Hereditary leiomyomatosis and renal cell carcinoma: a case series and literature review
Abstract 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...
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| Format: | Article |
| Language: | English |
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BMC
2021-01-01
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| Series: | Orphanet Journal of Rare Diseases |
| Subjects: | |
| Online Access: | https://doi.org/10.1186/s13023-020-01653-9 |
| _version_ | 1818598657705902080 |
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| author | Zahraa Chayed Lone Krøldrup Kristensen Lilian Bomme Ousager Karina Rønlund Anette Bygum |
| author_facet | Zahraa Chayed Lone Krøldrup Kristensen Lilian Bomme Ousager Karina Rønlund Anette Bygum |
| author_sort | Zahraa Chayed |
| collection | DOAJ |
| description | Abstract 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. |
| first_indexed | 2024-12-16T12:07:11Z |
| format | Article |
| id | doaj.art-0298ad6359c747c3a916163b3187f695 |
| institution | Directory Open Access Journal |
| issn | 1750-1172 |
| language | English |
| last_indexed | 2024-12-16T12:07:11Z |
| publishDate | 2021-01-01 |
| publisher | BMC |
| record_format | Article |
| series | Orphanet Journal of Rare Diseases |
| spelling | doaj.art-0298ad6359c747c3a916163b3187f6952022-12-21T22:32:16ZengBMCOrphanet Journal of Rare Diseases1750-11722021-01-011611910.1186/s13023-020-01653-9Hereditary leiomyomatosis and renal cell carcinoma: a case series and literature reviewZahraa Chayed0Lone Krøldrup Kristensen1Lilian Bomme Ousager2Karina Rønlund3Anette Bygum4Department of Clinical Research, University of Southern DenmarkDepartment of Clinical Genetics, Odense University HospitalDepartment of Clinical Genetics, Odense University HospitalDepartment of Clinical Genetics, Vejle HospitalDepartment of Dermatology and Allergy Centre, Odense University HospitalAbstract 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.https://doi.org/10.1186/s13023-020-01653-9Hereditary leiomyomatosis and renal cell carcinomaHLRCCSurveillance program |
| spellingShingle | Zahraa Chayed Lone Krøldrup Kristensen Lilian Bomme Ousager Karina Rønlund Anette Bygum Hereditary leiomyomatosis and renal cell carcinoma: a case series and literature review Orphanet Journal of Rare Diseases Hereditary leiomyomatosis and renal cell carcinoma HLRCC Surveillance program |
| title | Hereditary leiomyomatosis and renal cell carcinoma: a case series and literature review |
| title_full | Hereditary leiomyomatosis and renal cell carcinoma: a case series and literature review |
| title_fullStr | Hereditary leiomyomatosis and renal cell carcinoma: a case series and literature review |
| title_full_unstemmed | Hereditary leiomyomatosis and renal cell carcinoma: a case series and literature review |
| title_short | Hereditary leiomyomatosis and renal cell carcinoma: a case series and literature review |
| title_sort | hereditary leiomyomatosis and renal cell carcinoma a case series and literature review |
| topic | Hereditary leiomyomatosis and renal cell carcinoma HLRCC Surveillance program |
| url | https://doi.org/10.1186/s13023-020-01653-9 |
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