Case Reports in Hematology最新文献

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.

Erdheim-Chester disease (ECD), a rare form of non-Langerhans histiocytosis, is a multisystem disorder. The case reported here refers to a 49-year-old man presenting at the emergency room with respiratory symptoms. While undergoing diagnostic tests for COVID-19 infection, tomography revealed asymptomatic bilateral perirenal tumors, while renal function remained unaltered. ECD was suggested as an incidental diagnosis and confirmed by core needle biopsy. This report provides a brief description of the clinical, laboratory, and imaging findings in this case of ECD. This diagnosis, albeit rare, should be taken into consideration in the context of incidental findings of abdominal tumors to ensure that treatment, when required, is instituted early.

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.

A 69-year-old woman was diagnosed with acute myeloid leukemia (AML) with an FMS-like tyrosine kinase 3-internal tandem duplication (FLT3-ITD) mutation. Complete remission (CR) was achieved after induction therapy, but AML resulted in a hematological relapse two months after the consolidation chemotherapy. Relapse was accompanied by multiple skin lesions that demonstrated leukemic cell infiltration as well as a drooping right eyelid with extroversion of the eye due to right oculomotor palsy. Gilteritinib was started as salvage therapy, and bone marrow blasts decreased to 0.8% after one month. Two months later, the eye symptoms improved, and the patient underwent cord blood transplantation (CBT). The skin lesions disappeared after the conditioning regimen, and the patient achieved CR status with complete donor chimerism at day 28. Gilteritinib was restarted as posttransplant maintenance therapy on day 53 of CBT. No adverse events other than mild hepatotoxicity were observed, and the patient was alive and in CR status, while continuing gilteritinib at one year and seven months after CBT. Bridging and posttransplant maintenance therapy with gilteritinib may be a promising therapeutic option for relapsed AML with the FLT3-ITD mutation in elderly patients.

Acquired resistance to tyrosine kinase inhibitors (TKIs) remains a therapeutic challenge in the treatment of chronic myeloid leukemia (CML). The most studied reason for TKI resistance is the acquisition of mutations within the BCR::ABL1 tyrosine kinase domain (KDM) and of which the majority of which occur at seven codons within this region. A case of CML is described in which presence of a rare D363G BCR::ABL1 KDM resulted in a suboptimal response to frontline imatinib. Switching to dasatinib resulted in achieving a sustained major molecular response that was maintained after a subsequent switch to bosutinib due to the side effects. Reporting of such cases is important for the future management of any CML patients with this rare mutation.

Primary cardiac lymphoma (PCL) is a rare, potentially fatal subtype of non-Hodgkin's lymphoma. Thrombocytopenia has also infrequently been reported in association with other primary cardiac tumours and can add substantial morbidity to an already life-threatening diagnosis if present. We report a rare case of a 70-year-old man who presented with thrombocytopenia (91 × 10⁹/L) and progressive right heart failure. Transthoracic echocardiogram revealed a large 8 × 4 cm right atrial mass with severe tricuspid obstruction, confirmed as PCL on subsequent endomyocardial biopsy and immunohistochemistry. He deteriorated into cardiogenic shock precipitated by atrial fibrillation, with worsening thrombocytopenia (18 × 10⁹/L) in the setting of ischaemic hepatitis. The patient stabilised with initiation of high dose steroids prior to tissue diagnosis and platelet counts normalised following chemotherapy. This case demonstrates the importance of considering PCL as a diagnosis and preemptive initiation of high dose steroids to improve outcomes in PCL associated with cardiogenic shock. This case also elucidates a potential pathophysiological association between PCL and thrombocytopenia.

Blastic plasmacytoid dendritic cell neoplasm (BPDCN) is a rare and highly aggressive hematologic malignancy that arises from plasmacytoid dendritic cells. BPDCN typically presents with skin lesions and may involve peripheral blood, bone marrow, lymph nodes, or extranodal sites. It usually arises de novo, and some BPDCN cases are associated with or develop into myeloid neoplasms. Here, we report a case of a 57-year-old female presenting with cervical lymphadenopathy and skin rashes during the COVID-19 pandemic in 2021 following multiple types of postmastectomy therapy for breast cancer. The patient was ultimately diagnosed with BPCDN by lymph node biopsy. To the best of our knowledge, this is the first case report of BPDCN occurring postchemotherapy of breast cancer.

Plasmacytoma is a rare cancer that originates from a single plasma cell and is characterized by the abnormal proliferation of monoclonal plasma cells. It is typically localized in a single area of the body, most commonly in the bone or soft tissue. Solitary plasmacytoma can be further classified as either solitary plasmacytoma of bone (SPB) or solitary extramedullary plasmacytoma (SEP or EMP). Diagnosis may be delayed in symptomatically silent plasmacytomas, but early diagnosis and prompt treatment are crucial for the management of this disease. The mean age for patients with plasmacytoma varies depending on the specific type of plasmacytoma, but generally, it is more common in older adults. Soft tissue plasmacytomas are uncommon, and plasmacytomas manifesting within the breast are extremely rare, especially when they are not a manifestation of multiple myeloma (MM). This report presents a case of SEP of the breast in a 79-year-old female patient. This rare disease needs to be studied further in terms of long-term survival and disease progression to MM. By raising awareness and understanding of plasmacytoma, we aim to improve outcomes and quality of life for patients affected by this disease.

Plasma cell dyscrasias are a subset of hematological malignancies involving the production of monoclonal immunoglobulins. This spectrum of disorders includes asymptomatic conditions such as monoclonal gammopathy of unknown significance as well as extremely aggressive malignancies such as plasma cell leukemia. Monoclonal gammopathies are occasionally associated with renal failure, which can occur via many pathophysiological processes. The most common of these is light chain cast nephropathy, but many rare renal complications exist, including thrombotic microangiopathy (TMA) and focal segmental glomerulosclerosis (FSGS). Here, we report a patient with new renal failure with features of TMA and FSGS on biopsy and found to be secondary to plasma cell leukemia.

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.