Primitive neuroectodermal tumor of the kidney confirmed by fluorescence in situ hybridization

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  • CASE REPORT

    Primitive neuroectodermal tumor of the kidney confirmed byfluorescence in situ hybridization

    SEIICHI KATO1, TOSHIMI TAKEUCHI1, TOMONARI ASANO1, YOSHIHITO BAN1,

    TETSUYA YAMADA2, TADASHI HASEGAWA3 & NAOKI YAMAMOTO4

    1Department of Urology and 2Central Laboratory, Gifu Municipal Hospital, Gifu-ken, Japan, 3Department of Surgical

    Pathology, School of Medicine, Sapporo Medical University, Sapporo, Japan, and 4Department of Urology, Gifu University

    Hospital, Gifu-ken, Japan

    AbstractWe report a rare case of primitive neuroectodermal tumor of the kidney. The diagnosis was confirmed by theimmunohistochemical profile and fluorescence in situ hybridization in formalin-fixed, paraffin-embedded tissues. Thepatient received intensive chemoradiotherapy after radical surgery and remains alive without recurrence 1 year after initialpresentation.

    Key Words: Primitive neuroectodermal tumor, kidney

    Introduction

    We present a rare case of renal primitive neuroecto-

    dermal tumor (PNET) which occurred in an adult.

    The diagnosis was confirmed by the detection of a

    Ewings sarcoma (EWS) rearrangement. The patient

    received intensive chemoradiotherapy after radical

    surgery and remains alive without recurrence 1 year

    after initial presentation.

    Case report

    A 33-year-old female with no significant previous

    medical history presented with right flank pain and

    fever. Physical examination and routine laboratory

    data were unremarkable. CT revealed a 8.0/8.0 cm2 mass in the inferior portion of the right

    kidney. The mass exhibited an homogeneous mini-

    mal enhancement with slightly higher attenuation

    than the skeletal muscle (Figure 1). The patient

    underwent a right radical nephrectomy. A periopera-

    tive examination showed that there was no involve-

    ment between the tumor and neighboring organs or

    the renal vein.

    Histological examination showed the tumor to

    be composed of small cells with uniform round

    nuclei and minimal cytoplasm forming many

    HomerWright pseudorosettes (Figure 2A). Immu-nohistochemically, the tumor exhibited expression of

    vimentin, neuron-specific enolase and CD99 but no

    expression of desmin, alpha-smooth muscle actin,

    Correspondence: Naoki Yamamoto, MD, Department of Urology, Gifu University Hospital, 1-1 Yanaido-Gifu-shi, Gifu-ken 501-1194, Japan. Fax: /58 2306339. E-mail: yamanao@cc.gifu-u.ac.jp

    Figure 1. A CT scan revealed a solid tumor in the lower pole of

    the right kidney. The tumor was slightly enhanced.

    Scandinavian Journal of Urology and Nephrology, 2007; 41: 7576

    (Received 7 March 2006; accepted 28 April 2006)

    ISSN 0036-5599 print/ISSN 1651-2065 online # 2007 Taylor & FrancisDOI: 10.1080/00365590601135832

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  • muscle-specific actin, pan-cytokeratin, epithelial

    membrane antigen, S-100, CD34 or KIT/CD117

    (Figure 2B). Interphase fluorescence in situ hybri-

    dization (FISH) on routinely formalin-fixed, paraf-

    fin-embedded tissues using a commercially available

    EWSR1 (22q12) dual-color, break-apart rearrange-

    ment probe indicated the presence of t(11;22),

    confirming the diagnosis of PNET (Figure 2C).

    The patient received irradiation to the renal bed in

    conjunction with chemotherapy (cisplatinum and

    etoposide). The patient remains alive without evi-

    dence of recurrence 1 year after initial presentation.

    Discussion

    EWS/PNET usually occurs in soft tissues but

    occasionally arises within visceral organs. Recently,

    EWS and PNET have been considered to be the

    same disease entity according to the WHO classifi-

    cation.

    EWS/PNET often shows a morphologic overlap

    with other small, blue, round-cell tumors, therefore

    necessitating immunohistochemical analyses. In

    some cases these may be difficult to interpret,

    although expression of CD99 has been helpful in

    confirming the diagnosis of EWS/PNET [1].

    EWS/PNET is characterized by non-random

    chromosomal translocations involving the EWS

    gene. The translocation t(11;22)(q24;q12) is the

    commonest and leads to formation of the EWSFLI1 fusion protein. In/90% of cases, EWS/

    PNET has the t(11;22) chromosomal rearrange-

    ment. Dual-color, break-apart interphase FISH

    assays provide a highly specific and sensitive method

    for identifying chromosome 22 rearrangements that

    can definitively establish the diagnosis of PNET/

    EWS. We could detect this rearrangement by means

    of FISH using formalin-fixed, paraffin-embedded

    tissues. These translocations are detectable not only

    in this way but also with reverse transcriptase-

    polymerase chain reaction (RT-PCR). However,

    RT-PCR is less sensitive in formalin-fixed, paraffin-

    embedded tissue than in frozen tissue. When only

    paraffin blocks are available, FISH is the method of

    choice [2].

    Renal PNET is more aggressive than when PNET

    occurs at other sites. The optimal therapeutic

    management is unclear, but in general the tumor is

    best treated with surgery followed by radiotherapy

    and chemotherapy. The chemotherapeutic regimen

    warrants continuing development and consideration

    for use in future trials [1].

    References

    [1] Ruszat R, Casella R, Bachmann A, Gasser TC, Sulser T.

    Primitive neuroectodermal tumor of the kidney with hyaline

    cells. Urol Int 2005;/75:/1846.[2] Surace C, Storlazzi CT, Engellau J, Domanski HA, Gustafson

    P, Panagopoulos I, et al. Molecular cytogenetic characteriza-

    tion of an ins(4;X) occurring as the sole abnormality in an

    aggressive, poorly differentiated soft tissue sarcoma. Virchows

    Arch 2005;/447:/86974.

    Figure 2. (A) The tumor was composed of small cells with uniform round nuclei and minimal cytoplasm forming many HomerWrightpseudorosettes. (B) The tumor cells showed diffuse and strong membranous staining for CD99. (C) The tumor cells showed one fused, one

    orange and one green signal pattern (arrows) , indicating a rearrangement in one copy of the EWSR1 region.

    76 S. Kato et al.

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