Renal cell carcinoma in young FH mutation carriers: case series and review of the literature

Hol, Janna A.; Jongmans, Marjolijn C.J.; Littooij, Annemieke S.; Krijger, Ronald R. de; Kuiper, Roland P.; Harssel, J. J. T. van; Mensenkamp, Arjen R.; Simons, Milton; Tytgat, Godelieve A.M.; Heuvel‐Eibrink, Marry M. van den; Grotel, Martine van

doi:10.1007/s10689-019-00155-3

Cited by 35 publications

(35 citation statements)

References 34 publications

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“…Furthermore, syndromes such as von Hippel–Lindau ( VHL gene) and tuberous sclerosis complex ( TSC1 and TSC2 genes) can be associated with RCC [ 5 , 6 , 40 ]. These are among a variety of genes and syndromes associated with RCC, including Birt–Hogg–Dubé (FLCN gene) and hereditary leiomyomatosis and renal cell cancer ( FH gene) ( Table S6 : Genes and syndromes associated with RCC) [ 57 , 58 , 59 , 60 ]. Further analysis of the influence of these associations in pediatric RCC was beyond the scope of this paper.…”

Section: Discussionmentioning

confidence: 99%

Characteristics and Outcome of Children with Renal Cell Carcinoma: A Narrative Review

Beek

Geller

Krijger

et al. 2020

Cancers

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Pediatric renal cell carcinoma (RCC) is a rare type of kidney cancer, most commonly occurring in teenagers and young adolescents. Few relatively large series of pediatric RCC have been reported. Knowledge of clinical characteristics, outcome and treatment strategies are often based on the more frequently occurring adult types of RCC. However, published pediatric data suggest that clinical, molecular and histological characteristics of pediatric RCC differ from adult RCC. This paper summarizes reported series consisting of ≥10 RCC pediatric patients in order to create an up-to-date overview of the clinical and histopathological characteristics, treatment and outcome of pediatric RCC patients.

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Section: Discussionmentioning

confidence: 99%

Characteristics and Outcome of Children with Renal Cell Carcinoma: A Narrative Review

Beek

Geller

Krijger

et al. 2020

Cancers

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“…Menko et al recommends that decisions about renal surveillance before the age of 18 years should be made on an individual basis [ 17 ]. However, we found four patients in our study who developed RCC before the age of 20, the youngest being 11 years old, while a recent review identified 7 more patients, the youngest being 10 years old, which is why we will also recommend starting the screening program at the age of 10 years [ 24 ]. The method for surveillance should be annual contrast enhanced MRI of the kidneys [ 2 – 4 ].…”

Section: Discussionmentioning

confidence: 99%

Hereditary leiomyomatosis and renal cell carcinoma: a case series and literature review

Chayed

Kristensen

Ousager

et al. 2021

Orphanet J Rare Dis

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Background Hereditary leiomyomatosis and renal cell carcinoma (HLRCC) is a rare genodermatosis characterized by cutaneous leiomyoma (CLM), uterine leiomyoma (ULM) and renal cell carcinoma (RCC). Five HLRCC patients are presented with a compiled database of published HLRCC cases to increase understanding of HLRCC. Furthermore, a surveillance program is suggested. Our review is based on a PubMed search which retrieved case reports and cohort studies published before November 2019. The search yielded 97 original papers with a total of 672 HLRCC patients. Results CLMs were present in 474 patients (71.5%), developed at the mean age of 28 years. Five patients had cutaneous leiomyosarcomas. ULMs were present in 356 women (83%), while two had uterine leiomyosarcoma. ULMs were diagnosed at a mean age of 32 years, with the youngest diagnosed at age 17 years. The most common surgical treatment for ULMs was hysterectomy, performed at a mean age of 35 years, with the youngest patient being 19 years old. RCCs were present in 189 patients (34.9%), of which half had metastatic disease. The mean age of diagnosis was 36 years with the youngest patient diagnosed with RCC at the age of 11 years. Conclusion We suggest a surveillance program for HLRCC including a dermatological examination once every 2 years, annual magnetic resonance imaging starting at the age of 10 years to monitor for early RCCs, annual gynecological examinations from the age of 15 years and counseling regarding risk of hysterectomy and family planning at the age of 18 years. CLMs are often the earliest manifestation of HLRCC, which is why recognizing these lesions, performing a biopsy, and making a prompt referral to genetic counseling is important in order to diagnose HLRCC early.

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“…In HLRCC subjects the most frequent age of RCC development is 40–50 years. In a minority of FH-deficient patients RCC development occurs in patients aged younger than 20 years; a significant proportion of these young patients exhibited a metastatic disease [ 71 ].…”

Section: Succinate Dehydrogenase (Sdh) and Fumarate Hydratase (Fh)mentioning

confidence: 99%

Genetic Alterations in Renal Cancers: Identification of The Mechanisms Underlying Cancer Initiation and Progression and of Therapeutic Targets

Testa

Castelli

2020

Medicines

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Renal cell cancer (RCC) involves three most recurrent sporadic types: clear-cell RCC (70–75%, CCRCC), papillary RCCC (10–15%, PRCC), and chromophobe RCC (5%, CHRCC). Hereditary cases account for about 5% of all cases of RCC and are caused by germline pathogenic variants. Herein, we review how a better understanding of the molecular biology of RCCs has driven the inception of new diagnostic and therapeutic approaches. Genomic research has identified relevant genetic alterations associated with each RCC subtype. Molecular studies have clearly shown that CCRCC is universally initiated by Von Hippel Lindau (VHL) gene dysregulation, followed by different types of additional genetic events involving epigenetic regulatory genes, dictating disease progression, aggressiveness, and differential response to treatments. The understanding of the molecular mechanisms that underlie the development and progression of RCC has considerably expanded treatment options; genomic data might guide treatment options by enabling patients to be matched with therapeutics that specifically target the genetic alterations present in their tumors. These new targeted treatments have led to a moderate improvement of the survival of metastatic RCC patients. Ongoing studies based on the combination of immunotherapeutic agents (immune check inhibitors) with VEGF inhibitors are expected to further improve the survival of these patients.

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Renal cell carcinoma in young FH mutation carriers: case series and review of the literature

Cited by 35 publications

References 34 publications

Characteristics and Outcome of Children with Renal Cell Carcinoma: A Narrative Review

Characteristics and Outcome of Children with Renal Cell Carcinoma: A Narrative Review

Hereditary leiomyomatosis and renal cell carcinoma: a case series and literature review

Genetic Alterations in Renal Cancers: Identification of The Mechanisms Underlying Cancer Initiation and Progression and of Therapeutic Targets

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