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Renal cancer
Published in Anju Sahdev, Sarah J. Vinnicombe, Husband & Reznek's Imaging in Oncology, 2020
Conrad von Stempel, Lee Alexander Grant, Miles Walkden, Navin Ramachandran
Renal medullary carcinoma is a rare RCC seen almost exclusively in young patients (<40 year old) with sickle-cell trait. The chronic hypoxic environment in the medulla of these patients is thought to promote transitional epithelial proliferation in the terminal collecting system. On imaging, medullary carcinoma is associated with ectatic calyces and tumours are infiltrative and appear heterogeneous from central necrosis and haemorrhage (122).
Renal Cancer
Published in Manit Arya, Taimur T. Shah, Jas S. Kalsi, Herman S. Fernando, Iqbal S. Shergill, Asif Muneer, Hashim U. Ahmed, MCQs for the FRCS(Urol) and Postgraduate Urology Examinations, 2020
Nilay Patel (deceased), Vinodh Murali, David Cranston
Collecting duct RCCs are rare tumours that comprise 0.4%–1.8% of all RCCs. Renal medullary carcinoma (RMC) is almost exclusively seen in patients with sickle cell disease or trait. CDCs have a tubulo-papillary architecture that consists of dilated tubules and papillary structures lined by a single layer of cuboidal cells. CDC characteristically co-express low- and high- molecular-weight cytokeratins and react positively to Ulex europaeus.
Pathology and systemic therapy of non-clear cell renal cell carcinoma: an overview
Published in Expert Review of Anticancer Therapy, 2021
Lothar Bergmann, Sarah Weber, Arndt Hartmann, Marit Ahrens
Renal tumors with a defect in the SWItch-sucrose-non-fermentable (SWI-/SNF) complex, which results in a loss of the expression of SMARCB1/INI, can occur in the context of three different clinical settings [36]. In rhabdoid tumor predisposition syndromes, malignant rhabdoid tumors occur especially in children or young adults. These tumors show a very aggressive growth pattern and frequent metastasis. The tumor cells display a solid or spindle cell growth, with large polygonal cells and rhabdoid morphology. Histopathological features include extensive tumor necrosis, prominent nucleoli and high mitotic activity. Immunohistochemically, these tumors have an obligate complete nuclear loss of SMARCB1/INI expression [36].Renal medullary carcinoma is found in young adults in association with the sickle cell trait and other hemoglobinopathies. The tumors occur in the renal medulla and show again an obligate expression loss of SMARCBI/INI and a poor prognosis [37].Dedifferentiated and undifferentiated RCC (NOS) often show a loss of SMARCB1/INI expression. The newly defined entity of a SMARCB1/INI-deficient RCC includes these tumors, seeking to allow further insight into their biology and molecular genetics.
Molecular characterization and diagnostic criteria of renal cell carcinoma with emphasis on liquid biopsies
Published in Expert Review of Molecular Diagnostics, 2020
Alessia Cimadamore, Francesco Massari, Matteo Santoni, Veronica Mollica, Vincenzo Di Nunno, Liang Cheng, Antonio Lopez-Beltran, Marina Scarpelli, Rodolfo Montironi, Holger Moch
Among rare RCC, collecting duct carcinoma (CDC) is characterized by common mutation, also found in other histotypes, such as in NF2, SETD2, SMARCB1, FH, and CDKN2A [39]. Renal Medullary carcinoma is a rare and distinctive entity characterized by loss of heterozygosity (LOH) and balanced translocations or biallelic loss of SMARCB1/INI1 tumor suppressor protein [40]. Hereditary leiomyomatous and RCC syndrome (HLRCC) patients is linked to a germline mutation in the fumarate hydratase (FH) gene [41]. These tumors are characterized by aggressive clinical behavior, and adverse morphologic features [14] and represent separate tumor entities in 2016 WHO classification (Table 1).
Refractory acquired thrombotic thrombocytopenic purpura in a patient with sickle cell trait successfully treated with caplacizumab
Published in Hematology, 2021
Vibhuti Aggarwal, Zachary Singer, Donna Ledingham, Ibraheem Othman
Sickle cell disease is caused by a point mutation in the beta globin gene which renders the resultant hemoglobin tetramer poorly soluble when deoxygenized (hemoglobin S). Whereas sickle cell disease is due to homozygous mutations of beta globin, sickle cell trait is a heterozygous condition with one mutant and one wild-type allele [4]. Symptoms of sickle cell trait are relatively benign; however, patients are at increased risk for pulmonary embolism and exertional rhabdomyolysis [4,5]. Additionally, renal medullary carcinoma is almost exclusively seen in patients with sickle cell trait [6].