Showing papers on "Renal medullary carcinoma published in 2014"
Cedars-Sinai Medical Center1, University of Erlangen-Nuremberg2, Johns Hopkins University3, University of Paris4, University of Otago5, Indiana University6, Charles University in Prague7, Harvard University8, Mayo Clinic9, University of Michigan10, University of Verona11, Cleveland Clinic12, University of Zurich13, Marche Polytechnic University14, University of Chicago15, University of Texas MD Anderson Cancer Center16, McMaster University17, Memorial Sloan Kettering Cancer Center18
TL;DR: Mahul B. Amin, MD,* Steven C. Smith,MD, PhD,w Pedram Argani, MDs,z Eva Marie Compérat, MD- PhD,y Brett Delahunt, MD - FRCPA, FRCPath,8 Jonathan I. McKenney, MD ,zz Rodolfo Montironi, Md,## Gladell P. Paner, MD*, Priya Rao, MD.
Abstract: Mahul B. Amin, MD,* Steven C. Smith, MD, PhD,* Abbas Agaimy, MD,w Pedram Argani, MD,z Eva Marie Compérat, MD, PhD,y Brett Delahunt, MD, FRCPA, FRCPath,8 Jonathan I. Epstein, MD,z John N. Eble, MD,z David J. Grignon, MD,z Arndt Hartmann, MD,w Ondřej Hes, MD, PhD,# Michelle S. Hirsch, MD, PhD,** Rafael E. Jimenez, MD,ww Lakshmi P. Kunju, MD,zz Guido Martignoni, MD,yy Jesse K. McKenney, MD,88 Holger Moch, MD,zz Rodolfo Montironi, MD,## Gladell P. Paner, MD,*** Priya Rao, MD,www John R. Srigley, MD,zzz Satish K. Tickoo, MD,yyy and Victor E. Reuter, MDyyy
82 citations
Journal Article•
TL;DR: As the underlying biologic mechanisms of RMC are further elucidated on a basic science level, it is expected new translational research opportunities will emerge and novel treatment options will be developed for this rare and dismal disease.
Abstract: Background: Renal medullary carcinoma (RMC) is an aggressive form of non–clear cell kidney cancer that typically affects young adults and is almost exclusively associated with sickle cell trait. Typical RMC patients tend to be young black males (2:1 male to female predominance) with sickle cell trait who present with pain and hematuria and are found to have metastatic disease at diagnosis. Prognosis is extremely poor, with a mean survival of less than a year in most cases. Case Report: We present a case illustrative of many of the classic findings of RMC. A 25-year-old female with a past medical history of sickle cell trait presented to the emergency room with right-sided flank pain. Initially, a computed tomography (CT) scan showed only a benign-appearing cystic lesion 4.5 cm in diameter in the right kidney. Six months later, the patient re-presented with hematuria, lightheadedness, and dizziness. A repeat CT scan showed that the renal cyst had enlarged to 5.6 cm. The patient underwent a decorti...
31 citations
TL;DR: A 30 year-old African American man presented to the emergency department in North Chicago, Illinois, in May, 2014, complaining of 1 day of severe left leg pain, exacerbated by moving the leg, and was diagnosed with compartment syndrome.
14 citations
TL;DR: A third case of RMC is reported in a patient with sickle cell anemia and it is questioned whether the epidemiologic paradigm for this rare disease should begin to shift from one that historically was thought to be unique to Sickle cell trait, to one that includes all sickling disorders.
Abstract: To the Editor: Renal medullary carcinoma (RMC) is a rare, highly malignant neoplasm that predominantly affects individuals who carry the sickle cell mutation (genotype Hb AS). The first case of RMC in a patient with sickle cell anemia (Hb SS) was reported in 2002, and since then, only one additional case of a patient with Hb SS has been described in the literature [1,2]. We report a third case of RMC in a patient with sickle cell anemia and question whether the epidemiologic paradigm for this rare disease should begin to shift from one that historically was thought to be unique to sickle cell trait, to one that includes all sickling disorders. A 13-year-old African-American male with Hb SS, treated with hydroxyurea since early infancy, presented with a several month history of recurrent abdominal pain and microscopic hematuria. Computed tomography (CT) and positron emission tomography scans confirmed a left renal mass and showed local invasion into the psoas muscle, retroperitoneal lymphadenopathy, and metastases to the liver and lungs. Core needle biopsy specimens were diagnostic for RMC. Neoadjuvant chemotherapy with three cycles of carboplatin, gemcitabine, and paclitaxel and one cycle of carboplatin, gemcitabine, and bortezomib resulted in radiographic improvement in the primary tumor and metastatic sites. A left radical nephrectomy and lymph node dissection were then performed. Pathology showed 10–20% focally viable RMC within the kidney with evidence of vascular invasion and positive margins. The sampled lymph nodes were free of tumor. Several weeks later, the patient underwent thoracoscopic resection of left pleural and pulmonary nodules, both of which were positive for metastatic disease. Over the next 11 months, the patient received multiple cycles of intensive chemotherapy. Palliative radiation therapy delivered to the psoasmuscle for painmanagement was beneficial. A brief initial response to therapy with interval imaging studies demonstrating stable disease was followed by rapid florid progression. The patient succumbed to widespread metastatic disease, 20 months from the time of original diagnosis. The estimated prevalence of Hb SS among African-Americans in the United States is 1:600, while sickle cell trait is 50 times more common, with a prevalence of 1:12 [3,4]. If RMC occurs equally among individuals with SCT and Hb SS, for every 50 cases in patients with SCT in North America, 1 case would be expected to occur in an individual with Hb SS. To date, the ratio of reported cases of RMC in North American patients with SCT compared to Hb SS is 46:1, closely approximating the expected frequencies of these two conditions. While the small absolute number of cases makes statistical extrapolation difficult, these data highlight the need for a broadened index of suspicion for RMC in all patients with sickle hemoglobinopathies, not just those with SCTwho are usually asymptomatic carriers of the Hb S gene. The epidemiologic and pathophysiologic association between RMC and the sickle cell disorders is poorly understood and warrants further investigation.
13 citations
TL;DR: The seventh case of a left RMC occurring in a white child with sickle cell trait, but with a localization of the tumor in the left kidney, considered a nonpredominant side for this type of tumor is reported.
Abstract: Renal medullary carcinoma (RMC) is a rare neoplasm of the kidney that has been recently described. It is almost exclusive to young patients of African descent and associated with sickle cell hemoglobinopathy, mainly sickle cell trait and hemoglobin sickle cell disease. The prognosis of RMC is very poor because of the highly aggressive behavior of this neoplasm and its resistance to conventional chemotherapy. Metastatic disease is almost universal at the time of presentation, and the malignancy is minimally responsive to a variety of regimens and/or modalities, including surgery, radiotherapy, chemotherapy, and biological immune-modulation therapy. We report the seventh case of a left RMC occurring in a white child with sickle cell trait, but with a localization of the tumor in the left kidney, considered a nonpredominant side for this type of tumor.
10 citations
TL;DR: A case of renal papillary necrosis in a middle-aged female with sickle cell trait who presented with gross hematuria is described and the pathophysiology, diagnosis, and management of renal Papillary Necrosis in patients with Sickle Cell trait is reviewed.
Abstract: We describe a case of renal papillary necrosis in a middle-aged female with sickle cell trait who presented with gross hematuria. We wish to highlight this case for several reasons. Sickle cell trait is often viewed as a benign condition despite the fact that it is associated with significant morbidity such as renal papillary necrosis and renal medullary carcinoma. Appropriate evaluation needs to be undertaken to promptly diagnose renal papillary necrosis and differentiate it from renal medullary carcinoma as this can result in deadly consequences for patients. CT urography has emerged as a diagnostic study to evaluate hematuria in such patients. We review the pathophysiology, diagnosis, and management of renal papillary necrosis in patients with sickle cell trait. Keywords: Sickle cell trait; renal papillary necrosis; CT urography (Published: 25 November 2014) Citation: Journal of Community Hospital Internal Medicine Perspectives 2014, 4 : 25418 - http://dx.doi.org/10.3402/jchimp.v4.25418
10 citations
TL;DR: A near-complete radiological and pathological response in a patient treated with dose-dense MVAC (methotrexate, vinblastine, doxorubicin, and cisplatin) chemotherapy had a 16-month progression-free survival, one of the longest reported in patients with RMC.
Abstract: Renal medullary carcinoma (RMC) is a rare but aggressive malignancy affecting young individuals with sickle cell trait. Renal medullary carcinoma commonly presents with advanced or metastatic disease and is associated with a rapidly progressive clinical course and an extremely short overall survival measured in weeks to few months. Due to the rarity of RMC, there is no proven effective therapy and patients are often treated with platinum-based chemotherapy. We report near-complete radiological and pathological response in a patient treated with dose-dense MVAC (methotrexate, vinblastine, doxorubicin, and cisplatin) chemotherapy. The patient underwent consolidation nephrectomy and retroperitoneal lymph node dissection and had a 16-month progression-free survival, one of the longest reported in patients with RMC.
10 citations
TL;DR: The first case of a young woman from French West Indies with sickle cell anemia who developed a translocation RCC t(6;11)(p21;q12) is reported, which is the first case described in the literature of a translocations RCC associated with Sickle cell disease.
Abstract: Translocation renal cell carcinoma (RCC) is a family of rare tumors recently identified in the pediatric and young adult population. We report the first case of a young woman from French West Indies with sickle cell anemia who developed a translocation RCC t(6;11)(p21;q12). Usually people with the sickle cell condition are known to develop renal medullary carcinoma (RMC). To our knowledge, this is the first case described in the literature of a translocation RCC associated with sickle cell disease. Here we discuss the relation between translocation RCC, RMC, and sickle cell disease.
2 citations
TL;DR: RMC usually presents at advanced stages and is universally fatal in people with sickle cell trait; however, the disease can be treated with conventional chemotherapy.
Abstract: 4586 Background: RMC is a rare and highly aggressive malignancy that affects primarily young individuals with sickle cell trait. RMC usually presents at advanced stages and is universally fatal wit...
1 citations
TL;DR: This work describes the first known reported case of a white male adolescent with sickle cell trait, who was treated for a metastatic RMC with reticular pattern of rhabdoid-like cells and absence of INI1 expression, by the European Soft Tissue Sarcoma Study Group (EpSSG) protocol designed for rhabDoid tumors and who achieved a transitory complete response.
Abstract: Renal medullary carcinoma (RMC) is a very rare disease that is almost exclusive to young black patients with sickle cell trait. Most patients present with metastatic disease at diagnosis and have a grim prognosis. Histologic diagnosis of these tumors can be difficult in the presence of rhabdoid elements and loss of INI1 expression as observed in our case. We describe the first known reported case of a white male adolescent with sickle cell trait, who was treated for a metastatic RMC with reticular pattern of rhabdoid-like cells and absence of INI1 expression, by the European Soft Tissue Sarcoma Study Group (EpSSG) protocol designed for rhabdoid tumors and who achieved a transitory complete response. Although complete remission was achieved, overall survival was not improved.
01 Jan 2014
TL;DR: Renal malignancies account for 6% of pediatric cancer diagnoses with 7.7 per million under age 15 and 6.1 per million over age 20, and non-Wilms tumors, which account for less than 10% of primary renal neoplasms and less than 1% of all childhood cancers, are studied.
Abstract: Renal malignancies account for 6% of pediatric cancer diagnoses with 77 per million under age 15 and 61 per million under age 20 In the USA approximately 500–550 children and adolescents are diagnosed with renal tumors yearly The majority of these are nephroblastoma (Wilms tumor) Non-Wilms tumors, which account for less than 10% of primary renal neoplasms and less than 1% of all childhood cancers, include renal cell carcinoma (RCC), clear cell sarcoma of the kidney (CCSK), malignant rhabdoid tumor of the kidney (MRTK), cystic nephroma, mesoblastic nephroma and renal medullary carcinoma
01 Jan 2014
TL;DR: This chapter provides an overview of the major non-Wilms renal tumors of childhood, including the ultra-rare entities of renal medullary carcinoma, metanephric tumors, and renal sarcomas.
Abstract: The vast majority of childhood renal tumors are Wilms tumors (nephroblastoma). All other pediatric kidney tumors comprise less than 15 % of childhood renal tumors and are therefore considered rare malignancies of childhood. The most frequently observed non-Wilms renal tumors include clear cell sarcoma of the kidney (CCSK), renal cell carcinoma (RCC), malignant rhabdoid tumor of the kidney (MRTK), and congenital mesoblastic nephroma (CMN). These tumor types are markedly heterogeneous in their clinical characteristics. CMN occurs mainly in early infancy, MRTK occurs in infants and young toddlers, CCSK occurs in toddlers and young school-age children, and RCC is most common in adolescents. The outcome of CMN is excellent, with overall survival rates over 95 % without adjuvant chemotherapy. By contrast, patients with MRTK have overall survival rates of only 20–25 %, even with intensive multimodality treatment regimens. The outcomes of CCSK and RCC are intermediate between CMN and MRTK. The non-Wilms renal tumors also have markedly different biological characteristics, each bearing distinct genetic mutations and translocations. This chapter provides an overview of the major non-Wilms renal tumors of childhood, including the ultra-rare entities of renal medullary carcinoma, metanephric tumors, and renal sarcomas.