BRAF mutations in pediatric metanephric tumors

Chami, Rose; Yin, Minzhi; Marrano, Paula; Teerapakpinyo, Chinachote; Shuangshoti, Shanop; Thorner, Paul

doi:10.1016/j.humpath.2015.03.019

Cited by 40 publications

(23 citation statements)

References 48 publications

(70 reference statements)

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“…MAFs show features of both MST and MA (as described above), including positive nuclear staining for WT1 in the epithelial component, and positive CD34 staining in the stromal component [104,105]. Furthermore, approximately 50% of MAFs carry the BRAF V600E mutation, although rare WTs may also harbor a BRAF mutation [18,61,106].…”

Section: Biphasic Tumorsmentioning

confidence: 88%

“…CMNs may show variable CyclinD1 positivity [31,32], and in very rare cases even WT1 positivity [40]. The majority of MSTs are BRAFV600E (~65%) and CD34 positive (Figure 2), while the other tumors are usually negative [18,35,42,80]. The rare primary renal synovial sarcomas are positive for CD99, vimentin and TLE1, and often demonstrate at least focal expression of cytokeratins and EMA, but can be negative or only weakly positive for INI1 [81].…”

Section: Immunohistochemistrymentioning

confidence: 99%

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Renal Tumors of Childhood—A Histopathologic Pattern-Based Diagnostic Approach

Ooms

Vujanić

D’Hooghe

et al. 2020

Cancers

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Renal tumors comprise approximately 7% of all malignant pediatric tumors. This is a highly heterogeneous group of tumors, each with its own therapeutic management, outcome, and association with germline predispositions. Histopathology is the key in establishing the correct diagnosis, and therefore pathologists with expertise in pediatric oncology are needed for dealing with these rare tumors. While each tumor shows different histologic features, they do have considerable overlap in cell type and histologic pattern, making the diagnosis difficult to establish, if based on routine histology alone. To this end, ancillary techniques, such as immunohistochemistry and molecular analysis, can be of great importance for the correct diagnosis, resulting in appropriate treatment. To use ancillary techniques cost-effectively, we propose a pattern-based approach and provide recommendations to aid in deciding which panel of antibodies, supplemented by molecular characterization of a subset of genes, are required.

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Section: Biphasic Tumorsmentioning

confidence: 88%

Section: Immunohistochemistrymentioning

confidence: 99%

Renal Tumors of Childhood—A Histopathologic Pattern-Based Diagnostic Approach

Ooms

Vujanić

D’Hooghe

et al. 2020

Cancers

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“…Attention to the association of BRAF mutation with metanephric adenoma has been drawn by a few case reports and small series [ 7 , 8 , 10 , 11 , 34 ]. The current study, which tested 48 cases of metanephric adenoma for BRAF mutation, is the largest of its kind.…”

Section: Discussionmentioning

confidence: 99%

“…Of note, immunostaining with the VE1 antibody has been reported as reliable for the detection of BRAF V600E mutation in several of the above-mentioned neoplasms [ 23 – 29 ]. Regarding metanephric adenomas, only a few studies [ 8 , 9 , 11 ] containing overall only 20 cases, have investigated the use of immunohistochemistry to detect BRAF mutation.…”

Section: Introductionmentioning

confidence: 99%

Distinct clinicopathological features in metanephric adenoma harboring BRAF mutation

et al. 2016

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BRAF mutation recently has been reported in metanephric adenoma. We sought to determine the clinical and morphologic features of BRAF-mutated metanephric adenoma and to correlate BRAF mutation with BRAF V600E immunohistochemical staining results. A series of 48 metanephric adenomas and 15 epithelial-predominant nephroblastomas were analyzed for the occurrence of BRAF mutation (BRAF V600E/V600E complex, BRAF V600D, BRAF V600K and BRAF V600R) using the BRAF RGQ PCR kit (Qiagen). Immunohistochemistry was performed using monoclonal mouse antibodies against p16INK4 and VE1 (Spring Bioscience), recognizing the BRAF V600E mutant protein. Forty-one of 48 cases (85%) showed BRAF V600E mutation; none of the other BRAF variants was detected. Of 41 BRAF-mutated metanephric adenomas, 33 showed positive VE1 immunostaining (sensitivity 80%, specificity 100%); in all cases we detected p16INK4 expression regardless of BRAF mutation status. All epithelial-predominant nephroblastomas were BRAF-wild-type and none expressed VE1. The following features were associated with BRAF V600E mutation: older patients (p=0.01), female predominance (p=0.005) and the presence of a predominantly acinar architecture (p=0.003). In summary, BRAF-mutated metanephric adenomas were associated with older age, female predominance, and the presence of a predominant acinar component. A subset (20%) of BRAF-mutated metanephric adenomas was not detected by VE1 immunostaining.

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“…45 Histológicamente, el AM se reporta como células pequeñas monomórficas en configuración tubular o algunas conformaciones glomeruloides, 30 cuboides o columnares. 51 Por lo general, no presenta encapsulamiento. Suelen encontrarse calcificaciones o cuerpos de psammoma y una menor tasa mitótica comparada con el CCR tipo papilar 9 o el TW.…”

Section: Discussionunclassified

Una masa renal poco común en una adolescente – presentación de caso y revisión de la literatura

2019

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Introducción Las neoplasias renales en la población pediátrica y adolescente son raras, entre el 6% y el 7% de las masas en pediatría. En adolescentes plantea un desafío clínico importante. Presentan variables manifestaciones sistémicas inespecíficas o cuadros asintomáticos. En la literatura se han identificado el Carcinoma de Células Renales y el Tumor de Wilms como las masas renales más prevalentes en menores de 20 años, el Adenoma Metanéfrico es una entidad muy poco común en esa población. Presentación de caso Adolescente, con dolor en flanco izquierdo y hematuria macroscópica monosintomática, estudios imagenológicos evidencian lesión de aspecto neoplásico renal izquierda, que al complementarse con estudios de inmunohistoquímica resulta en Adenoma Metanéfrico. Se realiza revisión de literatura publicada en las últimas tres décadas al respecto. La paciente es llevada a nefrectomía radical izquierda, y posteriormente el estudio anatomopatológico sugiere Adenoma Metanéfrico, con marcadores de inmunohistoquímica que corroboran el hallazgo. Conclusiones Los tumores renales en adolescentes son raros. Se requiere de alta sospecha clínica, un examen físico meticuloso y el apoyo en imágenes diagnósticas. Generalmente, el estudio histopatológico determina el diagnóstico definitivo, no obstante, cuando persiste la confusión, se recurre a la inmunohistoquímica. El Carcinoma de Células Renales es el más prevalente de los tumores renales en adolescentes, pero existen entidades indistinguibles al estudio imagenológico que plantean un desafío clínico; es el objetivo brindar una herramienta de apoyo en el abordaje del Adenoma metanéfrico e instar al desarrollo de conocimiento sobre una entidad patológica en ese grupo etario que ha sido poco documentado que indudablemente redundará en mejores prácticas e impacto científico, social y económico.

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BRAF mutations in pediatric metanephric tumors

Cited by 40 publications

References 48 publications

Renal Tumors of Childhood—A Histopathologic Pattern-Based Diagnostic Approach

Renal Tumors of Childhood—A Histopathologic Pattern-Based Diagnostic Approach

Distinct clinicopathological features in metanephric adenoma harboring BRAF mutation

Una masa renal poco común en una adolescente – presentación de caso y revisión de la literatura

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