Pathologic Case of the Month

Palmer, Hal E.; North, Paula E.; Nicholas, Richard W.; Allison, Janice W.; Parham, David M.

doi:10.1001/archpedi.153.10.1107

Cited by 4 publications

(1 citation statement)

References 6 publications

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“…Originally regarded as a cartilaginous tumor, EMC is now viewed as a distinct entity with indeterminate histogenesis that differs from chondrosarcoma [343][344][345]. Fewer than 20 pediatric cases have been reported [343,344,[346][347][348][349][350][351]. The slowly growing, occasionally painful mass may be present for a few weeks to years.…”

Section: Extraskeletal Myxoid Chondrosarcomamentioning

confidence: 99%

Soft Tissue Tumors of Uncertain Origin

2012

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Many soft tissue tumors of childhood lack obvious differentiation toward a defined mesenchymal tissue type or have a phenotype that does not correspond to any defined normal tissue. These challenging tumors are currently regarded as neoplasms of uncertain differentiation. Nonetheless, there have been great strides in the understanding of their pathologic and genetic features and biologic underpinnings. The application of new genetic information to the pathologic diagnosis among this group of tumors is an emerging area in diagnostic pediatric pathology. This article reviews the clinicopathologic features of tumors of uncertain and/or miscellaneous origin, with an emphasis on the unique aspects of these neoplasms in children and adolescents, use of diagnostic adjuncts, and differential diagnosis.

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Section: Extraskeletal Myxoid Chondrosarcomamentioning

confidence: 99%

Soft Tissue Tumors of Uncertain Origin

2012

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Congenital high-grade sarcoma presenting as skin nodules and respiratory distress in a neonate

2008

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We report, to our knowledge, the first case of a congenital, widespread, aggressive high-grade sarcoma, presented as multiple skin nodules and respiratory distress in a neonate that had a t(9;22)(q22;q11-12) cytogenetic abnormality suggestive of a more indolent extraskeletal myxoid chondrosarcoma (EMC). EMC is generally thought of as a slow-growing tumor that presents between the fourth and sixth decades of life. Our patient was a 45,XY, t(13;14) newborn who presented at birth with subcutaneous nodules involving the face, scalp, back and extremities, as well as multiple intrathoracic, intraabdominal and intracranial masses. Diagnosis was made using electron microscopy and immunohistochemical and cytogenetic studies. Despite attempts to control rapid growth of lesions using high-dose steroids and cis-retinoic acid, patient's clinical status continued to deteriorate and life support was withdrawn at the 26 day of life.

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SMARCB1-deficient Tumors of Childhood: A Practical Guide

Pawel

2017

Pediatr Dev Pathol

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The SMARCB1 gene ( INI1, BAF47) is a member of the SWItch/Sucrose Non-Fermentable (SWI/SNF) chromatin remodeling complex, involved in the epigenetic regulation of gene transcription. SMARCB1 acts as a tumor suppressor gene, and loss of function of both alleles gives rise to SMARCB1-deficient tumors. The prototypical SMARCB1-deficient tumor is the malignant rhabdoid tumor (MRT) which was first described in the kidney but also occurs in soft tissue, viscera, and the brain (where it is referred to as atypical teratoid rhabdoid tumor or AT/RT). These are overwhelmingly tumors of the very young, and most follow an aggressive and ultimately lethal course. Morphologically, most but not all contain a population of "rhabdoid" cells, which are large cells with abundant cytoplasm, perinuclear spherical inclusions, and eccentric vesicular nuclei with large inclusion-like nucleoli. MRT immunohistochemistry reveals complete loss of SMARCB1 nuclear expression, and molecular analysis confirms biallelic SMARCB1 inactivation in the vast majority. Rare AT/RTs have loss of SMARCA4, another SWI/SNF member, rather than SMARCB1. With the widespread adoption of SMARCB1 immunohistochemistry, an increasing number of SMARCB1-deficient tumors outside of the MRT-AT/RT spectrum have been described. In addition to MRT and AT/RT, pediatric tumors with complete loss of SMARCB1 expression include cribriform neuroepithelial tumor, renal medullary carcinoma, and epithelioid sarcoma. Tumors with variable loss of SMARCB1 expression include subsets of epithelioid malignant peripheral nerve sheath tumor, schwannomas arising in schwannomatosis, subsets of chordomas, myoepithelial carcinomas, and sinonasal carcinomas. Variable and reduced expression of SMARCB1 is characteristic of synovial sarcoma. In this review, the historical background, clinical characteristics, morphology, immunohistochemical features, and molecular genetics most germane to these tumors are summarized. In addition, familial occurrence of these tumors (the rhabdoid tumor predisposition syndrome) is discussed. It is hoped that this review may provide practical guidance to pathologists encountering tumors that have altered expression of SMARCB1.

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Pathologic Case of the Month

Cited by 4 publications

References 6 publications

Soft Tissue Tumors of Uncertain Origin

Soft Tissue Tumors of Uncertain Origin

Congenital high-grade sarcoma presenting as skin nodules and respiratory distress in a neonate

SMARCB1-deficient Tumors of Childhood: A Practical Guide

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