Clinical Application of Chromosome Microarray Analysis in the Diagnosis of Lipomatous Tumors

Pei, Jianming; Flieder, Douglas B.; Talarchek, Jacqueline; Cooper, Harry S.; Patchefsky, Arthur S.; Wei, Shuanzeng

doi:10.1097/pai.0000000000000923

Cited by 3 publications

(3 citation statements)

References 41 publications

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“…Interestingly, we did not find any chromosome imbalances in any of our 7 cases by CMA, a single-nucleotide polymorphism-based microarray technology that identifies DNA copy number imbalances (chromosome gains and losses), but cannot detect balanced genomic alterations (reciprocal translocations, inversions, balanced insertions) or point mutations. [23][24][25] However, our study also included analyses with the TruSight RNA Pan-Cancer panel, which did not reveal any fusion genes. Overall, 30/44 (68%) cases had no chromosome abnormalities, whereas 12/44 (27%) cases had gain(s) of chromosome 7 and/or 17, and 2/44 (4.5%) had showed only loss of the Y chromosome.…”

Section: Discussionmentioning

confidence: 99%

Papillary Renal Neoplasm With Reverse Polarity Is Often Cystic

Wei¹,

Kutikov

Patchefsky³

et al. 2021

American Journal of Surgical Pathology

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Papillary renal neoplasm with reverse polarity (PRNRP) is a newly proposed entity with distinct histology and frequent KRAS mutations. To date, 93 cases of PRNRPs have been reported. In this study, we present 7 new cases of PRNRP and review the literature. Most of the pathologic features in our 7 cases are similar to those previously reported cases. However, all 7 of our cases showed at least partial cystic changes, which was not stressed in prior studies. Single-nucleotide polymorphism-microarray based chromosomal analysis demonstrated no trisomy or other alteration of chromosomes 7 or 17; and no loss or other alteration of chromosome Y was detected in all 7 cases. Next-generation sequencing detected KRAS missense mutations in 4 of 7 cases. No fusion genes were detected. In summary, PRNRP is a small, well-circumscribed often encapsulated and cystic neoplasm with loose papillary formations. Cuboidal tumor cells always have eosinophilic cytoplasm and nuclei located at the pole opposite the basement membrane with a low World Health Organization (WHO)/International Society of Urologic Pathologists (ISUP) nuclear grade. The fibrovascular cores can be hyalinized or edematous. Macrophage aggregates and intracellular hemosiderin are uncommon, and no psammoma bodies or necrosis should be seen. Immunophenotypically, this tumor is always positive for CK7 and GATA3, and negative for CD117 and vimentin. CD10 and AMACR can be positive, but often weakly and focally. PRNRP often has KRAS mutations, however, only 32% of cases have chromosomal abnormalities in chromosomes 7, 17, and Y. No recurrences, metastases, or tumor-related deaths have been reported following complete resection.

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Section: Discussionmentioning

confidence: 99%

Papillary Renal Neoplasm With Reverse Polarity Is Often Cystic

Wei¹,

Kutikov

Patchefsky³

et al. 2021

American Journal of Surgical Pathology

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“…As mentioned above, in liposarcomas, MDM2 and YEATS4 amplifications appear to be particularly important and can form characteristic giant ring or giant rod marker chromosomes ( Persson et al, 2008 ; Pei et al, 2021 ), suggesting that YEATS4 can be used as a diagnostic and therapeutic target for liposarcoma (Mashima, Sawada, Nakamura).…”

Section: Yeats4 and Human Cancermentioning

confidence: 99%

Mechanistic insights into genomic structure and functions of a novel oncogene YEATS4

Xian

Song

Gui

et al. 2023

Front. Cell Dev. Biol.

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As a novel oncogene, the role of YEATS domain-containing protein 4 (YEATS4) in the occurrence, development, and treatment of tumors is now beginning to be appreciated. YEATS4 plays an important role in regulating DNA repair during replication. The upregulation of YEAST4 promotes DNA damage repair and prevents cell death, whereas its downregulation inhibits DNA replication and induces apoptosis. Additionally, accumulating evidence indicates that the aberrant activation of YEATS4 leads to changes in drug resistance, epithelial-mesenchymal transition and also in the migration and invasion capacity of tumor cells. Therefore, specific inhibition of the expression or activity of YEATS4 protein may be an effective strategy for inhibiting the proliferation, motility, differentiation, and/or survival of tumor cells. Taken together, YEATS4 has emerged as a potential target for multiple cancers and is an attractive protein for the development of small-molecule inhibitors. However, research on YEAST4 in tumor-related fields is limited and its biological functions, metabolism, and the regulatory mechanism of YEATS4 in numerous cancers remain undetermined. This review comprehensively and extensively summarizes the functions, structure and oncogenic roles of YEATS4 in cancer progression and aims to further contribute to the study of its underlying molecular mechanism and targeted drugs.

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“…Considering the clinical consequences of misdiagnosing these lesions, the molecular analysis of MDM2 is essential, and it is usually performed with Fluorescence In Situ Hybridization (FISH) [ 30 ]. Indeed, the MDM2 amplification evaluation by FISH is a crucial and well-established assay for liposarcoma diagnostic work-up and, nowadays, is considered as a diagnostic gold standard [ 31 , 32 , 33 ]. However, despite its diagnostic relevance, no definitive consensus has ever been defined for determining the MDM2 gene status.…”

Section: Introductionmentioning

confidence: 99%

FISH Diagnostic Assessment of MDM2 Amplification in Liposarcoma: Potential Pitfalls and Troubleshooting Recommendations

Gambella

Bertero

Rondón-Lagos

et al. 2023

IJMS

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MDM2 amplification represents the leading oncogenic pathway and diagnostic hallmark of liposarcoma, whose assessment is based on Fluorescence In Situ Hybridization (FISH) analysis. Despite its diagnostic relevance, no univocal interpretation criteria regarding FISH assessments of MDM2 amplification have been established so far, leading to several different approaches and potential diagnostic misinterpretations. This study aims to address the most common issues and proposes troubleshooting guidelines for MDM2 amplification assessments by FISH. We retrospectively retrieved 51 liposarcomas, 25 Lipomas, 5 Spindle Cell Lipoma/Pleomorphic Lipomas, and 2 Atypical Spindle Cell Lipomatous Tumors and the corresponding MDM2 FISH analysis. We observed MDM2 amplification in liposarcomas cases only (43 out of 51 cases) and identified three MDM2-amplified patterns (scattered (50% of cases), clustered (14% of cases), and mixed (36% of cases)) and two nonamplified patterns (low number of signals (82% of cases) and polysomic (18% of cases)). Based on these data and published evidence in the literature, we propose a set of criteria to guide MDM2 amplification analysis in liposarcoma. Kindled by the compelling importance of MDM2 assessments to improve diagnostic and therapeutic liposarcoma management, these suggestions could represent the first step to develop a univocal interpretation model and consensus guidelines.

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Clinical Application of Chromosome Microarray Analysis in the Diagnosis of Lipomatous Tumors

Cited by 3 publications

References 41 publications

Papillary Renal Neoplasm With Reverse Polarity Is Often Cystic

Papillary Renal Neoplasm With Reverse Polarity Is Often Cystic

Mechanistic insights into genomic structure and functions of a novel oncogene YEATS4

FISH Diagnostic Assessment of MDM2 Amplification in Liposarcoma: Potential Pitfalls and Troubleshooting Recommendations

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