The characteristic appearance of renal cell carcinoma rcc is a solid renal lesion which disturbs the renal contour. Renal medullary carcinoma is a rare and distinctive entity occurring almost exclusively in young patients with sickle cell trait or rarely other hemoglobinopathies. Renal medullary carcinoma rmc is a rare, yet aggressive malignancy of the kidney that is found predominantly in young patients with african descent and sickle cell hemoglobinopathies and most. Rcc occurrence shows a male predomiance over women with a ratio of 1. 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 ca. Printable renal medullary carcinoma surgical pathology criteria. Strongly positive for vascular endothelial growth factor and hypoxia inducible factor majority of rmcs are located in the right kidney majority show mutations in smarcb1 ini1 leading to loss of ini1 expression by immunohistochemistry.
The typical patient with rmc is an adolescent or young adult carcinoma is a rare type of renal cell carcinoma originating from the renal medulla. The typical patient with rmc is an adolescent or young adult renal medullary carcinoma rmc has all of the following characteristics, except. Davis et al 1 first described this entity in 1995 in 33 patients where they noted it as being highly predictive of finding sickled. It is estimated that 300 million people worldwide carry sickle cell trait, and the presence of.
It tends to be aggressive, difficult to treat, and is often metastatic at the time of diagnosis. Loss of ini1 can be found in other neoplasms mit family translocation renal cell carcinomas. Renal medullary carcinoma genetic and rare diseases. Overlaps histopathologically with collecting duct carcinoma but is separated based on the following features occurrence in young patients. Renal medullary carcinoma rmc is a rare cancer often referred to as the seventh sickle cell nephropathy.
Additionally the usage of adjuvant therapy is related to tumor subtype. Renal medullary carcinoma is a rare, wellrecognized highly aggressive tumor of varied histopathology, which occurs in young patients with. Renal medullary carcinoma mit family translocation renal cell carcinoma xp11 translocation renal cell carcinoma t6. In diagnostically challenging cases of renal oncocytic epithelial neoplasms, fluorescent insitu hybridization fish is increasingly being used and its ability to distinguish ro from chromophobe renal cell carcinoma chrcc has been documented. Renal medullary carcinoma is a rare type of cancer that affects the kidney. It is the second most common type of kidney cancer, but accounts for only five to 10 percent of all primary renal malignant tumors. Renal cell carcinoma in the era of precision medicine.
Collecting duct carcinoma an overview sciencedirect topics. Renal medullary carcinoma is an epithelial malignant tumor arising from collecting duct epithelium. Characteristic nuclear features of renal medullary carcinoma, including pleomorphism, prominent nucleoli, vesicular chromatin, groove formation, and mitotic activity hematoxylineosin, original magnification 3400. Previous reports of lowgrade collecting duct carcinoma. Autosomal dominant, due to germline mutation of vhl gene at chromosome 3p25. Printable renal medullary carcinoma surgical pathology. University school of medicine, indianapolis, in, usa. 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. Renal medullary carcinoma is a rare, wellrecognized highly aggressive tumor of varied histopathology, which occurs in young patients with sickle cell trait or disease. In summary, we report the cytologic features of renal medullary carcinoma occurring in three young black men with sickle cell trait. Renal medullary carcinoma rmc is a rare but aggressive malignancy affecting young individuals with sickle cell trait.
Renal medullary carcinoma rmc is an aggressive form of nonclear cell kidney cancer that typically affects young adults and is almost exclusively associated with sickle cell trait. Clinical collecting duct carcinoma is a rare entity and the genetic underpinnings of this disease are poorly understood. May 24, 2010 clinical studies have confirmed that renal oncocytoma ro is a benign neoplasm with excellent prognosis. Jan 17, 2017 renal medullary carcinoma rmc is a rare cancer often referred to as the seventh sickle cell nephropathy. Invasive medullary carcinoma shows fibrosis around tumor cells and stains more weakly for. Renal medullary carcinoma is a rare tumor that is most common in.
Most patients present with metastatic disease and have a worse prognosis. Smarcb1ini1 genetic alterations in renal medullary carcinomas. Molecular classification of renal cell carcinoma and its implication in future clinical practice. Patients may also develop flank pain or feel a lump in the abdomen that is usually on the right side of the body. February 2020 the use of this protocol is recommended for clinical care purposes but is not required for accreditation purposes. Papillary renal cell carcinoma rcc is the second most common form of rcc, after clear cell rcc, accounting for 1015% of cases. The oncocytic variant of medullary carcinoma can be confused with hurthle cell carcinoma. Chromophobe renal cell carcinoma carcinoma of the collecting ducts of bellini renal medullary carcinoma xp11 tranlocation carcinomas carcinoma associated with. This type of renal cancer was named renal medullary carcinoma rmc and was considered to be a specific phenotype associated with scd. It is the second most common type of kidney cancer, but accounts for only five to 10 percent of all primary renal malignant. Metastatic renal medullary carcinoma in a regional lymph node.
Although most cases of renal cell carcinoma rcc are sporadic, increasing numbers of previously undiagnosed hereditary cancers have been re. May 08, 2007 histopathology breast medullary carcinoma. In comparison with clear cell rccs, papillary rccs in general have less aggressive features, including being both smaller in size and lower in stage at presentation 2, 3. In localised disease, partial nephrectomy for small tumours and radical nephrectomy for large tumours continue to be the goldstandard treatments, with emphasis on approaches that have reduced invasiveness. Renal medullary carcinoma surgical pathology criteria. Due to the rarity of rmc, there is no proven effective therapy. Renal medullary carcinoma american urological association.
Renal medullary carcinoma rmc is a rare aggressive subtype of renal. Some renal tumors have been described or recognized only. 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. Collecting duct carcinoma cdc of the kidney is a rare and distinctive renal cancer that may arise from the medullary collecting ducts. In april 2016, a small international group of investigators that represented pathology, pediatric and medical oncology, urology, nephrology, hematology, cancer genomics, and therapeutic development interests in rmc gathered in nashville, tennessee, to discuss the status of. Characteristic nuclear features of renal medullary carcinoma, including pleomorphism, prominent nucleoli, vesicular chromatin, groove formation, and mitotic activity hematoxylineosin, original magnification. Invasive carcinoma of renal tubular origin histopathology. Collecting duct carcinoma derives from the renal medulla and has an infiltrative growth pattern at pathologic examination. Rcc is the most common type of kidney cancer in adults, responsible for approximately 9095% of cases. Collecting duct carcinoma and medullary carcinoma are extremely aggressive but rare tumors. Originally coined the seventh sickle cell nephropathy by davis et al, 1 renal medullary carcinoma rmc is a rare, aggressive malignant neoplasm typically affecting young african americans with sickle cell trait, or, less frequently, sickle cell disease. High grade renal adenocarcinoma arising in medulla of the kidney, associated with sickle cell trait.
The histology of ctguided needle biopsy revealed necrotic tissue. Collecting duct carcinoma is an uncommon yet distinct epithelial neoplasm of the kidney that has received considerable attention in the medical literature 1,2,3,4. In this study we used comprehensive genomic profiling to elucidate clinically relevant genetic alterations in a series of patients with this disease. Kidney equivalent terms and definitions c649 excludes. We present a case of cutaneous renal cell carcinoma metastatic to the scalp. Cytologically, the tumor cells were similar to those seen in a high.
It has been shown to be resistant to chemotherapy and radiation and can metastasize to virtually any organ site. New data have been included in the following sections, resulting in changed recommendations. Cytologic features of renal medullary carcinoma wiley online library. This program was designed to help urology residents and fellows familiarize themselves with the. Differentiation of papillary renal cell carcinoma subtypes on. Renal medullary cancer is a rare malignancy almost exclusively seen in young patients of african ethnicity. Renal medullary carcinoma request pdf researchgate. Renal medullary carcinoma with an aggressive clinical course. Figure 5 renal medullary carcinoma of the right kidney.
Although renal medullary carcinoma rmc is a rare subtype of kidney cancer, it is. Delahunt and eble divided papillary rccs into two groups. Transitional cell carcinoma, also called urothelial carcinoma, is a type of cancer that typically occurs in the urinary system. A case of cutaneous metastatic renal cell carcinoma to the scalp. Protocol for the examination of biopsy specimens from. Smarcb1ini1 genetic alterations in renal medullary. Renal medullary carcinoma right of image, reactive urothelium and sickled red blood cells. 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. Figure 6 metastatic renal medullary carcinoma in a regional lymph node. Clinical and immunologic correlates of response to pd1. Updated recommendations on the diagnosis, management, and.
The majority of rmcs show smarcb1 ini1 leading to loss of ini1 protein expression c. It is the most common type of bladder cancer and cancer of the ureter, urethra, and urachus. Unclassified renal cell carcinoma with medullary phenotype. In localised disease, partial nephrectomy for small tumours and radical nephrectomy for large tumours continue to be the goldstandard treatments, with emphasis on approaches that have. Invasive carcinoma of renal tubular origin histopathology reporting guide. Renal medullary carcinoma rmc is a rare, yet aggressive malignancy of the kidney that is found predominantly in young patients with african descent and. Histopathology and prognosis in renal cancer luca mazzucchelli istituto cantonale di patologia, locarno. Carcinoma of the collecting ducts of bellini renal medullary carcinoma in1 and sickle cell mit family translocation renal cell carcinoma xp11 translocation renal cell carcinoma t6. Pathology results showed atypical large cells with high nucleustocytoplasm ratio, the chromatin. The first sign is often blood in the urine hematuria. Renal medullary cancer in a patient with sickle cell trait. A case of cutaneous metastatic renal cell carcinoma to the. Papillary renal cell carcinoma type 1 type 2 oncocytic nos chromophobe renal cell carcinoma hybrid oncocytic chromophobe tumour collecting duct carcinoma renal medullary carcinoma mit family translocation renal cell carcinoma xp11 translocation renal cell carcinoma t6. Considerable progress has been made in the treatment of patients with renal cell carcinoma, with innovative surgical and systemic strategies revolutionising the management of this disease.
Collecting duct carci noma, malignant rhabdoid tumor, urothelial carcinoma, and other subtypes of renal cell carcinoma are in the differential. Typical rmc patients tend to be young black males 2. It predominantly afflicts young adults and adolescents with sickle cell trait and other sickle hemoglobinopathies, and is refractory to targeted and antiangiogenic therapies used in patients with clearcell renal cell carcinoma. Dec 01, 2016 renal medullary carcinoma is a rare kidney cancer that mostly affects young people with african ancestry.
The tumor is almost exclusive to young black patients with the sickle cell hemoglobinopathies, mainly sickle cell trait sct. This website is intended for pathologists and laboratory personnel, who understand that medical information is imperfect and must be interpreted using reasonable medical judgment. The majority of rmcs 75 89% occur in the right kidney and are located in the renal medulla b. Renal medullary carcinoma rmc is a rare, aggressive primary renal malignancy that classically occurs in adolescent males with sickle cell trait and universally presents with metastatic disease. Renal medullary carcinoma xp11 tranlocation carcinomas carcinoma associated with medulloblastoma mucinous tubular abd spindle cell carcinoma renal cell carcinoma, unclassified papillary adenoma oncocytoma new and emerging tumors of the kidney t ub l ocyst ir n m carcinoma assiciated with end stage renal disease ol icu are n m clear cell. Renal medullary carcinoma is a recently described aggressive neoplasm of the kidney. Renal medullary carcinoma is considered a separate entity from collecting duct carcinoma. Since then, multiple cases of medullary carcinomas occurring in nonafrican americans without hemoglobinopathy were also reported, including a familial renal cancer occurrence. The presenting symptoms were macroscopic hematuria and flank pain. Cle ar cell renal carcinoma multilocular clear cell renal carcinoma. Renal cell carcinoma rcc is a kidney cancer that originates in the lining of the proximal convoluted tubule, a part of the very small tubes in the kidney that transport primary urine. Differentiation of papillary renal cell carcinoma subtypes. Imaging studies showed large renal masses with distant metastases. Expression of oct34 in renal medullary carcinoma represents a potential diagnostic pitfall.
Unlike the more common variants of renal cell carcinoma that arise from the convoluted tubules of the renal cortex, this aggressive malignancy is derived from the renal medulla, possibly from the distal collecting ducts of bellini. With the exception of 2 patients, all other reported cases have been associated with sickle cell hemoglobinopathies, mainly sickle cell trait and hemoglobin sc disease. Renal medullary carcinoma rmc is one of the most aggressive renal cell carcinomas. Cytologic features of renal medullary carcinoma assad. The cytologic features of renal medullary carcinoma are not specific. Renal medullary carcinoma rmc is a rare, yet aggressive malignancy of the kidney that is found.
Considered by some reports to be a variant of collecting duct carcinoma. Renal cell carcinoma rcc is the most common malignant genitourinary cancer in adults. It will frequently have an irregular or lobulated margin and may be seen as a lump on the lower pelvic or abdomen region. Welcome to the updated version of pathology for urologists. Rcc is a newly emerging hereditary cancer whose genomic features and renal pathology have been evaluated intensively over the 20. In april 2016, a small international group of investigators that represented pathology, pediatric and medical oncology, urology, nephrology, hematology, cancer genomics, and therapeutic development interests in rmc gathered in nashville, tennessee, to. Oct 29, 2018 renal medullary carcinoma is a rare and distinctive entity occurring almost exclusively in young patients with sickle cell trait or rarely other hemoglobinopathies. The purpose of our study was to characterize the imaging featur. Alexis elliott and evelyn bruner 2019 renal medullary carcinoma.
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