Primitive Myxoid Mesenchymal Tumor of Infancy Involving Chest Wall in an Infant: A Case Report and Clinicopathologic Correlation

Foster, Jennifer; Vasudevan, Sanjeev A.; Hicks, M. John; Schady, Deborah; Chintagumpala, Murali

doi:10.2350/15-05-1644-cr.1

Cited by 13 publications

(13 citation statements)

References 9 publications

(30 reference statements)

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“…Electron microscopic analysis revealed primitive mesenchymal features and the presence of abundant dilated rough endoplasmic reticulum in the cytoplasm, but found no distinctive features other than an apparent fibroblastic line of differentiation. 1,16,18 …”

Section: Discussionmentioning

confidence: 99%

“…Nevertheless, the outcome and long-term survival in children with primitive myxoid mesenchymal tumor of infancy is mostly unknown. 10–18 This study aimed to evaluate the clinical utility of testing for the BCOR -internal tandem duplication and the use of BCOR and B-cell CLL/lymphoma 6 (BCL6) immunohistochemistry as a diagnostic marker for this rare soft tissue sarcoma. Specifically, we wished to evaluate the effectiveness of these tests to differentiate primitive myxoid mesenchymal tumor of infancy from congenital infantile fibrosarcoma.…”

Section: Introductionmentioning

confidence: 99%

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Recurrent BCOR internal tandem duplication and BCOR or BCL6 expression distinguish primitive myxoid mesenchymal tumor of infancy from congenital infantile fibrosarcoma

et al. 2017

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Primitive myxoid mesenchymal tumor of infancy is a rare sarcoma that preferentially affects infants. It can be locally aggressive and rarely metastasizes, but the long-term outcome of children with this tumor is mostly unknown. Histologically, it is characterized by primitive cells with abundant myxoid stroma. Internal tandem duplication of B-cell CLL/lymphoma 6 (BCL6)-interacting co-repressor (BCOR) exon 15 has recently been described in clear cell sarcoma of kidney, central nervous system high-grade neuroepithelial tumor with BCOR alteration, and primitive myxoid mesenchymal tumor of infancy. Herein, we report 5 cases of primitive myxoid mesenchymal tumor of infancy: 3 girls and 2 boys with mean age of 6.5 months. Tumors were located in the paraspinal region (n=3), back (n=1), or foot (n=1) and ranged in size from 2.5 to 10.2 cm. BCOR-internal tandem duplication was confirmed by PCR and sequencing in all 5 cases. The minimally duplicated region consisted of 9 residues, which is shorter than was previously reported in others BCOR-associated tumors. To assess the clinical value and specificity of the BCOR-internal tandem duplication, a group of 11 ETV6-rearranged congenital infantile fibrosarcomas were evaluated and no BCOR-internal tandem duplication was identified in any case. Though not detected in congenital infantile fibrosarcomas, BCOR and BCL6 immunoreactivity was present in >90% of the nuclei of tumor cells in each of the 5 primitive myxoid mesenchymal tumor of infancy. The presence of BCOR-internal tandem duplication in all 5 primitive myxoid mesenchymal tumors of infancy provides evidence it is a recurrent somatic abnormality and substantiates the concept that indeed this tumor is a unique sarcoma of infancy. Our findings indicate that identification of BCOR-internal tandem duplication and/or nuclear immunoreactivity for BCOR or BCL6 can aid in the diagnosis of primitive myxoid mesenchymal tumor of infancy and help to differentiate it from congenital infantile fibrosarcoma.

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Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Recurrent BCOR internal tandem duplication and BCOR or BCL6 expression distinguish primitive myxoid mesenchymal tumor of infancy from congenital infantile fibrosarcoma

et al. 2017

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“…Эти пациенты имели неврологические осложнения: парез нижних конечностей, нарушение функции тазовых органов [6]. Описаны единичные случаи вовлечения мягких тканей орбиты, грудной клетки, твердого неба, крестцово-копчиковой области [7,9,20,21]. Три пациента имели отдаленные метастазы в головной мозг, спинной мозг, печень, кости, лимфатические узлы [3,6,14].…”

Section: клинические проявленияunclassified

“…ХТ в целом была малоэффективной, однако наибольшей эффективностью отличались комбинации цитостатиков, содержащих доксорубицин [5,21].…”

Section: подходы к лечению и прогностические факторыunclassified

Primitive myxoid mesenchymal tumor of infancy. Review of literature

Фоченкова¹,

Радулеску²,

Рысев³

et al. 2021

Ross. ž. det. gematol. onkol.

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Primitive myxoid mesenchymal tumor of infancy (PMMTI) is an aggressive tumor with a high rate of local recurrence, rare metastasis and poor response to chemotherapy.PMMTI is a rare soft-tissue sarcoma that preferentially affects infants. It is isolated from the group of infantile fibrosarcomas or myofibroblastic tumors. PMMTI differs from other tumors in the clinical course, morphological features and primarily molecular genetic changes. ETV6-NTRK3 gene fusion is characteristic of infantile fibrosarcomas. However, it is not detected in patients with PMMTI. BCOR ITD had been described in patients with PMMTI and it allowed to define this tumor from the group of infantile fibrosarcomas.Unified treatment approaches have not been identified for this tumor yet. Radical surgical removal is preferred treatment. BCOR ITD is a target. Nowadays search for targeted drugs is ongoing and it could help to solve the problem of PMMTI treatment.

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“…In 2015, Jennifer reported P.M.M.T. in the chest wall of infant and recommended Surgery to be the most effective treatment given the lack of predilection for metastasis and poor response to traditional chemotherapy [8].…”

Section: Review Of Literaturementioning

confidence: 99%

Primitive Myxoid Mesenchymal Tumour of Nose

Sachdeva

Shrivastav

2020

Indian J Otolaryngol Head Neck Surg

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Primitive Myxoid Mesenchymal Tumour of Infancy (P.M.M.T.I.) is a locally aggressive myofibroblastic tumour, occurring mostly in the first year of life. Grossly, it occurs as a non-encapsulated, multi-nodular tumour with focal infiltrative growth with a size ranging from 2 to 15 cm. It is composed of primitive spindled cells in a myxoid background. It is a low-grade fibroblastic malignancy with low metastatic potential with a high local recurrence rate. On immunohistochemistry, it stains positive for Vimentin. no reactivity for smooth muscle actin, muscle specific actin, desmin, S-100 protein, or myogenin. Electron microscopy documented a poorly differentiated fibroblastic proliferation. The present case is of a P.M.M.T. occurring in the nose of a 3 years old female child. This is the first case reported from Central India. The child had recurrent nasal growth and the excision biopsy was suggestive of intermediate grade fibroblastic neoplasm. The biopsy, on IHC staining, was positive for Vimentin and CD99 and negative for S-100, CD-34 and Desmin, favouring the diagnosis of P.M.M.T. The child had a total of three recurrence of growth after local excision before diagnosis was established. In the prior two surgeries, the histopathological analysis reported it as a benign nasal polyp. After the third surgery, the specimen was sent for IHC. Immunohistochemical stains helped in differentiating it from congenital infantile fibrosarcomas, a similar type of mesodermal tumour. The present case of Primitive myxoid mesenchymal tumour following IHC stains were positive for Vimentin, CD-99, CD-117 and NESTIN, pointing to the primitive nature of the tumour. It was negative for the neural marker. Since it is chemo resistant, the preferred method of treatment is wide surgical excision.

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Primitive Myxoid Mesenchymal Tumor of Infancy Involving Chest Wall in an Infant: A Case Report and Clinicopathologic Correlation

Cited by 13 publications

References 9 publications

Recurrent BCOR internal tandem duplication and BCOR or BCL6 expression distinguish primitive myxoid mesenchymal tumor of infancy from congenital infantile fibrosarcoma

Recurrent BCOR internal tandem duplication and BCOR or BCL6 expression distinguish primitive myxoid mesenchymal tumor of infancy from congenital infantile fibrosarcoma

Primitive myxoid mesenchymal tumor of infancy. Review of literature

Primitive Myxoid Mesenchymal Tumour of Nose

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