Aggressive Disease Course of Multiple Myeloma with Concomitant ALK-Negative Anaplastic Large Cell Lymphoma: A Case Report with an Unusual PresentationRead 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.
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Myeloid Sarcomas Causing Unilateral Cranial Nerve Palsies in a Patient with Relapsed Acute Myeloblastic Leukemia
Myeloid sarcomas (MS) are a rare manifestation of myeloid malignancies and can often be misdiagnosed, leading to a delay in treatment. The objective of this clinical case is to highlight the challenges of the clinical presentation and to emphasize the importance of this manifestation ensuring timely diagnosis and therapy. Here, we present a 43-year-old man who was diagnosed with acute myeloblastic leukemia (AML) after being evaluated for unintentional weight loss, subcutaneous nodules, thrombocytopenia, and anemia. The patient underwent chemotherapy with complete remission and presented 4 months later with dysphagia and cranial nerve palsies. Appropriate imaging and biopsy led to a diagnosis of myeloid sarcoma, and a decision was made to begin reinduction chemotherapy for AML achieving a second complete remission although his neurological deficits did not improve. Our case illustrates the protean presentation of myeloid sarcomas; clinicians should have a high suspicion for MS and remain vigilant when unexplained signs and symptoms arise in the background of a myeloid malignancy although challenges still remain when presentation is de novo. Advancements in understanding the pathophysiology of MS have been performed but remain not completely understood. High clinical suspicion, appropriate imaging, biopsy techniques, and expertise are paramount for timely diagnosis and treatment.
Prolonged Pediatric Extracorporeal Membrane Oxygenation Support with Cardiopulmonary Failure in Juvenile Myelomonocytic Leukemia
We report a case of a child survival after extracorporeal membrane oxygenation (ECMO) support of 25 days for cardiopulmonary failure and septic shock in the context of juvenile myelomonocytic leukemia (JMML). ECMO support is still a matter of debate for the management of septic patients with malignancy. However, these patients are at increased risk for early death secondary to pulmonary complications due to leukostasis, direct pulmonary infiltration with WBC, and systemic inflammatory response syndrome following malignant cell lysis. Despite the high risk of complications, ECMO support must be discussed as part of management, providing better outcome in this group of patients.
Severe Aplastic Anemia Developed after Thymectomy: A Case Report and Literature Review
Thymus neoplasms are frequently related to paraneoplastic autoimmune manifestations. Its most common associations are myasthenia gravis and pure red cell aplasia. Aplastic anemia has been increasingly documented as an initial presentation of thymoma. Nevertheless, its development after successful surgical resection of thymoma is a rare condition. We report a case of a 53-year-old man with severe aplastic anemia preceded by amegakaryocytic thrombocytopenia three years after thymectomy with no signs of disease recurrence. He underwent immunosuppressive therapy with cyclosporine 5 mg/kg/day and prednisone 2 mg/kg/day for six weeks. Considering the availability of a compatible donor, allogeneic stem cell transplantation was carried out. However, the patient died 11 days after transplant. A literature review was conducted, and another ten cases of aplastic anemia, diagnosed three months to four years after thymectomy, were identified. These cases suggest persistence of peripheral self-reactive T lymphocytes even years after tumor definitive treatment.
ETV6: A Candidate Gene for Predisposition to “Blend Pedigrees”? A Case Report from the NEXT-Famly Clinical Trial
Background. The identification of germline mutations in familial leukemia predisposition genes by next generation sequencing is of pivotal importance. Lately, some “blend pedigrees” characterized by both solid and hematologic malignancies have been described. Some genes were recognized as related to this double predisposition, while the involvement of others is still a matter of debate. ETV6 was associated with hematologic malignancies, in particular myeloid malignancies, and recently described as mutated also in oncologic patients. No clear evidences in its involvement in blend pedigrees are known. Case Presentation. We present our recent experience in the identification of an ETV6-mutated “blend pedigree,” suggesting the involvement of ETV6 in the predisposition to both solid and hematologic neoplasia. The pedigree recognition started with a MDS case enrolled in the NEXT-Famly protocol. The patient presented 9 relatives affected by solid tumors and hematological malignancies. Following the clinical trial protocol, the patient underwent NGS analysis, which confirmed the presence of a mutation on the noncoding region of ETV6 both on tumor and on germline DNA. The mutation resulted was shared by the still alive affected relatives. Conclusion. This evidence supports the involvement of ETV6 in the predisposition to both solid and hematologic neoplasia and the importance of the investigation of the noncoding regions of the genes as recently suggested by different expert groups.
Aggressive Central Nervous System Relapse after Autologous Stem Cell Transplant in Multiple Myeloma: Case Reports and Literature Review
Extramedullary disease is an aggressive presentation at diagnosis and relapse for multiple myeloma (MM) patients. Central nervous system (CNS) is a very rare manifestation of the extramedullary disease, accounting for less than 1% of MM on diagnosis and relapse. Neurological symptoms are unspecific and usually attributed to other causes. We present two patients with CNS-MM at relapse after autologous stem cell transplant highlighting the importance of clinical suspicion and interdisciplinarity at diagnostic workup as well as the need for intensive therapeutic options on such rare and aggressive cases. The presence of neurological abnormalities in anamnesis and physical examination on a patient with MM should always prompt to suspect of a CNS involvement, and active investigation must be undertaken. MRI is the standard radiological method to detect CNS-MM, with histopathological corroboration by stereotactic biopsy and CSF evaluation alongside. Treatment of CNS-MM should include two essential approaches—be able to cross the BBB and treat the systemic disease. There is no standard therapy for this extramedullary relapse, and a tailored and multiple therapy should be promptly started—intrathecal therapy, radiotherapy, and systemic therapy, including an immunomodulator.
An Unusual Initial Presentation of Diffuse Large B-Cell Lymphoma as Recurrent Syncope
We describe a rare presentation of diffuse large B-cell Lymphoma (DLBCL) with recurrent episodes of syncope. During the workup for syncope, the patient was incidentally found to have an extensive mass in the left thorax, which was later diagnosed as stage 2 bulky disease DLBCL. This is the rare case of lymphoma presenting as recurrent syncope without cardiac involvement. The patient did not have any further episodes of syncope after her successful treatment of DLBCL.