Familial Cancer最新文献

Optimizing MRI sequences and apparent diffusion coefficient parameters for small pancreatic ductal adenocarcinoma detection.

IF 1.8 4区医学

Familial Cancer Pub Date : 2025-03-07 DOI: 10.1007/s10689-025-00447-x

Naoko Mori

引用次数: 0

Addressing uncertainty in hereditary colorectal cancer: the role of a regional expert multidisciplinary team meeting.

IF 1.8 4区医学

Familial Cancer Pub Date : 2025-03-06 DOI: 10.1007/s10689-025-00451-1

Avani Varde, Terri McVeigh, Vicky Cuthill, Angela F Brady, Bianca DeSouza, Andrew Latchford, Kevin J Monahan

{"title":"Addressing uncertainty in hereditary colorectal cancer: the role of a regional expert multidisciplinary team meeting.","authors":"Avani Varde, Terri McVeigh, Vicky Cuthill, Angela F Brady, Bianca DeSouza, Andrew Latchford, Kevin J Monahan","doi":"10.1007/s10689-025-00451-1","DOIUrl":"10.1007/s10689-025-00451-1","url":null,"abstract":"There is frequent uncertainty in both the precise quantification of risk, and the application of clinical interventions, designed to mitigate increased heritable colorectal cancer (CRC) susceptibility. We evaluated the role of a collaborative specialist multidisciplinary team meeting (MDM) for familial and hereditary CRC, led by the St Mark's Hospital Centre for Familial Intestinal Cancer specifically in supporting the clinical management of uncertainty. A retrospective thematic analysis of meeting outcomes from inception in June 2020 until March 2023 was performed. Descriptive statistics were employed to ascertain clinicopathological data, clinical queries and whether MDM recommendations were outside the scope of current guidelines. In total 260 cases were discussed from 13 regional institutions. A prior personal history of cancer was present in 215 (82.6%), and a family history of CRC in 107(41.2%) and non-CRC 27(10.4%) cases. In thematic analysis uncertainty related to indications for genetic testing was considered in 148 (56.9%) of cases, with unexplained mismatch repair deficiency (u-dMMR) in 78 (30%) of cases, and resolution of molecular interpretation in 61 (23.5%). Surveillance related queries represented 55 (21.1%), and mainstreaming 29 (11%) of cases. Management was recommended beyond the scope of existing guidelines in 64 (24.6%) cases. This regional hereditary CRC MDM provides clinicians with support in areas of uncertainty in diagnosis and clinical management, supporting clinical decision-making where evidence and clinical guidelines may be limited. This model could be replicated to support complexity in clinical care in other geographical regions or other health conditions.","PeriodicalId":12336,"journal":{"name":"Familial Cancer","volume":"24 1","pages":"26"},"PeriodicalIF":1.8,"publicationDate":"2025-03-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11882607/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143566554","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Healthcare provider-mediated cascade testing of Lynch syndrome to at-risk family members: an interview study.

IF 1.8 4区医学

Familial Cancer Pub Date : 2025-02-26 DOI: 10.1007/s10689-025-00450-2

Serene Ong, Zi Yang Chua, Jeanette Yuen, Jianbang Chiang, Zhang Zewen, Joanne Ngeow, Tamra Lysaght

{"title":"Healthcare provider-mediated cascade testing of Lynch syndrome to at-risk family members: an interview study.","authors":"Serene Ong, Zi Yang Chua, Jeanette Yuen, Jianbang Chiang, Zhang Zewen, Joanne Ngeow, Tamra Lysaght","doi":"10.1007/s10689-025-00450-2","DOIUrl":"https://doi.org/10.1007/s10689-025-00450-2","url":null,"abstract":"Cascade testing is often recommended for cancer predisposition syndromes, like Lynch syndrome (LS), to identify at-risk family members. The uptake of cascade testing is typically meditated by the proband's willingness to disclose their results with family members. Of which, cascade testing uptake rates in Singapore has been low, compared to global rates. Studies suggest that healthcare providers (HCPs)-meditated contact of at-risk family improves uptake, yet few have explored how receptive probands and family members are to such a model. Moreover, no studies to date have examined such a model of cascade testing in Asia. To address this gap, we interviewed 17 participants (probands and relatives) in Singapore to evaluate the acceptability and feasibility of HCP-mediated cascade testing for families with LS. Our findings show broad acceptability for HCP-mediated disclosure to relatives, driven by a sense of beneficence. However, HCP involvement introduced three unique issues to disclosure process: (i) their clinical position, which conveys expertise and authority; (ii) relational complexities within family dynamics; and (iii) the notion of family-centric privacy. We propose that HCP-mediated disclosure may be best implemented through a cooperative and flexible process, tailored to each family's unique circumstances. This approach balances the efficiency of providing accurate genetic information whilst sensitively navigating familial relationships, thereby improving uptake while respecting cultural and relational nuances.","PeriodicalId":12336,"journal":{"name":"Familial Cancer","volume":"24 1","pages":"25"},"PeriodicalIF":1.8,"publicationDate":"2025-02-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143515098","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

A novel likely pathogenic germline variant in CDKN1B in a patient with MEN4 and medullary thyroid cancer.

IF 1.8 4区医学

Familial Cancer Pub Date : 2025-02-26 DOI: 10.1007/s10689-025-00449-9

Fernández Mercè, Queralt Asla, Francisco J Illana, Fusté Victòria, Hernández-Losa Javier, Sesé Marta, Carmela Iglesias, Susan M Webb, Anna Aulinas

{"title":"A novel likely pathogenic germline variant in CDKN1B in a patient with MEN4 and medullary thyroid cancer.","authors":"Fernández Mercè, Queralt Asla, Francisco J Illana, Fusté Victòria, Hernández-Losa Javier, Sesé Marta, Carmela Iglesias, Susan M Webb, Anna Aulinas","doi":"10.1007/s10689-025-00449-9","DOIUrl":"https://doi.org/10.1007/s10689-025-00449-9","url":null,"abstract":"Multiple endocrine neoplasia type 4 (MEN4) is caused by a germline CDKN1B deleterious variant. CDKN1B encodes p27Kip1, a cyclin-dependent kinase inhibitor that acts as tumor-suppressor. Clinical presentation of MEN4 is similar to multiple endocrine neoplasia type 1 (MEN1) but the diagnosis of MEN4 can only be established once a germline CDKN1B pathogenic variant has been confirmed. We describe a unique case presenting with two -rare endocrine conditions. A 59-year-old female patient was diagnosed with medullary thyroid cancer (MTC) without evidence of a germline pathogenic variant in the RET proto-oncogene. Five years later, she developed Cushing's disease. A heterozygous germline variant was identified in the CDKN1B gene, specifically c.536del (p.Prol179GlnfsTer46), corresponding to a single-nucleotide deletion at position 536. This variant induces a frameshift, leading to an alternative stop codon. Immunostaining of the pituitary and thyroid tumors revealed a weak nuclear expression of p27/Kip1 without significant differences of expression between tumor and non-tumoral tissues. The NGS panel (Oncomine Comprehensive Assay v3) performed in both MTC and pituitary tissues identified the germline CDKN1B variant, as well as a pathogenic missense somatic variant c.182 A > G, p.(Gln61Arg) in HRAS in the MTC, without any RET somatic pathogenic variant. Evaluation of loss of heterozygosity (LOH) in both MTC and pituitary tissues showed compatibility with copy-neutral LOH, although further evidence is required for definitive confirmation. In conclusion, we report a clinical case of MTC coexisting with MEN4 due to a novel CDKN1B germline heterozygote frameshift variant.","PeriodicalId":12336,"journal":{"name":"Familial Cancer","volume":"24 1","pages":"24"},"PeriodicalIF":1.8,"publicationDate":"2025-02-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143500102","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

CHEK2-related breast cancer: real-world challenges.

IF 1.8 4区医学

Familial Cancer Pub Date : 2025-02-18 DOI: 10.1007/s10689-025-00448-w

Luiza N Weis, Brittany L Bychkovsky, Adela Rodríguez Hernandez, Romualdo Barroso-Sousa, Renata L Sandoval

{"title":"CHEK2-related breast cancer: real-world challenges.","authors":"Luiza N Weis, Brittany L Bychkovsky, Adela Rodríguez Hernandez, Romualdo Barroso-Sousa, Renata L Sandoval","doi":"10.1007/s10689-025-00448-w","DOIUrl":"https://doi.org/10.1007/s10689-025-00448-w","url":null,"abstract":"Purpose: Management of cancer risks associated with the CHEK2 gene, a moderate penetrance breast cancer gene, is challenging in real-world practice. Family history, traditional breast cancer risk factors, and specific genetic CHEK2 variants are risk modifiers in this setting and add complexity for surveillance and risk-reduction decisions. Here, we present a case series of Brazilian CHEK2 carriers affected by breast cancer.Methods: Patients evaluated in the Oncogenetics Department of Hospital Sírio-Libanês (Brasília, Brazil) between November 2017 and September 2021, who had a personal history of breast cancer and a germline genetic test with a pathogenic or likely pathogenic CHEK2 variant, were selected for case description. Clinical pearls and knowledge gaps were highlighted for each case.Results: Twelve women were included in this descriptive analysis. All patients had early-stage breast cancer. Most of them were diagnosed with breast cancer prior to age 50 (9/12) and had a close relative affected by breast cancer (9/12). Seven patients harbored intronic pathogenic variants. Clinical pearls included the following: lack of risk estimates for intronic CHEK2 variants among non-European ancestry CHEK2 carriers, environmental exposures as a risk modifier, notable non-breast cancer diagnosis at young ages, incidental germline finding during tumor profiling, breast cancer diagnosis before the recommended age of breast cancer screening, family history of breast cancer as a risk modifier, and clinical outcomes after breast cancer treatment.Conclusions: Improvements in cancer risk assessment and cancer prevention for CHEK2 carriers are still needed to overcome current clinical challenges on the management of these patients.","PeriodicalId":12336,"journal":{"name":"Familial Cancer","volume":"24 1","pages":"23"},"PeriodicalIF":1.8,"publicationDate":"2025-02-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143448730","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Identification of a germline deep intronic PTEN-deletion leading to exonization through whole genome and targeted RNA sequencing.

IF 1.8 4区医学

Familial Cancer Pub Date : 2025-02-07 DOI: 10.1007/s10689-025-00445-z

Morgane Boedec, Camille Aucouturier, Mathias Cavaillé, Raphaël Leman, Laurent Castéra, Hélène Delhomelle, Nancy Uhrhammer, Virginie Bernard, Sophie Giraud, Eulalie Lasseaux, Natalie Jones, Marie Bidart, Nadia Boutry-Kryza, Catherine Noguès, Chrystelle Colas, Christine Maugard, Sophie Krieger, Ahmed Bouras

{"title":"Identification of a germline deep intronic PTEN-deletion leading to exonization through whole genome and targeted RNA sequencing.","authors":"Morgane Boedec, Camille Aucouturier, Mathias Cavaillé, Raphaël Leman, Laurent Castéra, Hélène Delhomelle, Nancy Uhrhammer, Virginie Bernard, Sophie Giraud, Eulalie Lasseaux, Natalie Jones, Marie Bidart, Nadia Boutry-Kryza, Catherine Noguès, Chrystelle Colas, Christine Maugard, Sophie Krieger, Ahmed Bouras","doi":"10.1007/s10689-025-00445-z","DOIUrl":"https://doi.org/10.1007/s10689-025-00445-z","url":null,"abstract":"PTEN Hamartoma Tumor Syndrome (PHTS) is an autosomal dominant disorder characterized by high penetrance and significant phenotypic variability. In most patients, targeted high-throughput sequencing (HTS) approaches enable the detection of loss-of-function pathogenic variants in PTEN, a tumor suppressor gene acting as a negative regulator of the PI3K-AKT pathway. We describe a patient exhibiting a clinical phenotype strongly indicative of PHTS, yet lacking a molecular diagnosis through PTEN-targeted HTS. After several years of diagnostic uncertainty, trio whole genome sequencing (WGS) ultimately identified a de novo germline deep intronic 98 bp deletion in PTEN intron 5 (c.492 + 1671_492 + 1768del). Targeted RNA sequencing revealed the inclusion of a pseudoexon, resulting in a frameshift and predicted protein truncation at codon 171 (p.Val166Asnfs*6). These data underline the importance of WGS approaches in detecting deep intronic structural variants, that may be overlooked by conventional methods.","PeriodicalId":12336,"journal":{"name":"Familial Cancer","volume":"24 1","pages":"21"},"PeriodicalIF":1.8,"publicationDate":"2025-02-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143370587","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

New RPS20 gene variant in colorectal cancer diagnosis: insight from a large series of patients.

IF 1.8 4区医学

Familial Cancer Pub Date : 2025-02-07 DOI: 10.1007/s10689-025-00446-y

Julie Amiot, Lara Gubeljak, Agathe Fontaine, Denis Smith, Isabelle Mortemousque, Nathalie Parodi, Jacques Mauillon, Edwige Kasper, Stéphanie Baert-Desurmont, Julie Tinat, Claude Houdayer

{"title":"New RPS20 gene variant in colorectal cancer diagnosis: insight from a large series of patients.","authors":"Julie Amiot, Lara Gubeljak, Agathe Fontaine, Denis Smith, Isabelle Mortemousque, Nathalie Parodi, Jacques Mauillon, Edwige Kasper, Stéphanie Baert-Desurmont, Julie Tinat, Claude Houdayer","doi":"10.1007/s10689-025-00446-y","DOIUrl":"https://doi.org/10.1007/s10689-025-00446-y","url":null,"abstract":"Germline pathogenic variants of the RPS20 (ribosomal protein S20) gene are suspected to be involved in the predisposition to familial colorectal cancer (CRC) with no DNA mismatch repair deficiency. RPS20 pathogenic variants are very rare with only five reported cases in the literature. We report in this work the retrospective germline analysis of RPS20 for 1035 consecutive patients with a personal and/or familial history suggestive of hereditary predisposition to CRC. Within this series, a pathogenic variant in known CRC genes was found in 15% of cases and we describe one RPS20 loss-of-function variant (NM_001146227.1:c.115_116del, p.(Leu39Aspfs*33)). This frameshift is the first reported de novo variant in CRC, it was identified in in a female patient diagnosed with rectal cancer at the age of 35, 11 adenomatous polyps in 5 years and breast cancer at the age of 43. RPS20 has an intriguing role in oncogenesis, acting as an oncogene or tumour suppressor depending on the context, and is also involved in Diamond-Blackfan anemia via gain of function or dominant negative variants. This is therefore a complex gene for genetic counselling and, given the rarity of RPS20 pathogenic variants, we emphasise the need to collect data to clarify the phenotypic spectrum of RPS20-associated cancers and thus improve management.","PeriodicalId":12336,"journal":{"name":"Familial Cancer","volume":"24 1","pages":"22"},"PeriodicalIF":1.8,"publicationDate":"2025-02-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143370594","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Myelodysplastic syndrome with dual germline RUNX1 and DDX41 variants: a rare genetic predisposition case.

IF 1.8 4区医学

Familial Cancer Pub Date : 2025-01-31 DOI: 10.1007/s10689-025-00443-1

Virginia Bove, Maria Noel Spangenberg, Carolina Ottati, Lucia Vázquez, Ana I Catalán, Sofía Grille

{"title":"Myelodysplastic syndrome with dual germline RUNX1 and DDX41 variants: a rare genetic predisposition case.","authors":"Virginia Bove, Maria Noel Spangenberg, Carolina Ottati, Lucia Vázquez, Ana I Catalán, Sofía Grille","doi":"10.1007/s10689-025-00443-1","DOIUrl":"https://doi.org/10.1007/s10689-025-00443-1","url":null,"abstract":"Germline variants in RUNX1 and DDX41 are well-established contributors to hereditary myeloid neoplasms and are increasingly recognized as critical predisposing factors in the developing myelodysplastic syndromes (MDS) and acute myeloid leukemia (AML). This case report details a 51-year-old male diagnosed with MDS with excess blasts-1 (MDS-EB1), who harbored a rare combination of pathogenic germline variants in RUNX1 and a novel potentially pathogenic variant in DDX41 variant, alongside a somatic DDX41 mutation. The coexistence of these germline variants highlights the genetic complexity underlying hereditary myeloid neoplasms and reinforces the necessity of comprehensive genomic testing to ensure accurate diagnosis and informed clinical management. The interplay between RUNX1 and DDX41 variants may drive leukemogenesis, with the germline RUNX1 variant potentially fostering a cellular environment that enables the acquisition of somatic DDX41 mutations, leading to hematological malignancies. Conversely, the germline DDX41 variant may disrupt hematopoiesis and, when combined with RUNX1 dysfunction, contribute to disease progression. This case underscores the importance of screening germline variants in patients with myeloid neoplasms. It emphasizes the need to confirm the origin of these variants in non-hematopoietic tissues, such as fibroblasts (gold standard), to avoid misinterpretation caused by clonal hematopoiesis. Further research is warranted to elucidate the molecular mechanisms driving the interaction between RUNX1 and DDX41 variants and their collective impact on disease progression, treatment outcomes, and familial risk.","PeriodicalId":12336,"journal":{"name":"Familial Cancer","volume":"24 1","pages":"20"},"PeriodicalIF":1.8,"publicationDate":"2025-01-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143073200","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Thirty-year compliance with a surveillance program for patients with familial adenomatous polyposis.

IF 1.8 4区医学

Familial Cancer Pub Date : 2025-01-31 DOI: 10.1007/s10689-025-00441-3

Boris Cleret de Langavant, Jéremie H Lefèvre, Julie Metras, Antoine Dardenne, Lauren V O'Connell, Maxime Collard, Yann Parc

{"title":"Thirty-year compliance with a surveillance program for patients with familial adenomatous polyposis.","authors":"Boris Cleret de Langavant, Jéremie H Lefèvre, Julie Metras, Antoine Dardenne, Lauren V O'Connell, Maxime Collard, Yann Parc","doi":"10.1007/s10689-025-00441-3","DOIUrl":"https://doi.org/10.1007/s10689-025-00441-3","url":null,"abstract":"Familial adenomatous polyposis is an inherited genetic disorder responsible for multiple anomalies. Lifelong surveillance protocols are essential to detect and prevent adverse developments. However, limited data exist regarding the long-term feasibility of such programs. This study aims to evaluate the compliance with a surveillance program for patients with familial adenomatous polyposis. The study collated data from all patients who underwent surgery between January 1981 and December 1993, excluding non-French residents. Recorded characteristics included medical history, follow-up results, the indications for operations or other procedures, outcomes of these interventions, and patient status at the end of the follow-up period. One hundred and sixty-four patients were enrolled, comprising 86 females (52.4%). The median age at the time of colorectal resection was 29.6 years [10-67]. Thirty-six (22.0%) were diagnosed with cancer at the time of their surgery. Fifty-eight patients (35.3%) passed away at a median age of 52 years [18-95]. During the follow-up period, 47 patients developed duodenal or reservoir adenomas requiring invasive procedures, or desmoid tumors necessitating treatment. After a possible 30 years of follow-up, 49 survivors (46.2%) are still under observation, while 57 (53.8%) have been lost to follow-up. After 30 years of follow-up, the survival rate was 74.2% for patients who remained under observation, but only 58.2% for those lost to follow-up. Long-term follow-up of patients with familial adenomatous polyposis is associated with a high rate of loss to follow-up. However, those who remain under observation maintain an excellent prognosis. Understanding the reasons for loss to follow-up is challenging but may help in reducing this high attrition rate.","PeriodicalId":12336,"journal":{"name":"Familial Cancer","volume":"24 1","pages":"19"},"PeriodicalIF":1.8,"publicationDate":"2025-01-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143073715","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Case review of perivascular epithelioid cell tumor occurring in patients with Li-Fraumeni syndrome.

IF 1.8 4区医学

Familial Cancer Pub Date : 2025-01-24 DOI: 10.1007/s10689-025-00442-2

Natsuno Abe, Fumito Yamazaki, Hanako Tsujikawa, Ryosuke Kasuga, Nobuhito Taniki, Hiroyuki Shimada

{"title":"Case review of perivascular epithelioid cell tumor occurring in patients with Li-Fraumeni syndrome.","authors":"Natsuno Abe, Fumito Yamazaki, Hanako Tsujikawa, Ryosuke Kasuga, Nobuhito Taniki, Hiroyuki Shimada","doi":"10.1007/s10689-025-00442-2","DOIUrl":"https://doi.org/10.1007/s10689-025-00442-2","url":null,"abstract":"Perivascular epithelioid cell tumors (PEComas) belong to a family of rare mesenchymal tumors composed of histologically and immunohistochemically distinctive perivascular epithelioid cells. Li-Fraumeni syndrome (LFS), an autosomal dominant cancer predisposition syndrome, is caused by a germline variant of the tumor suppressor gene TP53. Here, we report the case of a 20-year-old woman with LFS who developed a PEComa of the liver. She was suspected to have LFS because she had developed osteosarcoma (OS) of the femur along with a concurrent transitional liver cell tumor in the right liver lobe at the age of 8 years. She also tested positive for the germline TP53 missense variant c.722 C > T (p.Ser241Phe). She concurrently experienced recurrence of OS and a new-onset liver tumor at the age of 20 years. Thereafter, microwave ablation was performed for the liver tumor because the Magnetic resonance imaging features suggested that the tumor was a hepatocellular carcinoma. Post-ablation biopsy showed that the tumor cells were spindle-shaped and possessed eosinophilic cytoplasm. Immunohistochemistry revealed that the tumor cells expressed HMB45 and focal alpha-smooth muscle actin. Labeling for S100 protein and cytokeratin-AE1/AE3 yielded negative results. Therefore, a diagnosis of PEComa of the liver was made. Among the ten PEComas reported in patients with Li-Fraumeni syndrome so far, all PEComas except the current case were surgically resected, and no cases of recurrence were documented in the follow-up period. Six of the ten PEComas were located in the liver. We think that the possibility of PEComa should be considered when a liver tumor develops in patients with LFS.","PeriodicalId":12336,"journal":{"name":"Familial Cancer","volume":"24 1","pages":"18"},"PeriodicalIF":1.8,"publicationDate":"2025-01-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143037786","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0