Vulvar squamous cell carcinoma associated with Fanconi’s anemia

Mousavi, Azamsadat; Abbasi, Fatemeh; Abadi, Akram Ghahghai Nezam; Hashemi, Fatemeh

doi:10.1007/s12185-010-0525-9

Cited by 10 publications

(9 citation statements)

References 9 publications

(8 reference statements)

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“…The cancers of the lower reproductive tract are rare. The literature regarding cancers of the vagina and lower reproductive tract in Fanconi anaemia is limited to case reports ( Arnold et al, 1980 , Carvalho et al, 2002 , Dinh et al, 1988 , Han et al, 2009 , Harper et al, 2004 , Kennedy and Hart, 1982 , Mousavi et al, 2010 , Ortonne et al, 1981 , Quiñonero et al, 2020 , Roginsky et al, 2004 , Swift et al, 1971 , Wilkinson et al, 1984 ).…”

Section: Discussionmentioning

confidence: 99%

Vulvar carcinoma in Fanconi Anaemia: A case report with review of literature

Visweswaran

Jayamohanan

Rajanbabu

et al. 2021

Gynecologic Oncology Reports

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Highlights Fanconi anaemia is a rare autosomal recessive disorder characterised by severe pancytopenia and congenital malformations. Fanconi anaemia patients are at high risk of developing squamous cell cancers in the female reproductive tract. Surgery is the best approach in treating Fanconi anaemia malignancies. Chemotherapy and radiotherapy in Fanconi anaemia is difficult due to high risk of severe side effects. Chemotherapy and radiotherapy in Fanconi anaemia must be administered with extreme caution and in lower doses.

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Section: Discussionmentioning

confidence: 99%

Vulvar carcinoma in Fanconi Anaemia: A case report with review of literature

Visweswaran

Jayamohanan

Rajanbabu

et al. 2021

Gynecologic Oncology Reports

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“…Some reported cases were also strangely diagnosed during pregnancy [18][19][20]. Moreover, other reported cases were diagnosed in the setting of an associated immune mediated disease like Crohn's disease [21], systemic lupus erythematosus (SLE) [22], Recurrent Bone Marrow Hypoplasia [23] or Fanconi anemia [24].…”

Section: Discussionmentioning

confidence: 99%

Negative p53 expression and negative high risk HPV in a 26-year-old lady with vulvar keratinizing squamous cell carcinoma: report of a case

2020

European Journal of Gynaecological Oncology

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Vulvar intraepithelial neoplasia (VIN) and human papilloma virus (HPV) are the main pathways for development of vulvar carcinoma in young women. While, non-HPV associated pathway is the usual pattern seen in postmenopausal women. Herein, the authors report a case of 26-year-old lady with keratinizing vulvar squamous cell carcinoma (SCC), in which vulvar intraepithelial neoplasia (VIN) of the simplex type and p53 expression were absent. Moreover, no high risk HPV was detected by the highly sensitive real time-polymerase chain reaction (RT-PCR) technology on the paraffin embedded tumor tissue. Therefore, in addition to the patient's young age, she had morphologic and molecular patterns that are usually seen in elderly women. The authors believe that this is an unusual presentation in such a very young lady. The cause of this cancer in this case is not completely understood and indicates the necessity to sample any suspicious lesions at this site at any age.

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“…These genes are named after patients with Fanconi Anemia (FA), which is a recessively inherited disease that is characterized by congenital abnormalities, aplastic anemia and a predisposition for the development of cancer, particularly HPV‐related squamous cell carcinomas. The development of these carcinomas in patients with FA is described in a number of case‐reports 26–29. This increased risk for tumor development seems to be caused by FA deficiency in the DNA damage response pathway 30, 31.…”

Section: Discussionmentioning

confidence: 99%

Different DNA damage and cell cycle checkpoint control in low‐ and high‐risk human papillomavirus infections of the vulva

Santegoets

Baars

Terlou

et al. 2011

Intl Journal of Cancer

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Human papillomavirus (HPV) infections may result in benign hyperplasia, caused by low-risk HPV types, or (pre)malignant lesions caused by high-risk HPV types. The molecular basis of this difference in malignant potential is not completely understood. Here, we performed gene profiling of different HPV infected vulvar tissues (condylomata acuminata (n 5 5), usual type vulvar intraepithelial neoplasia (uVIN) (n 5 9)) and control samples (n 5 14) using Affymetrix Human U133A plus 2 GeneChips. Data were analyzed using OmniViz V R , Partek V R and Ingenuity V R Software. Results were validated by real-time RT-PCR and immunostaining. Although similarities were observed between gene expression profiles of low-and high-risk HPV infected tissues (e.g., absence of estrogen receptor in condylomata and uVIN), high-risk HPV infected tissues showed more proliferation and displayed more DNA damage than tissues infected with low-risk HPV. These observations were confirmed by differential regulation of cell cycle checkpoints and by increased expression of DNA damage-biomarkers p53 and cH2AX. Furthermore, FANCA, FANCD2, BRCA1 and RAD51, key players in the DNA damage response, were significantly upregulated (p < 0.05). In addition, we compared our results with publicly available gene expression profiles of various other HPV-induced cancers (vulva, cervix and head-and-neck). This showed p16 INK4a was the most significant marker to detect a high-risk HPV infection, but no other markers could be found. In conclusion, this study provides insight into the molecular basis of low-and high-risk HPV infections and indicates two main pathways (cell cycle and DNA damage response) that are much stronger affected by high-risk HPV as compared to low-risk HPV.Worldwide, human papillomavirus (HPV) is the most common sexually transmitted infection, with an 80% life-time infection risk. 1 Fortunately, the majority of these HPV infections ($ 90%) are cleared within one to two years, without further consequences for the host. 2 Persistent infections, however, are a well-established risk factor for a large spectrum of epithelial lesions, ranging from benign hyperplasia, caused by low-risk HPV types, to (pre)malignant lesions caused by high-risk HPV types.The best known high-risk HPV related disorder is the second most common cancer in women, namely cervical cancer, with 500,000 new cases each year worldwide resulting in 250,000 deaths every year. 3 Persistent HPV infections have also been associated with other anogenital squamous cell carcinomas, including vulvar, vaginal, anal and penile cancers and their precursors. Furthermore, recent epidemiological, molecular and clinical evidence indicate that high-risk HPV (especially HPV type 16) accounts for the development of approximately 20-30% of squamous cell carcinomas of the head-and-neck. 4,5 The molecular basis of the difference in malignant potential between low-and high-risk HPV infections is not

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Vulvar squamous cell carcinoma associated with Fanconi’s anemia

Cited by 10 publications

References 9 publications

Vulvar carcinoma in Fanconi Anaemia: A case report with review of literature

Vulvar carcinoma in Fanconi Anaemia: A case report with review of literature

Negative p53 expression and negative high risk HPV in a 26-year-old lady with vulvar keratinizing squamous cell carcinoma: report of a case

Different DNA damage and cell cycle checkpoint control in low‐ and high‐risk human papillomavirus infections of the vulva

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