión: La presentación de esta neoplasia fibroblástica es poco frecuente, y aún más como contenido de una hernia perineal primaria. Conclusión: Es una neoplasia infrecuente que se presenta en aproximadamente el 0.7% de los casos, con comportamiento agresivo metastásico y con necesidad de tratamiento adyuvante.

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“…The major differential diagnoses of LGFMS are mesenchymal tumors with fibromyxoid features, such as myxoma, low-grade myxofibrosarcoma, desmoid fibromatosis, nodular fasciitis, perineurioma, neurofibroma, schwannoma, ossifying fibromyxoid tumor, and dermatofibrosarcoma protuberans [13,29]. These tumors have similar morphologic characteristics include spindle tumor cells and fibromyxoid stroma.…”

Section: Discussionmentioning

confidence: 99%

Primary small intestine mesenteric low-grade fibromyxoid sarcoma with foci of atypical epithelioid whorls and diffuse DOG1 expression: a case report

2020

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Background Low-grade fibromyxoid sarcoma (LGFMS) is a rare fibroblastic tumor often involving deep tissue of trunk and lower extremities in young to middle-aged patients. Rarely, LGFMS can occur in other sites including head and neck, chest, abdomen and female reproductive system. Three cases of LGFMS in mesentery of small intestine have been reported and all have conventional histologic features. Herein we reported a unique case of LGFMS in mesentery of small intestine. Case presentation A 43 year-old male with chief complaint of lower back pain for 4 years presented to our hospital. Physical exam reveal a firm, non-tender, non-distended, mobile large abdominal mass, which was shown on abdominal CT as a 10 cm retroperitoneal tumor. Biopsy revealed a spindle cell neoplasm in a myxoid background with a delicate vascular network. Tumor resection was performed. Gross examination of the resected specimen showed a 10.8 cm, tan-white, smooth, firm, lobulated mesenteric mass with bulging and gelatinous cut surface and confined within small bowel serosa. Microscopic examination demonstrated foci epithelioid cords and whorls with prominent atypia, in additional of regular, bland-appearing spindle cells in a fibrous and myxoid stroma and osseous metaplasia. The tumor cells stained diffusely positive for DOG1 with moderate staining density, and diffusely and strongly positive for MUC4. Rearrangement involving FUS (16p11.2) gene was identified with break-apart probe and confirmed by Anchored Multiplex PCR. A final diagnosis of low-grade fibromyxoid sarcoma was rendered. Conclusion Our case highlights the importance of including LGFMS in the differential diagnosis of mesenteric tumors and the DOG1 positivity which could represent a potential diagnostic pitfall.

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Sarcoma fibromixoide de bajo grado, un diagnóstico diferencial esencial en los tumores mixoides de apariencia benigna

Cited by 5 publications

References 12 publications

Novel KMT2B Gene Mutation in MUC4 Positive Low-grade Fibromyxoid Sarcoma

Novel KMT2B Gene Mutation in MUC4 Positive Low-grade Fibromyxoid Sarcoma

Sarcoma fibromixoide de bajo grado como contenido de hernia perineal. Reporte de un caso

Primary small intestine mesenteric low-grade fibromyxoid sarcoma with foci of atypical epithelioid whorls and diffuse DOG1 expression: a case report

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