<i>SMARCB1/INI1</i> inactivation in renal medullary carcinoma

Caldéraro, Julien; Moroch, Julien; Pierron, Gaëlle; Pédeutour, Florence; Grison, Camille; Maillé, Pascale; Soyeux, Pascale; Taille, Alexandre de la; Couturier, Jérôme; Vieillefond, Annick; Rousselet, Marie Christine; Delattre, Olivier; Allory, Yves

doi:10.1111/j.1365-2559.2012.04228.x

Cited by 105 publications

(76 citation statements)

References 29 publications

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“…48 Several other tumor types also show loss of SMARCB1 expression, including renal medullary carcinomas, B50% of epithelioid malignant peripheral nerve sheath tumors, and a subset of myoepithelial carcinomas of soft tissue, extraskeletal myxoid chondrosarcomas, and poorly differentiated chordomas. 43,48,51,52 Familial paraganglioma syndrome, the most common inherited paraganglioma predisposition syndrome, is caused by germline mutations in the succinate dehydrogenase (SDH) subunit genes. 53,54 The SDH complex resides in the inner mitochondrial membrane, where it participates in both the citric acid cycle (catalyzing the oxidation of succinate to fumarate) and the electron transport chain (complex II).…”

Section: Lineage-restricted Transcription Factorsmentioning

confidence: 99%

Novel uses of immunohistochemistry in the diagnosis and classification of soft tissue tumors

Hornick

2014

Modern Pathology

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Immunohistochemistry plays a key role in the diagnosis of soft tissue tumors. Until recently, however, the primary purpose of immunohistochemistry in this context was simply to attempt to demonstrate a line of differentiation. Unfortunately, most traditional markers (predominantly directed against cytoplasmic determinants) show relatively limited specificity. Over the last decade or so, much more specific immunohistochemical markers for soft tissue tumors have been developed. This review will provide an update of some of the most useful new diagnostic markers, which are significantly changing clinical practice for surgical pathologists, separated into three general categories: (1) lineage-restricted transcription factors, (2) protein correlates of molecular alterations, and (3) diagnostic markers identified by gene expression profiling.

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Section: Lineage-restricted Transcription Factorsmentioning

confidence: 99%

Novel uses of immunohistochemistry in the diagnosis and classification of soft tissue tumors

Hornick

2014

Modern Pathology

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“…Liu Q, et al suggested in 2013 that SMARCB1, a tumor suppressor protein, is not detectable in renal medullary carcinoma by immunohistochemistry. Thus, inactivation of the SMARCB1 gene may play a role in the pathogenesis as well as ALK re-arrangements [16]. These all are promising findings in a path toward understanding this rare malignancy.…”

Section: Discussionmentioning

confidence: 78%

Renal medullary carcinoma: a nearly fatal malignancy specifically affecting patients with a so-called benign condition

et al. 2018

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Renal medullary carcinoma (RMC) is a highly aggressive and rare malignancy found almost exclusively in young patients with sickle cell trait (SCT). Metastatic disease is commonly present at diagnosis. There is very limited experience treating disseminated disease and the prognosis is dismal. We report the case of a young 9-year-old boy with SCT, who presented with 4 months' progression of abdominal pain, nausea and vomiting associated with cough spells, dysphagia, and weight loss. Upon evaluation, he was underweight, pale, and in mild respiratory distress. Cervical lymphadenopathy was evident and abdomen was diffusely tender. A whole-body CT scan showed a left kidney lesion with associated cervical, mediastinal, and retroperitoneal lymphadenopathy. Biopsy of a cervical lymph node revealed metastatic RMC. Patient was started on combination chemotherapy with paclitaxel, carboplatin, and gemcitabine followed by left adrenalectomy. In spite of having advanced disease, our patient achieved an excellent response with a progression-free survival of 17 months. Although SCT is thought to be a "benign" condition, RMC is one devastating complication associated with it. Considering its rarity, the near uniform associated fatality should prompt the question of whether clinical practice should change regarding proper counseling of these patients and raise awareness in the medical community.

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“…131,133 Other tumor types reported to show variable loss of INI1 expression include extraskeletal myxoid chondrosarcomas (4 of 24; 17%), 134 poorly differentiated chordoma, undifferentiated hepatoblastoma, and renal medullary carcinoma. [135][136][137][138] Approximately 60% of patients with the rare hereditary syndrome of familial schwannomatosis have germline mutations in INI1/SMARCB1, which is associated with a ''mosaic'' pattern of protein loss by immunohistochemistry. 139 Reduced, but not complete loss of, INI1 expression has been reported in synovial sarcoma; the significance of this finding is uncertain.…”

Section: Ini1 (Integrase Interactor 1)mentioning

confidence: 99%

An Update on the Application of Newly Described Immunohistochemical Markers in Soft Tissue Pathology

Lin

Doyle

2015

Archives of Pathology &Amp; Laboratory Medicine

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Context During the last 5 to 10 years, significant progress has been made in the molecular characterization of soft tissue tumors, predominantly with the identification of recurrent translocations or amplification of certain genes in different tumor types. Alongside this, translational efforts have identified many novel and diagnostically useful immunohistochemical markers for many of these tumor types. Objective This article reviews a select group of recently described immunohistochemical markers of particular use in the evaluation of mesenchymal neoplasms; the underlying biology of the protein product, practical utility, and limitations of each marker are discussed in detail. Data Sources Literature review, authors' research data, and personal practice experience serve as sources. Conclusions There are many diagnostically useful immunohistochemical markers to help confirm the diagnosis of many different soft tissue tumor types, some of which have reduced the need for additional, and more costly, studies, such as fluorescence in situ hybridization. However, no one marker is 100% specific for a given tumor, and knowledge of potential pitfalls and overlap in patterns of staining among other tumor types is crucial to ensure the appropriate application of these markers in clinical practice.

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SMARCB1/INI1 inactivation in renal medullary carcinoma

Abstract: The specific SMARCB1/INI1 inactivation observed in RMCs suggests that RMC and CDC are different entities.

Cited by 105 publications

References 29 publications

Novel uses of immunohistochemistry in the diagnosis and classification of soft tissue tumors

Novel uses of immunohistochemistry in the diagnosis and classification of soft tissue tumors

Renal medullary carcinoma: a nearly fatal malignancy specifically affecting patients with a so-called benign condition

An Update on the Application of Newly Described Immunohistochemical Markers in Soft Tissue Pathology

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