Case Report
Renal Medullary Carcinoma and Sickle Cell Trait: A Push for Early Diagnosis and Intervention Report of Two Cases

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Abstract

Renal medullary carcinoma (RMC) is a rare but highly aggressive neoplasm that primarily affects young African Americans with sickle cell trait. Most patients present with macroscopic hematuria and have metastases at diagnosis. Chemotherapy, biologics directed against the more common renal cell carcinomas and radiation have all shown limited efficacy in treating patients with advanced RMC. We report two patients with RMC. Both had Stage IV disease. One underwent radical nephrectomy followed by radiation and biologic drug therapy but died five months later; the other underwent multiple cycles of chemotherapy plus anti-angiogenesis treatment but died 15 months after diagnosis. Review of the literature suggests that early diagnosis and surgical intervention while the tumor is confined to the kidney offer the best prospect for long term survival. Since newborn screening for sickle cell is now mandated in the US, the at-risk population for RMC could be identified and followed by yearly urine dipstick testing for microscopic hematuria. Those who test positive can be further evaluated to rule out RMC.

Introduction

Renal medullary carcinoma (RMC) is rare, but has a near 100% mortality. Almost all patients reported from the United States are African American children or young adults and have sickle cell trait; a few patients have had sickle cell disease or hemoglobin SC. The vast majority of patients present with Stage III or Stage IV disease.1, 2 Because of its rarity, large clinical trials to develop optimal therapy have not been possible. Information from individual patients and retrospective studies has been used to evaluate and guide treatment. We offer two additional reports of this biologically aggressive neoplasm as well as a suggestion for screening the at-risk population.

Section snippets

Patient 1

A 38 year old previously healthy African American man with sickle cell trait presented with a two week history of macroscopic hematuria. He was initially treated with antibiotics; hematuria persisted. He then underwent a CT scan which showed a 6 cm left renal mass (Figure 1) as well as bilateral pulmonary nodules, hilar lymphadenopathy and a vertebral lesion. The patient underwent radical nephrectomy. Microscopically the mass exhibited characteristics of RMC (Figure 2). He received radiation

Discussion

In 1995, Davis et al first described RMC and called it the “seventh sickle cell nephropathy,” a fitting term as nearly all patients then and since have had sickle cell trait or a sickling syndrome.1 Though much less common than other sickling-related renal pathologies, RMC has a predilection for young individuals (median age at diagnosis 19–22 years3) and has even occurred in children. While renal cell carcinomas overall are relatively common, with an estimated 65,000 cases diagnosed in the

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The authors wish to acknowledge Cheryl Jones MD, Lancing Patterson MD and Gary Walker MD for their help in obtaining patient information, and John Knight for photographic support. Mr. Carter is the Vice-President of the Mercer University School of Medicine (MUSM) Chapter of the Student National Medical Association and undertook this study as part of a MUSM Summer Scholar project.

The authors have no financial or proprietary interests in the subject matter of this article.

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