Xeroderma pigmentosum and renal leiomyosarcoma: A very rare case report association

Rami Boulma; Yosra Ben Ahmed; Meriem Oumaya; Amen Dhaoui; Bilel Saidani; Hassen Khouni; Adnen Chouchen

doi:10.1016/j.ijscr.2020.12.044

Xeroderma pigmentosum and renal leiomyosarcoma: A very rare case report association

Int J Surg Case Rep. 2021 Jan:78:310-313. doi: 10.1016/j.ijscr.2020.12.044. Epub 2020 Dec 20.

Authors

Rami Boulma¹, Yosra Ben Ahmed², Meriem Oumaya³, Amen Dhaoui⁴, Bilel Saidani¹, Hassen Khouni¹, Adnen Chouchen¹

Affiliations

¹ Department of Surgery, FSI Hospital, La Marsa, Tunisia; University of Tunis El Manar, Tunis, Tunisia.
² Department of Pediatric Surgery B, Children Hospital Bechir Hamza, 1007 Tunis, Tunisia; University of Tunis El Manar, Tunis, Tunisia.
³ Department of Pediatric Surgery B, Children Hospital Bechir Hamza, 1007 Tunis, Tunisia; University of Tunis El Manar, Tunis, Tunisia. Electronic address: meriem.oumaya@gmail.com.
⁴ Department of Pathology, FSI Hospital, La Marsa, Tunisia; University of Tunis El Manar, Tunis, Tunisia.

Abstract

Introduction: Xeroderma pigmentosum (XP) is a rare genetic disorder causing extreme sensitivity to ultraviolet (UV) rays. It is transmitted by an autosomal recessive mode. This disease is classically characterized by a high risk of skin cancer. The occurrence of extra-dermatological cancers in patients followed for XP has been rarely reported in the literature. We present the case of a 14-year-old adolescent with an exceptional association of XP and renal leiomyosarcoma.

Presentation of case: A 14-year-old adolescent was presented with an abdominal mass revealed by hematuria and abdominal pain. Computed tomography (CT) of the abdomen showed an enhancing, heterogeneous right renal mass, consistent with the features of renal tumor. After non conclusive biopsy, a total nephrectomy of the right kidney was performed. Based on gross specimen observation and immunochemical analysis, the patient was diagnosed with high-grade renal leiomyosarcoma. An adjuvant chemotherapy was indicated and the patient was referred to medical oncology. At 12 months follow-up, the patient is in total remission; The CT scan did not show any locoregional or distant recurrence CONCLUSION: The risk of renal tumor is increased in patients followed for XP. Attending physicians should ask for renal imaging at the slightest sign of clinical call.

Keywords: Case report; Leiomyosarcoma; Renal tumor; Xeroderma pigmentosum.

Publication types

Case Reports