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Xp11.2 translocation renal cell carcinoma occurring during pregnancy with a novel translocation involving chromosome 19: a case report with review of the literature.

Armah HB, Parwani AV, Surti U, Bastacky SI - Diagn Pathol (2009)

Bottom Line: Cytokeratin AE1/AE3, cytokeratin CAM-5.2, calveolin, and parvalbumin were moderately positive.She received no adjuvant therapy, delivered a normal term baby five months later, and is alive without evidence of disease 27 months after diagnosis and surgery.Unlike most recently reported Xp11.2 translocation RCCs in adult patients with aggressive clinical course, this adult case occurring during pregnancy with a novel translocation involving chromosome 19 followed an indolent clinical course.

View Article: PubMed Central - HTML - PubMed

Affiliation: Department of Pathology, Presbyterian-Shadyside Hospital, University of Pittsburgh Medical Center, Pittsburgh, Pennsylvania, USA. armahh2@upmc.edu

ABSTRACT
The recently recognized renal cell carcinomas (RCCs) associated with Xp11.2 translocations (TFE3 transcription factor gene fusions) are rare tumors predominantly reported in children. They comprise at least one-third of pediatric RCCs and only few adult cases have been reported. Here, we present a case of Xp11.2 translocation RCC in 26-year-old pregnant female. Her routine antenatal ultrasonography accidentally found a complex cystic right renal mass. Further radiologic studies revealed unilocular cyst with multiple mural nodules at inferior pole of right kidney, which was suspicious for RCC. She underwent right radical nephrectomy at 15 weeks gestation. Macroscopically, the cystic tumor was well encapsulated with multiple friable mural nodules on its inner surface. Microscopically, the tumor consisted of clear and eosinophilic/oncocytic voluminous cells arranged in papillary, trabecular, and nested/alveolar patterns. Occasional hyaline nodules and numerous psammoma bodies were present.Immunohistochemically, the tumor showed strong nuclear positivity for TFE3. Epithelial membrane antigen, CD10, and E-cadherin were strongly positive. Cytokeratin AE1/AE3, cytokeratin CAM-5.2, calveolin, and parvalbumin were moderately positive. Cytokeratin 7, renal cell carcinoma antigen, and colloidal iron were focally weakly positive. BerEP4 and carbonic anhydrase IX were negative. Cytogenetically, the tumor harbored a novel variant translocation involving chromosomes X and 19, t(X;19)(p11.2;q13.1). Interphase FISH analysis performed on cultured and uncultured tumor cells using a dual-color break-apart DNA probe within the BCL3 gene on 19q13.3 was negative for the BCL3 gene rearrangement. She received no adjuvant therapy, delivered a normal term baby five months later, and is alive without evidence of disease 27 months after diagnosis and surgery. Unlike most recently reported Xp11.2 translocation RCCs in adult patients with aggressive clinical course, this adult case occurring during pregnancy with a novel translocation involving chromosome 19 followed an indolent clinical course.

No MeSH data available.


Related in: MedlinePlus

Immunohistochemical findings of Xp11 translocation RCC with novel breakpoints, t(X;19)(p11.2;q13.1). A, Moderate positive cytoplasmic staining for cytokeratin AE1-AE3. B, Moderate positive cytoplasmic staining for cytokeratin CAM-5.2. C, Focal weak positive cytoplasmic staining for cytokeratin 7. D, Focal weak positive cytoplasmic staining for renal cell carcinoma antigen.
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Figure 5: Immunohistochemical findings of Xp11 translocation RCC with novel breakpoints, t(X;19)(p11.2;q13.1). A, Moderate positive cytoplasmic staining for cytokeratin AE1-AE3. B, Moderate positive cytoplasmic staining for cytokeratin CAM-5.2. C, Focal weak positive cytoplasmic staining for cytokeratin 7. D, Focal weak positive cytoplasmic staining for renal cell carcinoma antigen.

Mentions: The immunohistochemical results are summarized in Table 1. The neoplastic cells were diffusely strongly immunoreactive (3+, cytoplasmic staining) for epithelial membrane antigen (EMA) [Figure 4A], CD10 (Figure 4B), and E-cadherin (Figure 4C). Nuclear staining for TFE3 (Figure 4D) was diffusely strongly immunoreactive (3+), indicating the presence of the corresponding Xp11.2 translocation. The neoplastic cells were focally moderately immunoreactive (2+, cytoplasmic staining) for cytokeratin AE1-AE3 (Figure 5A), cytokeratin CAM-5.2 (Figure 5B), calveolin, and parvalbumin. The neoplastic cells were focally weakly immunoreactive (1+, cytoplasmic staining) cytokeratin 7 (Figure 5C), renal cell carcinoma antigen (Figure 5D), and colloidal iron. The neoplastic cells did not express BerEP4 or carbonic anhydrase IX.


Xp11.2 translocation renal cell carcinoma occurring during pregnancy with a novel translocation involving chromosome 19: a case report with review of the literature.

Armah HB, Parwani AV, Surti U, Bastacky SI - Diagn Pathol (2009)

Immunohistochemical findings of Xp11 translocation RCC with novel breakpoints, t(X;19)(p11.2;q13.1). A, Moderate positive cytoplasmic staining for cytokeratin AE1-AE3. B, Moderate positive cytoplasmic staining for cytokeratin CAM-5.2. C, Focal weak positive cytoplasmic staining for cytokeratin 7. D, Focal weak positive cytoplasmic staining for renal cell carcinoma antigen.
© Copyright Policy - open-access
Related In: Results  -  Collection

License
Show All Figures
getmorefigures.php?uid=PMC2690580&req=5

Figure 5: Immunohistochemical findings of Xp11 translocation RCC with novel breakpoints, t(X;19)(p11.2;q13.1). A, Moderate positive cytoplasmic staining for cytokeratin AE1-AE3. B, Moderate positive cytoplasmic staining for cytokeratin CAM-5.2. C, Focal weak positive cytoplasmic staining for cytokeratin 7. D, Focal weak positive cytoplasmic staining for renal cell carcinoma antigen.
Mentions: The immunohistochemical results are summarized in Table 1. The neoplastic cells were diffusely strongly immunoreactive (3+, cytoplasmic staining) for epithelial membrane antigen (EMA) [Figure 4A], CD10 (Figure 4B), and E-cadherin (Figure 4C). Nuclear staining for TFE3 (Figure 4D) was diffusely strongly immunoreactive (3+), indicating the presence of the corresponding Xp11.2 translocation. The neoplastic cells were focally moderately immunoreactive (2+, cytoplasmic staining) for cytokeratin AE1-AE3 (Figure 5A), cytokeratin CAM-5.2 (Figure 5B), calveolin, and parvalbumin. The neoplastic cells were focally weakly immunoreactive (1+, cytoplasmic staining) cytokeratin 7 (Figure 5C), renal cell carcinoma antigen (Figure 5D), and colloidal iron. The neoplastic cells did not express BerEP4 or carbonic anhydrase IX.

Bottom Line: Cytokeratin AE1/AE3, cytokeratin CAM-5.2, calveolin, and parvalbumin were moderately positive.She received no adjuvant therapy, delivered a normal term baby five months later, and is alive without evidence of disease 27 months after diagnosis and surgery.Unlike most recently reported Xp11.2 translocation RCCs in adult patients with aggressive clinical course, this adult case occurring during pregnancy with a novel translocation involving chromosome 19 followed an indolent clinical course.

View Article: PubMed Central - HTML - PubMed

Affiliation: Department of Pathology, Presbyterian-Shadyside Hospital, University of Pittsburgh Medical Center, Pittsburgh, Pennsylvania, USA. armahh2@upmc.edu

ABSTRACT
The recently recognized renal cell carcinomas (RCCs) associated with Xp11.2 translocations (TFE3 transcription factor gene fusions) are rare tumors predominantly reported in children. They comprise at least one-third of pediatric RCCs and only few adult cases have been reported. Here, we present a case of Xp11.2 translocation RCC in 26-year-old pregnant female. Her routine antenatal ultrasonography accidentally found a complex cystic right renal mass. Further radiologic studies revealed unilocular cyst with multiple mural nodules at inferior pole of right kidney, which was suspicious for RCC. She underwent right radical nephrectomy at 15 weeks gestation. Macroscopically, the cystic tumor was well encapsulated with multiple friable mural nodules on its inner surface. Microscopically, the tumor consisted of clear and eosinophilic/oncocytic voluminous cells arranged in papillary, trabecular, and nested/alveolar patterns. Occasional hyaline nodules and numerous psammoma bodies were present.Immunohistochemically, the tumor showed strong nuclear positivity for TFE3. Epithelial membrane antigen, CD10, and E-cadherin were strongly positive. Cytokeratin AE1/AE3, cytokeratin CAM-5.2, calveolin, and parvalbumin were moderately positive. Cytokeratin 7, renal cell carcinoma antigen, and colloidal iron were focally weakly positive. BerEP4 and carbonic anhydrase IX were negative. Cytogenetically, the tumor harbored a novel variant translocation involving chromosomes X and 19, t(X;19)(p11.2;q13.1). Interphase FISH analysis performed on cultured and uncultured tumor cells using a dual-color break-apart DNA probe within the BCL3 gene on 19q13.3 was negative for the BCL3 gene rearrangement. She received no adjuvant therapy, delivered a normal term baby five months later, and is alive without evidence of disease 27 months after diagnosis and surgery. Unlike most recently reported Xp11.2 translocation RCCs in adult patients with aggressive clinical course, this adult case occurring during pregnancy with a novel translocation involving chromosome 19 followed an indolent clinical course.

No MeSH data available.


Related in: MedlinePlus