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Article ; Online: Primary cutaneous SMARCA4-deficient undifferentiated malignant neoplasm: first two cases with clinicopathologic and molecular comparison to eight visceral counterparts.

Russell-Goldman, Eleanor / MacConaill, Laura / Hanna, John

Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc

2022 Volume 35, Issue 12, Page(s) 1821–1828

Abstract: SMARCA4-deficient undifferentiated malignant neoplasms (SD-UMN) comprise a group of aggressive tumors with epithelioid morphology that are characterized by loss of function of SMARCA4, a component of the SWI/SNF chromatin remodeling complex. SD-UMN was ... ...

Abstract	SMARCA4-deficient undifferentiated malignant neoplasms (SD-UMN) comprise a group of aggressive tumors with epithelioid morphology that are characterized by loss of function of SMARCA4, a component of the SWI/SNF chromatin remodeling complex. SD-UMN was first recognized in the thoracic cavity but is now appreciated to occur at multiple anatomic sites. A notable exception has been skin. Here we report the first two cases of primary cutaneous SD-UMN and compare their features to a cohort of eight visceral cases arising in lung, gastrointestinal tract, and gallbladder. Evidence for a bona fide cutaneous origin included extensive clinical, radiologic, and serologic analyses that failed to identify a metastatic source as well as the molecular identification of a UV-associated mutational pattern. The cutaneous cases showed strikingly similar morphologic, immunohistochemical, and molecular features to the visceral cases, strongly suggesting that they belong to this family of tumors. In addition to biallelic inactivation of SMARCA4, both cutaneous tumors also showed biallelic inactivation of TP53 and CDKN2A, findings which also appear common in visceral cases. One patient died of disease at 18 months after diagnosis, consistent with the aggressive nature of this tumor. Our results expand the anatomic spectrum of SD-UMN, adding this entity to an already challenging differential diagnosis that includes melanoma, squamous cell carcinoma, Merkel cell carcinoma, epithelioid sarcoma, and others. Given the potentially aggressive nature of SD-UMN, the timely and accurate diagnosis of this entity may have implications for prognosis and therapy.
MeSH term(s)	Humans ; Immunohistochemistry ; Biomarkers, Tumor/genetics ; Sarcoma/pathology ; Prognosis ; Carcinoma, Squamous Cell ; Neuroblastoma ; DNA Helicases/genetics ; Nuclear Proteins/genetics ; Transcription Factors/genetics
Chemical Substances	Biomarkers, Tumor ; SMARCA4 protein, human (EC 3.6.1.-) ; DNA Helicases (EC 3.6.4.-) ; Nuclear Proteins ; Transcription Factors
Language	English
Publishing date	2022-09-09
Publishing country	United States
Document type	Case Reports ; Journal Article ; Research Support, Non-U.S. Gov't
ZDB-ID	645073-8
ISSN	1530-0285 ; 0893-3952
ISSN (online)	1530-0285
ISSN	0893-3952
DOI	10.1038/s41379-022-01152-1
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Zs.A 2450: Show issues

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Article ; Online: Author Correction: An oncogene-tumor suppressor cascade drives metastatic prostate cancer by coordinately activating Ras and nuclear factor-κB.

Min, Junxia / Zaslavsky, Alexander / Fedele, Giuseppe / McLaughlin, Sara K / Reczek, Elizabeth E / De Raedt, Thomas / Guney, Isil / Strochlic, David E / MacConaill, Laura E / Beroukhim, Rameen / Bronson, Roderick T / Ryeom, Sandra / Hahn, William C / Loda, Massimo / Cichowski, Karen

Nature medicine

2024

Language	English
Publishing date	2024-02-21
Publishing country	United States
Document type	Published Erratum
ZDB-ID	1220066-9
ISSN	1546-170X ; 1078-8956
ISSN (online)	1546-170X
ISSN	1078-8956
DOI	10.1038/s41591-024-02866-2
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Zs.A 4212: Show issues			Location: Je nach Verfügbarkeit (siehe Angabe bei Bestand) bis Jg. 1994: Bestellungen von Artikeln über das Online-Bestellformular Jg. 1995 - 2021: Lesesall (2.OG) ab Jg. 2022: Lesesaal (EG)
Zs.MG 39: Show issues

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Article ; Online: Deep-penetrating-nevus-like melanoma arising in patients with familial adenomatous polyposis syndrome.

Russell-Goldman, Eleanor / MacConaill, Laura / Laga, Alvaro C / Hanna, John

Journal of cutaneous pathology

2023 Volume 50, Issue 9, Page(s) 801–805

Abstract: Deep penetrating nevi (DPN) are uncommon but distinctive melanocytic neoplasms that show an epithelioid to spindle cell morphology, prominent pigmentation with melanophages, and a plexiform growth pattern. Molecularly, most DPN are thought to be ... ...

Abstract	Deep penetrating nevi (DPN) are uncommon but distinctive melanocytic neoplasms that show an epithelioid to spindle cell morphology, prominent pigmentation with melanophages, and a plexiform growth pattern. Molecularly, most DPN are thought to be characterized by dual activation of the mitogen-activated protein kinase and the wingless-related integration site (Wnt) pathways, the latter being most commonly driven by activating β-catenin mutations. DPN-like melanomas are very rare but can be recognized through their overlapping morphologic and architectural features with DPN. Familial adenomatous polyposis (FAP) is a hereditary cancer predisposition syndrome associated with multiple tumor types including colorectal carcinoma and desmoid fibromatosis. Like DPN, FAP is also driven by activation of the Wnt pathway, most commonly through loss of function mutations in APC, which is a major negative regulator of β-catenin. Here we report two cases of DPN-like melanoma arising in FAP patients. While the small number of cases precludes definitive establishment of an etiologic link between these entities, the shared molecular pathogenesis of DPN-like lesions and FAP suggests that FAP patients may be at increased risk for this rare subtype of melanoma.
MeSH term(s)	Humans ; beta Catenin/metabolism ; Adenomatous Polyposis Coli/complications ; Adenomatous Polyposis Coli/genetics ; Adenomatous Polyposis Coli/pathology ; Melanoma/pathology ; Adenomatous Polyposis Coli Protein/genetics ; Mutation ; Nevus
Chemical Substances	beta Catenin ; Adenomatous Polyposis Coli Protein
Language	English
Publishing date	2023-02-06
Publishing country	United States
Document type	Case Reports
ZDB-ID	187078-6
ISSN	1600-0560 ; 0303-6987
ISSN (online)	1600-0560
ISSN	0303-6987
DOI	10.1111/cup.14393
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Zs.A 1043: Show issues

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Article ; Online: Existing and emerging technologies for tumor genomic profiling.

MacConaill, Laura E

Journal of clinical oncology : official journal of the American Society of Clinical Oncology

2013 Volume 31, Issue 15, Page(s) 1815–1824

Abstract: Ongoing global genome characterization efforts are revolutionizing our knowledge of cancer genomics and tumor biology. In parallel, information gleaned from these studies on driver cancer gene alterations--mutations, copy number alterations, ... ...

Abstract	Ongoing global genome characterization efforts are revolutionizing our knowledge of cancer genomics and tumor biology. In parallel, information gleaned from these studies on driver cancer gene alterations--mutations, copy number alterations, translocations, and/or chromosomal rearrangements--an be leveraged, in principle, to develop a cohesive framework for individualized cancer treatment. These possibilities have been enabled, to a large degree, by revolutionary advances in genomic technologies that facilitate systematic profiling for hallmark cancer genetic alterations at increasingly fine resolutions. Ongoing innovations in existing genomics technologies, as well as the many emerging technologies, will likely continue to advance translational cancer genomics and precision cancer medicine.
MeSH term(s)	Chromosome Aberrations ; Exome/genetics ; Gene Expression Profiling/methods ; Genomics/methods ; High-Throughput Nucleotide Sequencing/methods ; Humans ; Mutation ; Neoplasms/genetics ; Neoplasms/therapy ; Translational Medical Research/methods
Language	English
Publishing date	2013-04-15
Publishing country	United States
Document type	Journal Article ; Research Support, N.I.H., Extramural ; Research Support, Non-U.S. Gov't ; Review
ZDB-ID	604914-x
ISSN	1527-7755 ; 0732-183X
ISSN (online)	1527-7755
ISSN	0732-183X
DOI	10.1200/JCO.2012.46.5948
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Zs.A 1847: Show issues			Location: Je nach Verfügbarkeit (siehe Angabe bei Bestand) bis Jg. 1994: Bestellungen von Artikeln über das Online-Bestellformular Jg. 1995 - 2021: Lesesall (1.OG) ab Jg. 2022: Lesesaal (EG)
Zs.MO 650: Show issues

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Article ; Online: Hedgehog Pathway Alterations Downstream of Patched-1 Are Common in Infundibulocystic Basal Cell Carcinoma.

Russell-Goldman, Eleanor / MacConaill, Laura / Hanna, John

The American Journal of dermatopathology

2020 Volume 43, Issue 4, Page(s) 266–272

Abstract: Abstract: The infundibulocystic variant of basal cell carcinoma (BCC) is characterized histologically by anastamosing strands of basaloid epithelium with associated small infundibular-type cysts. Since its first description in 1987, this rare entity has ...

Abstract	Abstract: The infundibulocystic variant of basal cell carcinoma (BCC) is characterized histologically by anastamosing strands of basaloid epithelium with associated small infundibular-type cysts. Since its first description in 1987, this rare entity has generated considerable controversy with some authors classifying it as a benign follicular neoplasm rather than a BCC subtype. Prior studies aiming to settle this issue using immunohistochemical analysis reached opposite conclusions. The defining feature of BCC is activation of the Hedgehog signaling pathway, and mutations in Patched-1 (PTCH1) are the most common molecular finding in both sporadic and inherited forms of BCC. Mutations in other downstream components including Smoothened (SMO) and Suppressor of Fused (SUFU) also occur, but are much less common. Here, we report a molecular genetic analysis of a small series of infundibulocystic BCC using a next-generation DNA sequencing platform. All 4 cases harbored mutations or other genetic alterations in components of the Hedgehog pathway, supporting the classification of this entity as a BCC variant. Interestingly, these tumors were enriched for genetic alterations downstream of PTCH1, involving SUFU, SMO, GLI1, and GLI2. This observation was of particular interest given that rare kindreds of the Multiple Hereditary Infundibulocystic BCC syndrome (MHIBCC), which is related, but possibly distinct from the nevoid BCC syndrome, harbored mutations in SUFU. Our results support the classification of the infundibulocystic variant as a subtype of BCC, and suggest that the level at which genetic alterations occur within the Hedgehog pathway may be an important determinant of the morphologic features in BCC.
MeSH term(s)	Biomarkers, Tumor/genetics ; Carcinoma, Basal Cell/genetics ; Carcinoma, Basal Cell/pathology ; DNA Mutational Analysis ; High-Throughput Nucleotide Sequencing ; Humans ; Mutation ; Nuclear Proteins/genetics ; Patched-1 Receptor/genetics ; Repressor Proteins/genetics ; Retrospective Studies ; Skin Neoplasms/genetics ; Skin Neoplasms/pathology ; Smoothened Receptor/genetics ; Zinc Finger Protein GLI1/genetics ; Zinc Finger Protein Gli2/genetics
Chemical Substances	Biomarkers, Tumor ; GLI1 protein, human ; GLI2 protein, human ; Nuclear Proteins ; PTCH1 protein, human ; Patched-1 Receptor ; Repressor Proteins ; SMO protein, human ; SUFU protein, human ; Smoothened Receptor ; Zinc Finger Protein GLI1 ; Zinc Finger Protein Gli2
Language	English
Publishing date	2020-07-16
Publishing country	United States
Document type	Case Reports ; Journal Article
ZDB-ID	448469-1
ISSN	1533-0311 ; 0193-1091
ISSN (online)	1533-0311
ISSN	0193-1091
DOI	10.1097/DAD.0000000000001746
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Zs.A 1518: Show issues

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Article ; Online: Advancing personalized cancer medicine in lung cancer.

MacConaill, Laura E

Archives of pathology & laboratory medicine

2012 Volume 136, Issue 10, Page(s) 1210–1216

Abstract: Although improvements in genomic technologies during the past decade have greatly advanced our understanding of the genomic alterations that contribute to lung cancer, and the disease has (to a degree) become a paradigm for individualized cancer ... ...

Abstract	Although improvements in genomic technologies during the past decade have greatly advanced our understanding of the genomic alterations that contribute to lung cancer, and the disease has (to a degree) become a paradigm for individualized cancer treatment in solid tumors, additional challenges must be addressed before the goal of personalized cancer therapy can become a reality for lung cancer patients.
MeSH term(s)	Carcinoma, Non-Small-Cell Lung/genetics ; Carcinoma, Non-Small-Cell Lung/therapy ; Female ; Humans ; Lung Neoplasms/genetics ; Lung Neoplasms/therapy ; Male ; Precision Medicine/methods ; Precision Medicine/trends
Language	English
Publishing date	2012-10
Publishing country	United States
Document type	Journal Article ; Research Support, N.I.H., Extramural
ZDB-ID	194119-7
ISSN	1543-2165 ; 0363-0153 ; 0096-8528 ; 0003-9985
ISSN (online)	1543-2165
ISSN	0363-0153 ; 0096-8528 ; 0003-9985
DOI	10.5858/arpa.2012-0244-SA
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Ud II Zs.36: Show issues

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Article ; Online: Endometrial cancer with an

Craig, Jeffrey W / Quade, Bradley J / Muto, Michael G / MacConaill, Laura E

Cold Spring Harbor molecular case studies

2018 Volume 4, Issue 4

Abstract: An 85-yr-old woman was diagnosed with endometrial adenocarcinoma, endometrioid type. Imaging studies showed a large tumor distending the endometrial canal without evidence of local invasion or extrauterine disease. A hysterectomy was performed, followed ... ...

Abstract	An 85-yr-old woman was diagnosed with endometrial adenocarcinoma, endometrioid type. Imaging studies showed a large tumor distending the endometrial canal without evidence of local invasion or extrauterine disease. A hysterectomy was performed, followed by microscopic examination of longitudinal tissue sections. Histopathological review showed only focal myometrial invasion, equivocal lymphovascular invasion, and negative bilateral sentinel lymph nodes (FIGO stage IA). A sample of the tumor was submitted for molecular testing (massively parallel sequencing on OncoPanel) and was found to harbor an inversion on Chromosome 2 resulting in an
MeSH term(s)	Aged, 80 and over ; Carcinoma/genetics ; Carcinoma/pathology ; Endometrial Neoplasms/genetics ; Endometrial Neoplasms/pathology ; Female ; Humans ; Oncogene Proteins, Fusion/genetics
Chemical Substances	EML4-ALK fusion protein, human ; Oncogene Proteins, Fusion
Language	English
Publishing date	2018-08-01
Publishing country	United States
Document type	Case Reports ; Journal Article
ZDB-ID	2835759-0
ISSN	2373-2873 ; 2373-2873
ISSN (online)	2373-2873
ISSN	2373-2873
DOI	10.1101/mcs.a003020
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Article ; Online: Germline Testing Data Validate Inferences of Mutational Status for Variants Detected From Tumor-Only Sequencing.

Jalloul, Nahed / Gomy, Israel / Stokes, Samantha / Gusev, Alexander / Johnson, Bruce E / Lindeman, Neal I / Macconaill, Laura / Ganesan, Shridar / Garber, Judy E / Khiabanian, Hossein

JCO precision oncology

2021 Volume 5

Abstract: Pathogenic germline variants (PGVs) in cancer susceptibility genes are usually identified through germline testing of DNA from blood or saliva: their detection can affect treatment options and potential risk-reduction strategies for patient relatives. ... ...

Abstract	Pathogenic germline variants (PGVs) in cancer susceptibility genes are usually identified through germline testing of DNA from blood or saliva: their detection can affect treatment options and potential risk-reduction strategies for patient relatives. PGV can also be identified in tumor sequencing assays, which, when performed without patient-matched normal specimens, render determination of variants' germline or somatic origin critical. Methods: Tumor-only sequencing data from 1,608 patients were retrospectively analyzed to infer germline versus somatic status of variants using an information-theoretic, gene-independent approach. Loss of heterozygosity was also determined. Predicted mutational models were compared with clinical germline testing results. Statistical measures were computed to evaluate performance. Results: Tumor-only sequencing detected 3,988 variants across 70 cancer susceptibility genes for which germline testing data were available. We imputed germline versus somatic status for > 75% of all detected variants, with a sensitivity of 65%, specificity of 88%, and overall accuracy of 86% for pathogenic variants. False omission rate was 3%, signifying minimal error in misclassifying true PGV. A higher portion of PGV in known hereditary tumor suppressors were found to be retained with loss of heterozygosity in the tumor specimens (72%) compared with variants of uncertain significance (58%). Conclusion: Analyzing tumor-only data in the context of specimens' tumor cell content allows precise, systematic exclusion of somatic variants and suggests a balance between type 1 and 2 errors for identification of patients with candidate PGV for standard germline testing. Although technical or systematic errors in measuring variant allele frequency could result in incorrect inference, misestimation of specimen purity could result in inferring somatic variants as germline in somatically mutated tumor suppressor genes. A user-friendly bioinformatics application facilitates objective analysis of tumor-only data in clinical settings.
MeSH term(s)	Adolescent ; Adult ; Aged ; Aged, 80 and over ; Child ; Child, Preschool ; Cohort Studies ; Female ; Germ Cells ; Humans ; Infant ; Male ; Middle Aged ; Mutation/genetics ; Mutation/physiology ; Neoplasms/genetics ; Whole Genome Sequencing/methods
Language	English
Publishing date	2021-11-17
Publishing country	United States
Document type	Journal Article ; Research Support, N.I.H., Extramural ; Research Support, Non-U.S. Gov't
ISSN	2473-4284
ISSN (online)	2473-4284
DOI	10.1200/PO.21.00279
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Article ; Online: Brave-ish New World--What's Needed to Make Precision Oncology a Practical Reality.

MacConaill, Laura E / Lindeman, Neal I / Rollins, Barrett J

JAMA oncology

2015 Volume 1, Issue 7, Page(s) 879–880

MeSH term(s)	Biomarkers, Tumor/genetics ; Diffusion of Innovation ; Genetic Predisposition to Disease ; Genetic Testing/trends ; Humans ; Medical Oncology/trends ; Neoplasms/diagnosis ; Neoplasms/genetics ; Neoplasms/therapy ; Patient Selection ; Phenotype ; Precision Medicine/trends ; Predictive Value of Tests ; Prognosis ; Reproducibility of Results
Chemical Substances	Biomarkers, Tumor
Language	English
Publishing date	2015-10
Publishing country	United States
Document type	Journal Article
ISSN	2374-2445
ISSN (online)	2374-2445
DOI	10.1001/jamaoncol.2015.1540
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Article ; Online: Clinical implications of the cancer genome.

Macconaill, Laura E / Garraway, Levi A

Journal of clinical oncology : official journal of the American Society of Clinical Oncology

2010 Volume 28, Issue 35, Page(s) 5219–5228

Abstract: Cancer is a disease of the genome. Most tumors harbor a constellation of structural genomic alterations that may dictate their clinical behavior and treatment response. Whereas elucidating the nature and importance of these genomic alterations has been ... ...

Abstract	Cancer is a disease of the genome. Most tumors harbor a constellation of structural genomic alterations that may dictate their clinical behavior and treatment response. Whereas elucidating the nature and importance of these genomic alterations has been the goal of cancer biologists for several decades, ongoing global genome characterization efforts are revolutionizing both tumor biology and the optimal paradigm for cancer treatment at an unprecedented scope. The pace of advance has been empowered, in large part, through disruptive technological innovations that render complete cancer genome characterization feasible on a large scale. This article highlights cardinal biologic and clinical insights gleaned from systematic cancer genome characterization. We also discuss how the convergence of cancer genome biology, technology, and targeted therapeutics articulates a cohesive framework for the advent of personalized cancer medicine.
MeSH term(s)	Animals ; Genome, Human ; Humans ; Neoplasms/genetics ; Precision Medicine/methods
Language	English
Publishing date	2010-10-25
Publishing country	United States
Document type	Journal Article ; Research Support, N.I.H., Extramural ; Research Support, Non-U.S. Gov't ; Review
ZDB-ID	604914-x
ISSN	1527-7755 ; 0732-183X
ISSN (online)	1527-7755
ISSN	0732-183X
DOI	10.1200/JCO.2009.27.4944
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Zs.A 1847: Show issues			Location: Je nach Verfügbarkeit (siehe Angabe bei Bestand) bis Jg. 1994: Bestellungen von Artikeln über das Online-Bestellformular Jg. 1995 - 2021: Lesesall (1.OG) ab Jg. 2022: Lesesaal (EG)
Zs.MO 650: Show issues

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