Renal medullary carcinoma
|Renal medullary carcinoma|
|Classification and external resources|
Location of renal medulla.
Renal medullary carcinoma is a rare type of cancer that affects the kidney. It tends to be aggressive, difficult to treat, and is often metastatic at the time of diagnosis. Most individuals with this type of cancer have sickle cell trait or rarely sickle cell disease, suggesting that the sickle cell trait may be a risk factor for this type of cancer.
Renal medullary carcinoma has been termed "the seventh sickle cell nephropathy" because it is found almost exclusively in individuals with sickle cell trait or occasionally in those with sickle cell disease.
Medical signs and symptoms
In a case series of 34 patients, Davis and colleagues reported the following signs and symptoms:
- macroscopically visible (gross) hematuria (60%)
- abdominal or back/flank pain (50%)
- significant weight loss (25%)
The etiology of renal medullary carcinoma is still not completely understood. However, the majority of individuals diagnosed with this type of cancer have had sickle cell trait, in which the person carries one normal copy of the hemoglobin A gene (HbA) and one copy of the hemoglobin A gene harboring the genetic mutation found in sickle cell disease (HbS). These individuals do not have sickle cell disease but can manifest symptoms such as kidney damage over the course of their lives. The other genetic or environmental factors that contribute to the risk of renal medullary carcinoma are unknown.
The finding that virtually all people affected by renal medullary carcinoma carry at least one copy of the HbS mutation suggests that sickle cell trait somehow predisposes to this type of cancer. The precise mechanism is unknown, however red blood cells with a sickle cell configuration have been identified in pathology specimens.
The diagnosis of renal medullary carcinoma is typically made after individuals with sickle cell trait present with the typical signs and symptoms outlined above, in combination with radiographic imaging (usually abdominal/pelvic CT scan) studies and ultimately surgical biopsy and pathological examination of the tumor. Findings on radiographic examination are non-specific and can reveal a mass deep within the kidney. Histopathology studies show a distinctive pattern that can be distinguished from other renal tumors.
Renal medullary carcinoma is extremely rare and it is not currently possible to predict those individuals with sickle cell trait who will eventually develop this cancer. It is hoped that early detection could result in better outcomes but screening is not feasible.
This cancer is typically aggressive, presents at an advanced stage when the cancer has already metastasized, and is resistant to chemotherapy. It therefore poses a significant management challenge. Current treatment options include surgical resection and chemotherapy with a variety of agents, including (but not limited to) ifosfamide, etoposide, carboplatin, and topotecan. A recent study looked at the use of methotrexate, vinblastine, doxorubicin, and cisplatin in 3 patients and saw a partial response and longer survival than historical reports. Carboplatin, gemcitibine, and paclitaxel provided a complete response in a patient with advanced disease. The role of radiation is unclear; some tumors have shown a response to radiation. Due to the apparent propensity for the tumor to spread to the central nervous system, it has been suggested that prophylactic craniospinal irradiation should be considered.
Since the cancer most often presents at an advanced stage, prognosis is generally very poor, with median survival times of 3 months (range 1–7 months). Longer survival of beyond one year was reported in one patient and of up to eight years in one individual whose tumor was well circumscribed and non-metastatic at the time of diagnosis, suggesting that early detection could dramatically improve survival.
As of 2009, there have been approximately 120 reported cases of renal medullary carcinoma. In every instance except for one, the patients were positive for cell sickling. Wilms' tumor, the most common renal tumor of childhood, is responsible for 6-7% of childhood cancer whereas all remaining primary renal tumors (among which is included renal medullary carcinoma) collectively account for less than 1% of all childhood cancer and less than 10% of primary kidney tumors in childhood.
Renal medullary carcinoma was first described as a clinicopathologic entity in 1995.
- Davis CJ, Mostofi FK, Sesterhenn IA (January 1995). "Renal medullary carcinoma. The seventh sickle cell nephropathy". Am. J. Surg. Pathol. 19 (1): 1–11. doi:10.1097/00000478-199501000-00001. PMID 7528470.
- Assad L, Resetkova E, Oliveira VL, et al. (February 2005). "Cytologic features of renal medullary carcinoma". Cancer 105 (1): 28–34. doi:10.1002/cncr.20764. PMID 15593260.
- Warren KE, Gidvani-Diaz V, Duval-Arnould B (February 1999). "Renal medullary carcinoma in an adolescent with sickle cell trait". Pediatrics 103 (2): E22. doi:10.1542/peds.103.2.e22. PMID 9925868.
- Baig MA, Lin YS, Rasheed J, Mittman N (July 2006). "Renal medullary carcinoma". J Natl Med Assoc 98 (7): 1171–4. PMC 2569460. PMID 16895289.
- Avery RA, Harris JE, Davis CJ, Borgaonkar DS, Byrd JC, Weiss RB (July 1996). "Renal medullary carcinoma: clinical and therapeutic aspects of a newly described tumor". Cancer 78 (1): 128–32. doi:10.1002/(SICI)1097-0142(19960701)78:1<128::AID-CNCR18>3.0.CO;2-1. PMID 8646708.
- Pirich LM, Chou P, Walterhouse DO (1999). "Prolonged survival of a patient with sickle cell trait and metastatic renal medullary carcinoma". J. Pediatr. Hematol. Oncol. 21 (1): 67–9. doi:10.1097/00043426-199901000-00019. PMID 10029817.
- Rathmell WK, Monk JP (September 2008). "High-dose-intensity MVAC for Advanced Renal Medullary Carcinoma: Report of Three Cases and Literature Review". Urology 72 (3): 659–63. doi:10.1016/j.urology.2008.05.009. PMID 18649931.
- Walsh, A; Kelly DR; Vaid YN; Hilliard LM; Friedman GK (2010). "Complete response to carboplatin, gemcitabine, and paclitaxel in a patient with advanced metastatic renal medullary carcinoma". Pediatr Blood Cancer 55 (6): 1217–20. doi:10.1002/pbc.22611. PMID 20979179.
- Walsh, AM; Fiveash JB; Reddy AT; Friedman GK (2011). "Response to radiation in renal medullary carcinoma.". Rare Tumors 3 (3): e32. doi:10.4081/rt.2011.e32. PMC 3208419. PMID 22066039.
- Watanabe IC, Billis A, Guimarães MS, et al. (September 2007). "Renal medullary carcinoma: report of seven cases from Brazil". Mod. Pathol. 20 (9): 914–20. doi:10.1038/modpathol.3800934. PMID 17643096.
- Tsaras, Geoffrey, Amma Owusu-Ansah, Freda Owusua Boateng, and Yaw Amoateng-Adjepong. "Complications Associated with Sickle Cell Trait: A Brief Narrative Review." The American Journal of Medicine 122.6 (2009): 507-12. PubMED. Web. <http://www.ncbi.nlm.nih.gov/pubmed/19393983>.
- Broecker B (August 2000). "Non-Wilms' renal tumors in children". Urol. Clin. North Am. 27 (3): 463–9, ix. doi:10.1016/S0094-0143(05)70094-X. PMID 10985146.