Renal medullary carcinoma (RMC) is a highly aggressive and rare malignancy found almost exclusively in young patients with sickle cell trait (SCT). Metastatic disease is commonly present at diagnosis. There is very limited experience treating disseminated disease and the prognosis is dismal. We report the case of a young 9-year-old boy with SCT, who presented with 4 months’ progression of abdominal pain, nausea and vomiting associated with cough spells, dysphagia, and weight loss. Upon evaluation, he was underweight, pale, and in mild respiratory distress. Cervical lymphadenopathy was evident and abdomen was diffusely tender. A whole-body CT scan showed a left kidney lesion with associated cervical, mediastinal, and retroperitoneal lymphadenopathy. Biopsy of a cervical lymph node revealed metastatic RMC. Patient was started on combination chemotherapy with paclitaxel, carboplatin, and gemcitabine followed by left adrenalectomy. In spite of having advanced disease, our patient achieved an excellent response with a progression-free survival of 17 months. Although SCT is thought to be a “benign” condition, RMC is one devastating complication associated with it. Considering its rarity, the near uniform associated fatality should prompt the question of whether clinical practice should change regarding proper counseling of these patients and raise awareness in the medical community.
This is a preview of subscription content, log in to check access.
We declare no funding source for our work.
YGV did the literature review, obtained the radiologic images, and wrote the article. GC and NB contributed to the literature review and to the correction of the first draft. MC provided the pathology images and helped to correct the first draft. All authors were directly involved in the care of the patient.
Compliance with ethical standards
Conflict of interest
All the authors have declared no competing interest.
Human and animal rights
This article does not contain any studies with human participants or animals performed by any of the authors.
Bucknor MD, Goo JS, Coppolino ML. The risk of potential thromboembolic, renal and cardiac complications of sickle cell trait. Hemoglobin. 2014;38(1):28–32.CrossRefPubMedGoogle Scholar
Davis CJ, Mostofi FK, Sesterhenn IA. Renal medullary carcinoma: the seventh sickle cell nephropathy. Am J Surg Pathol. 1995;19(1):1–11.CrossRefPubMedGoogle Scholar
Alvarez O, Rodriguez MM, Jordan L, Sarnaik S. Renal medullary carcinoma and sickle cell trait: a systematic review. Pediatr Blood Cancer. 2015;62(10):1694–9.CrossRefPubMedGoogle Scholar
Hakimi AA, Koi PT, Milhoua PM, Blitman NM, Li M, Hugec V, et al. Renal medullary carcinoma: the Bronx experience. Urology. 2007;70(5):878–82.CrossRefPubMedGoogle Scholar
Loehrer PJ Sr, Einhorn LH, Elson PJ, et al. A randomized comparison of cisplatin alone or in combination with methotrexate, vinblastine, and doxorubicin in patients with metastatic urothelial carcinoma: a cooperative group study. J Clin Oncol. 1992;10(7):1066.CrossRefPubMedGoogle Scholar
Rathmell WK, Monk JP. High-dose-intensity MVAC for advanced renal medullary carcinoma: report of three cases and literature review. Urology. 2008;72:659–63.CrossRefPubMedGoogle Scholar
Strouse JJ, Spevak M, Mack AK, Arceci RJ, Small D, Loeb DM. Significant responses to platinum-based chemotherapy in renal medullary carcinoma. Pediatr Blood Cancer. 2005;44:407–11.CrossRefPubMedGoogle Scholar
Diao B, Paule B, Esquivel S, Abbou CC, Salomon L, De La Taille A. Renal medullary carcinoma: remission with gemcitabine–cisplatin and review of therapeutic perspectives. Prog Urol. 2010;20:538–41.CrossRefPubMedGoogle Scholar
Walsh A, Kelly DR, Vaid YV, Hilliard LM, Friedman GK. Complete response to carboplatin, gemcitabine, and paclitaxel in a patient with advanced metastatic renal medullary carcinoma. Pediatr Blood Cancer. 2010;55:1217–20.CrossRefPubMedGoogle Scholar
Strouse JJ, Spevak M, Mack AK, et al. Significant responses to platinum-based chemotherapy in renal medullary carcinoma. Pediatr Blood Cancer. 2005;44:407–11.CrossRefPubMedGoogle Scholar
Ronnen EA, Kondagunta GV, Motzer RJ. Medullary renal cell carcinoma and response to therapy with bortezomib. J Clin Oncol. 2006;24:e14.CrossRefPubMedGoogle Scholar
Schaeffer EM, Guzzo TJ, Furge KA, et al. Renal medullary carcinoma: molecular, pathological and clinical evidence for treatment with topoisomerase-inhibiting therapy. BJU Int. 2010;106:62–5.CrossRefPubMedGoogle Scholar
Johnson ED, Tannir NN, Olejeme KA, et al. Survival benefit in bevacizumab-based therapy in sickle cell trait patients diagnosed with renal medullary carcinoma. J Clin Oncol. 2009;27(15S):e16096.Google Scholar
Liu Q, Galli S, Srinivasan R, Linehan WM, Tsokos M, Merino MJ. Renal medullary carcinoma: molecular, immunohistochemistry, and morphologic correlation. Am J Surg Pathol. 2013;37(3):368–74.CrossRefPubMedGoogle Scholar
Swartz MA, Karth J, Schneider DT, et al. Renal medullary carcinoma: clinical, pathologic, immunohistochemical, and genetic analysis with pathogenetic implications. Urology. 2002;60:1083–9.CrossRefPubMedGoogle Scholar
Calderaro J, Moroch J, Pierron G, et al. SMARCB1/INI1 inactivation in renal medullary carcinoma. Histopathology. 2012;61(3):428–35.CrossRefPubMedGoogle Scholar