Case Reports in Hematology最新文献

{"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}

{"title":"Refractory Immune Thrombocytopenic Purpura with Abdominal Splenosis: A Complex Case.","authors":"Joseph F Mort,&nbsp;Danh T Tran,&nbsp;Sean C Dougherty,&nbsp;Robert Zielinski,&nbsp;Michael D Williams,&nbsp;Kelly M Davidson","doi":"10.1155/2023/9714457","DOIUrl":"https://doi.org/10.1155/2023/9714457","url":null,"abstract":"<p><p>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.</p>","PeriodicalId":46307,"journal":{"name":"Case Reports in Hematology","volume":"2023 ","pages":"9714457"},"PeriodicalIF":0.7,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10307128/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9729622","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":"Pyruvate Kinase Deficiency Causing Priapism.","authors":"Vinay Hanyalu Shankar,&nbsp;Bharadwaj Adithya-Sateesh,&nbsp;Nicole Gousy,&nbsp;Girma Ayele,&nbsp;Freyr Petursson,&nbsp;Rediet Atalay,&nbsp;Miriam Michael","doi":"10.1155/2023/6503311","DOIUrl":"https://doi.org/10.1155/2023/6503311","url":null,"abstract":"<p><p>Pyruvate kinase deficiency (PKD) is an autosomal recessive defect of the enzyme pyruvate kinase (PK) which is involved in catalyzing a reaction that produces ATP in the glycolytic pathway. It is the most common defect of the glycolytic pathway associated with congenital anemia. Patients usually present with signs of chronic hemolytic anemia such as hyperbilirubinemia, splenomegaly, reticulocytosis, and gallstones; the presentation can vary by age. Diagnosis is usually made by demonstration of decreased PK enzymatic activity in a spectrophotometric assay and on the detection of mutations in the PK-LR gene. Management strategies vary from full splenectomies to hematopoietic stem cell transplants with gene therapies with transfusions and administration of PK-activators coming in between. Thromboembolic complications do occur in patients with splenectomy, but there are not much data regarding this for patients with PKD. We present a case of a patient with PKD who demonstrated priapism to be a thromboembolic complication. This differs greatly as priapism has been frequently reported in patients with other chronic hemoglobinopathies such as sickle cell disease, thalassemia, and G6PD with and without splenectomy. While it is still unclear how splenectomies can result in thrombotic events in PKD, there does appear to be a correlation between splenectomies with resultant thrombocytosis with increased platelet adhesion.</p>","PeriodicalId":46307,"journal":{"name":"Case Reports in Hematology","volume":"2023 ","pages":"6503311"},"PeriodicalIF":0.7,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10185413/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9486016","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":"Multilineage Lymphoblastic Lymphoma as an Initial Presentation of Mixed Phenotype Acute Leukemia.","authors":"Mako Ikeda,&nbsp;Wataru Nakahara,&nbsp;Mizuki Asako,&nbsp;Yuka Umeki,&nbsp;Yoshiki Matsuoka,&nbsp;Takuya Terakawa,&nbsp;Hitomi Matsunaga,&nbsp;Yuki Iwasa,&nbsp;Riko Saito,&nbsp;Yuki Iwama,&nbsp;Takahiro Matsui,&nbsp;Kazumasa Oka,&nbsp;Shuji Ueda","doi":"10.1155/2023/3628712","DOIUrl":"https://doi.org/10.1155/2023/3628712","url":null,"abstract":"<p><p>Mixed phenotype acute leukemia (MPAL) is characterized by leukemic blasts that express markers of multiple lineages. Compared with acute myeloid leukemia (AML) and acute lymphoblastic leukemia (ALL), MPAL is considered to have a poor treatment outcome. We report a case of MPAL T/myeloid not otherwise specified that was initially presented as multilineage lymphoblastic lymphoma and subsequently developed into leukemic MPAL. An acute lymphoblastic leukemia-based treatment regimen was ineffective, but azacitidine and venetoclax therapy resulted in hematological complete remission. Our case suggests that multilineage lymphoblastic lymphoma should be considered to be the same disease as MPAL, albeit with different clinical presentations. Optimal treatment for MPAL has not been established yet, but azacitidine and venetoclax therapy may be a potential approach.</p>","PeriodicalId":46307,"journal":{"name":"Case Reports in Hematology","volume":"2023 ","pages":"3628712"},"PeriodicalIF":0.7,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9985503/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10849527","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":"WHIM Syndrome: First Reported Case in a Patient of African Ancestry.","authors":"Jinal Gandhi,&nbsp;Michelle H Lee,&nbsp;Lynsie Adams,&nbsp;Tara Shrout Allen,&nbsp;Julie Li,&nbsp;Camille Vanessa Edwards","doi":"10.1155/2023/3888680","DOIUrl":"https://doi.org/10.1155/2023/3888680","url":null,"abstract":"<p><strong>Background: </strong>Warts, hypogammaglobulinemia, infections, and myelokathexis (WHIM) syndrome is a rare, primary immunodeficiency syndrome characterized by warts, hypogammaglobulinemia, immunodeficiency, and characteristic bone marrow features of myelokathexis. The pathophysiology of WHIM syndrome is due to an autosomal dominant gain of function mutation in the CXCR4 chemokine receptor resulting in increased activity that impairs neutrophil migration from the bone marrow into the peripheral blood. This results in bone marrow distinctively crowded with mature neutrophils whose balance is shifted towards cellular senescence developing these characteristic, apoptotic nuclei termed myelokathexis. Despite the resultant severe neutropenia, the clinical syndrome is often mild and accompanied by a variety of associated abnormalities that we are just beginning to understand. <i>Case Report</i>. Diagnosis of WHIM syndrome is incredibly difficult due to phenotypic heterogeneity. To date, there are only about 105 documented cases in the scientific literature. Here, we describe the first case of WHIM syndrome documented in a patient of African ancestry. The patient in question was diagnosed at the age of 29 after a comprehensive work-up for incidental neutropenia discovered at a primary care appointment at our center in the United States. In hindsight, the patient had a history of recurrent infections, bronchiectasis, hearing loss, and VSD repair that could not be previously explained.</p><p><strong>Conclusions: </strong>Despite the challenge of timely diagnosis and the wide spectrum of clinical features that we are still discovering, WHIM syndrome tends to be a milder immunodeficiency that is highly manageable. As presented in this case, most patients respond well to G-CSF injections and newer treatments such as small-molecule CXCR4 antagonists.</p>","PeriodicalId":46307,"journal":{"name":"Case Reports in Hematology","volume":"2023 ","pages":"3888680"},"PeriodicalIF":0.7,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9925260/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10856156","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}