A Rare Case of Blastic Plasmacytoid Dendritic Cell Neoplasm Occurred in Postchemotherapy of Breast CancerRead the full article
Case Reports in Hematology publishes case reports and case series in all areas of hematology, including general hematology, pathology, and oncology, with a specific focus on lymphomas and leukemias.
Case Reports in Hematology maintains an Editorial Board of practicing researchers from around the world, to ensure manuscripts are handled by editors who are experts in the field of study.
Abstracting and Indexing
Latest ArticlesMore articles
Fat Embolization Syndrome Secondary to Steroid Treatment in a Case of Sickle Cell Vaso-Occlusive Crisis
Fat embolization syndrome (FES) is often seen as a complication of fractures and has been known to cause respiratory failure, rashes of the skin, thrombocytopenia, and neurological damage. Nontraumatic FES is uncommon and occurs due to bone marrow necrosis. Vaso-occlusive crisis in sickle cell patients secondary to steroid therapy is a rare entity and not widely acknowledged. We report a case of FES secondary to steroid therapy administered for a patient with intractable migraine. FES is an uncommon yet serious complication that occurs due to bone marrow necrosis and is usually associated with increased mortality or damaging neurologic sequelae for the surviving patient. Our patient was initially admitted for intractable migraine and worked up to rule out any acute emergency conditions. She was then given steroids for her migraine which did not subside with the initial treatment. Her condition worsened, and she developed respiratory failure along with altered mental status requiring care in the intensive care unit (ICU). Imaging studies showed microhemorrhages throughout the cerebral hemispheres, brainstem, and cerebellum. The imaging of her lungs confirmed severe acute chest syndrome. The patient also had hepatocellular and renal injuries indicative of multiorgan failure. The patient was treated with a red cell exchange transfusion (RBCx) leading to an almost complete recovery in a few days. The patient, however, had residual neurological sequelae with the presence of numb chin syndrome (NCS). This report thus highlights the need to recognize potential multiorgan failure secondary to steroid treatment and the importance of initiating treatment with red cell exchange transfusions to decrease the risk of such complications secondary to steroids.
Detection of an MN1::ETV6 Gene Fusion in a Case of Acute Myeloid Leukemia with Erythroid Differentiation: A Case Report and Review of the Literature
The MN1::ETV6 gene fusion resulting from t(12;22)(p13;q12) has been rarely reported in myeloid neoplasms. We describe a 69-year-old male with newly diagnosed acute myeloid leukemia (AML) with erythroid differentiation and t(12;22)(p13;q12) demonstrated by conventional chromosome studies. Subsequent fluorescence in situ hybridization studies demonstrated a balanced ETV6 gene rearrangement (at 12p13). To further characterize this translocation, whole-genome sequencing was performed which confirmed t(12;22) with breakpoints involving the MN1 and ETV6 genes. Herein, we describe our case and review the literature to summarize the clinical and laboratory findings in patients with this rare but recurrent MN1::ETV6 gene fusion observed in myeloid neoplasms. Importantly, this case expands the clinical spectrum associated with the MN1::ETV6 gene fusion to include AML with erythroid differentiation. Lastly, this case demonstrates the importance of moving toward more comprehensive molecular testing to fully characterize the driver events in neoplastic genomes.
Friend or Foe: Factor XII Deficiency Discovered Incidentally during Management of NSTEMI
Factor XII (FXII) deficiency is a rare coagulopathy that typically goes undiagnosed due to the lack of abnormal bleeding or thrombosis. However, the accompanying prolonged activated partial thromboplastin time (aPTT) can create difficulties with maintaining therapeutic anticoagulation in the setting of acute coronary syndrome (ACS). Here, we present the case of a 52-year-old man presenting with chest pain and diagnosed with an NSTEMI but also found with a prolonged baseline aPTT ultimately secondary to FXII deficiency. Here, we discuss the diagnostic work-up of an isolated prolonged aPTT to identify possible etiologies, such as FXII deficiency, and ultimately inform ACS management.
IgE Plasma Cell Leukemia Harboring t(11;14) and 1q Amplification
IgE plasma cell neoplasm is the rarest subtype of plasma cell neoplasms and is known for its poor prognosis and high incidence of t(11;14). However, t(11;14) has been classified as a standard-risk rather than high-risk cytogenetic abnormality in multiple myeloma. We have been unable to explain the discrepancy that the hallmark of IgE plasma cell neoplasm with a poor prognosis is a standard-risk cytogenetic abnormality. Here, we report a case of IgE primary plasma cell leukemia with extramedullary lesions of the liver, stomach, and lymph nodes. Plasma cell infiltration was pathologically confirmed in each organ. Cytogenetic analysis of plasma cells revealed t(11;14) and amplification of 1q21. Chemotherapy, with immunomodulatory imide drugs, proteasome inhibitors, and CD38 antibodies, was unsuccessful. In IgE plasma cell neoplasm, coexistence of other cytogenetic abnormalities with t(11;14) may be important. Investigating the presence of cytogenetic abnormalities coexisting with t(11;14) is not only useful for evaluating prognosis but also important for understanding the pathogenesis of the disease. Recently, venetoclax, an oral BCL2 inhibitor, has demonstrated promising efficacy in plasma cell neoplasm patients harboring t(11;14). Development of an effective venetoclax-based regimen for treating aggressive IgE plasma cell neoplasm with t(11;14) is expected.
Refractory Immune Thrombocytopenic Purpura with Abdominal Splenosis: A Complex Case
Immune thrombocytopenia (ITP) is an acquired thrombocytopenia resulting from immune-mediated platelet destruction via antiplatelet antibodies and T cells. Medical management of ITP includes corticosteroids and multiple other adjunct therapies, with splenectomy generally being reserved for severe, refractory cases. In this clinical case report, we describe the evaluation of a 35-year-old male with a history of prior traumatic splenic injury who presented to the emergency department endorsing easy bruising and a petechial rash, ultimately found to have severe thrombocytopenia. The patient was diagnosed with primary ITP that proved to be refractory to a number of first- and second-line medical therapies. His course was complicated by the presence of abdominal splenosis discovered at the time of planned splenectomy and intra-abdominal hemorrhage requiring splenic artery embolization thereafter. To our knowledge, this is one of few published cases of ITP complicated by abdominal splenosis, highlighting the need to consider splenosis and the presence of accessory splenic tissue in cases of refractory ITP.
Two Refractory Immune Thrombocytopenia Case Reports Showing Responsiveness to Fostamatinib
Immune thrombocytopenia (ITP) is immune-mediated platelet loss due to increased destruction and insufficient production. Treatment guidelines provide for first-line steroid-based therapies followed by thrombopoietin receptor agonists (TPO-RAs) and fostamatinib for chronic ITP. Fostamatinib demonstrated efficacy in phase 3 FIT trials (FIT1 and FIT2) mainly in second-line therapy resulting in the maintenance of stable platelet values. Here, we describe two patients with extremely heterogeneous characteristics that responded to fostamatinib after two and nine previous treatments. Responses were complete with stable platelet counts ≥50,000/μL and without any grade ≥3 adverse reactions. As in the FIT clinical trials, we confirm better responses to fostamatinib when used in the second or third line. However, its use should not be excluded in patients with longer and more complicated drug histories. Given the different mechanism of action of fostamatinib compared to TPO-RAs, it would be interesting to identify predictive factors of responsiveness applicable to all patients.