Renal Medullary Cancer in a Patient with Sickle Cell Trait

Abstract

Renal medullary cancer is a rare malignancy almost exclusively seen in young patients of African ethnicity. These patients often present with the cardinal symptoms of hematuria, flank pain, and an abdominal mass, and this malignancy has been associated with patients carrying sickle cell trait. It is estimated that 300 million people worldwide carry sickle cell trait, and the presence of hematuria in these patients should be treated as a harbinger of a possible malignancy. Notably, this tumor mostly develops on the right side of the body. Patients often present with it at an advanced stage and the prognosis is poor. Therefore, a high index of suspicion in a patient of African descent presenting with a right sided abdominal mass and hematuria may assist in an early diagnosis. Current chemotherapy options are very limited, and early detection may provide a chance for surgical resection. It may also provide a bigger time frame for the initiation of novel chemotherapy regimens in patients who fail current chemotherapy regimens.

Renal medullary carcinoma and sickle cell trait: A systematic review

“…In addition to sickle-related injury, RMC specimens have several chromosomal abnormalities, as described in the Results section, including loss of nuclear INI1 tumor suppressor gene expression. [25,72] We would also like to mention that a minority of RMC cases occurs in individuals who do not have SCT or sickle cell disease. We report the first known case of this tumor in a child with beta thalassemia trait.…”

“…RMC has negative stains for high molecular weight cytokeratin 34bE12, [18] cytokeratin 10, [15] and INI1 nuclear staining. [20] In addition, described chromosomal abnormalities were mosomony 3 and 11, [13] loss of heterozygosity of the SMARCB1 gene on chromosome 22q [25,72] or negative stain for SMARCB1/INI1 without loss of heterozygosity, [25] and ALK rearrangement. [66] Treatment and Outcome Treatment strategies in the reviewed cases consisted of surgery and different chemotherapeutic agents.…”

Renal medullary carcinoma: A national analysis of 159 patients

“…The limited available data suggest that there is potential for improvement as it pertains to the current diagnostic and treatment modalities for RMC. However, the relative rarity of the disease renders large randomized controlled trials impractical and all current data on RMC originate from small case series, with fewer than 220 cases in total described in the medical literature . By more reliably defining outcomes to help understand the natural history of the disease, we hope to stimulate informed research about diagnosis and treatment, improved care, and more realistic expectations for patients and families.…”

Renal medullary carcinoma

“…Sickled erythrocytes are often found within the tumor and adjacent tissues. 5,13 Clinical presentation Patient age at presentation ranges from 5 to 69 years with a mean of 19. 5 RMC commonly presents with flank pain and hematuria.…”