Clear Cell Sarcoma of the Kidney: A Remarkably Uncommon Case Report

Yıl 2023, Cilt: 45 Sayı: 6, 995 - 999, 24.10.2023

Emel Tekin , Osman Furkan Mülkem , Ersin Töret

https://doi.org/10.20515/otd.1265819

Öz

Clear cell sarcoma of the kidney (CCSK) is one of the most common malignant renal neoplasms in childhood, although it is quite rare. Its incidence peaks around the age of 3 and it is twice as common in males. We present a rare case of CCSK showing a rare histopathological pattern in terms of age and gender. A 7-month-old female patient presented with complaints of vomiting, abdominal swelling, and diarrhea. Imaging analysis revealed a mass in the right kidney, and right radical nephrectomy was performed, considering Wilms tumor (WT). There was a solid gray-white mass that completely filled the kidney, with a maximum dimension of 8.5 cm, macroscopically. The samples obtained showed intratubular structures within the tumor and kidney parenchyma in limited areas at the periphery. The tumor had a normochromic monotonous nucleus with occasional clear cytoplasm and mostly exhibited a palisade-like arrangement pattern. In the differential diagnosis, with blastemal WT and Ewing sarcoma being the primary considerations, the positivity of CyclinD1 markers, negativity of other markers, and morphological characteristics were evaluated in favor of CCSK with a palisaded Schwannian pattern. The patient was put on an intensive chemotherapy process, but was lost after relaps at weet 24. CCSK is seen in a similar age group as WT but is distinguished by its rarity and relatively worse prognosis. Histopathologically, it most commonly presents in a myxoid pattern and least commonly in anaplastic pattern. The palisaded schwannian type seen in our case is recorded at a rate of 11%. No spesific diagnostic marker has been identified immunohistochemically, but the overexpression of markers such as CyclinD1, BCOR, and EZH2 is reported to be helpful in diagnosis. Due to its high metastatic potential and limited treatment options, further research is needed to understand the molecular nature of the disease.

Anahtar Kelimeler

Clear cell sarcoma of the kidney, Case report, Rare tumor of the childhood, Malignant renal tumor of the childhood

Böbreğin Berrak Hücreli Sarkomu: Oldukça Nadir Bir Olgu Sunumu

Öz

Böbreğin berrak hücreli sarkomu (BBHS) oldukça nadir görülmekle birlikte çocukluk çağının en sık görülen malign böbrek neoplazilerinden biridir. İnsidansı 3 yaş civarında pik yapmakta olup erkek cinsiyette 2 kat daha sık görülmektedir. Nadir bir yaş ve cinsiyette nadir bir histopatolojik patern gösteren BBHS olgusu sunduk. 7 aylık kız hasta kusma, karında şişlik ve ishal şikayeti ile başvurdu. Yapılan görüntüleme analizinde sağ böbrekte kitle saptanması üzerine Wilms tümörü (WT) düşünülerek sağ radikal nefrektomi uygulandı. Makroskopik olarak en büyük boyutu 8,5 cm olan böbreğin tamamını dolduran solid gri-beyaz kitle mevcuttu. Alınan örneklerde tümör içerisinde entrape tübül yapıları ve periferde sınırlı alanlarda böbrek parankimi seçilmekteydi. Tümör normokromatik monoton nükleuslu yer yer şeffaf sitoplazmalı ve çoğunlukla palizat benzeri dizilim paterninde idi. Ayırıcı tanıda başta blastemal WT ve Ewing sarkomu da düşünülerek yapılan belirteçlerden SiklinD1 pozitifliği, diğer markırların negatifliği ve morfolojik özellikleri ile olgu palizatlanan schwannian paternde BBHS lehine değerlendirildi. Olgu yoğun kemoterapi sürecine alındı ancak 24. hafta relaps sonrası kaybedildi. BBHS, WT ile benzer yaş grubunda görülmekle birlikte oldukça nadir olması ve nispeten daha kötü prognozlu olması ile ayrılmaktadır. Histopatolojik olarak en sık miksoid, en az anaplastik paternde karşımıza çıkmaktadır. Olgumuzda görülen palizatlanan schwannian tip ise %11 oranında kaydedilmiştir. İmmunohistokimyasal olarak spesifik tanı koydurucu bir belirteç henüz tanımlanmamış olup SiklinD1, BCOR, EZH2 gibi markırların overekspresyonunun tanıya yardımcı olduğu bildirilmektedir. Metastaz potansiyeli yüksek ve tedavi alternatifi kısıtlı olması nedeni ile hastalığın moleküler doğasını anlamak için yeni araştırmalara ihtiyaç vardır.

Anahtar Kelimeler

Böbreğin şeffaf hücreli sarkomu, olgu sunumu, Çocukluk çağının nadir tümörü, çocukluk çağı malign böbrek tümörü

Kaynakça

• 1. Gooskens SL, Furtwängler R, Vujanic GM, Dome JS, Graf N, van den Heuvel-Eibrink MM. Clear cell sarcoma of the kidney: a review. European Journal of Cancer. 2012;48(14):2219-26.
• 2. Pastore G, Znaor A, Spreafico F, Graf N, Pritchard-Jones K, Steliarova-Foucher E. Malignant renal tumours incidence and survival in European children (1978–1997): report from the Automated Childhood Cancer Information System project. European journal of cancer. 2006;42(13):2103-14.
• 3. Gao H, Cheng Q-Y, Zhao Q, Tao L-X, Zhang C. Childhood clear cell sarcoma of kidney: incidence and survival. Frontiers in Pediatrics. 2021;9:675373.
• 4. Marsden H, Lawler W. Bone-metastasizing renal tumour of childhood. British Journal of Cancer. 1978;38(3):437-41.
• 5. Zhuge Y, Cheung MC, Yang R, Perez EA, Koniaris LG, Sola JE. Pediatric non-Wilms renal tumors: subtypes, survival, and prognostic indicators. Journal of Surgical Research. 2010;163(2):257-63.
• 6. Aldera AP, Pillay K. Clear cell sarcoma of the kidney. Archives of Pathology & Laboratory Medicine. 2020;144(1):119-23.
• 7. Beckwith J, Palmer N. Histopathology and prognosis of Wilms tumor Results from the first national wilms' tumor study. Cancer. 1978;41(5):1937-48.
• 8. Argani P, Perlman EJ, Breslow NE, Browning NG, Green DM, D'Angio GJ, et al. Clear cell sarcoma of the kidney: a review of 351 cases from the National Wilms Tumor Study Group Pathology Center. The American journal of surgical pathology. 2000;24(1):4.
• 9. Aw SJ, Chang KTE. Clear cell sarcoma of the kidney. Archives of Pathology & Laboratory Medicine. 2019;143(8):1022-6.
• 10. Mehra B, Thwait A, Govil A, Gupta D, Narang R. Clear cell sarcoma of kidney: A rare bone metastasizing tumour of children. J MGIMS. 2006;11:51-2.
• 11. Lool L-M, Cheah P-L. An immunohistochemical study comparing clear cell sarcoma of the kidney and Wilms' tumor. Pathology. 1993;25(2):106-9.
• 12. Mirkovic J, Calicchio M, Fletcher CD, Perez‐Atayde AR. Diffuse and strong cyclin D1 immunoreactivity in clear cell sarcoma of the kidney. Histopathology. 2015;67(3):306-12.
• 13. Wong MK, Ng CC, Kuick CH, Aw SJ, Rajasegaran V, Lim JQ, et al. Clear cell sarcomas of the kidney are characterised by BCOR gene abnormalities, including exon 15 internal tandem duplications and BCOR–CCNB 3 gene fusion. Histopathology. 2018;72(2):320-9.
• 14. Karlsson J, Valind A, Jansson C, O'Sullivan MJ, Mengelbier LH, Gisselsson D. Aberrant epigenetic regulation in clear cell sarcoma of the kidney featuring distinct DNA hypermethylation and EZH2 overexpression. Oncotarget. 2016;7(10):11127.
• 15. Gooskens S, Graf N, Furtwangler R. International Society of Paediatric Oncology-Renal Tumour Study Group (SIOP-RTSG). Position paper: rationale for the treatment of children with CCSK in the UMBRELLA SIOP-RTSG. 2016.
• 16. Gooskens S, Furtwängler R, Spreafico F, van Tinteren H, de Kraker J, Vujanic GM, et al. Treatment and outcome of patients with relapsed clear cell sarcoma of the kidney: a combined SIOP and AIEOP study. British journal of cancer. 2014;111(2):227-33.