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BMC Urology

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Open Access 01-12-2022 | Nephrectomy | Case report

A rare case report of renal ewing sarcoma/primitive neuroectodermal tumor with ACTH production

Authors: Weipu Mao, Jiajia Xu, Haowen Lu, Yali Wang, Lihua Zhang, Ming Chen

Published in: BMC Urology | Issue 1/2022

Abstract

Background

Ewing sarcoma/primitive neuroectodermal tumor (PNET) of the renal is extremely rare. The common cause of ectopic ACTH syndrome is pulmonary neuroendocrine tumors, such as small cell carcinomas and carcinoid tumors. Here, we present an unusual case of ectopic ACTH syndrome and hypothyroidism caused by Ewing sarcoma/PNET of the right kidney.

Case presentation

A 19-year-old girl presented with a history of right lumbar pain and discomfort for 2 months, aggravated for 2 days. Abdominal contrast-enhanced computed tomography and computed tomography angiography showed an upper pole occupancy of the right kidney occupancy with subepithelial hemorrhage. Preoperative hormone levels including plasma total cortisol (PTC), adrenocorticotrophic hormone (ACTH) and thyroid hormone measurements were abnormal, indicating that the patient had Cushing syndrome and hypothyroidism. The patient underwent right radical nephrectomy. Histopathological analysis revealed a renal small round blue cell tumor (consistent with a primitive neuroectodermal tumor), with positive immunohistochemistry for CD99 and Ki67 (about 10%) and molecular pathology for EWSR1 gene fusions. PTC, ACTH and thyroid hormone returned to normal after surgery.

Conclusions

We report a rare ectopic ACTH syndrome and hypothyroidism due to renal Ewing sarcoma/PNET. The clinical manifestation of renal Ewing sarcoma/PNET is non-specific and the diagnosis relies on pathological morphology, immunohistochemistry and fusion gene detection. At present, surgery combined with radiotherapy and chemotherapy is used in the treatment, but the prognosis is still not optimistic.

Watson S, Perrin V, Guillemot D, Reynaud S, Coindre JM, Karanian M, Guinebretiere JM, Freneaux P, Le Loarer F, Bouvet M, et al. Transcriptomic definition of molecular subgroups of small round cell sarcomas. J Pathol. 2018;245(1):29–40.CrossRef

Gupta S, Billadello L, Casalino DD. Renal primitive neuroectodermal tumor. J Urol. 2012;187(6):2211–2.CrossRef

Shibui Y, Miyoshi K, Kohashi K, Kinoshita Y, Kuda M, Yamamoto H, Taguchi T, Oda Y. Glypican-3 expression in malignant small round cell tumors. Oncol Lett. 2019;17(3):3523–8.PubMedPubMedCentral

Cohn SL. Diagnosis and classification of the small round-cell tumors of childhood. Am J Pathol. 1999;155(1):11–5.CrossRef

Hamidi N, Esen B, Kivrak H, Sertcelik A, Gulpinar O. A large and metastatic primitive neuroectodermal tumor of the kidney. Turk J Urol. 2015;41(3):152–4.CrossRef

Terzolo M, Reimondo G, Ali A, Bovio S, Daffara F, Paccotti P, Angeli A. Ectopic ACTH syndrome: molecular bases and clinical heterogeneity. Ann Oncol. 2001;12(Suppl 2):S83-87.CrossRef

Comi RJ, Gorden P. Long-term medical treatment of ectopic ACTH syndrome. South Med J. 1998;91(11):1014–8.CrossRef

Batsakis JG, Elnaggar AK. Ewingʼs sarcoma and primitive neuroectodermal tumors: cytogenetic cynosures seeking a common histogenesis. Adv Anat Pathol. 1997;4(4):207–20.CrossRef

Mohsin R, Hashmi A, Mubarak M, Sultan G, Shehzad A, Qayum A, Naqvi SA, Rizvi SA. Primitive neuroectodermal tumor/Ewing’s sarcoma in adult uro-oncology: a case series from a developing country. Urol Ann. 2011;3(2):103–7.CrossRef

10.

Aghili M, Rafiei E, Mojahed M, Zare M. Renal primitive neuroectodermal tumor: does age at diagnosis impact outcomes? Rare Tumors. 2012;4(1):15.CrossRef

11.

Song HC, Sun N, Zhang WP, Huang CR. Primary Ewing’s sarcoma/primitive neuroectodermal tumor of the urogenital tract in children. Chin Med J (Engl). 2012;125(5):932–6.

12.

Patnaik N, Mishra K, Saini P, Agarwal N. Primitive neuroectodermal tumor of the kidney in a young male: case report and review of literature. Urol Ann. 2015;7(2):236–9.CrossRef

13.

Nerli RB, Hiremath MB, Prabha V, Malur P, Borges A. Primitive neuroectodermal tumor (PNET) of the kidney with level IV inferior vena caval thrombus: a case report. Recent Res Sci Technol. 2010;2(6):38–41.

14.

Karpate A, Menon S, Basak R, Yuvaraja TB, Tongaonkar HB, Desai SB. Ewing sarcoma/primitive neuroectodermal tumor of the kidney: clinicopathologic analysis of 34 cases. Ann Diagn Pathol. 2012;16(4):267–74.CrossRef

15.

Folpe AL, Hill CE, Parham DM, O’Shea PA, Weiss SW. Immunohistochemical detection of FLI-1 protein expression: a study of 132 round cell tumors with emphasis on CD99-positive mimics of Ewing’s sarcoma/primitive neuroectodermal tumor. Am J Surg Pathol. 2000;24(12):1657–62.CrossRef

16.

Wu Y, Zhu Y, Chen H, Huang Y, Wei Q, Chen H, Xie X, Li X, Zhou Q, Yang Y. Primitive neuroectodermal tumor of the kidney with inferior vena cava tumor thrombus during pregnancy response to sorafenib. Chin Med J. 2010;123(15):2155–8.PubMed

17.

Rekhi B, Vogel U, Basak R, Desai SB, Jambhekar NA. Clinicopathological and molecular spectrum of ewing sarcomas/PNETs, including validation of ewsr1 rearrangement by conventional and array FISH technique in certain cases. Pathol Oncol Res. 2014;20:503–16.CrossRef

18.

Cieszyński Ł, Obołończyk MB, Szulc M, Sworczak K. Cushing’s syndrome due to ectopic ACTH secretion. J Clin Endocrinol Metab. 2016;67(4):458.

19.

Levine AC, Sanchez J. Commentary on cushing syndrome due to ectopic acth. Endocr Pract. 2017;23(8):1022–3.CrossRef

20.

Ilias I, Torpy DJ, Pacak K, Mullen N, Wesley R, Nieman LK. Cushing’s syndrome due to ectopic corticotropin secretion: twenty years’ experience at the National Institutes of Health. J Clin Endocrinol Metab. 2005;90(8):4955–62.CrossRef

21.

Shimizu N, Hasumi M, Hamano T, Iijima M, Yoshioka T, Yamazaki Y, Sasano H. Renal primitive neuroectodermal tumor with elevated plasma adrenocorticotropic hormone levels: a case report. IJU Case Rep. 2019;2(3):128–31.CrossRef

22.

Hakky TS, Gonzalvo AA, Lockhart JL, Rodriguez AR. Primary Ewing sarcoma of the kidney: a symptomatic presentation and review of the literature. Ther Adv Urol. 2013;5(3):153–9.CrossRef

Title: A rare case report of renal ewing sarcoma/primitive neuroectodermal tumor with ACTH production
Authors: Weipu Mao
Jiajia Xu
Haowen Lu
Yali Wang
Lihua Zhang
Ming Chen
Publication date: 01-12-2022
Publisher: BioMed Central
Keywords: Nephrectomy
Cushing's Syndrome
Fluorescence in Situ Hybridization
Nephrectomy
Sarcoma
CT Angiography
Nephrectomy
Hypothyroidism
Published in: BMC Urology / Issue 1/2022
Electronic ISSN: 1471-2490
DOI: https://doi.org/10.1186/s12894-022-01055-y

Keynote webinar | Spotlight on medication adherence

Springer Medicine

A rare case report of renal ewing sarcoma/primitive neuroectodermal tumor with ACTH production

Abstract

Background

Case presentation

Conclusions

Keynote webinar | Spotlight on medication adherence

Springer Medicine

Abstract

Background

Case presentation

Conclusions

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