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Article ; Online: Primary cutaneous gamma/delta T-cell lymphoma with simultaneous JAK2 and TP63 rearrangements: a new double-hit?

Fadl, Amr / Bennani, N Nora / Comfere, Nneka / Durani, Urshila / Greipp, Patricia T / Feldman, Andrew L

2023 Volume 83, Issue 3, Page(s) 492–495

MeSH term(s)	Humans ; Gene Rearrangement ; Lymphoma, Large-Cell, Anaplastic/pathology ; Lymphoma, T-Cell, Cutaneous/genetics ; Transcription Factors/genetics ; Tumor Suppressor Proteins/genetics ; Janus Kinase 2/genetics
Chemical Substances	TP63 protein, human ; Transcription Factors ; Tumor Suppressor Proteins ; JAK2 protein, human (EC 2.7.10.2) ; Janus Kinase 2 (EC 2.7.10.2)
Language	English
Publishing date	2023-06-12
Publishing country	England
Document type	Letter
ZDB-ID	131914-0
ISSN	1365-2559 ; 0309-0167
ISSN (online)	1365-2559
ISSN	0309-0167
DOI	10.1111/his.14973
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Zs.A 1328: Show issues

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Article ; Online: Myeloid malignancies in cancer patients treated with poly(ADP-ribose) polymerase (PARP) inhibitors: a case series.

Oliveira, Jennifer L / Greipp, Patricia T / Rangan, Aruna / Jatoi, Aminah / Nguyen, Phuong L

Blood cancer journal

2022 Volume 12, Issue 1, Page(s) 11

MeSH term(s)	Aged ; Bone Marrow/pathology ; Cytogenetic Analysis ; Female ; Humans ; Leukemia, Myeloid, Acute/chemically induced ; Leukemia, Myeloid, Acute/genetics ; Leukemia, Myeloid, Acute/pathology ; Middle Aged ; Myelodysplastic Syndromes/chemically induced ; Myelodysplastic Syndromes/genetics ; Myelodysplastic Syndromes/pathology ; Neoplasms/drug therapy ; Poly(ADP-ribose) Polymerase Inhibitors/adverse effects ; Poly(ADP-ribose) Polymerase Inhibitors/therapeutic use
Chemical Substances	Poly(ADP-ribose) Polymerase Inhibitors
Language	English
Publishing date	2022-01-25
Publishing country	United States
Document type	Case Reports ; Letter
ZDB-ID	2600560-8
ISSN	2044-5385 ; 2044-5385
ISSN (online)	2044-5385
ISSN	2044-5385
DOI	10.1038/s41408-022-00607-7
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Article ; Online: Anaplastic Kaposi Sarcoma: A Clinicopathologic and Molecular Genetic Analysis.

Fischer, Grant M / Gliem, Troy J / Greipp, Patricia T / Rosenberg, Andrew E / Folpe, Andrew L / Hornick, Jason L

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

2023 Volume 36, Issue 8, Page(s) 100191

Abstract: Kaposi sarcoma (KS) is a human herpesvirus 8 (HHV8)-associated vascular proliferation that most often involves the skin. Rarely, KS shows marked nuclear atypia or pleomorphism; such examples are known as "anaplastic" KS. This poorly characterized variant ...

Abstract	Kaposi sarcoma (KS) is a human herpesvirus 8 (HHV8)-associated vascular proliferation that most often involves the skin. Rarely, KS shows marked nuclear atypia or pleomorphism; such examples are known as "anaplastic" KS. This poorly characterized variant often pursues an aggressive course; little is known of its genetic landscape. This study evaluated the clinicopathologic and genomic features of anaplastic KS. We identified 9 anaplastic KS cases from 7 patients and 8 conventional KS cases, including a matched conventional KS and primary metastasis anaplastic KS pair from a single patient (anaplastic KS diagnosed 9 years after conventional KS). All patients with anaplastic KS were men, aged 51 to 82 years, who had locally aggressive tumors predominantly affecting the soft tissue and bone of the lower extremities (5/7 patients). Four patients were known to be HIV positive (all on antiretrovirals), 2 were HIV negative, and 1 was of unknown HIV status. The tumors showed angiosarcoma-like or pleomorphic spindle cell sarcoma morphology. Plasma cell-rich chronic inflammation and hemosiderin deposition were commonly present. Single-nucleotide polymorphism-based chromosomal microarray analysis showed the anaplastic KS cohort to demonstrate highly recurrent whole chromosome (chr) gains of chr 7, 11, 19, and 21, which primarily affected olfactory and G protein-coupled receptor signaling and losses of chr6_q and chrY. Compared with conventional KS, anaplastic KS cases showed significantly more total copy number alterations and more frequent gains of chr7 and chr11_q13.1 (MARK2, RELA, and ESRRA, including high copy number gain in 1 case). Pathway analysis demonstrated that these gains preferentially affected genes that facilitate cyclin-dependent cell signaling. Furthermore, anaplastic KS cases were phylogenetically distinct from conventional KS cases, including the patient-matched primary metastasis anaplastic KS pair and conventional KS. Our study is the first to demonstrate that a more complex genome and distinct copy number alterations distinguish anaplastic KS from conventional KS. Gains of chr7 and chr11_q13.1 appear central to biological transformation.
MeSH term(s)	Male ; Humans ; Female ; Sarcoma, Kaposi/genetics ; Sarcoma, Kaposi/diagnosis ; Sarcoma, Kaposi/pathology ; Herpesvirus 8, Human/genetics ; Skin Neoplasms/pathology ; HIV Infections ; Molecular Biology
Language	English
Publishing date	2023-04-18
Publishing country	United States
Document type	Journal Article
ZDB-ID	645073-8
ISSN	1530-0285 ; 0893-3952
ISSN (online)	1530-0285
ISSN	0893-3952
DOI	10.1016/j.modpat.2023.100191
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Zs.A 2450: Show issues

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Article ; Online: Cytogenetic and pathologic characterization of MYC-rearranged B-cell lymphomas in pediatric and young adult patients.

Gagnon, Marie-France / Bruehl, Frido K / Sill, Daniel R / Meyer, Reid G / Greipp, Patricia T / Hoppman, Nicole L / Xu, Xinjie / Baughn, Linda B / Peterson, Jess F / McPhail, Ellen D / Ketterling, Rhett P / King, Rebecca L

Journal of hematopathology

2024

Abstract: MYC-rearranged B-cell lymphoma (BCL) in the pediatric/young adult (YA) age group differs substantially in disease composition from adult cohorts. However, data regarding the partner genes, concurrent rearrangements, and ultimate diagnoses in these ... ...

Abstract	MYC-rearranged B-cell lymphoma (BCL) in the pediatric/young adult (YA) age group differs substantially in disease composition from adult cohorts. However, data regarding the partner genes, concurrent rearrangements, and ultimate diagnoses in these patients is scarce compared to that in adult cohorts. We aimed to characterize the spectrum of MYC-rearranged (MYC-R) mature, aggressive BCL in the pediatric/YA population. A retrospective study of morphologic, immunophenotypic, and fluorescence in situ hybridization (FISH) results of patients age ≤ 30 years with suspected Burkitt lymphoma (BL), diffuse large B-cell lymphoma (DLBCL) or high-grade B-cell lymphoma (HGBCL), and a MYC-R by FISH between 2013-2022 was performed. Two-hundred fifty-eight cases (129 (50%) pediatric (< 18 years) and 129 (50%) YA (18-30 years)) were included. Most MYC-R BCL in pediatric (89%) and YA (66%) cases were BL. While double-hit (DH) cytogenetics (MYC with BCL2 and/or BCL6-R, HGBCL-DH) was rare in the pediatric population (2/129, 2%), HGBCL-DH increased with age and was identified in 17/129 (13%) of YA cases. Most HGBCL-DH had MYC and BCL6-R, while BCL2-R were rare in both groups (3/258, 1%). MYC-R without an IG partner was more common in the YA group (14/116 (12%) vs 2/128 (2%), p = 0.001). The pediatric to YA transition is characterized by decreasing frequency in BL and increasing genetic heterogeneity of MYC-R BCL, with emergence of DH-BCL with MYC and BCL6-R. FISH to evaluate for BCL2 and BCL6 rearrangements is likely not warranted in the pediatric population but should continue to be applied in YA BCL.
Language	English
Publishing date	2024-04-02
Publishing country	Germany
Document type	Journal Article
ZDB-ID	2438687-X
ISSN	1865-5785 ; 1868-9256
ISSN (online)	1865-5785
ISSN	1868-9256
DOI	10.1007/s12308-024-00579-6
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Article: Case Report with Review of the Literature: Uveal Melanoma in a Patient with Carney Complex - Another Rare Component of the Syndrome?

Salomão, Diva R / Ida, Cristiane M / Greipp, Patricia T / Carney, J Aidan

Ocular oncology and pathology

2020 Volume 6, Issue 5, Page(s) 311–317

Abstract: A 74-year-old woman with Carney complex (CNC) and complaints of poor vision was found, on ophthalmic examination, to have a pigmented tumor involving the peripheral choroid and ciliary body in her right eye. The eye was enucleated and showed a ... ...

Abstract	A 74-year-old woman with Carney complex (CNC) and complaints of poor vision was found, on ophthalmic examination, to have a pigmented tumor involving the peripheral choroid and ciliary body in her right eye. The eye was enucleated and showed a ciliochoroidal melanoma with marked pleomorphism. The tumor did not recur or metastasize after almost 10 years of follow-up, and the patient died of unrelated causes. Molecular studies revealed a complex genome with multiple whole-chromosome losses including monosomy of chromosomes 1, 2 (including loss of
Language	English
Publishing date	2020-04-21
Publishing country	Switzerland
Document type	Case Reports
ZDB-ID	2806965-1
ISSN	2296-4657 ; 2296-4681
ISSN (online)	2296-4657
ISSN	2296-4681
DOI	10.1159/000506205
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Article ; Online: Pure (acute) erythroid leukemia: morphology, immunophenotype, cytogenetics, mutations, treatment details, and survival data among 41 Mayo Clinic cases.

Reichard, Kaaren K / Tefferi, Ayalew / Abdelmagid, Maymona / Orazi, Attilio / Alexandres, Christina / Haack, Joanna / Greipp, Patricia T

Blood cancer journal

2022 Volume 12, Issue 11, Page(s) 147

Abstract: Pure erythroid leukemia (PEL), also known as acute erythroid leukemia (AEL), is recognized as a distinct morphologic entity by both the 2016 and 2022 World Health Organization (WHO) classification system. By contrast, the 2022 International Consensus ... ...

Abstract	Pure erythroid leukemia (PEL), also known as acute erythroid leukemia (AEL), is recognized as a distinct morphologic entity by both the 2016 and 2022 World Health Organization (WHO) classification system. By contrast, the 2022 International Consensus Classification (ICC) includes PEL under a broader category of "acute myeloid leukemia with mutated TP53". We identified 41 Mayo Clinic cases of PEL (mean age 66 years, range 27-86; 71% males) and provide a comprehensive account of bone marrow morphology, immunophenotype, cytogenetic and mutation profiles. PEL was primary in 14 cases, therapy-related in 14, secondary in 12, and undetermined in one. All cases expressed biallelic TP53 alterations, including TP53 deletion/single TP53 mutation (68%), two TP53 mutations (29%) or two TP53 deletions (3%); additional mutations were infrequent. Karyotype was complex in all cases and monosomal in 90%. Treatment details were available in 29 patients: hypomethylating agent (HMA) alone (n = 5), HMA + venetoclax (n = 12), intensive chemotherapy (n = 4), supportive care/other (n = 8); no responses or allogeneic stem cell transplants were documented, and all patients died at a median 1.8 months (range 0.2-9.3). The current study highlights a consistent and reproducible set of morphologic and genetic characteristics that identify PEL as a distinct AML variant whose dismal prognosis requires urgent attention.
MeSH term(s)	Adult ; Aged ; Aged, 80 and over ; Female ; Humans ; Male ; Middle Aged ; Cytogenetic Analysis ; Immunophenotyping ; Leukemia, Erythroblastic, Acute/genetics ; Leukemia, Erythroblastic, Acute/therapy ; Leukemia, Myeloid, Acute/genetics ; Mutation ; Tumor Suppressor Protein p53/genetics
Chemical Substances	Tumor Suppressor Protein p53
Language	English
Publishing date	2022-11-02
Publishing country	United States
Document type	Journal Article
ZDB-ID	2600560-8
ISSN	2044-5385 ; 2044-5385
ISSN (online)	2044-5385
ISSN	2044-5385
DOI	10.1038/s41408-022-00746-x
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Article ; Online: Gene fusions in gastrointestinal tract cancers.

Rahi, Hamed / Olave, Maria C / Fritchie, Karen J / Greipp, Patricia T / Halling, Kevin C / Kipp, Benjamin R / Graham, Rondell P

Genes, chromosomes & cancer

2022 Volume 61, Issue 5, Page(s) 285–297

Abstract: Fusion genes have been identified in a wide array of human neoplasms including hematologic and solid tumors, including gastrointestinal tract neoplasia. A fusion gene is the product of parts of two genes that are joined together following a deletion, ... ...

Abstract	Fusion genes have been identified in a wide array of human neoplasms including hematologic and solid tumors, including gastrointestinal tract neoplasia. A fusion gene is the product of parts of two genes that are joined together following a deletion, translocation, or chromosomal inversion. Together with single nucleotide variants, insertions, deletions, and amplification, fusion genes represent one of the key genomic mechanisms for tumor development. Detecting fusions in the clinic is accomplished by a variety of techniques including break-apart fluorescence in situ hybridization, reverse transcription-polymerase chain reaction, and next-generation sequencing. Some recurrent gene fusions have been successfully targeted by small molecule or monoclonal antibody therapies (ie targeted therapies), while others are used as biomarkers for diagnostic and prognostic purposes. The purpose of this review article is to discuss the clinical utility of detection of gene fusions in carcinomas and neoplasms arising primarily in the digestive system.
MeSH term(s)	Gastrointestinal Neoplasms/genetics ; Gene Fusion ; Genomics ; High-Throughput Nucleotide Sequencing ; Humans ; In Situ Hybridization, Fluorescence/methods ; Oncogene Proteins, Fusion/genetics
Chemical Substances	Oncogene Proteins, Fusion
Language	English
Publishing date	2022-03-13
Publishing country	United States
Document type	Journal Article ; Review
ZDB-ID	1018988-9
ISSN	1098-2264 ; 1045-2257
ISSN (online)	1098-2264
ISSN	1045-2257
DOI	10.1002/gcc.23035
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Zs.A 2966: Show issues

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Article ; Online: Immunohistochemistry for TFE3 lacks specificity and sensitivity in the diagnosis of TFE3-rearranged neoplasms: a comparative, 2-laboratory study.

Sharain, Rosalind F / Gown, Allen M / Greipp, Patricia T / Folpe, Andrew L

Human pathology

2019 Volume 87, Page(s) 65–74

Abstract: TFE3 rearrangements are characteristic of alveolar soft part sarcomas (ASPS), Xp11.2 translocation renal cell carcinomas (Xp11-RCC), and other rare tumors. Immunohistochemistry for TFE3 protein has been considered by some to be a reliable surrogate for ... ...

Abstract	TFE3 rearrangements are characteristic of alveolar soft part sarcomas (ASPS), Xp11.2 translocation renal cell carcinomas (Xp11-RCC), and other rare tumors. Immunohistochemistry for TFE3 protein has been considered by some to be a reliable surrogate for TFE3 molecular studies, although others disagree. We compared 2 methods for TFE3 immunohistochemistry to determine if technical differences underlie these differences. Ninety-eight archival cases of mixed type, 19 ASPS, and 8 Xp11-RCC were stained for TFE3 at Laboratory A and Laboratory B using routine protocols. Positive controls were normal human testis (Laboratory A) and Xp11-RCC (Laboratory B). Nuclear staining was scored as "negative," "1+" (<10%), "2+" (10%-50%), and "3+" (>50%). Intensity was scored as "negative," "weak," "moderate," or "strong." Only moderate-strong, 2+ or 3+ staining was considered positive. Laboratory A results were as follows: archival cases (42 of 98, 43%), ASPS (16 of 19, 84%), and Xp11-RCC (7 of 8, 88%). Laboratory B results were as follows: archival cases (5 of 98, 5%), ASPS (14 of 19, 74%), and Xp11-RCC (5 of 8, 63%). TFE3 fluorescence in situ hybridization was positive in all tested ASPS and Xp11-RCC. The overall sensitivity and specificity of TFE3 immunohistochemistry for TFE3-rearranged neoplasms were 85% (23/27) and 57% (56/98) at Laboratory A and 70% (19/27) and 95% (93/98) at Laboratory B. Technical differences, in particular, the type of control tissue, likely account for these different results. The results of our study and prior studies suggest that TFE3 immunohistochemistry should play only a minor role (if any) in the diagnosis of TFE3-rearranged tumors, with fluorescence in situ hybridization representing the preferred method.
MeSH term(s)	Basic Helix-Loop-Helix Leucine Zipper Transcription Factors/metabolism ; Female ; Gene Rearrangement ; Humans ; Immunohistochemistry ; In Situ Hybridization, Fluorescence ; Male ; Sensitivity and Specificity ; Soft Tissue Neoplasms/diagnosis ; Soft Tissue Neoplasms/genetics ; Soft Tissue Neoplasms/metabolism ; Soft Tissue Neoplasms/pathology
Chemical Substances	Basic Helix-Loop-Helix Leucine Zipper Transcription Factors ; TFE3 protein, human
Language	English
Publishing date	2019-03-06
Publishing country	United States
Document type	Comparative Study ; Journal Article
ZDB-ID	207657-3
ISSN	1532-8392 ; 0046-8177
ISSN (online)	1532-8392
ISSN	0046-8177
DOI	10.1016/j.humpath.2019.02.008
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Zs.A 722: Show issues

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Article ; Online: A

Venable, Elise R / Gagnon, Marie-France / Pitel, Beth A / Palmer, Jeanne M / Peterson, Jess F / Baughn, Linda B / Hoppman, Nicole L / Greipp, Patricia T / Ketterling, Rhett P / Patnaik, Mrinal S / Kelemen, Katalin / Xu, Xinjie

Cold Spring Harbor molecular case studies

2023 Volume 9, Issue 1

Abstract: Myeloid/lymphoid neoplasms ... ...

Abstract	Myeloid/lymphoid neoplasms with
MeSH term(s)	Humans ; Male ; Cytoskeletal Proteins/genetics ; Eosinophilia/genetics ; fms-Like Tyrosine Kinase 3/genetics ; Gene Fusion ; In Situ Hybridization, Fluorescence ; Lymphoma/genetics ; Myeloproliferative Disorders/diagnosis ; Myeloproliferative Disorders/drug therapy ; Myeloproliferative Disorders/genetics ; Oncogene Proteins, Fusion/genetics ; Protein-Tyrosine Kinases ; Adult
Chemical Substances	Cytoskeletal Proteins ; FLT3 protein, human (EC 2.7.10.1) ; fms-Like Tyrosine Kinase 3 (EC 2.7.10.1) ; Oncogene Proteins, Fusion ; Protein-Tyrosine Kinases (EC 2.7.10.1) ; TRIP11 protein, human
Language	English
Publishing date	2023-03-24
Publishing country	United States
Document type	Review ; Case Reports ; Journal Article ; Research Support, Non-U.S. Gov't
ZDB-ID	2835759-0
ISSN	2373-2873 ; 2373-2873
ISSN (online)	2373-2873
ISSN	2373-2873
DOI	10.1101/mcs.a006243
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Article ; Online: TET2 somatic copy number alterations and allelic imbalances in chronic myelomonocytic leukemia.

Gurney, Mark / Greipp, Patricia T / Gliem, Troy / Knudson, Ryan / Al-Kali, Aref / Gangat, Naseema / Lasho, Terra / Mangaonkar, Abhishek A / Finke, Christy M / Patnaik, Mrinal M

Leukemia research

2023 Volume 134, Page(s) 107391

MeSH term(s)	Humans ; Leukemia, Myelomonocytic, Chronic/genetics ; DNA Copy Number Variations ; Allelic Imbalance ; Myelodysplastic Syndromes ; Mutation ; DNA-Binding Proteins/genetics ; Dioxygenases
Chemical Substances	TET2 protein, human (EC 1.13.11.-) ; DNA-Binding Proteins ; Dioxygenases (EC 1.13.11.-)
Language	English
Publishing date	2023-09-20
Publishing country	England
Document type	Letter
ZDB-ID	752396-8
ISSN	1873-5835 ; 0145-2126
ISSN (online)	1873-5835
ISSN	0145-2126
DOI	10.1016/j.leukres.2023.107391
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