Unclassified Renal Cell Carcinoma With Medullary Phenotype Versus Renal Medullary Carcinoma: Lessons From Diagnosis in an Italian Man Found to Harbor Sickle Cell Trait

Colombo, Piergiuseppe; Smith, Steven C.; Massa, Simona; Renne, Salvatore Lorenzo; Brambilla, Sônia Domingues Santos; Peschechera, Roberto; Graziotti, P.; Roncalli, Massimo; Amin, Mahul B.

doi:10.1016/j.eucr.2015.07.011

Cited by 11 publications

(10 citation statements)

References 4 publications

(13 reference statements)

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“…36 On gross pathologic review, RMC is an infiltrative tumor that extends from the renal pelvis. Histologically, these tumors comprise sheets of poorly differentiated cells commonly found to have a reticular growth pattern and adenoid cystic component with an infiltrate of neutrophils 35,37,38 (Fig 1A). Visualization of sickled RBCs in the specimen is pathognomonic for this disease.…”

Section: Diagnosis Of Rmcmentioning

confidence: 99%

Renal Medullary Carcinoma: Establishing Standards in Practice

Beckermann

Sharma

Chaturvedi

et al. 2017

JOP

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Although renal medullary carcinoma (RMC) is a rare subtype of kidney cancer, it is particularly devastating in that it is nearly uniformly lethal. No established guidelines exist for the diagnosis and management of RMC. In April 2016, a panel of experts developed clinical guidelines on the basis of a literature review and consensus statements. The goal was to propose recommendations for standardized diagnostic and management approaches and to establish an international clinical registry and biorepository for RMC. Published data are limited to case reports and small retrospective reviews. The RMC Working Group prepared recommendations to inform providers and patients faced with a low level of medical evidence. The diagnosis of RMC should be considered in all patients younger than 50 years with poorly differentiated carcinoma that arises from the renal medulla. These patients should be tested for sickle cell hemoglobinopathies, and if positive, SMARCB1/INI1 loss should be confirmed by immunohistochemistry. The majority of patients with RMC are diagnosed with metastatic disease. Upfront radical nephrectomy should be considered in patients with good performance status and low metastatic burden or after response to systemic therapy. Currently, cytotoxic, platinum-based chemotherapy provides the best, albeit brief, palliative clinical benefit. Vascular endothelial growth factor-directed therapies and mammalian target of rapamycin inhibitors are ineffective in RMC as monotherapy. Therapeutic trials of novel agents are now available for RMC, and every effort should be made to enroll patients in clinical studies.

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Section: Diagnosis Of Rmcmentioning

confidence: 99%

Renal Medullary Carcinoma: Establishing Standards in Practice

Beckermann

Sharma

Chaturvedi

et al. 2017

JOP

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“…It mostly arises in the right kidney and as suggested by its nomenclature, from the renal medulla where red blood cells’ sickling is prominent [ 3 ]. To date, RMC has been reported in predominantly patients of African descent although there have been cases described in Caucasians and Han Chinese patients [ 3 – 5 ]. Such predominance in the African descent population is due to the prevalence of SCT and SCD, 1/12 and 1/500 respectively [ 6 ].…”

Section: Introductionmentioning

confidence: 99%

Predictive role of PD-L1 expression in the response of renal Medullary carcinoma to PD-1 inhibition

Sodji¹,

Klein²,

Sravan³

et al. 2017

j. immunotherapy cancer

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BackgroundRenal medullary carcinoma is one of the rarest malignancies arising from the kidney. Despite various aggressive therapeutic regimens, mortality remains significantly high (95%) with a median overall survival of 5 months. Furthermore, the scarcity of this malignancy renders randomized clinical trials impossible. We examined the expression of programmed death ligand 1 (PD-L1) in two new renal medullary carcinoma cases, investigated their responses to the PD-L1 inhibitor nivolumab and explored the predictive role of the rate of PD-L1 expression in such response.Case presentationTwo African-American patients (male and female) with sickle cell trait who presented to our center with hematuria and flank pain were diagnosed with metastatic renal medullary carcinoma. PD-L1 was expressed at rate of 25% and 60% in patient 1 and 2 respectively. Following nephrectomy, they were started on nivolumab. Patient 1 initially responded to the treatment with regression of metastatic lesions. However, following this early response, patient 1 who has been receiving nivolumab for more than 15 months, was noted to have a disease progression. Patient 2 had disease progression after 3 months of nivolumab therapy.ConclusionsAlthough PD-L1 is expressed in these patients with renal medullary carcinoma, response to nivolumab was only observed in patient 1 whose tumor has the lowest rate of PD-L1 expression. This may suggest that in RMC, response to PD-L1 inhibition therapy may not correlate with the rate of PD-L1 expression.

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“…Loss of SMARCB1/INI-1 protein expression and presence of OCT3/4 on immunohistochemistry in RMC can help distinguish RMC from collecting duct carcinoma [ 11 ]. “Unclassified renal cell carcinoma with medullary features” was suggested by Colombo et al [ 16 ] for those patients who meet immunohistochemistry profile for RMC but do not have sickle cell trait.…”

Section: Discussionmentioning

confidence: 99%

Renal Medullary Carcinoma with an Aggressive Clinical Course: A Case Report and Review of the Literature

Kalavar

Ali²,

Safarpour³

et al. 2017

Case Rep Oncol

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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 specifically sickle cell trait. Due to its aggressive nature, most cases have metastasis or local invasion at the time of diagnosis. Prognosis is extremely poor with survival less than 1 year after diagnosis. Here we present a case of metastatic RMC in a 29-year-old African female. Despite chemotherapy with cisplatin, gemcitabine, and paclitaxel, and initial shrinkage of the tumor, the patient died 5 months after diagnosis.

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Unclassified Renal Cell Carcinoma With Medullary Phenotype Versus Renal Medullary Carcinoma: Lessons From Diagnosis in an Italian Man Found to Harbor Sickle Cell Trait

Cited by 11 publications

References 4 publications

Renal Medullary Carcinoma: Establishing Standards in Practice

Renal Medullary Carcinoma: Establishing Standards in Practice

Predictive role of PD-L1 expression in the response of renal Medullary carcinoma to PD-1 inhibition

Renal Medullary Carcinoma with an Aggressive Clinical Course: A Case Report and Review of the Literature

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