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  1. Article ; Online: Erdheim-Chester Disease with BRAF V600E Mutation and a Concomitant Myeloid Malignancy Sharing NRAS and IDH2 Mutations.

    Prabhakaran, Nitya / Jour, George / Balar, Arjun / Ward, Nicholas

    Acta haematologica

    2023  Volume 146, Issue 3, Page(s) 245–251

    Abstract: Erdheim-Chester disease (ECD) is a rare clonal histiocytic process that is characterized by a foamy (xanthomatous) proliferation often associated with Touton giant cells. The diagnosis is often challenging and not exclusively a histologic diagnosis, as ... ...

    Abstract Erdheim-Chester disease (ECD) is a rare clonal histiocytic process that is characterized by a foamy (xanthomatous) proliferation often associated with Touton giant cells. The diagnosis is often challenging and not exclusively a histologic diagnosis, as it requires correlation with unique clinical, radiographic, and recently described molecular findings. Activating mutations involving the MAPK pathway including BRAF, ARAF, N/KRAS, and MEK are recurrent in the disease. However, it is increasingly being described that mutations associated with clonal hematopoiesis are also found in bone marrow specimens of patients with ECD, as well as higher frequency of overt concomitant myeloid malignancy including acute myeloid leukemia, myeloproliferative neoplasms, myelodysplastic syndromes, and mixed myeloproliferative neoplasms/myelodysplastic syndromes. Herein, we report a unique case of a patient presenting with BRAFV600E-positive ECD with peripheral blood findings consistent with a concurrent myeloid malignancy featuring co-occurrence of NRAS and IDH2 mutations.
    MeSH term(s) Humans ; Erdheim-Chester Disease/diagnosis ; Erdheim-Chester Disease/genetics ; Erdheim-Chester Disease/complications ; Proto-Oncogene Proteins B-raf/genetics ; Mutation ; Myeloproliferative Disorders/diagnosis ; Myeloproliferative Disorders/genetics ; Myeloproliferative Disorders/complications ; Neoplasms/complications ; Myelodysplastic Syndromes/complications ; Membrane Proteins/genetics ; GTP Phosphohydrolases/genetics
    Chemical Substances Proto-Oncogene Proteins B-raf (EC 2.7.11.1) ; BRAF protein, human (EC 2.7.11.1) ; NRAS protein, human (EC 3.6.1.-) ; Membrane Proteins ; GTP Phosphohydrolases (EC 3.6.1.-)
    Language English
    Publishing date 2023-02-08
    Publishing country Switzerland
    Document type Case Reports
    ZDB-ID 80008-9
    ISSN 1421-9662 ; 0001-5792
    ISSN (online) 1421-9662
    ISSN 0001-5792
    DOI 10.1159/000528550
    Database MEDical Literature Analysis and Retrieval System OnLINE

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    In stock of ZB MED Cologne/Königswinter

    Ud II Zs.145: Show issues Location:
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    bis Jg. 2021: Bestellungen von Artikeln über das Online-Bestellformular
    ab Jg. 2022: Lesesaal (EG)

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  2. Article: Intravascular Large B Cell Lymphoma of the Breast: A Rare Entity.

    Prabhakaran, Nitya / Sheikh, Hassan / Zhang, Xinmin / Sheikh-Fayyaz, Silvat

    Breast cancer : basic and clinical research

    2021  Volume 15, Page(s) 11782234211050728

    Abstract: Intravascular large B-cell lymphoma (IVLBCL) is a rare and high-grade disease of neoplastic lymphoid cells within the vascular lumina of small- to medium-sized vessels. The disease carries a grim prognosis despite robust treatment protocols. We discuss ... ...

    Abstract Intravascular large B-cell lymphoma (IVLBCL) is a rare and high-grade disease of neoplastic lymphoid cells within the vascular lumina of small- to medium-sized vessels. The disease carries a grim prognosis despite robust treatment protocols. We discuss the case of a 58-year-old female who presented with mammographic screening abnormality which led to more investigations and ultimately to this diagnosis. The patient had no prior history of a lymphoma or in situ and invasive carcinoma of the breast. To our knowledge, IVLBCL of the breast is a very rare and an unusual location for this type of a lymphoma and so far, only five reported cases. Through our case report, we not only discuss the case but also review literature on this rare entity.
    Language English
    Publishing date 2021-10-30
    Publishing country United States
    Document type Case Reports
    ZDB-ID 2423804-1
    ISSN 1178-2234
    ISSN 1178-2234
    DOI 10.1177/11782234211050728
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  3. Article ; Online: The utility of thromboelastography and tranexamic acid in plasminogen activator inhibitor deficiency during pregnancy: a rare case report.

    Prabhakaran, Nitya / Laziuk, Katsiaryna / Hammer, Richard D

    Blood coagulation & fibrinolysis : an international journal in haemostasis and thrombosis

    2019  Volume 31, Issue 1, Page(s) 87–91

    Abstract: Complete plasminogen activator inhibitor-1 (PAI-1) deficiency is a very rare genetic disorder that is associated with an increased risk of bleeding diathesis. Patients with PAI-1 deficiency are also known to be at increased risk for massive postpartum ... ...

    Abstract : Complete plasminogen activator inhibitor-1 (PAI-1) deficiency is a very rare genetic disorder that is associated with an increased risk of bleeding diathesis. Patients with PAI-1 deficiency are also known to be at increased risk for massive postpartum hemorrhage. We discuss one such rare case of PAI-1 deficiency in a young pregnant patient at 22 weeks of gestation with history of prolonged bleeding. Tranexamic acid was administered for menorrhagia and resumed later for labor and continued into the postpartum period since antifibrinolytics have been the mainstay in the management of PAI-1 deficiency. The patient delivered a healthy infant at 39 weeks. As PAI-1 deficiency causes increased fibrinolysis, the patient's coagulation panel was monitored by performing serial thromboelastograms to monitor for any increase in fibrinolysis. We believe that thromboelastograms might be a useful tool in the monitoring and management of fibrinolytic conditions such as PAI-1 deficiency.
    MeSH term(s) Adult ; Female ; Hemorrhagic Disorders/diet therapy ; Humans ; Plasminogen Activator Inhibitor 1/deficiency ; Pregnancy ; Thrombelastography/methods ; Tranexamic Acid/pharmacology ; Tranexamic Acid/therapeutic use
    Chemical Substances Plasminogen Activator Inhibitor 1 ; Tranexamic Acid (6T84R30KC1)
    Language English
    Publishing date 2019-12-04
    Publishing country England
    Document type Case Reports ; Journal Article
    ZDB-ID 1033551-1
    ISSN 1473-5733 ; 0957-5235
    ISSN (online) 1473-5733
    ISSN 0957-5235
    DOI 10.1097/MBC.0000000000000869
    Database MEDical Literature Analysis and Retrieval System OnLINE

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    In stock of ZB MED Cologne/Königswinter

    Zs.A 2920: 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)

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  4. Article: Extraneural Metastasis of Primary Glioma Occurring in a Setting of Occupational Ionizing Radiation Exposure.

    Prabhakaran, Nitya / Miller, Douglas C / Litofsky, N Scott / Frazier, Shellaine R

    Case reports in neurological medicine

    2019  Volume 2019, Page(s) 1748739

    Abstract: Malignant gliomas account for 60% of all primary brain tumors in adults. Glioblastoma Multiforme (GBM) is the most common primary glial tumor with a dismal prognosis and a median survival of approximately 14 months. Extra-neural metastases from primary ... ...

    Abstract Malignant gliomas account for 60% of all primary brain tumors in adults. Glioblastoma Multiforme (GBM) is the most common primary glial tumor with a dismal prognosis and a median survival of approximately 14 months. Extra-neural metastases from primary brain tumors are unusual with an incidence rate of less than 2%. This has been attributed to factors such as short survival, lack of true lymphatics in the CNS, and physical barriers provided by the dura, extracellular matrix, and basement membrane. Although most GBMs occur sporadically, there is a known association with therapeutic radiation exposure and with work in nuclear disaster cleanup. To our knowledge, no case of GBM with metastasis occurring in a patient with occupational radiation exposure currently exists in the literature. In this article, we present a case of GBM with lung metastasis occurring in a 51-year-old Caucasian male, whose history is significant for occupational exposure to ionizing radiation, and review the literature on GBM risk factors and potential mechanisms of metastasis.
    Language English
    Publishing date 2019-06-13
    Publishing country United States
    Document type Case Reports
    ZDB-ID 2629909-4
    ISSN 2090-6676 ; 2090-6668
    ISSN (online) 2090-6676
    ISSN 2090-6668
    DOI 10.1155/2019/1748739
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  5. Article ; Online: Novel TLE4-NTRK2 fusion in a ganglioglioma identified by array-CGH and confirmed by NGS: Potential for a gene targeted therapy.

    Prabhakaran, Nitya / Guzman, Miguel A / Navalkele, Pournima / Chow-Maneval, Edna / Batanian, Jacqueline R

    Neuropathology : official journal of the Japanese Society of Neuropathology

    2018  

    Abstract: Gangliogliomas are rare neoplasms of the central nervous system that mostly originate in the temporal lobe and are associated with seizures. Literature mentions that BRAF mutations are most commonly associated with gangliogliomas. We discuss a unique ... ...

    Abstract Gangliogliomas are rare neoplasms of the central nervous system that mostly originate in the temporal lobe and are associated with seizures. Literature mentions that BRAF mutations are most commonly associated with gangliogliomas. We discuss a unique case of ganglioglioma originating in the posterior fossa that showed multiple losses and a unique interstitial deletion at 9q21 by an array-comparative genome hybridization (array-CGH). The deletion led to a novel molecular fusion (TLE4-NTRK2) which was confirmed by next generation sequencing and provides a potential for a gene-targeted therapy.
    Language English
    Publishing date 2018-03-04
    Publishing country Australia
    Document type Case Reports
    ZDB-ID 1483794-8
    ISSN 1440-1789 ; 0919-6544
    ISSN (online) 1440-1789
    ISSN 0919-6544
    DOI 10.1111/neup.12458
    Database MEDical Literature Analysis and Retrieval System OnLINE

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    In stock of ZB MED Cologne/Königswinter

    Zs.A 5086: 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)

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  6. Article ; Online: Cell block cellularity: A comparison of two fixatives and their impact on cellularity.

    Layfield, Lester J / Esebua, Magda / Ang, Jonathan / Alnijoumi, Mohammed M / Sohal, Harijyot S / Hammer, Richard D / Prabhakaran, Nitya / Schmidt, Robert L

    Diagnostic cytopathology

    2018  Volume 47, Issue 5, Page(s) 417–420

    Abstract: Background: Ancillary testing including immunohistochemistry and molecular diagnostics has become an increasingly important component for the evaluation of cytologic specimens. Ancillary testing is important not only for diagnosis but also for ... ...

    Abstract Background: Ancillary testing including immunohistochemistry and molecular diagnostics has become an increasingly important component for the evaluation of cytologic specimens. Ancillary testing is important not only for diagnosis but also for predictive and prognostic evaluation. While a number of substrates are appropriate for ancillary testing, cell block specimens are commonly utilized and the success of ancillary testing depends on cell-block cellularity.
    Methods: Forty-six pairs of cases each fixed in both formalin and CytoLyt were each analyzed by two evaluators for overall cellularity. Linear regression was used to assess inter-rater reliability of cell counts for each method. Cellularity scores for each case were obtained by averaging the scores for each rater and cellularity was compared between the methods.
    Results: Inter-rater agreement was very good for both methods. The coefficient of determination was 1.0 and 0.99 for the CytoLyt and formalin methods respectively. Cell blocks using the CytoLyt method have lower levels of cellularity than cell blocks performed by the formalin method.
    Conclusions: Cell blocks prepared using a formalin fixative yield significantly greater cellularity than those produced by the CytoLyt method. Formalin fixation appears to optimize cellularity of cell blocks useful for ancillary testing.
    MeSH term(s) Biopsy/methods ; Biopsy/standards ; Fixatives/adverse effects ; Fixatives/standards ; Formaldehyde/adverse effects ; Formaldehyde/standards ; Humans ; Neoplasms/pathology ; Tissue Fixation/methods ; Tissue Fixation/standards
    Chemical Substances Fixatives ; Formaldehyde (1HG84L3525)
    Language English
    Publishing date 2018-11-23
    Publishing country United States
    Document type Comparative Study ; Journal Article
    ZDB-ID 632710-2
    ISSN 1097-0339 ; 8755-1039
    ISSN (online) 1097-0339
    ISSN 8755-1039
    DOI 10.1002/dc.24118
    Database MEDical Literature Analysis and Retrieval System OnLINE

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    In stock of ZB MED Cologne/Königswinter

    Zs.A 2117: Show issues Location:
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