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Case Reports in Hematology

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https://www.readbyqxmd.com/read/29225979/waldenstrom-s-macroglobulinemia-a-report-of-two-cases-one-with-severe-retinopathy-and-one-with-renal-failure
#1
Naoko Kudo, Masakatsu Usui, Yukiharu Nakabo, Ken-Ichi Yoshida, Kenji Miki, Takashi Osafune, Keisuke Nishimura, Shinsaku Imashuku
We report here two cases of Waldenstrom's macroglobulinemia (WM), one with central nervous system (CNS) symptoms and severe retinopathy and one with renal failure. In both cases, the serum IgM levels exceeded 3,000 mg/dL and monoclonal IgM-kappa was observed in the blood. At onset, Case 1, a 63-year-old female, developed CNS symptoms-namely, drowsiness and syncope. Case 2, a 58-year-old male, had nausea and dysgeusia on admission associated with renal failure, which is quite rare in patients with WM. Both patients exhibited hyperviscosity-related retinopathy, but it was particularly severe in Case 1: she suddenly lost her vision after admission...
2017: Case Reports in Hematology
https://www.readbyqxmd.com/read/29214086/erdheim-chester-disease-with-no-skeletal-bone-involvement-and-massive-weight-loss
#2
Hind Salama, Suleiman Kojan, Shaima Abdulrahman, Fahad Azzumeea, Ayman Alhejazi
Erdheim-Chester disease (ECD) is a rare type of non-Langerhans cell histiocytosis, with only 550 cases reported worldwide. ECD is characterized by diffuse histiocytic infiltration of multiorgans. The age of presentation of this disease is typically between 40 and 70 years. Bone disease is the most common symptom, as unique radiological findings of long bone sclerosis occur in 96% of cases. Furthermore, BRAF V600E mutation is detected in 60% of ECD cases. In this manuscript, we are describing a unique case of ECD; the patient is younger than most reported cases and has no bone pain or any skeletal involvement...
2017: Case Reports in Hematology
https://www.readbyqxmd.com/read/29201472/severe-cytomegalovirus-reactivation-in-patient-with-low-grade-non-hodgkin-s-lymphoma-after-standard-chemotherapy
#3
Lena Modvig, Ciaran Boyle, Katie Randall, Anton Borg
Clinically significant cytomegalovirus (CMV) reactivation is not uncommon in patients with severe immunodeficiency secondary to underlying medical disorders or following aggressive immunosuppressive therapy. However, it is less frequently found in patients with low-grade haematological malignancies after nonintensive chemotherapy. We treated a patient at our centre for stage IVB follicular lymphoma with standard chemotherapy who successively developed CMV colitis associated with a CMV viral load of >3 million copies/ml...
2017: Case Reports in Hematology
https://www.readbyqxmd.com/read/29163992/cd56-negative-aggressive-nk-cell-leukemia-relapsing-as-multiple-cranial-nerve-palsies-case-report-and-literature-review
#4
M Guerreiro, F Príncipe, M J Teles, S Fonseca, A H Santos, E Fonseca, P Gomes, C Marques, M Lima
Background: Aggressive natural killer cell leukemia (ANKL) is extremely rare and habitually manifests as a systemic disease with multiorgan failure that rapidly evolves to death. The neoplastic natural killer (NK) cells usually harbor the Epstein-Barr virus (EBV) with a latent viral infection pattern type II; they often have a cytoplasmic CD3ε+ and surface CD3-, CD2+, and CD56+ immunophenotype, and they show complex genetic abnormalities affecting multiple tumor suppressor genes and oncogenes...
2017: Case Reports in Hematology
https://www.readbyqxmd.com/read/29158926/acquired-elliptocytosis-as-a-manifestation-of-myelodysplastic-syndrome-with-ring-sideroblasts-and-multilineage-dysplasia
#5
Jacob D Kjelland, Denis M Dwyre, Brian A Jonas
Acquired elliptocytosis is a known but rarely described abnormality in the myelodysplastic syndromes (MDS). Here we report the case of an elderly male who was admitted to the hospital with chest pain, dyspnea, and fatigue and was found to be anemic with an elliptocytosis that had only recently been noted on peripheral smears of his blood. After bone marrow biopsy he was diagnosed with MDS with ring sideroblasts and multilineage dysplasia and acquired elliptocytosis. Here we report a rare case of acquired elliptocytosis cooccurring with MDS with ring sideroblasts and multilineage dysplasia...
2017: Case Reports in Hematology
https://www.readbyqxmd.com/read/29158925/splenic-infarct-and-pulmonary-embolism-as-a-rare-manifestation-of-cytomegalovirus-infection
#6
Prashanth Rawla, Anantha R Vellipuram, Sathyajit S Bandaru, Jeffrey Pradeep Raj
Cytomegalovirus (CMV) is a type of herpes infection that has a characteristic feature of maintaining lifelong latency within the host cell. CMV manifestations can cover a broad spectrum from fever to as severe as pancytopenia, hepatitis, retinitis, meningoencephalitis, Guillain-Barre syndrome, pneumonia, and thrombosis. Multiple case reports of thrombosis associated with CMV have been reported. Deep vein thrombosis or pulmonary embolism is more common in immunocompetent patients while splenic infarct is more common in immunocompromised patients...
2017: Case Reports in Hematology
https://www.readbyqxmd.com/read/29147592/unusual-presentation-of-a-small-cell-variant-of-anaplastic-large-cell-lymphoma-case-when-a-septic-picture-is-not-sepsis
#7
Zhou Yu, Yifan Pang, Linda Wang, Daniel E Ezekwudo, Foluso Ogunleye, Susanna S Gaikazian, Mark Micale, James Huang, Ann Marie Blenc, Ishmael Jaiyesimi
We report a case of a small-cell variant of anaplastic large-cell lymphoma, with an unusual clinical presentation mimicking sepsis and a fulminant clinic course, in a 48-year-old Caucasian female. In this report, we discuss the diagnostic challenge, histopathologic features, and unique cytogenetic features of this case, in order to raise awareness of this rare presentation and emphasize the importance of meticulous peripheral smear examination and early bone marrow evaluation.
2017: Case Reports in Hematology
https://www.readbyqxmd.com/read/29147591/upper-limb-deep-vein-thrombosis-in-patient-with-hemophilia-a-and-heterozygosity-for-prothrombin-g20210a-a-case-report-and-review-of-the-literature
#8
Fares Darawshy, Yosef Kalish, Issam Hendi, Ayman Abu Rmelieh, Tawfik Khoury
Deep vein thrombosis (DVT) is a rare disease in patients with hemophilia A. We report a case of 22-year-old male with severe hemophilia A who presented to the emergency room with 5-day history of right arm pain that was attributed initially to bleeding event. In the absence of external signs of bleeding or hematoma and normal hemoglobin level, we suspected an underlying DVT. Doppler ultrasonography of the right upper limb revealed thrombosis of the subclavian vein and this was confirmed by CT venography. The d-dimer level was normal and investigations for prothrombotic state revealed heterozygosity for prothrombin G20210A mutation...
2017: Case Reports in Hematology
https://www.readbyqxmd.com/read/29147590/paroxysmal-nocturnal-hemoglobinuria-in-pregnancy-a-dilemma-in-treatment-and-thromboprophylaxis
#9
Arpan Patel, Athira Unnikrishnan, Martina Murphy, Robert Egerman, Sarah Wheeler, Ashley Richards, John Wingard
Paroxysmal nocturnal hemoglobinuria (PNH) is a hematologic disorder characterized by an acquired somatic mutation in the phosphatidylinositol glycan class A gene which leads to a higher risk for increased venous and arterial thrombosis. Current treatment for PNH includes eculizumab. Pregnant patients who have PNH have higher risk for thrombosis and hemorrhage with both pregnancy and their underlying PNH. Treatment frequently poses conundrum. The safety and efficacy of eculizumab during pregnancy and breast feeding have not been extensively studied and contraception has been recommended due to potential for teratogenicity...
2017: Case Reports in Hematology
https://www.readbyqxmd.com/read/29147589/%C3%AE-%C3%AE-t-cell-acute-lymphoblastic-leukemia-lymphoma-discussion-of-two-pediatric-cases-and-its-distinction-from-other-mature-%C3%AE-%C3%AE-t-cell-malignancies
#10
Eric X Wei, Vasiliki Leventaki, John K Choi, Susana C Raimondi, Elizabeth M Azzato, Sheila A Shurtleff, Menchu G Ong, Diana M Veillon, James D Cotelingam, Rodney E Shackelford
Gamma delta (γδ) T-cell antigen receptor (TCR) expression and its related T-cell differentiation are not commonly reported in T-cell acute lymphoblastic leukemia/lymphoma (T-ALL). Here we report two pediatric T-ALL cases and present their clinical features, histology, immunophenotypes, cytogenetics, and molecular diagnostic findings. The first patient is a two-year-old girl with leukocytosis, circulating lymphoblasts, and a cryptic insertion of a short-arm segment at 10p12 into the long-arm segment of 11q23 resulting in an MLL and AF10 fusion transcript, which may be the first reported in γδ T-ALL...
2017: Case Reports in Hematology
https://www.readbyqxmd.com/read/29123930/chronic-myeloid-leukemia-with-an-e6a2-bcr-abl1-fusion-transcript-cooperating-mutations-at-blast-crisis-and-molecular-monitoring
#11
Mireille Crampe, Karl Haslam, Emma Groarke, Eileen Kelleher, Derville O'Shea, Eibhlin Conneally, Stephen E Langabeer
A minority of chronic myeloid leukemia patients (CML) express a variety of atypical BCR-ABL1 fusion variants and, of these, the e6a2 BCR-ABL1 fusion is generally associated with an aggressive disease course. Progression of CML to blast crisis is associated with acquisition of additional somatic mutations yet these events have not been elucidated in patients with the e6a2 BCR-ABL1 genotype. Moreover, molecular monitoring is only sporadically performed in CML patients with atypical BCR-ABL1 fusion transcripts due to lack of consensus approaches or standardization...
2017: Case Reports in Hematology
https://www.readbyqxmd.com/read/29109877/pax5-negative-classical-hodgkin-lymphoma-a-case-report-of-a-rare-entity-and-review-of-the-literature
#12
Elham Vali Betts, Denis M Dwyre, Huan-You Wang, Hooman H Rashidi
Classical Hodgkin lymphoma (CHL) is recognized as a B-cell neoplasm arising from germinal center or postgerminal center B-cells. The hallmark of CHL is the presence of CD30 (+) Hodgkin and Reed-Sternberg (HRS) cells with dim expression of PAX5. Nearly all of the HRS cells are positive for PAX5. However, a small minority of HRS cells may lack PAX5 expression, which can cause a diagnostic dilemma. Herein we describe two cases of PAX5-negative CHL and review of the English literature on this very rare entity. It is crucial to be aware of this phenomenon, which in some cases may lead to misdiagnosis and may ultimately adversely affect patient's management...
2017: Case Reports in Hematology
https://www.readbyqxmd.com/read/29098096/hbs-sicilian-%C3%AE-%C3%AE-0-thalassemia-a-rare-variant-of-sickle-cell
#13
Grace Onimoe, Genine Smarzo
Sickle cell disease (SCD) is caused by a mutation in the sixth codon of the β-globin gene on chromosome 11, which leads to a single amino acid substitution (glutamine to valine). Sickle-(δβ)0-thalassemia is a rare variant of sickle cell disease (delta-beta thalassemia occurring in association with sickle hemoglobin, HbS), sparsely reported in literature, and has been associated with symptomatology necessitating careful monitoring and follow-up. We describe a patient who presented with a newborn screen reported as "FS" and a negative family history for sickle cell disease and sickle cell trait...
2017: Case Reports in Hematology
https://www.readbyqxmd.com/read/29093977/heterozygous-hemoglobin-sherwood-forest-causing-polycythemia
#14
Vikram M Raghunathan, James N Butera, Diana O Treaba
Hemoglobin (Hb) Sherwood Forest is a rare high-affinity hemoglobin first described in 1977, arising from an Arg to Thr substitution at codon 104 of the beta chain. This hemoglobin variant has been identified in few individuals and has been associated with a compensatory erythrocytosis in the homozygous state. Prior scarce case reports have noted that heterozygotes for this variant are phenotypically normal. Here we present a patient who was evaluated in our hematology clinic for chronic erythrocytosis and was found to be heterozygous for Hb Sherwood Forest...
2017: Case Reports in Hematology
https://www.readbyqxmd.com/read/29090101/plasmablastic-lymphoma-case-report-of-prolonged-survival-of-an-advanced-human-immunodeficiency-patient-and-literature-review
#15
Hind Rafei, Ehab El-Bahesh, Antoine Finianos, Min-Ling L Liu, Geraldine P Schechter
Clinical Practice Points. Plasmablastic lymphoma (PBL) is a rare and highly aggressive variant of diffuse large B cell lymphoma with median survival of advanced stage patients varying between 6 and 15 months in previous reports. We report here a human immunodeficiency virus-infected patient surviving over 12 years following treatment for advanced PBL with EPOCH chemotherapy and intrathecal therapy. This case highlights the potential for improved survival in PBL with intensive chemotherapy. Further, literature review suggests promising prospects utilizing novel targeted therapies to increase the rate of prolonged responses...
2017: Case Reports in Hematology
https://www.readbyqxmd.com/read/29090100/polycythaemia-secondary-to-hormone-replacement-therapy-with-tibolone
#16
Laura Staples, Tamara Milder, Philip Young-Ill Choi
We present the case report of a patient with severe polycythaemia associated with tibolone. In our 65-year-old postmenopausal patient who initially presented with haemoglobin 203 g/L [115-160] and haematocrit 0.63 [0.32-0.47], the cessation of tibolone, a synthetic hormone replacement therapy, led to a dramatic and sustained resolution of this patient's polycythaemia to normal haematological values. Tibolone possesses oestrogenic, androgenic, and progestogenic properties. Tibolone therapy may be an infrequently recognized contributor towards polycythaemia in postmenopausal patients presenting to haematology clinics...
2017: Case Reports in Hematology
https://www.readbyqxmd.com/read/29085683/posttransplant-lymphoproliferative-disorder-in-a-patient-with-worsening-ascites-after-liver-transplantation
#17
Harsh D Patel, Moises I Nevah Rubin
Posttransplant lymphoproliferative disorder (PTLD) is a spectrum of diseases that involves abnormal lymphoid and/or plasmacytic proliferation in patients with solid organ or hematopoietic cell transplantation. It is a condition with a low incidence of 3.5-4.3% in liver transplant (LT) recipients. This case involves a 63-year-old male with history of LT for chronic HCV induced cirrhosis who presented with abdominal distension related to worsening ascites. Cytological ascitic fluid analysis revealed EBV (+) malignant cells without a malignant focal point on imaging...
2017: Case Reports in Hematology
https://www.readbyqxmd.com/read/29082051/primary-cutaneous-follicle-centre-lymphoma-with-hodgkin-and-reed-sternberg-like-cells-a-case-report-and-review-of-the-literature
#18
Fatima A Aldarweesh, Diana O Treaba
An elderly woman with a complex medical history presented with a left forearm mass that slowly developed for several months. The excisional biopsy of this skin mass was remarkable for involvement by a follicle centre cell derived lymphoma with a nodular and diffuse pattern associated with a subset of scattered Hodgkin and Reed-Sternberg like cells. Fluorescence in situ hybridization studies did not detect the presence of IgH-bcl2 fusion transcript, and molecular studies were negative for immunoglobulin heavy chain gene rearrangements and EBV DNA sequences...
2017: Case Reports in Hematology
https://www.readbyqxmd.com/read/29082050/a-case-of-rituximab-induced-necrotizing-fasciitis-and-a-review-of-the-literature
#19
Abdullateef Abdulkareem, Ryan S D'Souza, Oluwaseun Shogbesan, Anthony Donato
Necrotizing fasciitis is a fulminant soft tissue infection characterized by rapid progression and high mortality. Rituximab is a generally well-tolerated immunosuppresive medication used for B-cell malignancies and some rheumatological disorders. We report a case of a 69-year-old male with chronic lymphocytic leukemia who suffered necrotizing fasciitis of his left lower extremity secondary to Clostridium septicum 7 weeks after treatment with rituximab. Despite immediate intravenous antimicrobial therapy and emergent fasciotomy with extensive debridement, his hospital course was complicated by septic shock and he required an above-the-knee amputation...
2017: Case Reports in Hematology
https://www.readbyqxmd.com/read/29075538/an-unsuspected-finding-of-t-9-22-a-rare-case-of-philadelphia-chromosome-positive-b-lymphoblastic-lymphoma
#20
Prajwal Boddu, C Cameron Yin, Rashmi Kanagal-Shamanna, Guillin Tang, Beenu Thakral, Tapan Kadia, Marina Konopleva, Elias Jabbour, Nitin Jain
While rare, cases of isolated extramedullary disease of B-cell Lymphoblastic Lymphoma (B-LBL) without morphologic bone marrow involvement have been described. In this report, we illustrate the case of an elderly gentleman who presented with isolated testicular and vertebral LBL involvement but had no morphologic bone marrow involvement. The initial plan of treatment was to treat along the lines of Philadelphia negative B-ALL/LBL. During this time, fluorescence in situ hybridization (FISH) and PCR testing for BCR-ABL1 rearrangements were being performed on the marrow specimens as a part of routine diagnostic workup...
2017: Case Reports in Hematology
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