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World J Clin Cases 2020 Jun;8(11):2332-2338

Department of Surgical Oncology, The Children's Hospital, Zhejiang University School of Medicine, National Clinical Research Center for Child Health, Hangzhou 310053, Zhejiang Province, China.

Background: Transcatheter arterial chemoembolization (TACE) is a common treatment for inoperable malignant renal tumors. However, a series of complications may follow the TACE treatment. Spinal cord injury caused by the embolization of intercostal or lumbar arteries is extremely rare. Read More

Pract Lab Med 2020 Aug 16;21:e00164. Epub 2020 May 16.

Department of Pathology, Stanford University School of Medicine, Stanford, CA, USA.

Objectives: To identify oncogenic driver mutations in congenital mesoblastic nephroma (CMN) cases lacking - fusion and discuss their diagnostic value.

Design: The institutional pathology database was queried for cases with a morphologic diagnosis of CMN. Cases positive for rearrangement or with unavailable blocks were excluded. Read More

Mod Pathol 2020 May 5. Epub 2020 May 5.

Department of Pathology, Hospital Bambino Gesu, Rome, Italy.

Until recently, undifferentiated round cell sarcomas (URCS) in infants have been considered a wastebasket diagnosis, composed of various pathologic entities and lacking consistent genetic alterations. The recent identification of recurrent BCOR internal tandem duplications (ITD) and less common alternative YWHAE-NUTM2B/E fusions in half of infantile URCS and the majority of so-called primitive myxoid mesenchymal tumors of infancy (PMMTI) suggests a common pathogenesis with clear cell sarcoma of the kidney which also harbors the same genetic alterations. These tumors also share a similar morphology and immunoprofile, including positivity for BCOR, cyclin D1, and SATB2. Read More

Int J Clin Exp Pathol 2020 1;13(4):771-777. Epub 2020 Apr 1.

Department of Pathology, The First Affiliated Hospital of Bengbu Medical College, Bengbu Medical College Bengbu, Anhui, P. R. China.

Background: Clear cell sarcoma of the kidney (CCSK) is a rare malignant tumor in children with uncertain histologic and immunohistologic traits. It mostly reveals atypical clinical symptoms similar to other familiar pediatric renal neoplasms, including abdominal mass, abdominal pain, hematuria, etc. Therefore, the lack of specificity in clinical symptoms may induce some challenging and controversial diagnoses. Read More

J Clin Pathol 2020 Jun 11;73(6):314-317. Epub 2020 Mar 11.

Anatomical Pathology, University of Cape Town, Cape Town, South Africa.

BCL-6 transcriptional corepressor () gene is located at Xp11.4 and encodes a protein which is involved in transcriptional repression in association with BCL-6 and epigenetic silencing through polycomb repressive complex 1 (PRC1). mutations are being identified in an increasing number of tumours which are diverse in their anatomical location and clinical setting. Read More

J Pediatr Hematol Oncol 2020 May;42(4):251-255

Children's Cancer Center, National Center for Child Health and Development, Tokyo, Japan.

Background: Almost all pediatric patients with renal tumors are diagnosed with nephroblastoma (Wilms tumor), clear cell sarcoma, or malignant rhabdoid tumor. The choice of treatment is important for relapsed and refractory patients with nephroblastoma. Furthermore, clear cell sarcoma of the kidney (CCSK) and malignant rhabdoid tumor of the kidney (MRTK) have a poor prognosis compared with nephroblastoma. Read More

Res Rep Urol 2019 13;11:311-317. Epub 2019 Nov 13.

Oncology Practice, Hyatt Medical Center, Amman, Jordan.

Several case reports have provided most of the information available on perivascular epithelioid cell tumors, but with no consensus regarding diagnosis or treatment paradigms. Sunitinb is a VEGFR multitargeted tyrosine-kinase inhibitor that is regarded as a first-line treatment of clear cell-type metastatic renal-cell carcinoma after cytoreductive surgery. Our case was a 29-year-old male who presented with a metastatic left renal tumor and underwent left partial nephrectomy followed by adjuvant tyrosine kinase-inhibitor treatment. Read More

Pediatr Blood Cancer 2020 04 26;67(4):e28151. Epub 2019 Dec 26.

Section of Hematology/Oncology, Department of Pediatrics, Texas Children's Hospital/Baylor College of Medicine, Houston, Texas.

Clear cell sarcoma of the kidney (CCSK) is the second most common malignant pediatric renal tumor. Two of the recurrent somatic alterations reported in CCSK are BCL-6 corepressor (BCOR) internal tandem duplication (ITD) and YWHAE-NUTM2B/E gene fusion. A minority of patients with CCSKs have other rare somatic alterations. Read More

Int J Surg Pathol 2020 Aug 26;28(5):477-481. Epub 2019 Dec 26.

Shaukat Khanum Memorial Cancer Hospital and Research Centre, Lahore, Pakistan.

. Clear cell sarcoma of the kidney (CCSK) is an uncommon malignant renal tumor. It is the second most common renal pediatric renal malignancy after Wilms tumor. Read More

Anat Rec (Hoboken) 2019 Nov 18. Epub 2019 Nov 18.

Centre for Cancer Research, Hudson Institute of Medical Research, Clayton, Victoria, Australia.

Despite the rarity of renal tumors in children, many different types of malignant and nonmalignant renal neoplasms have been described. Therefore, the correct diagnosis and clinical management of these patients can represent a challenge. Here we provide a comprehensive review of the commonly diagnosed pediatric renal malignancies, including nephroblastoma (commonly known as Wilms tumor), clear cell sarcoma of the kidney, rhabdoid tumor of the kidney, several subtypes of renal cell tumors (often collectively termed renal cell carcinoma), and congenital mesoblastic nephroma. Read More

BMC Cancer 2019 Nov 1;19(1):1034. Epub 2019 Nov 1.

Department of Pathology, The First Hospital and College of Basic Medical Sciences, China Medical University, No. 155 Nanjing North Street, Shenyang, 110001, China.

Background: Clear cell sarcoma of the kidney (CCSK) is the second most common renal tumor in children following Wilms' tumor. CCSK is extremely rare in adults, with only 25 adult cases reported in the medical literature.

Case Presentation: We reported a 62-year-old man with a right renal mass presenting only with generalized pruritus who underwent radical right nephrectomy. Read More

Zhonghua Bing Li Xue Za Zhi 2019 10;48(10):799-801

Department of Pathology, Children's Hospital of Fudan University, Shanghai 201102, China.

Clin Hemorheol Microcirc 2019 ;73(1):157-167

Centre of Plastic, Aesthetic, Hand and Reconstructive Surgery, University of Regensburg, Regensburg, Germany.

Background: Doxorubicin is a cytostatic drug from the group of anthracycline antibiotics that is widely used as a chemotherapeutic agent. Side effects of the active substance include cardiotoxicity and nephrotoxicity. Doxorubicin-treated renal epithelial cells and (sarcoma) tumors are examined by correlative light and electron microscopy (CLEM) to investigate the subcellular localization of doxorubicin. Read More

G Chir 2019 May-Jun;40(3):217-224

Clear cell sarcoma of the kidney is an uncommon renal neopla sm of childhood. It represents about 4% of childhood malignant neoplasms and is generally more common in children under 5 years of age. In the present article, we describe the case of a 12-year-old male patient who came to our observation with left renal mass and with a clinical-laboratory picture indicative of inflammatory pathology. Read More

Pathologe 2019 Nov;40(6):600-608

Kindertumorregister der GPOH, Sektion Kinderpathologie, Institut für Pathologie, Universitätsklinikum SH, Campus Kiel, Arnold-Heller-Str. 10, Haus 4, 24105, Kiel, Deutschland.

Pediatric kidney tumors are rare and account for about 6% of all childhood malignancies. By far the most common tumors are nephroblastomas. This review presents rare childhood renal tumors. Read More

Ann Pathol 2019 Dec 27;39(6):399-413. Epub 2019 Jun 27.

Département de biopathologie, institut Bergonie, 33000 Bordeaux, France; Université de Bordeaux, 33400 Talence, France; Inserm U1218, ACTION, 33000 Bordeaux, France. Electronic address:

BAF complexes are chromatin remodelling complexes made up of 15 subunits which overview transcription regulation. A subset of their subunits are notoriously linked to cancer, with the examples of SMARCB1, SMARCA4, ARID1A/1B and PBRM1. The complexes act as tumor suppressor genes, commonly mutated in a wide array of malignancies with an overrepresentation of sarcomas and tumors of the central nervous system. Read More

Epigenomics 2019 05 31;11(7):835-855. Epub 2019 May 31.

Pediatric Oncology & Hematology Unit 'Lalla Seràgnoli', S Orsola-Malpighi Hospital, 40138 Bologna, Italy.

 is a gene that encodes for an epigenetic regulator involved in the specification of cell differentiation and body structure development and takes part in the noncanonical polycomb repressive complex 1. This review provides a comprehensive summary of BCOR's involvement in oncology, illustrating that various aberrations, such as the internal tandem duplications of the PCGF Ub-like fold discriminator domain and different gene fusions (mainly ), represent driver elements of various sarcomas such as clear cell sarcoma of the kidney, primitive mesenchymal myxoid tumor of infancy, small round blue cell sarcoma, endometrial stromal sarcoma and histologically heterogeneous CNS neoplasms group with similar genomic methylation patterns known as CNS-HGNET-BCOR. Furthermore, other alterations (often loss of function mutations) recur in a large variety of mesenchymal, epithelial, neural and hematological tumors, suggesting a central role in cancer evolution. Read More

Ultrasound Med Biol 2019 08 7;45(8):2205-2212. Epub 2019 May 7.

Department of Radiology, Severance Hospital, Research Institute of Radiological Science, Yonsei University College of Medicine, Seoul, South Korea. Electronic address:

We assessed the feasibility of texture analysis to differentiate Wilms tumor, clear cell sarcoma and rhabdoid tumor of the kidney in children using gray-scale ultrasonography images. Children who had pre-operative renal ultrasonography images of the three tumors from January 2002 to February 2017 were retrospectively included as the test set, and children with the same criteria from March 2017 to December 2018 were included as the validation set. From histogram and second-order statistics, features were compared between the tumors, and diagnostic performances were assessed. Read More

Ci Ji Yi Xue Za Zhi 2019 Apr-Jun;31(2):129-132

Department of Pathology, Ditmanson Medical Foundation, Chiayi Christian Hospital, Chiayi, Taiwan.

We present a case of a 22-year-old female with gross hematuria for 1 month. A 9.5-cm tumor was found at her left kidney. Read More

Arch Pathol Lab Med 2020 01 27;144(1):119-123. Epub 2019 Mar 27.

From the Division of Anatomical Pathology, University of Cape Town, Cape Town, and the National Health Laboratory Service, Western Cape, South Africa (Drs Aldera and Pillay); the Department of Anatomical Pathology, Groote Schuur Hospital, Western Cape, South Africa (Dr Aldera); and the Department of Anatomical Pathology, Red Cross War Memorial Children's Hospital, Cape Town, South Africa (Dr Pillay).

Clear cell sarcoma of the kidney is an uncommon malignant pediatric renal neoplasm that typically presents in the 2- to 3-year age group and has a propensity for aggressive behavior and late relapses. Histologically, this tumor exhibits a great diversity of morphologic patterns that can mimic most other pediatric renal neoplasms, often leading to confusion and misdiagnosis. Until recently, adjunct immunohistochemical and molecular genetic tests to support the diagnosis were lacking. Read More

Magn Reson Imaging Clin N Am 2019 May;27(2):279-290

Department of Radiology, Seattle Children's, University of Washington, 4800 Sand Point Way Northeast, Seattle, WA 98105, USA.

Pediatric renal tumors may be malignant or benign. Wilms tumor, the most common malignant pediatric renal tumor, arises sporadically or with various syndromes. Renal cell carcinoma typically presents in older children. Read More

Am J Surg Pathol 2019 06;43(6):773-782

Department of Pathology, Memorial Sloan Kettering Cancer Center, New York, NY.

BCOR immunoreactivity is a sensitive and highly specific marker for clear cell sarcoma of the kidney (CCSK). However, a subset of adult renal sarcomas which overexpress BCOR are negative for BCOR genetic alterations, including BCOR gene fusions or BCOR-internal tandem duplication, and thus remain unclassified. We report 5 such undifferentiated renal/perirenal sarcomas which raised the differential diagnosis of CCSK due to their morphologic appearance and strong BCOR immunoreactivity, but which on RNA sequencing proved to be malignant solitary fibrous tumors (SFTs). Read More

Pediatr Blood Cancer 2019 06 13;66(6):e27627. Epub 2019 Feb 13.

Department of Cellular Pathology, University Hospital of Wales, Cardiff, UK.

Introduction: The International Society of Paediatric Oncology (SIOP) protocols recommend preoperative chemotherapy appropriate for Wilms tumors (WTs) in children with renal tumors aged ≥6 months, reserving biopsy for "atypical" cases. The Children's Cancer and Leukaemia Group (CCLG) joined the SIOP-WT-2001 study but continued the national practice of biopsy at presentation.

Method: Retrospective study of concordance between locally reported renal tumor biopsies and central pathology review nephrectomy diagnoses of children enrolled by CCLG centers in the SIOP-WT-2001 study. Read More

Pediatr Blood Cancer 2019 06 12;66(6):e27641. Epub 2019 Feb 12.

Imaging Department, Institut Curie, Paris, France.

Objectives: According to the Renal Tumor Study Group (RTSG) of the International Society of Paediatric Oncology (SIOP), diagnostic biopsy of renal tumors prior to neoadjuvant chemotherapy is not mandatory unless the presentation is atypical for a Wilms tumor (WT). This study addresses the relevance of this strategy as well as the accuracy and safety of image-guided needle biopsy.

Methods: Clinical, radiological, and pathological data from 317 children (141 males/176 females, mean age: 4 years, range, 0-17. Read More

Diagn Pathol 2019 Feb 8;14(1):13. Epub 2019 Feb 8.

Department of Pathology and Laboratory Medicine, Aga Khan University Hospital, Karachi, Pakistan.

Background: Clear cell sarcoma of the kidney (CCSK) is a rare malignant pediatric renal neoplasm with a heterogeneous histological appearance which often results in misdiagnosis. There are no specific immunohistochemical markers which can help in differentiating CCSK from other pediatric renal neoplasms. Recently Cyclin D1 has been investigated as a possible marker in this regard. Read More

Arch Pathol Lab Med 2019 08 10;143(8):1022-1026. Epub 2019 Jan 10.

From the Department of Pathology and Laboratory Medicine, KK Women's and Children's Hospital, Singapore, Republic of Singapore.

Clear cell sarcoma of the kidney is the second most common primary renal malignancy in childhood. It is histologically diverse, making accurate diagnosis challenging in some cases. Recent molecular studies have uncovered exon 15 internal tandem duplications in most cases, and fusion in a few cases, with the remaining cases having other genetic mutations, including fusion and mutations. Read More

BMJ Case Rep 2018 Dec 9;11(1). Epub 2018 Dec 9.

Department of Urology, Tallaght Hospital, Dublin, Ireland.

We report the first case of a synchronous ipsilateral primitive neuroectodermal tumour (PNET) and clear cell renal cell carcinoma of the kidney. A 37-year-old man presented to the emergency department with a 24-hour history of colicky abdominal pain and visible haematuria. He had no relevant surgical or medical history. Read More

Case Rep Pathol 2018 16;2018:3462096. Epub 2018 Oct 16.

Department of Pathology, SUNY Upstate Medical University, 750 East Adams Street, Syracuse, NY 13210, USA.

Clear cell sarcoma of the kidney (CCSK) is an uncommon malignant tumor of uncertain histogenesis that occurs most commonly in childhood. Histologically, CCSK can mimic myxoid variant of synovial sarcoma (SS); however, the double positivity for CD99 and TLE1 in SS helps in excluding CCSK. Herein, we report a rare case of CCSK arising in the left kidney of a 3-year-old girl. Read More

J Pediatr Surg 2019 Mar 2;54(3):550-556. Epub 2018 Oct 2.

Department of Radiology, The Children's Hospital, Zhejiang University School of Medicine, No. 3333 Binsheng Road, 310052 Hangzhou, China. Electronic address:

Background: Clear cell sarcoma of the kidney (CCSK) is a rare and aggressive malignant renal tumor. We describe our experience with neoadjuvant transcatheter arterial chemoembolization (TACE) and systematic chemotherapy for the treatment of advanced CCSK in children.

Methods: Between January 2010 and December 2016, seven patients (3 boys and 4 girls; median 2. Read More

Pediatr Blood Cancer 2019 01 25;66(1):e27450. Epub 2018 Sep 25.

Department of Epidemiology and Cancer Control, St Jude Children's Research Hospital, Memphis, Tennessee.

Purpose: To improve the event-free survival (EFS) and overall survival (OS) for patients with clear cell sarcoma of the kidney (CCSK) by incorporating cyclophosphamide and etoposide into treatment on National Wilms Tumor Study (NWTS)-5.

Patients And Methods: Patients less than 16 years of age with a centrally confirmed pathological diagnosis of CCSK were eligible for treatment on this prospective single-arm study conducted between August 1995 and June 2002. Staging consisted of CT scans of chest, abdomen, pelvis, bone scan, skeletal survey, and CT or MRI of the head. Read More

J Pediatr Urol 2018 12 1;14(6):571.e1-571.e6. Epub 2018 Aug 1.

Department of Radiology, The First Affiliated Hospital, Sun Yat-sen University, 58th, The Second Zhongshan Road, Guanzhou, China. Electronic address:

Introduction: Congenital mesoblastic nephroma (CMN) is a common solid renal tumor in the neonate. Congenital mesoblastic nephroma can be divided into classic, cellular, and mixed types. The prognosis of CMN is very optimistic. Read More

Genes Chromosomes Cancer 2018 10 20;57(10):525-529. Epub 2018 Aug 20.

Department of Pediatric Hematology and Oncology Research, National Research Institute for Child Health and Development, Tokyo, Japan.

Clear cell sarcoma of the kidney (CCSK) is the second most common renal malignancy in children. The prognosis is poorer in CCSK than in Wilms' tumor, and multimodal treatment including surgery, intensive chemotherapy, and radiation is required to improve the outcome for children with CCSK. Histological evaluation is required for the diagnosis. Read More

Urology 2018 Oct 1;120:222-230. Epub 2018 Aug 1.

University of Colorado, Department of Surgery, Division of Urology; Children's Hospital Colorado, Aurora, CO. Electronic address:

Objective: To identify factors impacting overall survival (OS) in children, adolescents, and young adults with high-risk renal tumors (HRRTs).

Methods: The National Cancer Database was queried for patients ≤30 years old diagnosed with anaplastic Wilms tumors (AWT), clear cell sarcoma of the kidney (CCSK), or rhabdoid tumor of the kidney (RTK) between 2004 and 2013. Demographic, clinical, and OS data were abstracted. Read More

Nat Commun 2018 06 18;9(1):2378. Epub 2018 Jun 18.

Wellcome Trust Sanger Institute, Hinxton, CB10 1SA, UK.

Soft tissue tumors of infancy encompass an overlapping spectrum of diseases that pose unique diagnostic and clinical challenges. We studied genomes and transcriptomes of cryptogenic congenital mesoblastic nephroma (CMN), and extended our findings to five anatomically or histologically related soft tissue tumors: infantile fibrosarcoma (IFS), nephroblastomatosis, Wilms tumor, malignant rhabdoid tumor, and clear cell sarcoma of the kidney. A key finding is recurrent mutation of EGFR in CMN by internal tandem duplication of the kinase domain, thus delineating CMN from other childhood renal tumors. Read More

Am J Surg Pathol 2018 08;42(8):1128-1131

Department of Pathology, Memorial Sloan Kettering Cancer Center New York NY.

Pediatr Blood Cancer 2018 07 6;65(7):e27056. Epub 2018 Apr 6.

Osaka Women's and Children's Hospital, Izumi, Japan.

Background: Japan Wilms Tumor Study-2 (JWiTS-2) mandated central pathology review for all case registrations. The study aimed to compare the outcomes of patients with unilateral Wilms tumor enrolled on the JWiTS-1 and JWiTS-2 trials.

Procedure: The JWiTS-2 trial (2006-2014), a prospective, single-arm study, required compulsory submission of histologic slides to central pathology, while in the JWiTS-1 trial, such submission was not compulsory. Read More

North Clin Istanb 2018 18;5(1):60-63. Epub 2018 Jan 18.

Department of Pediatric Hematology and Oncology, Eskisehir Osmangazi Universitiy Faculty of Medicine, Eskisehir, Turkey.

Clear cell sarcoma of the kidney (CCSK) is an uncommon renal neoplasm of childhood. It represents between 2% and 9% of all pediatric renal tumors, and generally arises before the age of 5 years. It often mimics other pediatric renal tumors. Read More

Pediatr Blood Cancer 2018 05 7;65(5):e26975. Epub 2018 Feb 7.

Fetal Pediatr Pathol 2018 Apr 6;37(2):126-133. Epub 2018 Mar 6.

a Lauren V. Ackerman Laboratory of Surgical Pathology, Barnes-Jewish Hospital/St. Louis Children's Hospital , Washington University Medical Center , St. Louis , Missouri , USA.

Introduction: Clear cell sarcoma of the kidney (CCSK) is childhood neoplasm with its own distinctive pattern of metastasis and may appear after a disease free interval of 5 years or more.

Materials And Methods: Histopathology and immunohistochemistry were available from the radical nephrectomy and the later partial cystectomy, which was performed after a seven disease-free interval.

Results: The pathologic features of the primary tumor were those of a classic CCSK with a monotypic pattern of uniform rounded to ovoid tumor cells with a background network of delicate blood vessels. Read More

Nat Rev Urol 2018 05 27;15(5):309-319. Epub 2018 Feb 27.

Department of Paediatric Oncology, Princess Máxima Center for Paediatric Oncology, Utrecht, Netherlands.

The International Society of Paediatric Oncology-Renal Tumour Study Group (SIOP-RTSG) has developed a new protocol for the diagnosis, treatment, and follow-up monitoring of childhood renal tumours - the UMBRELLA SIOP-RTSG 2016 protocol (the UMBRELLA protocol). This protocol has been designed to continue international collaboration in the treatment of childhood renal tumours and will be implemented in over 50 different countries. Clear cell sarcoma of the kidney, which is a rare paediatric renal tumour that most commonly occurs in children between 2 and 4 years of age, is specifically addressed in the UMBRELLA protocol. Read More

J Pathol 2018 03 23;244(3):334-345. Epub 2018 Jan 23.

School of Medicine, University of Dublin, Trinity College, Dublin, Ireland.

The oncogenic mechanisms and tumour biology underpinning clear cell sarcoma of the kidney (CCSK), the second commonest paediatric renal malignancy, are poorly understood and currently, therapy depends heavily on doxorubicin with cardiotoxic side-effects. Previously, we characterized the balanced t(10;17)(q22;p13) chromosomal translocation, identified at that time as the only recurrent genetic aberration in CCSK. This translocation results in an in-frame fusion of the genes YWHAE (encoding 14-3-3ϵ) and NUTM2, with a somatic incidence of 12%. Read More

Brain Pathol 2018 09 28;28(5):710-720. Epub 2017 Dec 28.

Department of Human Pathology, Gunma University Graduate School of Medicine, Maebashi, Japan.

Central nervous system high-grade neuroepithelial tumors with BCOR alteration (CNS HGNET-BCOR) are a recently reported rare entity, identified as a small fraction of tumors previously institutionally diagnosed as so-called CNS primitive neuroectodermal tumors. Their genetic characteristic is a somatic internal tandem duplication in the 3' end of BCOR (BCOR ITD), which has also been found in clear cell sarcomas of the kidney (CCSK) and soft tissue undifferentiated round cell sarcomas/primitive myxoid mesenchymal tumors of infancy (URCS/PMMTI), and these BCOR ITD-positive tumors have been reported to share similar pathological features. In this study, we performed a clinicopathological and molecular analysis of six cases of CNS HGNET-BCOR, and compared them with their counterparts in the kidney and soft tissue. Read More

Indian J Med Paediatr Oncol 2017 Jul-Sep;38(3):357-359

Department of Paediatric Surgery, LTMG Hospital, Mumbai, Maharashtra, India.

Metanephric stromal tumor (MST) of kidney is an under-reported benign stromal specific renal neoplasm with good prognosis. This tumor is to be differentiated from congenital mesoblastic nephroma and clear-cell sarcoma of the kidney. In this case report, we describe the imaging, gross, and microscopic features of MST with ischemic left kidney in a 1-month-old child and discuss treatment with relevant literature. Read More

Am J Surg Pathol 2018 03;42(3):335-341

Department of Pathology, Brigham and Women's Hospital, Harvard Medical School.

Endometrial stromal sarcomas (ESSs) are mesenchymal uterine tumors characterized by recurrent genetic events, most commonly chromosomal rearrangements, that create oncogenic gene fusions. High-grade endometrial stromal sarcomas (HG-ESSs), as defined in the 2014 World Health Organization Classification, typically contain oncogenic YWHAE-NUTM2 fusions; however, although not well characterized, there are tumors morphologically overlapping with HG-ESS that do not contain the YWHAE-NUTM2 fusions. These fusions are also found in certain pediatric primitive sarcomas, including clear cell sarcoma of the kidney and soft tissue undifferentiated round cell sarcoma of infancy. Read More

Mol Oncol 2018 02 14;12(2):166-179. Epub 2017 Dec 14.

Princess Máxima Center for Pediatric Oncology, Utrecht, The Netherlands.

We recently identified hypermethylation at the gene promoter of transcription factor 21 (TCF21) in clear cell sarcoma of the kidney (CCSK), a rare pediatric renal tumor. TCF21 is a transcription factor involved in tubular epithelial development of the kidney and is a candidate tumor suppressor. As there are no in vitro models of CCSK, we employed a well-established clear cell renal cell carcinoma (ccRCC) cell line, 786-O, which also manifests high methylation at the TCF21 promoter, with consequent low TCF21 expression. Read More

Histopathology 2018 Jan 30;72(2):320-329. Epub 2017 Oct 30.

VIVA-KKH Paediatric Brain and Solid Tumour Laboratory, KK Women's and Children's Hospital, Singapore.

Aims: Clear cell sarcoma of the kidney (CCSK) is a rare paediatric renal malignant tumour. The majority of CCSKs have internal tandem duplications (ITDs) of the BCOR gene, whereas a minority have the YWHAE-NUTM2 gene fusion. A third 'double-negative' (DN) category comprises CCSKs with neither BCOR ITDs nor YWHAE-NUTM2 fusion. Read More

Am J Surg Pathol 2017 Dec;41(12):1702-1712

*Departments of Pathology and Oncology, Johns Hopkins University School of Medicine, Baltimore, MD †Department of Pathology, Shuang Ho Hospital, Taipei Medical University, Taipei, Taiwan ‡Department of Pathology, Memorial Sloan Kettering Cancer Center, New York, NY §Lab Bacchi, São Paulo, Brasil ∥University of Pittsburgh School of Medicine, Pittsburgh, PA.

We report 2 primary renal sarcomas demonstrating BCOR-CCNB3 gene fusions that have recently been identified in undifferentiated round cell sarcomas of bone and soft tissue. These neoplasms occurred in male children aged 11 and 12 years, and both were cystic as a result of entrapment and dilatation of native renal tubules. Both cases were composed of variably cellular bland spindle cells with fine chromatin set in myxoid stroma and separated by a branching capillary vasculature. Read More

Am J Surg Pathol 2017 Sep;41(9):1254-1260

Departments of *Pathology and Neuropathology †Radiotherapy ¶Hematology & Pediatric Oncology **Pediatric Neurosurgery, Timone Hospital, France #INSERM, CRO2 UMR_S 911, Aix-Marseille Université (AMU) ‡Clinical Cooperation Unit Neuropathology §Division of Pediatric Neurooncology, German Cancer Research Center (DKFZ) ∥Cancer Consortium (DKTK), Core Center Heidelberg, Heidelberg ††Department of Neuropathology, Medical Center Sigmund Freud, University of Bonn, Bonn, Germany.

The central nervous system (CNS) high-grade neuroepithelial tumor with BCOR alteration (CNS HGNET-BCOR) is a recently described molecular entity. We report 3 new CNS HGNET-BCOR cases sharing common clinical presentation and pathologic features. The 3 cases concerned children aged 3 to 7 years who presented with a voluminous mass of the cerebellum. Read More