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  1. Article ; Online: Neonatal osteoblastic tumor with a novel PTBP1::FOSB fusion.

    Blackburn, Patrick R / Douglass, David P / Ramakrishnaiah, Raghu H / Montgomery, Corey O / Shi, Zonggao / Wheeler, David A / Koo, Selene C

    Genes, chromosomes & cancer

    2023  Volume 62, Issue 10, Page(s) 611–616

    Abstract: Congenital/neonatal bone neoplasms are extremely rare. We present the case of a patient with a neonatal bone tumor of the fibula that had osteoblastic differentiation and a novel PTBP1::FOSB fusion. FOSB fusions are described in several different tumor ... ...

    Abstract Congenital/neonatal bone neoplasms are extremely rare. We present the case of a patient with a neonatal bone tumor of the fibula that had osteoblastic differentiation and a novel PTBP1::FOSB fusion. FOSB fusions are described in several different tumor types, including osteoid osteoma and osteoblastoma; however, these tumors typically present in the second or third decade of life, with case reports as young as 4 months of age. Our case expands the spectrum of congenital/neonatal bone lesions. The initial radiologic, histologic, and molecular findings supported the decision for close clinical follow-up rather than more aggressive intervention. Since the time of diagnosis, this tumor has undergone radiologic regression without treatment.
    MeSH term(s) Infant, Newborn ; Humans ; Osteoma, Osteoid/diagnosis ; Osteoma, Osteoid/pathology ; Osteoblastoma/diagnosis ; Osteoblastoma/pathology ; Bone Neoplasms/pathology ; Diagnosis, Differential ; Proto-Oncogene Proteins c-fos/genetics ; Heterogeneous-Nuclear Ribonucleoproteins ; Polypyrimidine Tract-Binding Protein
    Chemical Substances FOSB protein, human ; Proto-Oncogene Proteins c-fos ; PTBP1 protein, human ; Heterogeneous-Nuclear Ribonucleoproteins ; Polypyrimidine Tract-Binding Protein (139076-35-0)
    Language English
    Publishing date 2023-05-03
    Publishing country United States
    Document type Case Reports ; Journal Article
    ZDB-ID 1018988-9
    ISSN 1098-2264 ; 1045-2257
    ISSN (online) 1098-2264
    ISSN 1045-2257
    DOI 10.1002/gcc.23149
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  2. Article ; Online: What Is the Prevalence of Clinically Important Findings Among Incidentally Found Osseous Lesions?

    Blackburn, Collin W / Richardson, Spencer M / DeVita, Robert R / Dong, Oliver / Faraji, Navid / Wurtz, L Daniel / Collier, Christopher D / Getty, Patrick J

    Clinical orthopaedics and related research

    2023  Volume 481, Issue 10, Page(s) 1993–2002

    Abstract: Background: Patients with incidentally found musculoskeletal lesions are regularly referred to orthopaedic oncology. Most orthopaedic oncologists understand that many incidental findings are nonaggressive and can be managed nonoperatively. However, the ... ...

    Abstract Background: Patients with incidentally found musculoskeletal lesions are regularly referred to orthopaedic oncology. Most orthopaedic oncologists understand that many incidental findings are nonaggressive and can be managed nonoperatively. However, the prevalence of clinically important lesions (defined as those indicated for biopsy or treatment, and those found to be malignant) remains unknown. Missing clinically important lesions can result in harm to patients, but needless surveillance may exacerbate patient anxiety about their diagnosis and accrue low-value costs to the payor.
    Questions/purposes: (1) What percentage of patients with incidentally discovered osseous lesions referred to orthopaedic oncology had lesions that were clinically important, defined as those receiving biopsy or treatment or those found to be malignant? (2) Using standardized Medicare reimbursements as a surrogate for payor expense, what is the value of reimbursements accruing to the hospital system for the imaging of incidentally found osseous lesions performed during the initial workup period and during the surveillance period, if indicated?
    Methods: This was a retrospective study of patients referred to orthopaedic oncology for incidentally found osseous lesions at two large academic hospital systems. Medical records were queried for the word "incidental," and matches were confirmed by manual review. Patients evaluated at Indiana University Health between January 1, 2014, and December 31, 2020, and those evaluated at University Hospitals between January 1, 2017, and December 31, 2020, were included. All patients were evaluated and treated by the two senior authors of this study and no others were included. Our search identified 625 patients. Sixteen percent (97 of 625) of patients were excluded because their lesions were not incidentally found, and 12% (78 of 625) were excluded because the incidental findings were not bone lesions. Another 4% (24 of 625) were excluded because they had received workup or treatment by an outside orthopaedic oncologist, and 2% (10 of 625) were excluded for missing information. A total of 416 patients were available for preliminary analysis. Among these patients, 33% (136 of 416) were indicated for surveillance. The primary indication for surveillance included lesions with a benign appearance on imaging and low clinical suspicion of malignancy or fracture. A total of 33% (45 of 136) of these patients had less than 12 months of follow-up and were excluded from further analysis. No minimum follow-up criteria were applied to patients not indicated for surveillance because this would artificially inflate our estimated rate of clinically important findings. A total of 371 patients were included in the final study group. Notes from all clinical encounters with orthopaedic and nonorthopaedic providers were screened for our endpoints (biopsy, treatment, or malignancy). Indications for biopsy included lesions with aggressive features, lesions with nonspecific imaging characteristics and a clinical picture concerning for malignancy, and lesion changes seen on imaging during the surveillance period. Indications for treatment included lesions with increased risk of fracture or deformity, certain malignancies, and pathologic fracture. Diagnoses were determined using biopsy results if available or the documented opinion of the consulting orthopaedic oncologist. Imaging reimbursements were obtained from the Medicare Physician Fee Schedule for 2022. Because imaging charges vary across institutions and reimbursements vary across payors, this method was chosen to enhance the comparability of our findings across multiple health systems and studies.
    Results: Seven percent (26 of 371) of incidental findings were determined to be clinically important, as previously defined. Five percent (20 of 371) of lesions underwent tissue biopsy, and 2% (eight of 371) received surgical intervention. Fewer than 2% (six of 371) of lesions were malignant. Serial imaging changed the treatment of 1% (two of 136) of the patients, corresponding to a rate of one in 47 person-years. Median reimbursements to work up the incidental findings analyzed was USD 219 (interquartile range USD 0 to 404), with a range of USD 0 to 890. Among patients indicated for surveillance, the median annual reimbursement was USD 78 (IQR USD 0 to 389), with a range of USD 0 to 2706.
    Conclusion: The prevalence of clinically important findings among patients referred to orthopaedic oncology for incidentally found osseous lesions is modest. The likelihood of surveillance resulting in a change of management was low, but the median reimbursements associated with following these lesions was also low. We conclude that after appropriate risk stratification by orthopaedic oncology, incidental lesions are rarely clinically important, and judicious follow-up with serial imaging can be performed without incurring high costs.
    Level of evidence: Level III, therapeutic study.
    MeSH term(s) Humans ; Aged ; United States/epidemiology ; Retrospective Studies ; Prevalence ; Medicare ; Bone and Bones ; Neoplasms
    Language English
    Publishing date 2023-03-27
    Publishing country United States
    Document type Journal Article
    ZDB-ID 80301-7
    ISSN 1528-1132 ; 0009-921X
    ISSN (online) 1528-1132
    ISSN 0009-921X
    DOI 10.1097/CORR.0000000000002630
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  3. Article ; Online: Atypical teratoid/rhabdoid tumour-TYR subtype arising in the setting of germline ring chromosome 22: An uncommon form of tumour predisposition.

    Lee, Julieann C / Tran, Quynh T / McGee, Rose B / Perrino, Melissa R / Upadhyaya, Santhosh A / Hanzlik, Emily M / Pytel, Nicholas / Carroll, Andrew J / Orisme, Wilda / Eldomery, Mohammad / Wang, Lu / Blackburn, Patrick R / Furtado, Larissa V / Viaene, Angela N / Luo, Minjie / Kalish, Jennifer M / Pinto, Soniya N / Bag, Asim K / Orr, Brent A

    Neuropathology and applied neurobiology

    2024  Volume 50, Issue 2, Page(s) e12971

    MeSH term(s) Humans ; Rhabdoid Tumor/genetics ; Rhabdoid Tumor/pathology ; Ring Chromosomes ; SMARCB1 Protein/genetics ; Central Nervous System Neoplasms ; Germ Cells/pathology ; Teratoma/genetics
    Chemical Substances SMARCB1 Protein
    Language English
    Publishing date 2024-03-15
    Publishing country England
    Document type Journal Article
    ZDB-ID 80371-6
    ISSN 1365-2990 ; 0305-1846
    ISSN (online) 1365-2990
    ISSN 0305-1846
    DOI 10.1111/nan.12971
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  4. Article ; Online: Pathogenic mutations in the chromokinesin KIF22 disrupt anaphase chromosome segregation.

    Thompson, Alex F / Blackburn, Patrick R / Arons, Noah S / Stevens, Sarah N / Babovic-Vuksanovic, Dusica / Lian, Jane B / Klee, Eric W / Stumpff, Jason

    eLife

    2022  Volume 11

    Abstract: The chromokinesin KIF22 generates forces that contribute to mitotic chromosome congression and alignment. Mutations in the α2 helix of the motor domain of KIF22 have been identified in patients with abnormal skeletal development, and we report the ... ...

    Abstract The chromokinesin KIF22 generates forces that contribute to mitotic chromosome congression and alignment. Mutations in the α2 helix of the motor domain of KIF22 have been identified in patients with abnormal skeletal development, and we report the identification of a patient with a novel mutation in the KIF22 tail. We demonstrate that pathogenic mutations do not result in a loss of KIF22's functions in early mitosis. Instead, mutations disrupt chromosome segregation in anaphase, resulting in reduced proliferation, abnormal daughter cell nuclear morphology, and, in a subset of cells, cytokinesis failure. This phenotype could be explained by a failure of KIF22 to inactivate in anaphase. Consistent with this model, constitutive activation of the motor via a known site of phosphoregulation in the tail phenocopied the effects of pathogenic mutations. These results suggest that the motor domain α2 helix may be an important site for regulation of KIF22 activity at the metaphase to anaphase transition. In support of this conclusion, mimicking phosphorylation of α2 helix residue T158 also prevents inactivation of KIF22 in anaphase. These findings demonstrate the importance of both the head and tail of the motor in regulating the activity of KIF22 and offer insight into the cellular consequences of preventing KIF22 inactivation and disrupting force balance in anaphase.
    MeSH term(s) Anaphase ; Chromosome Segregation ; DNA-Binding Proteins/genetics ; Kinesins/genetics ; Metaphase ; Mitosis ; Mutation ; Nuclear Proteins/genetics ; Spindle Apparatus
    Chemical Substances DNA-Binding Proteins ; Nuclear Proteins ; chromokinesin ; Kinesins (EC 3.6.4.4)
    Language English
    Publishing date 2022-06-22
    Publishing country England
    Document type Journal Article ; Research Support, N.I.H., Extramural
    ZDB-ID 2687154-3
    ISSN 2050-084X ; 2050-084X
    ISSN (online) 2050-084X
    ISSN 2050-084X
    DOI 10.7554/eLife.78653
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  5. Article ; Online: Constitutional balanced translocations involving SMARCB1: A rare cause of rhabdoid tumor predisposition syndrome.

    Blackburn, Patrick R / McGee, Rose B / Mostafavi, Roya / Carroll, Andrew J / Mikhail, Fady M / Armstrong, Gregory T / Furtado, Larissa V / Chiang, Jason / Wheeler, David A / Carey, Steven S / Nichols, Kim E / Upadhyaya, Santhosh A

    Genes, chromosomes & cancer

    2023  Volume 63, Issue 1, Page(s) e23195

    Abstract: Rhabdoid Tumor Predisposition Syndrome 1 (RTPS1) confers an increased risk of developing rhabdoid tumors and is caused by germline mutations in SMARCB1. RTPS1 should be evaluated in all individuals with rhabdoid tumor and is more likely in those with a ... ...

    Abstract Rhabdoid Tumor Predisposition Syndrome 1 (RTPS1) confers an increased risk of developing rhabdoid tumors and is caused by germline mutations in SMARCB1. RTPS1 should be evaluated in all individuals with rhabdoid tumor and is more likely in those with a young age at presentation (occasionally congenital presentation), multiple primary tumors, or a family history of rhabdoid tumor or RTPS1. Proband genetic testing is the standard method for diagnosing RTPS1. Most known RTPS1-related SMARCB1 gene mutations are copy number variants (CNVs) or single nucleotide variants/indels, but structural variant analysis (SVA) is not usually included in the molecular evaluation. Here, we report two children with RTPS1 presenting with atypical teratoid/rhabdoid tumor (ATRT) who had constitutional testing showing balanced chromosome translocations involving SMARCB1. Patient 1 is a 23-year-old female diagnosed with pineal region ATRT at 7 months who was found to have a de novo, constitutional t(16;22)(p13.3;q11.2). Patient 2 is a 24-month-old male diagnosed with a posterior fossa ATRT at 14 months, with subsequent testing showing a constitutional t(5;22)(q14.1;q11.23). These structural rearrangements have not been previously reported in RTPS1. While rare, these cases suggest that structural variants should be considered in the evaluation of children with rhabdoid tumors to provide more accurate genetic counseling on the risks of developing tumors, the need for surveillance, and the risks of passing the disorder on to future children. Further research is needed to understand the prevalence, clinical features, and tumor risks associated with RTPS1-related constitutional balanced translocations.
    MeSH term(s) Child ; Female ; Male ; Humans ; Young Adult ; Adult ; Infant ; Rhabdoid Tumor/genetics ; Rhabdoid Tumor/pathology ; SMARCB1 Protein/genetics ; Chromosome Disorders ; Brain Neoplasms/genetics ; Germ-Line Mutation ; Translocation, Genetic ; Teratoma/genetics ; Teratoma/pathology
    Chemical Substances SMARCB1 Protein ; SMARCB1 protein, human
    Language English
    Publishing date 2023-08-07
    Publishing country United States
    Document type Case Reports ; Journal Article
    ZDB-ID 1018988-9
    ISSN 1098-2264 ; 1045-2257
    ISSN (online) 1098-2264
    ISSN 1045-2257
    DOI 10.1002/gcc.23195
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  6. Article ; Online: Clinical and genomic characterization of an ATRA-insensitive acute promyelocytic leukemia variant with a FNDC3B::RARB fusion.

    Kirkham, Justin K / Liu, Yen-Chun / Foy, Scott G / Ma, Jing / Gheorghe, Gabriela / Furtado, Larissa V / Popescu, Marcela I / Klco, Jeffery M / Karol, Seth E / Blackburn, Patrick R

    Genes, chromosomes & cancer

    2023  Volume 62, Issue 10, Page(s) 617–623

    Abstract: The promyelocytic leukemia-retinoic acid receptor-α (PML::RARA) fusion is the hallmark of acute promyelocytic leukemia (APL) and is observed in over 95% of APL cases. RARA and homologous receptors RARB and RARG are occasionally fused to other gene ... ...

    Abstract The promyelocytic leukemia-retinoic acid receptor-α (PML::RARA) fusion is the hallmark of acute promyelocytic leukemia (APL) and is observed in over 95% of APL cases. RARA and homologous receptors RARB and RARG are occasionally fused to other gene partners, which differentially affect sensitivity to targeted therapies. Most APLs without RARA fusions have rearrangements involving RARG or RARB, both of which frequently show resistance to all-trans-retinoic acid (ATRA) and/or multiagent chemotherapy for acute myeloid leukemia (AML). We present a 13-year-old male diagnosed with variant APL with a novel FNDC3B::RARB in-frame fusion that showed no response to ATRA but responded well to conventional AML therapy. While FNDC3B has been identified as a rare RARA translocation partner in ATRA-sensitive variant APL, it has never been reported as a fusion partner with RARB and it is only the second known fusion partner with RARB in variant APL. We also show that this novel fusion confers an RNA expression signature that is similar to APL, despite clinical resistance to ATRA monotherapy.
    MeSH term(s) Male ; Humans ; Adolescent ; Leukemia, Promyelocytic, Acute/drug therapy ; Leukemia, Promyelocytic, Acute/genetics ; Leukemia, Promyelocytic, Acute/metabolism ; Translocation, Genetic ; Tretinoin/therapeutic use ; Leukemia, Myeloid, Acute/genetics ; Retinoic Acid Receptor alpha/genetics ; Genomics ; Oncogene Proteins, Fusion/genetics ; Fibronectins/genetics
    Chemical Substances Tretinoin (5688UTC01R) ; Retinoic Acid Receptor alpha ; Oncogene Proteins, Fusion ; FNDC3B protein, human ; Fibronectins
    Language English
    Publishing date 2023-06-07
    Publishing country United States
    Document type Case Reports ; Journal Article
    ZDB-ID 1018988-9
    ISSN 1098-2264 ; 1045-2257
    ISSN (online) 1098-2264
    ISSN 1045-2257
    DOI 10.1002/gcc.23180
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  7. Article ; Online: Laparoscopic surgery for adrenocortical carcinoma: Estimating the risk of margin-positive resection.

    Carlisle, Kendyl / Blackburn, Kyle W / Japp, Emily A / McArdle, Patrick F / Turner, Douglas J / Terhune, Julia H / Englum, Brian R / Smith, Philip W / Hu, Yinin

    Journal of surgical oncology

    2023  Volume 129, Issue 4, Page(s) 691–699

    Abstract: ... increased over time at nonacademic centers (R = 0.818, p = 0.007), but not at academic centers (R = 0.009, p ...

    Abstract Background: Over recent years, there has been increasing adoption of minimally invasive surgery (MIS) in the treatment of adrenocortical carcinoma (ACC). However, MIS has been associated with noncurative resection and locoregional recurrence. We aimed to identify risk factors for margin-positivity among patients who undergo MIS resection for ACC. We hypothesized that a simple nomogram can accurately identify patients most suitable for curative MIS resection.
    Methods: Curative-intent resections for ACC were identified through the National Cancer Database spanning 2010-2018. Trends in MIS utilization were reported using Pearson correlation coefficients. Factors associated with margin-positive resection were identified among preoperatively available variables using multivariable logistic regression, then incorporated into a predictive model. Model quality was cross validated using an 80% training data set and 20% test data set.
    Results: Among 1260 ACC cases, 38.6% (486) underwent MIS resection. MIS utilization increased over time at nonacademic centers (R = 0.818, p = 0.007), but not at academic centers (R = 0.009, p = 0.982). Factors associated with margin-positive MIS resection were increasing age, nonacademic center (odds ratio [OR]: 1.8, p = 0.006), cT3 (OR: 4.7, p < 0.001) or cT4 tumors (OR: 14.6, p < 0.001), and right-sided tumors (OR: 2.0, p = 0.006). A predictive model incorporating these four factors produced favorable c-statistics of 0.75 in the training data set and 0.72 in the test data set. A pragmatic nomogram was created to enable bedside risk stratification.
    Conclusions: An increasing proportion of ACC are resected via minimally invasive operations, particularly at nonacademic centers. Patient selection based on a few key factors can minimize the risk of noncurative surgery.
    MeSH term(s) Humans ; Adrenocortical Carcinoma/surgery ; Adrenocortical Carcinoma/pathology ; Laparoscopy ; Nomograms ; Minimally Invasive Surgical Procedures/adverse effects ; Adrenal Cortex Neoplasms/surgery ; Adrenal Cortex Neoplasms/pathology ; Retrospective Studies
    Language English
    Publishing date 2023-11-30
    Publishing country United States
    Document type Journal Article
    ZDB-ID 82063-5
    ISSN 1096-9098 ; 0022-4790
    ISSN (online) 1096-9098
    ISSN 0022-4790
    DOI 10.1002/jso.27544
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  8. Article ; Online: Epidemiologic and Clinical Features of Mpox in Transgender and Gender-Diverse Adults - United States, May-November 2022.

    Blackburn, Dawn / Roth, Nicole M / Gold, Jeremy A W / Pao, Leah Zilversmit / Olansky, Evelyn / Torrone, Elizabeth A / McClung, R Paul / Ellington, Sascha R / Delaney, Kevin P / Carnes, Neal / Dawson, Patrick

    MMWR. Morbidity and mortality weekly report

    2022  Volume 71, Issue 5152, Page(s) 1605–1609

    Abstract: As of November 9, 2022, a total of 28,730 cases of monkeypox (mpox) had been reported in the United States,* primarily among adult cisgender men reporting recent male-to-male sexual contact (1). Transgender and gender-diverse persons, who constitute an ... ...

    Abstract As of November 9, 2022, a total of 28,730 cases of monkeypox (mpox) had been reported in the United States,* primarily among adult cisgender men reporting recent male-to-male sexual contact (1). Transgender and gender-diverse persons, who constitute an estimated 0.5% of the U.S. adult population,
    MeSH term(s) Adult ; Humans ; Male ; Female ; United States/epidemiology ; Transgender Persons ; Mpox (monkeypox) ; Sexual Partners ; Behavioral Risk Factor Surveillance System ; Public Health
    Language English
    Publishing date 2022-12-30
    Publishing country United States
    Document type Journal Article
    ZDB-ID 412775-4
    ISSN 1545-861X ; 0149-2195
    ISSN (online) 1545-861X
    ISSN 0149-2195
    DOI 10.15585/mmwr.mm715152a1
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  9. Article: Holocarboxylase synthetase deficiency pre and post newborn screening.

    Donti, Taraka R / Blackburn, Patrick R / Atwal, Paldeep S

    Molecular genetics and metabolism reports

    2016  Volume 7, Page(s) 40–44

    Abstract: Holocarboxylase synthetase deficiency is an autosomal recessive disorder of biotin metabolism resulting in multiple carboxylase deficiency. The typical presentation described in the medical literature is of neonatal onset within hours to weeks of birth ... ...

    Abstract Holocarboxylase synthetase deficiency is an autosomal recessive disorder of biotin metabolism resulting in multiple carboxylase deficiency. The typical presentation described in the medical literature is of neonatal onset within hours to weeks of birth with emesis, hypotonia, lethargy, seizures, metabolic ketolactic acidosis, hyperammonemia, developmental delay, skin rash and alopecia. The condition is screened for by newborn screening (NBS) tandem mass spectroscopy by elevated hydroxypentanoylcarnitine on dried blood spots. Urine organic acid profile may demonstrate elevated lactic, 3-OH isovaleric, 3-OH propionic, 3-MCC, methylcitric acids, and tiglylglycine consistent with loss of function of the above carboxylases. Here we describe a cohort of patients, 2 diagnosed pre-NBS and 3 post-NBS with broad differences in initial presentation and phenotype. In addition, prior to the advent of NBS, there are isolated reports of late-onset holocarboxylase synthetase deficiency in the medical literature, which describe patients diagnosed between 1 and 8 years of life, however to our knowledge there are no reports of late-onset HCLS being missed by NBS. Also we report two cases, each with novel pathogenic variants HCLS, diagnosed at age 3 years and 21 months respectively. The first patient had a normal newborn screen whilst the second had an abnormal newborn screen but was misdiagnosed as 3-methylcrotonylcarboxylase (3-MCC) deficiency and subsequently lost to follow-up until they presented again with severe metabolic acidosis.
    Language English
    Publishing date 2016-04-06
    Publishing country United States
    Document type Journal Article
    ZDB-ID 2821908-9
    ISSN 2214-4269
    ISSN 2214-4269
    DOI 10.1016/j.ymgmr.2016.03.007
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  10. Article ; Online: A Novel USP25::PDGFRA Gene Fusion in a 78 Year Old Patient with a Myeloid Neoplasm.

    Dalland, Joanna C / Blackburn, Patrick R / Reichard, Kaaren K / Johnson, Sarah H / Smadbeck, James B / Vasmatzis, George / Hoppman, Nicole L / Xu, Xinjie / Greipp, Patricia T / Baughn, Linda B / Peterson, Jess F

    Laboratory medicine

    2022  Volume 53, Issue 5, Page(s) e134–e138

    Abstract: The World Health Organization category of myeloid/lymphoid neoplasms with eosinophilia and PDGFRA rearrangements is composed of a heterogeneous group of neoplasms that can present as a myeloproliferative neoplasm, acute myeloid leukemia, myeloid sarcoma, ...

    Abstract The World Health Organization category of myeloid/lymphoid neoplasms with eosinophilia and PDGFRA rearrangements is composed of a heterogeneous group of neoplasms that can present as a myeloproliferative neoplasm, acute myeloid leukemia, myeloid sarcoma, or lymphoblastic leukemia/lymphoma. The overall outcome of these neoplasms is favorable with imatinib therapy. Herein, we describe an adult female patient with a myeloid neoplasm accompanied by eosinophilia and a novel USP25::PDGFRA gene fusion.
    MeSH term(s) Adult ; Aged ; Eosinophilia ; Female ; Gene Fusion ; Humans ; Myeloproliferative Disorders/complications ; Myeloproliferative Disorders/diagnosis ; Myeloproliferative Disorders/genetics ; Neoplasms/complications ; Oncogene Proteins, Fusion/genetics ; Receptor, Platelet-Derived Growth Factor alpha/genetics ; Ubiquitin Thiolesterase/genetics
    Chemical Substances Oncogene Proteins, Fusion ; USP25 protein, human ; Receptor, Platelet-Derived Growth Factor alpha (EC 2.7.10.1) ; Ubiquitin Thiolesterase (EC 3.4.19.12)
    Language English
    Publishing date 2022-02-25
    Publishing country England
    Document type Case Reports ; Journal Article
    ZDB-ID 391758-7
    ISSN 1943-7730 ; 0007-5027
    ISSN (online) 1943-7730
    ISSN 0007-5027
    DOI 10.1093/labmed/lmac010
    Database MEDical Literature Analysis and Retrieval System OnLINE

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