Pitfalls in the differential diagnosis of renal tumor in an adolescent

Valera, Elvis Terci; Brassesco, María Sol; Cortez, María Angélica; Queiróz, Rosane Gomes de Paula; Castro‐Gamero, Angel Mauricio; Barros, Marcus Vinicius de Castro; Vicente, Yvone Avalloni; Tucci, Sílvio; Scrideli, Carlos Alberto; Tone, Luíz Gonzaga

doi:10.1002/pbc.22289

Cited by 3 publications

(5 citation statements)

References 12 publications

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“…6,8 On the basis of the marked histologic overlap between DSRCT and blastemal-predominant WT, additional immunohistochemical and molecular studies are often essential to arrive at the correct diagnosis. 19 Our data contrast with previous reports, including a study of tissue microarray specimens 15 in which the focal desmin reactivity would be challenging to detect as compared with our whole-mount evaluation. Even when WT presents at a high clinical stage, survival is >75% at 8 years, 11 compared with the more aggressive DSRCT with an overall median survival of 2 years.…”

Section: Discussioncontrasting

confidence: 98%

Diagnostic Pitfalls of Differentiating Desmoplastic Small Round Cell Tumor (DSRCT) From Wilms Tumor (WT)

Arnold

Schoenfield

Limketkai³

et al. 2014

American Journal of Surgical Pathology

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Desmoplastic small round cell tumor (DSRCT) and blastemal-predominant Wilms tumor (WT) share overlapping histologic features, yet accurate distinction is critical because of differing prognosis and treatment. We encountered a neck mass in a young adult with a concomitant abdominal mass. The neck mass was initially concerning for DSRCT on the basis of the poorly differentiated morphology, desmoplastic stroma, and immunoreactivity for desmin and cytokeratin. However, focal triphasic elements and glomeruloid bodies were identified on deeper sections, WT1 immunoreactivity was seen with antibodies to both the amino-terminus and carboxy-terminus, and EWSR1-WT1 rearrangement studies were negative, supporting the ultimate diagnosis of WT. On the basis of the overlapping histologic features of DSRCT and blastemal-predominant WT, we undertook a comparison study of desmin and cytokeratin reactivity patterns. We found that, whereas desmin reactivity was more frequent in DSRCT (11 of 12) than in WT blastema (11 of 22, P=0.024), dot-like perinuclear reactivity was seen with equal frequency in desmin-reactive DSRCT (10 of 11) and WT blastema (10 of 11), illustrating an important diagnostic pitfall. Moreover, we demonstrate coexpression of desmin and cytokeratin in both DSRCT (9 of 12) and WT blastema (11 of 22). Importantly, although dot-like desmin reactivity and coexpression of desmin and cytokeratin are historically associated with DSRCT, we demonstrate that these features can be seen in either DSRCT or blastemal-predominant WT. In these challenging cases, detection of an EWSR1-WT1 rearrangement and selective WT1 carboxy-terminus immunoreactivity (characteristic of DSRCT) or dual immunoreactivity for the WT1 amino-terminus and carboxy-terminus (characteristic of WT) remain the most discriminating diagnostic tools.

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Section: Discussioncontrasting

confidence: 98%

Diagnostic Pitfalls of Differentiating Desmoplastic Small Round Cell Tumor (DSRCT) From Wilms Tumor (WT)

Arnold

Schoenfield

Limketkai³

et al. 2014

American Journal of Surgical Pathology

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“…7 Por eso, al momento del diagnóstico, puede encontrarse diseminación extrarrenal del tumor, con enfermedad nodular regional que ha sido reportada en algunos casos de RCC tipo papilar como AM dado su semejanza histológica. 9,15 Lo anterior, aunado con el incompleto conocimiento dilucidado de la historia natural o factores pronósticos en cánceres renales en adolescentes, el valor limitado de las imágenes preoperatorias para un diagnóstico definitivo, y la necesidad del estudio inmunohistoquímico para determinar el tipo de tumor, hace que la intervención quirúrgica como primera instancia se encuentre sustentado en la actuación frente a ese escenario, 66 aún ante la posibilidad de un cuadro benigno. 2 Se ha planteado estudio con biopsia por aspirado de aguja fina guiado por imágenes, sin embargo, no está protocolizado ni se tiene un perfil de seguridad conocido, y existe el riesgo de diseminación o siembra pasiva a nódulos perirrenales.…”

Section: Discussionunclassified

“…1,14 Existe un evidente desafío en la distinción entre masas benignas o tumores malignos con imágenes, determinante en la prioridad del manejo. 1,15,16 Además, hay muy poca información referente al estudio imagenológico en esa población, 3,17 lo que conlleva a establecer la relación clínica e imagenológica en el abordaje de esas entidades. El gold standard en el diagnóstico definitivo es el estudio anatomopatológico de la masa renal.…”

Section: Introductionunclassified

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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“…In addition, blastema predominant/monophasic Wilms tumors present a particular diagnostic challenge, 15 as they may be difficult to distinguish from other small round cell tumors, especially on small biopsy, in the setting of metastatic disease, or in an unusual clinical presentation. 5,15,32 Individual case reports have illustrated the difficulty in accurately distinguishing blastema predominant Wilms tumors from other small round cell tumors, especially PNET and desmoplastic small round cell tumor (DSRCT). 5,32 In this setting, ancillary studies such as immunohistochemistry and cytogenetic and molecular analyses have an invaluable role in diagnosis; however, to date, there are no known recurring cytogenetic translocations or immunohistochemical markers characteristic of Wilms tumors.…”

Section: Pax2 Is a Sensitive Marker Of Wilms Tumorsmentioning

confidence: 98%

“…5,15,32 Individual case reports have illustrated the difficulty in accurately distinguishing blastema predominant Wilms tumors from other small round cell tumors, especially PNET and desmoplastic small round cell tumor (DSRCT). 5,32 In this setting, ancillary studies such as immunohistochemistry and cytogenetic and molecular analyses have an invaluable role in diagnosis; however, to date, there are no known recurring cytogenetic translocations or immunohistochemical markers characteristic of Wilms tumors. In those situations in which ancillary studies are needed for diagnosis, WT1 has not proven to be a sensitive or specific marker for Wilms tumors.…”

Section: Pax2 Is a Sensitive Marker Of Wilms Tumorsmentioning

confidence: 98%

PAX2 Expression in Wilms Tumors and Other Childhood Neoplasms

Davis

Matsumura

Weeks³

et al. 2011

American Journal of Surgical Pathology

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PAX2 plays an important role in kidney development; although small studies have demonstrated PAX2 expression in Wilms tumors (WT), comprehensive studies on formalin-fixed tissue are lacking. Thus, we systematically evaluated PAX2 immunohistochemical staining in a retrospective study of pediatric WT, as compared with other pediatric tumors. We stained formalin-fixed, paraffin-embedded sections from 39 WT, 6 nephrogenic rests, 8 non-Wilms renal tumors, and 43 nonrenal pediatric small round cell tumors with 2 different PAX2 polyclonal antibodies. PAX2 demonstrated strong, diffuse staining of epithelial and blastema components of WT (97% of cases). PAX2 stained WT stroma in fewer cases (23%), but 80% of anaplastic foci were positive. Nephrogenic rests, 1 case of metanephric adenoma, and 1 pediatric renal cell carcinoma were also PAX2 positive; other pediatric renal tumors were negative. Neuroblastoma, primitive neuroectodermal tumor/Ewings, and T-cell acute lymphoblastic lymphoma (ALL) were PAX2 negative. However, PAX2 weakly stained some cases of B-cell ALL rhabdomyosarcoma (RMS) was also stained, especially alveolar RMS (83%), with less staining of embryonal RMS (13%). One of the antibodies also stained maturing myoid cytoplasm of WT and RMS. This study shows that PAX2 is a sensitive marker of WT (sensitivity 97%), but PAX2 shows weak-to-moderate-intensity nuclear staining of RMS and B-cell ALL, somewhat limiting its utility. However, PAX2 may be a helpful marker in certain diagnostic situations. We speculate that RMS and B-cell ALL staining could be due to antibody cross-reactivity with PAX family members with known expression in RMS and B-cell ALL.

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Pitfalls in the differential diagnosis of renal tumor in an adolescent

Cited by 3 publications

References 12 publications

Diagnostic Pitfalls of Differentiating Desmoplastic Small Round Cell Tumor (DSRCT) From Wilms Tumor (WT)

Diagnostic Pitfalls of Differentiating Desmoplastic Small Round Cell Tumor (DSRCT) From Wilms Tumor (WT)

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

PAX2 Expression in Wilms Tumors and Other Childhood Neoplasms

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