Genes, Chromosomes & Cancer最新文献

{"title":"Genomic profile analysis of leiomyomas with bizarre nuclei and fumarate hydratase deficient leiomyomas: Strengths, weaknesses, and limitations of array-CGH interpretation","authors":"Quitterie Fontanges,&nbsp;Paul Dubos,&nbsp;Tom Lesluyes,&nbsp;Yec'han Laizet,&nbsp;Valérie Velasco,&nbsp;Bárbara Meléndez,&nbsp;Nicky D'Haene,&nbsp;Esther Oliva,&nbsp;Robert H. Young,&nbsp;Laetitia Mayeur,&nbsp;Flora Rebier,&nbsp;Mélissa Alamé,&nbsp;Claire Larmonier,&nbsp;Mojgan Devouassoux-Shisheboran,&nbsp;Laurent Arnould,&nbsp;Isabelle Soubeyran,&nbsp;Camille Chakiba,&nbsp;Anne Floquet,&nbsp;Guillaume Babin,&nbsp;Frédéric Guyon,&nbsp;Eliane Mery,&nbsp;Sophie Le Guellec,&nbsp;Jean-Christophe Noël,&nbsp;Sabrina Croce,&nbsp;Frédéric Chibon","doi":"10.1002/gcc.23229","DOIUrl":"10.1002/gcc.23229","url":null,"abstract":"<p>A close relationship has been demonstrated between genomic complexity and clinical outcome in uterine smooth muscle tumors. We studied the genomic profiles by array-CGH of 28 fumarate hydratase deficient leiomyomas and 37 leiomyomas with bizarre nuclei (LMBN) from 64 patients. Follow-up was available for 46 patients (from three to 249 months, mean 87.3 months). All patients were alive without evidence of disease. For 51 array-CGH interpretable tumors the mean Genomic Index (GI) was 16.4 (median: 9.8; from 1 to 57.8), significantly lower than the mean GI in LMS (mean GI 51.8, <i>p</i> &lt; 0.001). We described three groups: (1) a group with <i>FH</i> deletion (24/58) with low GI (mean GI: 11 vs. 22,4, <i>p</i> = 0.02), (2) a group with <i>TP53</i> deletion (17/58) with higher GI (22.4 vs. 11 <i>p</i> = 0.02), and (3) a group without genomic events on <i>FH</i> or <i>TP53</i> genes (17/58) (mean GI:18.3; from 1 to 57.8). Because none of these tumors recurred and none showed morphological features of LMS we concluded that GI at the cut-off of 10 was not applicable in these subtypes of LM. By integration of all those findings, a GI &lt;10 in LMBN remains a valuable argument for benignity. Conversely, in LMBN a GI &gt;10 or alteration in tumor suppressor genes, should not alone warrant a diagnosis of malignancy. Nine tumors were tested with Nanocind CINSARC<b>®</b> signature and all were classified in low risk of recurrence. We propose, based on our observations, a diagnostic approach of these challenging lesions.</p>","PeriodicalId":12700,"journal":{"name":"Genes, Chromosomes & Cancer","volume":"63 3","pages":""},"PeriodicalIF":3.7,"publicationDate":"2024-03-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140119295","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Novel MED15::ATF1 fusion in a pediatric melanoma with spitzoid features and aggressive presentation","authors":"Larissa V. Furtado,&nbsp;Maria Cardenas,&nbsp;Teresa Santiago,&nbsp;Robert E. Ruiz,&nbsp;Zonggao Shi,&nbsp;Alberto Pappo,&nbsp;Marija Kacar","doi":"10.1002/gcc.23230","DOIUrl":"10.1002/gcc.23230","url":null,"abstract":"<p>Childhood melanoma is a rare and biologically heterogeneous pediatric malignancy. The differential diagnosis of pediatric melanoma is usually broad, including a wide variety of spindle cell or epithelioid neoplasms. Different molecular alterations affecting the MAPK and PI3K/AKT/mTOR pathways, tumor suppressor genes, and telomerase reactivation have been implicated in melanoma tumorigenesis and progression. Here, we report a novel <i>MED15::ATF1</i> fusion in a pediatric melanoma with spitzoid features and an aggressive clinical course.</p>","PeriodicalId":12700,"journal":{"name":"Genes, Chromosomes & Cancer","volume":"63 3","pages":""},"PeriodicalIF":3.7,"publicationDate":"2024-03-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140068333","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Clonal origin and genomic diversity in Lynch syndrome-associated endometrial cancer with multiple synchronous tumors: Identification of the pathogenicity of MLH1 p.L582H","authors":"Kotaro Takahashi,&nbsp;Nozomi Yachida,&nbsp;Ryo Tamura,&nbsp;Sosuke Adachi,&nbsp;Shuhei Kondo,&nbsp;Tatsuya Abé,&nbsp;Hajime Umezu,&nbsp;Hiromi Nyuzuki,&nbsp;Shujiro Okuda,&nbsp;Hirofumi Nakaoka,&nbsp;Kosuke Yoshihara","doi":"10.1002/gcc.23231","DOIUrl":"10.1002/gcc.23231","url":null,"abstract":"<p>Lynch syndrome-associated endometrial cancer patients often present multiple synchronous tumors and this assessment can affect treatment strategies. We present a case of a 27-year-old woman with tumors in the uterine corpus, cervix, and ovaries who was diagnosed with endometrial cancer and exhibited cervical invasion and ovarian metastasis. Her family history suggested Lynch syndrome, and genetic testing identified a variant of uncertain significance, <i>MLH1</i> p.L582H. We conducted immunohistochemical staining, microsatellite instability analysis, and Sanger sequencing for Lynch syndrome-associated cancers in three generations of the family and identified consistent <i>MLH1</i> loss. Whole-exome sequencing for the corpus, cervical, and ovarian tumors of the proband identified a copy-neutral loss of heterozygosity (LOH) occurring at the <i>MLH1</i> position in all tumors. This indicated that the germline variant and the copy-neutral LOH led to biallelic loss of <i>MLH1</i> and was the cause of cancer initiation. All tumors shared a portion of somatic mutations with high mutant allele frequencies, suggesting a common clonal origin. There were no mutations shared only between the cervix and ovary samples. The profiles of mutant allele frequencies shared between the corpus and cervix or ovary indicated that two different subclones originating from the corpus independently metastasized to the cervix or ovary. Additionally, all tumors presented unique mutations in endometrial cancer-associated genes such as <i>ARID1A</i> and <i>PIK3CA</i>. In conclusion, we demonstrated clonal origin and genomic diversity in a Lynch syndrome-associated endometrial cancer, suggesting the importance of evaluating multiple sites in Lynch syndrome patients with synchronous tumors.</p>","PeriodicalId":12700,"journal":{"name":"Genes, Chromosomes & Cancer","volume":"63 3","pages":""},"PeriodicalIF":3.7,"publicationDate":"2024-03-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/gcc.23231","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140068332","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Epithelioid hemangioendothelioma (EHE) with WWTR1::TFE3 gene fusion, a novel fusion variant","authors":"Shuo Li,&nbsp;Josephine K. Dermawan,&nbsp;Caleb N. Seavey,&nbsp;Shuang Ma,&nbsp;Cristina R. Antonescu,&nbsp;Brian P. Rubin","doi":"10.1002/gcc.23226","DOIUrl":"10.1002/gcc.23226","url":null,"abstract":"<p>Epithelioid hemangioendothelioma (EHE) is a rare endothelial sarcoma associated with a high incidence of metastases and for which there are no standard treatment options. Based on disease-defining mutations, most EHEs are classified into two subtypes: <i>WWTR1::CAMTA1</i>-fused EHE or <i>YAP1::TFE3-</i>fused EHE. However, rare non-canonical fusions have been identified in clinical samples of EHE cases and are challenging to classify. In this study, we report the identification of a novel <i>WWTR1::TFE3</i> fusion variant in an EHE patient using targeted RNA sequencing. Histologically, the tumor exhibited hybrid morphological characteristics between <i>WWTR1::CAMTA1</i>-fused EHE and <i>YAP1::TFE3-</i>fused EHE. In addition to the driver fusion, there were six additional secondary mutations identified, including a loss-of-function <i>FANCA</i> mutation. Furthermore, in vitro studies were conducted to investigate the tumorigenic function of the WWTR1::TFE3 fusion protein in NIH3T3 cells and demonstrated that WWTR1::TFE3 promotes colony formation in soft agar. Finally, as the wild-type WWTR1 protein relies on binding the TEAD family of transcription factors to affect gene transcription, mutation of the WWTR1 domain of the fusion protein to inhibit such binding abrogates the transformative effect of WWTR1::TFE3. Overall, we describe a novel gene fusion in EHE with a hybrid histological appearance between the two major genetic subtypes of EHE. Further cases of this very rare subtype of EHE will need to be identified to fully elucidate the clinical and pathological characteristics of this unusual subtype of EHE.</p>","PeriodicalId":12700,"journal":{"name":"Genes, Chromosomes & Cancer","volume":"63 2","pages":""},"PeriodicalIF":3.7,"publicationDate":"2024-02-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/gcc.23226","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139912416","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"CD30 expression in an emerging group of mesenchymal spindle cell neoplasms with ALK fusion detected by flow cytometry and immunohistochemistry","authors":"Akari Iwakoshi,&nbsp;Hajime Kikui,&nbsp;Ryosuke Nakashima,&nbsp;Yuya Goto,&nbsp;Daisuke Ichikawa,&nbsp;Eiichi Sasaki,&nbsp;Masahiro Sekimizu,&nbsp;Hiroyoshi Hattori,&nbsp;Naoko Maeda","doi":"10.1002/gcc.23228","DOIUrl":"10.1002/gcc.23228","url":null,"abstract":"<p>An emerging group of spindle cell neoplasms harboring fusions involving <i>NTRK</i> or non-<i>NTRK</i> kinase genes often share characteristic S100 and/or CD34 expression; however, the diagnostic utility of immunohistochemical stains is not well established in this family owing to their lack of specificity. Recently, CD30 expression in spindle cell neoplasms with kinase gene fusions, such as <i>NTRK</i>, <i>BRAF</i>, <i>RAF1</i>, and <i>RET</i>, has been increasingly identified. We herein report a 10-year-old girl with high-grade spindle cell sarcoma of the neck. Prior to histopathological evaluation, flow cytometry (FCM) analysis and touch smear cytology of the tumor tissue revealed CD34+ and dimCD30+ spindle cell populations. Histopathologically, the case was characterized by monomorphic spindle-shaped cytomorphology with CD30, S100, and CD34 positivity and harbored close similarities with spindle cell neoplasms with <i>NTRK</i> or non-<i>NTRK</i> gene fusions. Subsequently, a comprehensive next-generation sequencing sarcoma panel identified a rare <i>PLEKHH2::ALK</i> fusion, and a diagnosis of <i>ALK</i>-rearranged spindle cell neoplasm was made. The patient showed significant tumor response to single-agent treatment with alectinib, an ALK-tyrosine kinase inhibitor. This case supports that CD30 is expressed in an <i>ALK</i>-rearranged mesenchymal neoplasm. The benefit of the early detection of CD30 expression by FCM for a prompt diagnosis and treatment is highlighted in the context of an aggressive clinical course. This case represents a learning experience regarding the need to the check the status of CD30 expression in these tumors and suggests the potential clinical benefits of CD30-targeted therapy.</p>","PeriodicalId":12700,"journal":{"name":"Genes, Chromosomes & Cancer","volume":"63 2","pages":""},"PeriodicalIF":3.7,"publicationDate":"2024-02-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139912415","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Pediatric NCOA3-rearranged low-grade fibroblastic tumor with nuclear beta-catenin immunoreactivity","authors":"Faizan Malik,&nbsp;Larissa V. Furtado,&nbsp;Mohammad K. Eldomery,&nbsp;Zonggao Shi,&nbsp;Selene C. Koo","doi":"10.1002/gcc.23223","DOIUrl":"10.1002/gcc.23223","url":null,"abstract":"","PeriodicalId":12700,"journal":{"name":"Genes, Chromosomes & Cancer","volume":"63 2","pages":""},"PeriodicalIF":3.7,"publicationDate":"2024-02-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139716021","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Near complete remission of an inoperable pancreatic acinar cell carcinoma after BRAF-/MEK-inhibitor treatment—A case report and review of the literature","authors":"Lennart von Fritsch,&nbsp;Nikolas von Bubnoff,&nbsp;Klaus Weber,&nbsp;Jutta Kirfel,&nbsp;Cleopatra Schreiber,&nbsp;Tobias Keck,&nbsp;Ulrich Wellner","doi":"10.1002/gcc.23222","DOIUrl":"10.1002/gcc.23222","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Introduction</h3>\u0000 \u0000 <p>Pancreatic acinar cell carcinomas are rare malignant neoplasms. High-quality evidence about the best treatment strategy is lacking. We present the case of a 52-year-old male with a <i>BRAF</i>^<i>V600E</i>-mutated PACC who experienced a complete remission after chemotherapy with BRAF-/MEK-inhibitors.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Case</h3>\u0000 \u0000 <p>The patient presented with upper abdomen pain, night sweat, and weight loss. CT scan showed a pancreatic tumor extending from the pancreas head to body. Histological workup identified an acinar cell carcinoma. As the tumor was inoperable, chemotherapy with FOFIRNIOX was initiated and initially showed a slight regression of disease. The regimen had to be discontinued due to severe side effects. Molecular analysis identified a <i>BRAF</i>^<i>V600E</i> mutation, so the patient was started on BRAF- and MEK-inhibitors (dabrafenib/trametinib). After 16 months, CT scans showed a near complete remission with a markedly improved overall health.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Discussion</h3>\u0000 \u0000 <p>Studies suggest that up to one-fourth of PACCs carry a <i>BRAF</i> mutation and might therefore be susceptible to a BRAF-/MEK-inhibitor therapy. This offers a new therapeutic pathway to treat this rare but malignant neoplasm.</p>\u0000 </section>\u0000 </div>","PeriodicalId":12700,"journal":{"name":"Genes, Chromosomes & Cancer","volume":"63 2","pages":""},"PeriodicalIF":3.7,"publicationDate":"2024-02-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/gcc.23222","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139716020","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Segregation, immunohistochemical, molecular and functional analyses classify a novel missense variant in fumarate hydratase (FH) as pathogenic","authors":"Lydia Ouchene,&nbsp;Blake Wilde,&nbsp;Fiona Chan-Pak-Choon,&nbsp;Jose Camacho Valenzuela,&nbsp;Fadi Brimo,&nbsp;Leora Witkowski,&nbsp;Heather Christofk,&nbsp;Celine Domecq,&nbsp;Lili Fu,&nbsp;Evan Weber,&nbsp;Brianna Lemieux Anglin,&nbsp;Elena Netchiporouk,&nbsp;William D. Foulkes","doi":"10.1002/gcc.23221","DOIUrl":"https://doi.org/10.1002/gcc.23221","url":null,"abstract":"<p>Hereditary leiomyomatosis and renal cell cancer (HLRCC) is an autosomal dominant cancer predisposition syndrome characterized by cutaneous leiomyomas, uterine leiomyomas, and aggressive renal cancer. Germline variants in the fumarate hydratase (<i>FH</i>) gene predispose to HLRCC. Identifying germline pathogenic <i>FH</i> variants enables lifetime renal cancer screening and genetic testing for family members. In this report, we present a <i>FH</i> missense variant (c.1039T&gt;C (p.S347P)), initially classified as a variant of uncertain significance. Clinical assessment, histopathological findings, molecular genetic studies, and enzymatic activity studies support the re-classification of the <i>FH</i> c.1039T&gt;C variant to “pathogenic” based on ACMG/AMP criteria. Further insights into pathological recognition of FH-deficient renal cancer are discussed and should be recognized. This study has shown how (a) detailed multi-disciplinary analyses of a single variant can reclassify rare missense variants in <i>FH</i> and (b) careful pathological review of renal cancers is obligatory when HLRCC is suspected.</p>","PeriodicalId":12700,"journal":{"name":"Genes, Chromosomes & Cancer","volume":"63 2","pages":""},"PeriodicalIF":3.7,"publicationDate":"2024-02-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/gcc.23221","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139704684","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Deciphering epigenetic regulation of enhancers in high-risk prostate cancer","authors":"A. V. Tuzova,&nbsp;B. Moran,&nbsp;N. M. Russell,&nbsp;S. Das,&nbsp;F. Delahaye,&nbsp;R. Silva,&nbsp;C. Barrett,&nbsp;R. W. G. Watson,&nbsp;A. O'Neill,&nbsp;W. M. Gallagher,&nbsp;J. Greally,&nbsp;A. S. Perry","doi":"10.1002/gcc.23218","DOIUrl":"https://doi.org/10.1002/gcc.23218","url":null,"abstract":"<p>Prostate cancer (PCa) is associated with widespread promoter hypermethylation. We hypothesized that aberrant DNA methylation also targets gene enhancers, modulating their activity and contributing to disease etiology. A patient discovery set (<i>n</i> = 37) was used for differential methylation analysis and biomarker identification using the Infinium methylation EPIC array, on high-risk (<i>n</i> = 13), low-risk (<i>n</i> = 11), and histologically benign (<i>n</i> = 13) tissues. Enhancers were primarily hypermethylated. However proportionally, hypomethylated enhancers were more prominent in high-risk (<i>n</i> = 385, 15%) than low-risk (<i>n</i> = 105, 10%) disease, primarily targeting genes involved in development and enriched for oncoprotein binding motifs, including FOXA1. The clinical significance of enhancer methylation was evaluated by identifying a 17 enhancer differentially methylated probe (DMP) signature using a Least Absolute Shrinkage and Selection Operator model in the discovery set. A large external dataset (<i>n</i> = 746) obtained from four publicly available prostate tissue methylation array studies was used to assess the enhancer signature through logistic regression models trained on a 2/3 training set and tested in a 1/3 test set. This delivered an area under the curve of 0.81 (95% bootstrapped CI 0.78–0.9) for selective detection of high-risk PCa, achieving a 0.71 sensitivity and 0.76 specificity. Array-wide aberrant DNA methylation at enhancers highlighted their epigenetic perturbance in high-risk disease. A clinically significant enhancer signature from this study could be used for detecting high-risk PCa.</p>","PeriodicalId":12700,"journal":{"name":"Genes, Chromosomes & Cancer","volume":"63 2","pages":""},"PeriodicalIF":3.7,"publicationDate":"2024-02-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/gcc.23218","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139704700","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Single-nucleotide polymorphism array and fluorescence in situ hybridization analysis to decode the cytogenetic profile of atypical partial hydatidiform moles diagnosed by short tandem repeat polymorphism analysis","authors":"Yoshiya Suzuki,&nbsp;Hirokazu Usui,&nbsp;Eri Katayama,&nbsp;Asuka Sato,&nbsp;Natsuko Nakamura,&nbsp;Emiri Nakada,&nbsp;Akiko Omoto,&nbsp;Jun Okayama,&nbsp;Mika Sato,&nbsp;Akiko Nagasawa,&nbsp;Akiko Hirosawa,&nbsp;Makio Shozu,&nbsp;Kaori Koga","doi":"10.1002/gcc.23220","DOIUrl":"https://doi.org/10.1002/gcc.23220","url":null,"abstract":"<p>Accurate diagnosis of partial hydatidiform moles (PHMs) is crucial for improving outcomes of gestational trophoblastic neoplasia. The use of short tandem repeat (STR) polymorphism analysis to distinguish between PHM and hydropic abortuses is instrumental; however, its diagnostic power has not been comprehensively assessed. Herein, we evaluated the diagnostic efficacy of STR in differentiating between PHM and hydropic abortus, thus providing an opportunity for early measurement of human chorionic gonadotropin for PHMs. We reviewed charts of STR polymorphism analysis performed on fresh villous specimens and patient blood samples using a commercial kit for 16 loci. The genetic classification of 79 PHMs was confirmed. STR was reliable in differentiating PHMs when at least 15 loci were available. Typically, PHMs are characterized by their triploidy, including two paternal and one maternal haploid contribution. In our sample, seven PHMs lacked the three-allelic loci, requiring fluorescence in situ hybridization (FISH) analysis to investigate imbalanced biparental conceptus and single-nucleotide polymorphism array analysis to reveal cytogenetic details. Of these PHMs, two, three, and one were identified as androgenetic/biparental mosaics (diploids), monospermic diandric monogynic triploids, and a typical dispermic diandric monogynic triploid, respectively. The remaining case was monospermic origin, but its ploidy details could not be available. Therefore, STR differentiated PHM from a biparental diploid abortus in most cases. However, PHM diagnosis may be compromised when STR is used as the sole method for cases displaying distinct cytogenetic patterns lacking the three-allelic loci, including androgenetic/biparental mosaicism. Therefore, FISH should be considered to confirm the diagnosis.</p>","PeriodicalId":12700,"journal":{"name":"Genes, Chromosomes & Cancer","volume":"63 2","pages":""},"PeriodicalIF":3.7,"publicationDate":"2024-02-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139704683","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}