Case Reports in Hematology最新文献

{"title":"Gilteritinib Monotherapy as a Transplant Bridging Option for a Patient with <i>FLT3</i>-Mutated Acute Promyelocytic Leukemia Who Developed a Second Relapse after All-Trans Retinoic Acid + Chemotherapy, Arsenic Trioxide, and High-Dose Cytarabine Therapy.","authors":"Hirofumi Kobayashi, Hiroki Tsutsumi, Yukiko Misaki, Takashi Maekawa, Naoko Inoshita, Machiko Kawamura, Nobuo Maseki","doi":"10.1155/2023/8568587","DOIUrl":"https://doi.org/10.1155/2023/8568587","url":null,"abstract":"<p><p>We report a case of FLT3-mutated APL who developed disease relapse despite all-trans retinoic acid (ATRA) + chemotherapy, and re-induction chemotherapy with arsenic trioxide (ATO) and high-dose (HD) cytarabine (Ara-C) therapy failed to yield complete remission. Because the leukemic cells were resistant to all the aforementioned therapies, we started the patient on monotherapy with gilteritinib, a selective FLT3-inhibitor, as an alternative re-induction treatment option rather than further intensive chemotherapy. The patient showed complete hematologic remission in response to this therapy. This case serves as supporting evidence for the use of single-agent therapy with gilteritinib as a bridge to transplantation in patients with refractory <i>FLT3</i>-mutated APL.</p>","PeriodicalId":46307,"journal":{"name":"Case Reports in Hematology","volume":"2023 ","pages":"8568587"},"PeriodicalIF":0.7,"publicationDate":"2023-12-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10732830/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"138832214","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Successful Use of Bortezomib in an Adolescent with Refractory TTP.","authors":"Junaid Ahmad Wali, Brian M Quigley, Beverly Schaefer","doi":"10.1155/2023/8173903","DOIUrl":"10.1155/2023/8173903","url":null,"abstract":"<p><p>With increasing early and upfront use of rituximab and caplacizumab in the modern management of immune-mediated thrombotic thrombocytopenic purpura (iTTP), the risk of refractory disease is expected to decline. However, despite the use of adequate initial therapy, a small subset of patients develop a refractory disease which is difficult to manage. Bortezomib has come to be known as a safe and effective treatment option for refractory iTTP, but its use in children is limited. Here, we describe the case of an adolescent patient with refractory iTTP who had a satisfactory and sustained response to the use of bortezomib.</p>","PeriodicalId":46307,"journal":{"name":"Case Reports in Hematology","volume":"2023 ","pages":"8173903"},"PeriodicalIF":0.7,"publicationDate":"2023-11-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10693465/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"138478919","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Composite Lymphoma with Follicular Lymphoma Transformation to Clonally Related Epstein–Barr Virus (EBV) Positive Diffuse Large B-Cell Lymphoma and EBV-PositiveClassic Hodgkin Lymphoma","authors":"Christopher B. Ryder, Hayder Saeed, Mohammad Hussaini","doi":"10.1155/2023/8833273","DOIUrl":"https://doi.org/10.1155/2023/8833273","url":null,"abstract":"While the Epstein–Barr virus (EBV) is known to drive de novo lymphomagenesis, it may rarely contribute to transformation of indolent lymphoma as well. Some EBV-related lymphomas represent a diagnostic challenge with important prognostic and therapeutic implications. We describe a case of follicular lymphoma (FL) transformation to both EBV + diffuse large B-cell lymphoma (DLBCL) and EBV + classic Hodgkin lymphoma (cHL), the latter of which was only identified retrospectively after selective outgrowth during DLBCL therapy. Finally, we describe successful salvage therapy with brentuximab vedotin plus nivolumab. This is the first known case of composite lymphoma with FL, EBV + DLBCL, and EBV + cHL within a single lymph node. The disease course highlights the importance of careful morphologic examination and comprehensive immunophenotypic characterization of EBV + lymphomas to ensure proper clinical care and underscores the potential for novel therapies currently under investigation. This trial is registered with NCT01671813.","PeriodicalId":46307,"journal":{"name":"Case Reports in Hematology","volume":" 8","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2023-11-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"135341287","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"A Case of Acute Myeloid Leukemia Mimicking Blastic Plasmacytoid Dendritic Cell Neoplasm: Utility of the Proposed Upcoming WHO-5 Diagnostic Criteria.","authors":"Bhvaneet Jhajj, Ryan Henrie, Youness El-Khalidy, Habib Moshref Razavi","doi":"10.1155/2023/5014728","DOIUrl":"10.1155/2023/5014728","url":null,"abstract":"<p><p>Blastic plasmacytoid dendritic cell neoplasm (BPDCN) is an aggressive hematologic malignancy which is associated with a distinctive morphologic appearance. However, the morphology is not specific, and diagnostic characterization requires integration of immunophenotypic and genetic testing. We herein report a case of a 35-year-old female patient who presented with worsening cytopenia. A bone marrow aspirate identified medium-sized blastic cells with perinuclear microvacuoles (\"pearl neckless\"). Occasional blasts demonstrated a \"hand mirror\" appearance. Tandem flow cytometry showed an atypical population of dim CD45 events with expression of CD4, CD56, CD117, CD123, and monocytic markers such as CD64. Fluorescence in situ hybridization (FISH) showed evidence of a KMT2A rearrangement with an unknown partner on chromosome 19. Expression of MPO and muramidase was present. The final diagnosis was acute monocytic leukemia (AMoL). Due to the overlapping features of acute myeloid leukemia and BPDCN, the 5^th Edition of the World Health Organization (WHO) Classification of Haematolymphoid Tumours provides new criteria for the diagnosis of BPDCN. Our case highlights the utility of these criteria.</p>","PeriodicalId":46307,"journal":{"name":"Case Reports in Hematology","volume":"2023 ","pages":"5014728"},"PeriodicalIF":0.7,"publicationDate":"2023-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10632061/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"72016718","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Central Nervous System (CNS) T-Cell Lymphoma as the Presenting Manifestation of Late-Onset Combined Immunodeficiency.","authors":"Anthony Jeffrey,&nbsp;Luke A Coyle,&nbsp;Dishan Samaranayake,&nbsp;Therese Boyle,&nbsp;James Drummond,&nbsp;Suran L Fernando","doi":"10.1155/2023/6650410","DOIUrl":"10.1155/2023/6650410","url":null,"abstract":"<p><p>Late-onset combined immunodeficiency (LOCID), considered now a subset of common variable immunodeficiency (CVID) disorders, is characterized by a predominantly T-cell immune defect. LOCID has a distinct phenotype from CVID with a greater risk of lymphoproliferative complications. As compared to the CVID cohort, LOCID patients also have increased rates of splenomegaly and granulomatous disease. We report a case of central nervous system (CNS) T-cell lymphoma in a 67-year-old male as the presenting manifestation of LOCID. The patient achieved a complete response to therapy after 4 cycles of MATRix (methotrexate, cytarabine, and thiotepa) and 2 cycles of ICE (etoposide, carboplatin, and ifosfamide) chemotherapy followed by CNS-directed autologous stem cell transplantation. Intravenous immunoglobulin replacement was commenced to address the underlying immunodeficiency. Pulmonary lesions consistent with a diagnosis of granulomatous and lymphocytic interstitial lung disease (GLILD) were identified as a second noninfectious complication of LOCID. The pulmonary lesions resolved after chemotherapy and immunoglobulin replacement. The patient remains well with no evidence of disease recurrence now more than 18 months after completion of therapy. This is the first reported case of T-cell lymphoma in an adult patient with LOCID. Further study is needed to elucidate the mechanisms of transformation of B- or T-cells to lymphoproliferation in primary immunodeficiency patients as well as research to inform evidence-based therapeutic strategies for this challenging cohort of patients.</p>","PeriodicalId":46307,"journal":{"name":"Case Reports in Hematology","volume":"2023 ","pages":"6650410"},"PeriodicalIF":0.7,"publicationDate":"2023-10-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10599841/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"54231551","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Young Woman with Unexplained Neutropenia and Neutrophils with Bilobed Nuclei: Marrow Findings.","authors":"Martin Barnes,&nbsp;Victoria Shklar,&nbsp;Dipen Patel,&nbsp;Harry Staszewski","doi":"10.1155/2023/8844577","DOIUrl":"10.1155/2023/8844577","url":null,"abstract":"<p><p>A 27-year-old female with a history of chronic sinusitis was referred for the evaluation of asymptomatic neutropenia. The differential demonstrated a mild neutropenia, which eventually resolved on subsequent evaluation. The liver and the spleen were not palpable. Peripheral flow cytometry was normal. Peripheral blood smear (PBS) demonstrated numerous Pelger-Huet anomalous neutrophils with characteristic \"pince-nez\" nuclei, without significant abnormalities in the other cell lines. Due to the benign clinical nature of hereditary PHA, a bone marrow biopsy is almost never required. However, our patient's persistent and worsening neutropenia was unusual for hereditary PHA, so a bone marrow biopsy was performed to rule out MDS and leukemia. Our patient's bone marrow smears showed dysplastic changes to other cell lines including the megakaryocytes and erythroid precursors. Due to our patient's young age and concern that she may have a more serious marrow disorder, genetic testing was pursued. Germline testing in the LBR gene revealed a heterozygous pathogenic mutation, namely, the PR57837.17 variant, confirming the diagnosis of hereditary disease. The bone marrow biopsy performed on our patient illustrates that the presence of dysplasia does not rule out hereditary PHA and further genetic testing should be done in the appropriate clinical scenario. This case was an atypical presentation of hereditary PHA with confounding morphological features that would typically classify the disease as an acquired or pseudo-PHA, hence acting as a Pseudo-Pseudo-Pelger-Huet Anomaly.</p>","PeriodicalId":46307,"journal":{"name":"Case Reports in Hematology","volume":"2023 ","pages":"8844577"},"PeriodicalIF":0.7,"publicationDate":"2023-09-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10545456/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"41152100","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Intravascular Large B-Cell Lymphoma.","authors":"Mehdi Loukhnati,&nbsp;Fatima Ezzahra Lahlimi,&nbsp;Illias Tazi","doi":"10.1155/2023/5596890","DOIUrl":"https://doi.org/10.1155/2023/5596890","url":null,"abstract":"<p><p>Intravascular large B-cell lymphoma (IVBCL) is a very rare and aggressive subtype of extranodal diffuse large B-cell lymphoma (DLBCL) involving the growth of lymphoma cells within blood vessels of all organ types. We present the case of a 55-year-old North-African man with no prior history of neoplastic disease presenting with weight loss and an isolated splenomegaly. Investigations led to the diagnosis of this disease. To the best of our knowledge, this is the first case recorded in Africa. Through this article, we discuss this case and outline the common presentation, paraclinical investigations, and treatment options of IVBCL.</p>","PeriodicalId":46307,"journal":{"name":"Case Reports in Hematology","volume":"2023 ","pages":"5596890"},"PeriodicalIF":0.7,"publicationDate":"2023-09-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10516690/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"41137471","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"VEXAS Syndrome in a Patient with Myeloproliferative Neoplasia.","authors":"Janne Austestad, Tor Magne Madland, Miriam Sandnes, Torjan Magne Haslerud, Andreas Benneche, Håkon Reikvam","doi":"10.1155/2023/6551544","DOIUrl":"10.1155/2023/6551544","url":null,"abstract":"<p><p>VEXAS syndrome stands for vacuoles, E1 enzyme, <i>X</i>-linked, autoinflammatory, somatic syndrome. The syndrome is a combined hematological and rheumatological condition caused by a somatic mutation in the <i>UBA1</i>. There is an association between VEXAS and hematological conditions such as myelodysplastic syndrome (MDS), monoclonal gammopathies of uncertain conditions (MGUS), multiple myeloma (MM), and monoclonal B-cell lymphoproliferative conditions. There are not many descriptions of patients having VEXAS in combination with myeloproliferative neoplasm (MPN). With this article, we want to present a case history of a man in his sixties with a <i>JAK2</i>V617F mutated essential thrombocythemia (ET) developing VEXAS syndrome. The inflammatory symptoms occurred three and a half years after the ET diagnosis. He started to experience symptoms of autoinflammation and an overall worsening of his health, and blood work showed high inflammatory markers, leading to repeated hospitalizations. His major complaint was stiffness and pain, and high dosages of prednisolone were necessary to obtain pain relief. He subsequently developed anemia and significantly variable levels of thrombocytes, which previously were at a steady level. To evaluate his ET, we made a bone marrow smear demonstrating vacuolated myeloid and erythroid cells. Having VEXAS syndrome in mind, genetic testing identifying the <i>UBA1</i> gene mutation was performed, thus confirming our suspicion. The work-up with myeloid panel on his bone marrow identified genetic mutation in the <i>DNMT3</i> too. After developing VEXAS syndrome, he experienced thromboembolic events with both cerebral infarction and pulmonary embolism. Thromboembolic events are also common in <i>JAK2</i> mutated patients, but in his case, they presented first after VEXAS had developed. Throughout the course of his condition, several attempts with prednisolone tapering and steroid sparing drugs were tried. He could not get pain relief unless the combination of medications included a relatively high dose of prednisolone. Currently, the patient uses prednisolone, anagrelide, and ruxolitinib, with partial remission and fewer hospitalizations and more stabilized hemoglobin and thrombocytes.</p>","PeriodicalId":46307,"journal":{"name":"Case Reports in Hematology","volume":"2023 ","pages":"6551544"},"PeriodicalIF":0.7,"publicationDate":"2023-02-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9985496/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10857224","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Detection of an <i>MN1::ETV6</i> Gene Fusion in a Case of Acute Myeloid Leukemia with Erythroid Differentiation: A Case Report and Review of the Literature.","authors":"Lauren A Choate,&nbsp;Liuyan Jiang,&nbsp;Mariam I Stein,&nbsp;Wei Shen,&nbsp;Linda B Baughn,&nbsp;Jess F Peterson","doi":"10.1155/2023/9771388","DOIUrl":"https://doi.org/10.1155/2023/9771388","url":null,"abstract":"<p><p>The <i>MN1::ETV6</i> 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 <i>in situ</i> hybridization studies demonstrated a balanced <i>ETV6</i> gene rearrangement (at 12p13). To further characterize this translocation, whole-genome sequencing was performed which confirmed t(12;22) with breakpoints involving the <i>MN1</i> and <i>ETV6</i> genes. Herein, we describe our case and review the literature to summarize the clinical and laboratory findings in patients with this rare but recurrent <i>MN1::ETV6</i> gene fusion observed in myeloid neoplasms. Importantly, this case expands the clinical spectrum associated with the <i>MN1::ETV6</i> 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.</p>","PeriodicalId":46307,"journal":{"name":"Case Reports in Hematology","volume":"2023 ","pages":"9771388"},"PeriodicalIF":0.7,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10332927/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9869870","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Two Refractory Immune Thrombocytopenia Case Reports Showing Responsiveness to Fostamatinib.","authors":"Vanessa Innao,&nbsp;Rosalba Donatella Calogero,&nbsp;Fabrizio Lo Presti,&nbsp;Ugo Consoli","doi":"10.1155/2023/9953245","DOIUrl":"https://doi.org/10.1155/2023/9953245","url":null,"abstract":"<p><p>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/<i>μ</i>L 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.</p>","PeriodicalId":46307,"journal":{"name":"Case Reports in Hematology","volume":"2023 ","pages":"9953245"},"PeriodicalIF":0.7,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10266907/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9656280","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}