A Multiple Primary Malignancy Patient With FANCA Gene Mutation: A Case Report and Literature Review

Xia, Qing; Yan, Yi–Dan; Yuan, Ling; Di, Ying-San; Xiao, Xiuying

doi:10.3389/fonc.2020.01199

Cited by 9 publications

(5 citation statements)

References 26 publications

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“…The authors speculated that because FANCA is involved in mismatch repair, it can increase the mutational rate and lead to the development of multiple tumours. We propose that a similar effect could have caused the metastatic behaviour of ameloblastoma in our study [ 55 ]. To our knowledge, this is a first report of a mutation in this gene in a patient with ameloblastic tumour.…”

Section: Discussionmentioning

confidence: 71%

Metastasising ameloblastoma or ameloblastic carcinoma? A case report with mutation analyses

et al. 2023

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Background Ameloblastic carcinoma and metastasising ameloblastoma are rare epithelial odontogenic tumours with aggressive features. Distinguishing between these two lesions is often clinically difficult but necessary to predict tumour behaviour or to plan future therapy. Here, we provide a brief review of the literature available on these two types of lesions and present a new case report of a young man with an ameloblastoma displaying metastatic features. We also use this case to illustrate the similarities and differences between these two types of tumours and the difficulties of their differential diagnosis. Case presentation Our histopathological analyses uncovered a metastasising tumour with features of ameloblastic carcinoma, which developed from the ameloblastoma. We profiled the gene expression of Wnt pathway members in ameloblastoma sample of this patient, because multiple molecules of this pathway are involved in the establishing of cell polarity, cell migration or for epithelial–mesenchymal transition during tumour metastasis to evaluate features of tumor behaviour. Indeed, we found upregulation of several cell migration–related genes in our patient. Moreover, we uncovered somatic mutation BRAF p.V600E with known pathological role in cancerogenesis and germline heterozygous FANCA p.S858R mutation, whose interpretation in this context has not been discussed yet. Conclusions In conclusion, we have uncovered a unique case of ameloblastic carcinoma associated with an alteration of Wnt signalling and the presence of BRAF mutation. Development of harmful state of our patient might be also supported by the germline mutation in one FANCA allele, however this has to be confirmed by further analyses.

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Section: Discussionmentioning

confidence: 71%

Metastasising ameloblastoma or ameloblastic carcinoma? A case report with mutation analyses

et al. 2023

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“…Although germline mutations in FANC genes have been reported to increase risk for developing both hematological and solid cancers (32)(33)(34), their roles in tumorigenesis of multiple primary malignancies are largely unknown. A previous case study demonstrated that a germline FANCA mutation (p.Q405*) might be a predisposition to double primary malignancies of thyroid cancer gastric adenocarcinoma (35). These findings suggest that FANCA mutations may be a risk factor for multiple primary malignancies.…”

Section: Casementioning

confidence: 80%

Clinical and genetic characteristics in lymphoma patients with a second solid malignancy

et al. 2023

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Diagnosis and treatment of multiple primary malignancies are becoming a new challenge in clinical practice worldwide. The present study aimed to characterize the clinical and genetic features of multiple primary malignancies in patients with synchronous or metachronous lymphoma and another solid tumor. We retrospectively analyzed 11 cases with lymphoma and another solid tumor. The germline mutations in plasma cell-free DNA samples and somatic mutations in lymphoma and solid tumor tissue samples were identified using targeted next-generation sequencing. In the 11 lymphoma patients, the most common type of concurrent solid tumor was colon adenocarcinoma (case 3, 5, 9 11) followed by papillary thyroid carcinoma (case 1, 7, 10). Metachronous lymphoma and solid tumor in 6 patients were treated with corresponding standard therapy asynchronously. Chemotherapy for colon adenocarcinoma during the interval of lymphoma chemotherapy led to excellent outcome in two patients. Immediate chemotherapy for lymphoma plus elective surgery for synchronous papillary thyroid carcinoma also yielded good prognosis in two patients with synchronous double primaries. Interestingly, we found that 10 of 11 patients with lymphoma and another solid tumor harbored germline mutations in Fanconi anemia complementation group (FANC) genes, including FANCI, FANCA, FANCG, FANCL, FANCD1, FANCF, FANCJ, and FANCS. In summary, comprehensive study of the clinical and genetic features of patients with multiple primary malignancies may improve diagnosis and treatment in the future. Mutations in FANC genes might be a predisposition to tumorigenesis of lymphoma patients with a second solid malignancy.

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“…Therefore, tislelizumab might be a promising treatment option for mUC patients with PD-L1-negative, MSS and TMB-H. Germline mutation of FANCA was found in our case. Germline FANCA mutation is the most prevalent in patients with Fanconi anemia (FA) but is less reported in patients with solid tumors [9]. Heterozygous FANCA mutation increases the susceptibility to cancers in a sporadic manner in non-FA patients [10].…”

Section: Discussionmentioning

confidence: 99%

Complete response to tislelizumab in a metastatic urothelial carcinoma after surgery associated with high tumor mutational burden: a case report

Jin

Yang

et al. 2022

Anti-Cancer Drugs

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Metastatic urothelial carcinoma (mUC) is associated with poor prognosis. Cisplatin-based combination chemotherapy is the preferred initial regimen for patients with mUC. However, a substantial proportion of patients cannot receive cisplatin-based chemotherapy due to renal impairment or other comorbidities. Currently, immune checkpoint inhibitors (ICI) showed to be effective in cisplatin-ineligible mUC patients on first-line treatment. Tislelizumab is an anti-human programmed death receptor-1 monoclonal IgG4 antibody, which was specifically engineered to minimize binding to FcɣR on macrophages to abrogate antibody-dependent phagocytosis. But there is no report of tislelizumab as a first-line treatment for cisplatin-ineligible patients with mUC currently. Here, we report a cisplatin-ineligible mUC patient with PD-L1-negative, microsatellite stable (MSS), high tumor mutational burden (TMB-H) obtained complete response receiving tislelizumab therapy after laparoscopic debulking surgery. Progression-free survival has exceeded 16 months since treatment with tislelizumab. To our knowledge, this is the first reported case of cisplatin-ineligible mUC patient with PD-L1-negative, MSS and TMB-H who responded well to tislelizumab as a first-line treatment. However, we still need more studies to assess the efficacy of tislelizumab as a first-line treatment in cisplatin-ineligible mUC patients and to confirm predictive values of TMB for efficacy of tislelizumab.

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A Multiple Primary Malignancy Patient With FANCA Gene Mutation: A Case Report and Literature Review

Cited by 9 publications

References 26 publications

Metastasising ameloblastoma or ameloblastic carcinoma? A case report with mutation analyses

Metastasising ameloblastoma or ameloblastic carcinoma? A case report with mutation analyses

Clinical and genetic characteristics in lymphoma patients with a second solid malignancy

Complete response to tislelizumab in a metastatic urothelial carcinoma after surgery associated with high tumor mutational burden: a case report

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