PMC3547807_01
Coronal reformatted computed tomography image of the initial contrast enhanced chest scan shows rim-enhancing enlarged lymphnodes left supraclavicular between the sternocleidomastoid and the scalene muscles (A, short arrow) and furthermore conglomerate-like tumors in the right upper mediastinum (A, long arrow). Histologically the lymph node shows infiltrations of a papillary adenocarcinoma (B: H&E, x100 / C: H&E, x400).
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F1
Computed tomography of neck and chest revealed multiple lesions up to 9.5 cm in diameter in the left supraclavicular region as well as in the mediastinum (Figure 1A). Based on a supraclavicular lymph node biopsy the diagnosis of a papillary adenocarcinoma was confirmed (Figure 1B and C). A clinical check-up after 2 month demonstrated by thoracal and abdominal computertomography numerous suspicious mediastinal and paraaortal lymph nodes (Figure 1A and 2A) and further suspect lesions in the liver. The tumor cells displayed abundant eosinophilic cytoplasm (Figure 1B and C).
Coronal reformatted computed tomography image of the initial contrast enhanced abdominal scan shows a renal mass located in the lower pole of the left kidney, appearing inhomogeneous, predominantly less enhancing compared to the normal renal parenchyma (A). Histologically and immunohistochemically examinations of the partial nephrectomy show a tumor similar to the lymph node infiltration with an increased proliferation (B: H&E, x100 / C: Ki67 immunostaining, x100).
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F2
In the following abdominal sonography and contrast-enhanced abdominal computertomography identified a 4 cm in diameter inhomogeneous mass in the lower pole of the left kidney (Figure 2A) as well as numerous enlarged paraaortal lymph nodes. A clinical check-up after 2 month demonstrated by thoracal and abdominal computertomography numerous suspicious mediastinal and paraaortal lymph nodes (Figure 1A and 2A) and further suspect lesions in the liver. In addition the tumor showed a proliferation rate of 80% by Ki67 staining (Figure 2B and C).
The family pedigree with the described patient (denoted by black arrow) and her mother, who also died of renal cell carcinoma.
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F3
No further cases of RCC have been reported in the patient's family (Figure 3).
Chromatograms of mutation analysis in FH exon. A: Heterozygous mutation (black arrow) c.539A>G (CAT CGT), p.His180Arg in exon 4 of the FH-gene. B: Wild type sequence
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F4
The subsequent analysis of the FH gene revealed a missense mutation (c.539A > G) leading to amino acid substitution H180R at the protein level (Figure 4).