Renal Medullary Carcinoma in a White Adolescent With Sickle Cell Trait

Daher, P.; Bourgi, Ali; Riachy, Edward; Khoury, Antoine E.; Rehayem, Caline; Sader-Ghorra, Claude

doi:10.1097/mph.0000000000000118

Cited by 6 publications

(6 citation statements)

References 29 publications

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“…Tumors were usually identified with either contrast‐enhanced computed tomography (CT) or magnetic resonance imaging (MRI) during investigations for suspected tumors. Positron emission tomography was used to evaluate for metastatic disease in at least two cases . Figure presents abdominal CT images of a right kidney mass with lymphatic spread.…”

Section: Resultsmentioning

confidence: 99%

“…Beginning in 1995, 64 articles have been published in the world medical literature describing cases of RMC for a total of 213 cases. There are now 217 including our four cases summarized on Table .…”

Section: Resultsmentioning

confidence: 99%

“…Positron emission tomography was used to evaluate for metastatic disease in at least two cases. [62,73] Figure 1 presents abdominal CT images of a right kidney mass with lymphatic spread.…”

Section: Clinical Presentation and Diagnostic Evaluationmentioning

confidence: 99%

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Renal medullary carcinoma and sickle cell trait: A systematic review

Álvarez

Rodríguez

Jordan

et al. 2015

Pediatr Blood Cancer

105

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Sickle cell trait (SCT) carries a small risk of renal medullary carcinoma (RMC). We conducted a systematic literature review and reported new four RMC cases (total N = 217). Eighty eight percent had SCT and 8% had sickle cell disease; 50% were children. Males had 2.4× risk than females. Isolated hematuria or in combination with abdominal or flank pain was the presenting sign in 66% cases. Tumor-related mortality was 95%. Four non-metastatic patients were long-term disease-free survivors. Although risk appears to be very low, individuals with SCT should be informed about the low risk of RMC with the hope of early diagnosis. Hematuria should prompt immediate investigation.

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Section: Resultsmentioning

confidence: 99%

Section: Resultsmentioning

confidence: 99%

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Renal medullary carcinoma and sickle cell trait: A systematic review

Álvarez

Rodríguez

Jordan

et al. 2015

Pediatr Blood Cancer

105

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“…Reports in the medical literature are generally confined to small series or case reports, including a small number in individuals without SCT or sickle cell disease. 16,[47][48][49] However, given the rarity of RMC coupled with its ambiguous definition and rapidly fatal clinical course, the true incidence remains unclear. In addition, although most cases of RMC have been described in association with SCT for more than two decades, our understanding of the shared biology and epidemiology between these two conditions remains limited.…”

Section: Development Of An International Registry Of Patients With Rmmentioning

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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“…Renal medullary carcinoma was reported more often in sickle cell trait than in SCD [69][70][71][72][73].…”

Section: Solid Tumorsmentioning

confidence: 99%

Comorbidities in aging patients with sickle cell disease

Ballas

2018

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Sickle cell disease (SCD) in general and sickle cell anemia in particular is a highly complex disorder both at the molecular and clinical levels. Although the molecular lesion is a single-point mutation, the sickle gene is pleiotropic in nature causing multiple phenotypic expressions that constitute the various complications of the disease. Moreover, despite the fact that SCD is a chronic malady, its manifestations are both acute and chronic. The former include, among other things, the recurrent vaso-occlusive crises (its hallmark) and acute chest syndrome. The chronic complications include most commonly avascular necrosis and leg ulcers. Currently, survival of patients with SCD has improved dramatically thanks to newborn screening, antibiotic prophylaxis, better vaccine, safer blood transfusion and the use of hydroxyurea. It is the advent of these therapies that improved the survival. This improvement, however, introduced a third dimension of the disease: comorbidities that occur in aging people in the general population. There is concern that the gain in survival may be offset by the comorbidities. Thus it is the purpose of this review to identify the comorbidities in the elderly with SCD and differentiate them from the basis disease to implement proper therapies so that better survival could be maintained.

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Renal Medullary Carcinoma in a White Adolescent With Sickle Cell Trait

Cited by 6 publications

References 29 publications

Renal medullary carcinoma and sickle cell trait: A systematic review

Renal medullary carcinoma and sickle cell trait: A systematic review

Renal Medullary Carcinoma: Establishing Standards in Practice

Comorbidities in aging patients with sickle cell disease

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