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  1. Article ; Online: Cranial Fasciitis in Children: Expanding the Spectrum of

    Malik, Faizan / Bernieh, Anas / El Jamal, Siraj M / Saad, Ali G

    Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society

    2022  Volume 25, Issue 3, Page(s) 304–315

    Abstract: Background: ...

    Abstract Background:
    MeSH term(s) Child ; Fasciitis/genetics ; Fasciitis/pathology ; Gene Rearrangement ; Humans ; Muscular Diseases/genetics ; Neoplasms/genetics ; Retrospective Studies ; Ubiquitin Thiolesterase/genetics
    Chemical Substances USP6 protein, human (EC 3.4.19.12) ; Ubiquitin Thiolesterase (EC 3.4.19.12)
    Language English
    Publishing date 2022-01-04
    Publishing country United States
    Document type Journal Article
    ZDB-ID 1463498-3
    ISSN 1615-5742 ; 1093-5266
    ISSN (online) 1615-5742
    ISSN 1093-5266
    DOI 10.1177/10935266211063989
    Database MEDical Literature Analysis and Retrieval System OnLINE

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    Zs.A 5063: Show issues Location:
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  2. Article ; Online: Myelodysplastic syndrome/myeloproliferative neoplasm with ring sideroblasts and thrombocytosis: Ringing in a new future.

    Nathan, Daniel I / Feld, Jonathan / El Jamal, Siraj M / Mascarenhas, John / Tremblay, Douglas

    Leukemia research

    2022  Volume 115, Page(s) 106820

    Abstract: Myelodysplastic syndrome/myeloproliferative neoplasm with ring sideroblasts and thrombocytosis (MDS/MPN-RS-T) is a rare hematologic malignancy belonging to the category of myelodysplastic syndrome (MDS)/myeloproliferative neoplasm (MPN) overlap syndromes. ...

    Abstract Myelodysplastic syndrome/myeloproliferative neoplasm with ring sideroblasts and thrombocytosis (MDS/MPN-RS-T) is a rare hematologic malignancy belonging to the category of myelodysplastic syndrome (MDS)/myeloproliferative neoplasm (MPN) overlap syndromes. While certain clinical features, including anemia and thrombocytosis, are common to both the MDS and MPN disease components, the biologic consequences of the spliceosome mutation SF3B1 results in notable clinical exceptions. Importantly, both overall and leukemia free survival are shorter for MDS/MPN-RS-T when compared to essential thrombocythemia (ET). In the case of MDS/MPN-RS-T, thrombotic risk is not associated with the presence of JAK2V617F, nor history of prior thrombosis, but is associated with the presence of the mutated spliceosome gene SF3B1. In this review, we highlight the biology, pathology, risk stratification, and treatment approach to MDS/MPN-RS-T. In particular, we focus on clinical management concepts, which are largely borrowed from MDS and MPN, including the use of cytoreduction, bone marrow stimulating agents, and the role of allogeneic stem cell transplantation. We end by highlighting unmet needs and future research priorities in MDS/MPN-RS-T.
    MeSH term(s) Anemia, Sideroblastic/genetics ; Anemia, Sideroblastic/pathology ; Anemia, Sideroblastic/therapy ; Hematologic Neoplasms/complications ; Humans ; Mutation ; Myelodysplastic-Myeloproliferative Diseases/complications ; Myelodysplastic-Myeloproliferative Diseases/genetics ; Myelodysplastic-Myeloproliferative Diseases/therapy ; Myeloproliferative Disorders/complications ; RNA Splicing Factors/genetics ; Syndrome ; Thrombocytosis/genetics ; Thrombocytosis/therapy
    Chemical Substances RNA Splicing Factors
    Language English
    Publishing date 2022-03-07
    Publishing country England
    Document type Journal Article ; Research Support, Non-U.S. Gov't ; Review
    ZDB-ID 752396-8
    ISSN 1873-5835 ; 0145-2126
    ISSN (online) 1873-5835
    ISSN 0145-2126
    DOI 10.1016/j.leukres.2022.106820
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    Zs.A 1321: Show issues Location:
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  3. Article ; Online: Unexpected pancytopenia: Dasatinib induced aplastic anemia in chronic myeloid leukemia.

    Feld, Jonathan / Steinberg, Amir / El Jamal, Siraj M / Shapira, Ilan

    Journal of oncology pharmacy practice : official publication of the International Society of Oncology Pharmacy Practitioners

    2021  Volume 28, Issue 1, Page(s) 232–236

    Abstract: Introduction: The use of TKIs in CML has dramatically altered the natural course of the disease and improved outcomes for patients. TKIs overall have a very favorable safety profile. Dasatinib, a second generation TKI, is commonly used as a first-line ... ...

    Abstract Introduction: The use of TKIs in CML has dramatically altered the natural course of the disease and improved outcomes for patients. TKIs overall have a very favorable safety profile. Dasatinib, a second generation TKI, is commonly used as a first-line treatment option in CML.
    Case report: We describe the first two reported cases of first-line dasatinib induced aplastic anemia in CML. In both patients, pancytopenia occurred within one year of diagnosis/starting dasatinib. Both bone marrow biopsies showed hypocellularity with mild fibrosis and persistent BCR-Abl1 positivity.
    Management & outcome: Dose reduction was attempted without success in both patients. In one patient, multiple TKIs were trialed, while in the other, growth factor support was attempted; neither regimen was effective. Ultimately, the cytopenias associated with dasatinib were only resolved after immunosuppression in one patient and allogeneic stem cell transplant in the other patient.
    Discussion: Prior reports have shown that aplasia/aplastic anemia can rarely be associated with imatinib and nilotinib. Here we show that dasatinib can lead to this phenomenon as well. This diagnosis should be considered in patients with CML who unexpectedly develop cytopenias.
    MeSH term(s) Anemia, Aplastic/chemically induced ; Dasatinib/adverse effects ; Humans ; Leukemia, Myelogenous, Chronic, BCR-ABL Positive/drug therapy ; Pancytopenia/chemically induced ; Protein Kinase Inhibitors/adverse effects
    Chemical Substances Protein Kinase Inhibitors ; Dasatinib (RBZ1571X5H)
    Language English
    Publishing date 2021-06-21
    Publishing country England
    Document type Case Reports ; Journal Article
    ZDB-ID 1330764-2
    ISSN 1477-092X ; 1078-1552
    ISSN (online) 1477-092X
    ISSN 1078-1552
    DOI 10.1177/10781552211026375
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    Zs.A 4488: Show issues Location:
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  4. Article ; Online: Contemporary Risk Stratification and Treatment of Chronic Myelomonocytic Leukemia.

    Tremblay, Douglas / Rippel, Noa / Feld, Jonathan / El Jamal, Siraj M / Mascarenhas, John

    The oncologist

    2021  Volume 26, Issue 5, Page(s) 406–421

    Abstract: Chronic myelomonocytic leukemia (CMML) is a hematologic malignancy characterized by absolute monocytosis, one or more lineage dysplasia, and proliferative features including myeloid hyperplasia, splenomegaly, and constitutional symptoms. Because of vast ... ...

    Abstract Chronic myelomonocytic leukemia (CMML) is a hematologic malignancy characterized by absolute monocytosis, one or more lineage dysplasia, and proliferative features including myeloid hyperplasia, splenomegaly, and constitutional symptoms. Because of vast clinical heterogeneity in presentation and course, risk stratification is used for a risk-adapted treatment strategy. Numerous prognostic scoring systems exist, some of which incorporate mutational information. Treatment ranges from observation to allogeneic hematopoietic stem cell transplantation. Therapies include hydroxyurea for cytoreduction, hypomethylating agents, and the JAK1/2 inhibitor ruxolitinib to address splenomegaly and constitutional symptoms. Recently, oral decitabine with cedazuridine was approved and represents a convenient treatment option for CMML patients. Although novel therapeutics are in development for CMML, further work is needed to elucidate possible targets unique to the CMML clone. In this review, we will detail the pathophysiology, risk stratification, available treatment modalities, and novel therapies for CMML, and propose a modern treatment algorithm. IMPLICATIONS FOR PRACTICE: Chronic myelomonocytic leukemia (CMML) is a clinically heterogenous disease, which poses significant management challenges. The diagnosis of CMML requires bone marrow biopsy and aspirate with thorough evaluation. Risk stratification and symptom assessment are essential to designing an effective treatment plan, which may include hypomethylating agents (HMAs) in intermediate or high-risk patients. The recently approved oral decitabine/cedazuridine provides a convenient alternative to parenteral HMAs. Ruxolitinib may be effective in ameliorating proliferative symptoms and splenomegaly. Allogeneic stem cell transplantation remains the only treatment with curative potential; however, novel therapies are in clinical development which may significantly alter the therapeutic landscape of CMML.
    MeSH term(s) Hematopoietic Stem Cell Transplantation ; Humans ; Hydroxyurea ; Leukemia, Myelomonocytic, Chronic/diagnosis ; Leukemia, Myelomonocytic, Chronic/drug therapy ; Mutation ; Risk Assessment
    Chemical Substances Hydroxyurea (X6Q56QN5QC)
    Language English
    Publishing date 2021-04-21
    Publishing country England
    Document type Journal Article ; Review
    ZDB-ID 1409038-7
    ISSN 1549-490X ; 1083-7159
    ISSN (online) 1549-490X
    ISSN 1083-7159
    DOI 10.1002/onco.13769
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    Zs.A 4845: Show issues Location:
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    Zs.MO 494: Show issues

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  5. Article: Distinguishing autoimmune myelofibrosis from primary myelofibrosis.

    Marcellino, Bridget / El Jamal, Siraj M / Mascarenhas, John O

    Clinical advances in hematology & oncology : H&O

    2018  Volume 16, Issue 9, Page(s) 619–626

    Abstract: Bone marrow fibrosis (BMF) is a histologic finding in a wide range of diseases, including malignancies, endocrine disorders, autoimmune diseases, and infections. Autoimmune myelofibrosis (AIMF) is an uncommon etiology of BMF; it can be secondary to a ... ...

    Abstract Bone marrow fibrosis (BMF) is a histologic finding in a wide range of diseases, including malignancies, endocrine disorders, autoimmune diseases, and infections. Autoimmune myelofibrosis (AIMF) is an uncommon etiology of BMF; it can be secondary to a defined autoimmune disease, or it can be primary in the absence of a clinically diagnosed autoimmune disease but the presence of serologic evidence of autoantibodies. Distinguishing between primary myelofibrosis (PMF) and non-neoplastic AIMF is of the utmost importance because the prognosis and therapeutic options are different. This distinction, however, can be complicated by overlapping findings in the 2 disease entities. Here, using the case of a patient with BMF in the setting of idiopathic thrombocytopenic purpura and autoimmune hemolytic anemia, we present a systematic approach to distinguishing between PMF and AIMF.
    MeSH term(s) Autoimmune Diseases/classification ; Autoimmune Diseases/diagnosis ; Autoimmune Diseases/therapy ; Female ; Humans ; Male ; Primary Myelofibrosis/classification ; Primary Myelofibrosis/diagnosis ; Primary Myelofibrosis/therapy
    Language English
    Publishing date 2018-09-26
    Publishing country United States
    Document type Journal Article ; Review
    ZDB-ID 2271951-9
    ISSN 1543-0790
    ISSN 1543-0790
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    Zs.A 6505: Show issues Location:
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  6. Article ; Online: Acquired amegakaryocytic thrombocytopenia as a rare cause of thrombocytopenia during pregnancy.

    Zimmerman, Brittney S / Marcellino, Bridget / El Jamal, Siraj M / Renteria, Anne S

    BMJ case reports

    2019  Volume 12, Issue 6

    Abstract: A rare case of acquired amegakaryocytic thrombocytopenia (AATP) in a 35-year-old woman who presented with anaemia and thrombocytopenia at 22 weeks gestation. The first diagnostic impression was of an evolving aplastic anaemia; however, the patient was ... ...

    Abstract A rare case of acquired amegakaryocytic thrombocytopenia (AATP) in a 35-year-old woman who presented with anaemia and thrombocytopenia at 22 weeks gestation. The first diagnostic impression was of an evolving aplastic anaemia; however, the patient was simultaneously diagnosed with severe vitamin B
    MeSH term(s) Adult ; Bone Marrow Diseases/complications ; Bone Marrow Diseases/physiopathology ; Bone Marrow Diseases/therapy ; Cesarean Section ; Female ; Humans ; Platelet Count ; Pregnancy ; Pregnancy Complications, Hematologic/physiopathology ; Pregnancy Complications, Hematologic/therapy ; Purpura, Thrombocytopenic/complications ; Purpura, Thrombocytopenic/physiopathology ; Purpura, Thrombocytopenic/therapy ; Receptors, Fc/therapeutic use ; Recombinant Fusion Proteins/therapeutic use ; Thrombocytopenia/etiology ; Thrombocytopenia/physiopathology ; Thrombocytopenia/therapy ; Thrombopoietin/therapeutic use ; Treatment Outcome
    Chemical Substances Receptors, Fc ; Recombinant Fusion Proteins ; Thrombopoietin (9014-42-0) ; romiplostim (GN5XU2DXKV)
    Language English
    Publishing date 2019-06-21
    Publishing country England
    Document type Case Reports ; Journal Article
    ISSN 1757-790X
    ISSN (online) 1757-790X
    DOI 10.1136/bcr-2019-230361
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  7. Article ; Online: Blastic Plasmacytoid Dendritic Cell Neoplasm-Current Insights.

    Venugopal, Sangeetha / Zhou, Selena / El Jamal, Siraj M / Lane, Andrew A / Mascarenhas, John

    Clinical lymphoma, myeloma & leukemia

    2019  Volume 19, Issue 9, Page(s) 545–554

    Abstract: Blastic plasmacytoid dendritic cell neoplasm (BPDCN) is a rare clonal hematologic malignancy of plasmacytoid dendritic cell precursors. The presentation and clinical course of BPDCN is widely heterogeneous and was most recently categorized as a distinct ... ...

    Abstract Blastic plasmacytoid dendritic cell neoplasm (BPDCN) is a rare clonal hematologic malignancy of plasmacytoid dendritic cell precursors. The presentation and clinical course of BPDCN is widely heterogeneous and was most recently categorized as a distinct clinical entity by the World Health Organization in 2016. The expanded understanding of the pathobiology of BPDCN has improved diagnostic accuracy and informed novel targeted therapeutic options. The United States Food and Drug Administration-approval of tagraxofusp (SL-401) in December 2018 has focused attention on this leukemia frequently associated with skin involvement. Herein, we aim to: (1) review etiology; (2) summarize diagnostic criteria; and (3) discuss historic treatments and novel therapies for BPDCN.
    MeSH term(s) Animals ; Biopsy ; Clonal Evolution/genetics ; Combined Modality Therapy ; Dendritic Cells/metabolism ; Dendritic Cells/pathology ; Disease Management ; Disease Susceptibility ; Genetic Predisposition to Disease ; Hematologic Neoplasms/diagnosis ; Hematologic Neoplasms/epidemiology ; Hematologic Neoplasms/etiology ; Hematologic Neoplasms/therapy ; Humans ; Immunophenotyping ; Incidence ; Prognosis ; Skin Neoplasms/diagnosis ; Skin Neoplasms/etiology ; Treatment Outcome
    Language English
    Publishing date 2019-06-13
    Publishing country United States
    Document type Journal Article ; Review
    ZDB-ID 2540992-X
    ISSN 2152-2669 ; 2152-2650
    ISSN (online) 2152-2669
    ISSN 2152-2650
    DOI 10.1016/j.clml.2019.06.002
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    Zs.A 5903: Show issues Location:
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  8. Article: Nodular hidradenoma of left toe.

    Nguyen, Jonathan T / Brooks, Ronald M / El Jamal, Siraj M / Wilhelmi, Bradon J

    Eplasty

    2015  Volume 15, Page(s) ic6

    Language English
    Publishing date 2015-01-22
    Publishing country United States
    Document type Case Reports
    ZDB-ID 2412803-X
    ISSN 1937-5719
    ISSN 1937-5719
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  9. Article: Activation of cytotoxic T cell population and inversion of CD4:CD8 ratio as manifestations of cellular immune response in SARS-COV-2 infection.

    Khan, Fahad / van den Akker, Tayler / Hussein, Shafinaz / Marcellino, Bridget K / Khattar, Pallavi / Glicksberg, Benjamin S / Nadkarni, Girish N / Firpo-Betancourt, Adolfo / El Jamal, Siraj M

    Journal of hematopathology

    2020  Volume 13, Issue 3, Page(s) 197–199

    Keywords covid19
    Language English
    Publishing date 2020-07-02
    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/s12308-020-00405-9
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  10. Article ; Online: Atypical lymphocyte morphology in SARS-CoV-2 infection.

    El Jamal, Siraj M / Salib, Christian / Stock, Aryeh / Uriarte-Haparnas, Norlita I / Glicksberg, Benjamin S / Teruya-Feldstein, Julie / Dembitzer, Francine R / Nadkarni, Girish N / Firpo-Betancourt, Adolfo

    Pathology, research and practice

    2020  Volume 216, Issue 9, Page(s) 153063

    MeSH term(s) Betacoronavirus/pathogenicity ; COVID-19 ; Coronavirus Infections/diagnosis ; Coronavirus Infections/pathology ; Coronavirus Infections/virology ; Humans ; Lymphocytes/cytology ; Pandemics ; Pneumonia, Viral/diagnosis ; Pneumonia, Viral/pathology ; Pneumonia, Viral/virology ; SARS-CoV-2 ; Severe Acute Respiratory Syndrome/diagnosis ; Severe Acute Respiratory Syndrome/virology
    Keywords covid19
    Language English
    Publishing date 2020-06-10
    Publishing country Germany
    Document type Letter
    ZDB-ID 391889-0
    ISSN 1618-0631 ; 0344-0338
    ISSN (online) 1618-0631
    ISSN 0344-0338
    DOI 10.1016/j.prp.2020.153063
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