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Case Reports in Hematology

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https://www.readbyqxmd.com/read/29430310/morphological-transformation-of-myeloma-cells-into-multilobated-plasma-cell-nuclei-within-7-days-in-a-case-of-secondary-plasma-cell-leukemia-that-finally-transformed-as-anaplastic-myeloma
#1
Akihito Fujimi, Yasuhiro Nagamachi, Naofumi Yamauchi, Yuji Kanisawa
A 48-year-old man was diagnosed with multiple myeloma (IgG-k) and was treated with high-dose dexamethasone as an induction therapy followed by thalidomide-based regimens. Approximately 22 months after the initial diagnosis, the patient developed secondary plasma cell leukemia (PCL) with a white blood cell (WBC) count of 20.2 × 10 9 /L including 79.5% plasma cells. A G-banding chromosomal analysis in the bone marrow showed an t(11;14) abnormality of up to 5%, which was not detected at initial diagnosis. We immediately started bortezomib and dexamethasone therapy, but in just 7 days, the WBC count elevated to 48...
2017: Case Reports in Hematology
https://www.readbyqxmd.com/read/29410924/peripheral-t-cell-lymphoma-of-the-submandibular-salivary-gland-as-an-unusual-manifestation-of-richter-s-syndrome-a-case-report-and-literature-review
#2
Vadim R Gorodetskiy, Natalya A Probatova, Tatiana T Kondratieva
Richter's syndrome is the development of high-grade non-Hodgkin lymphoma (NHL) or Hodgkin lymphoma in patients with chronic lymphocytic leukemia (CLL)/small lymphocytic lymphoma (SLL). In most patients with Richter's syndrome, the high-grade NHL is diffuse large B-cell lymphoma. Only a small minority of CLL/SLL patients develop T-cell malignancies. Herein, we describe a 40-year-old male patient presenting with peripheral T-cell lymphoma not otherwise specified (PTCL-NOS) in the submandibular salivary gland, two years after the diagnosis of CLL/SLL...
2017: Case Reports in Hematology
https://www.readbyqxmd.com/read/29391957/sequential-use-of-second-generation-tyrosine-kinase-inhibitor-treatment-and-intensive-chemotherapy-induced-long-term-complete-molecular-response-in-imatinib-resistant-cml-patient-presenting-as-a-myeloid-blast-crisis
#3
Masaaki Tsuji, Tatsuki Uchiyama, Chisaki Mizumoto, Tomoharu Takeoka, Kenjiro Tomo, Tatsuharu Ohno
Myeloid blast crisis of chronic myeloid leukemia (CML-MBC) is rarely seen at presentation and has a poor prognosis. There is no standard therapy for CML-MBC. It is often difficult to distinguish CML-MBC from acute myeloid leukemia expressing the Philadelphia chromosome (Ph+ AML). We present a case in which CML-MBC was seen at the initial presentation in a 75-year-old male. He was treated with conventional AML-directed chemotherapy followed by imatinib mesylate monotherapy, which failed to induce response. However, he achieved long-term complete molecular response after combination therapy involving dasatinib, a second-generation tyrosine kinase inhibitor, and conventional chemotherapy...
2017: Case Reports in Hematology
https://www.readbyqxmd.com/read/29387499/sickle-cell-beta-plus-thalassemia-with-subcapsular-hematoma-of-the-spleen
#4
Suyash Dahal, Sumit Dahal, Dipesh K C Ghimire, Ebad Ur Rahman, Eliza Sharma
While splenic complications like hypersplenism, sequestration crisis, and infarction are commonly reported in sickle cell variants like sickle cell beta-plus thalassemia, splenic rupture with hematoma is rare. We present a case of a 32-year-old young male who presented with dull left upper quadrant pain who was found to have multiple subcapsular splenic lacerations and hematoma on abdominal imaging. Hemoglobin electrophoresis confirmed sickle cell beta-plus thalassemia in the patient. There was no history of trauma, and rest of the workup for possible cause of spontaneous rupture of spleen was negative...
2017: Case Reports in Hematology
https://www.readbyqxmd.com/read/29387498/plasmablastic-lymphoma-with-coexistence-of-chronic-lymphocytic-leukemia-in-an-immunocompetent-patient-a-case-report-and-mini-review
#5
Eleftheria Hatzimichael, Konstantina Papathanasiou, Ioannis Zerdes, Stefanos Flindris, Alexandra Papoudou-Bai, Eleni Kapsali
Background: Plasmablastic lymphoma (PBL) is a rare, aggressive B-cell lymphoma with poor prognosis usually found in the oral cavity of HIV-positive patients. Chronic lymphocytic leukemia (CLL) is an indolent B-cell lymphoma with a variable clinical course. Transformation of CLL to PBL as Richter's syndrome is rare while coexistence of CLL and PBL at diagnosis is even rarer. Case Report: We describe a case of a male immunocompetent patient with an ileum-cecum valve mass and a soft tissue mass at the left humerus with histologic evidence of PBL with coexistence of CLL in the bone marrow and peripheral blood...
2017: Case Reports in Hematology
https://www.readbyqxmd.com/read/29375916/late-emergence-of-an-imatinib-resistant-abl1-kinase-domain-mutation-in-a-patient-with-chronic-myeloid-leukemia
#6
Mireille Crampe, Claire Andrews, Anne Fortune, Stephen E Langabeer
The introduction of the tyrosine kinase inhibitor (TKI) imatinib has revolutionised the outlook of chronic myeloid leukemia (CML); however, a significant proportion of patients develop resistance through several mechanisms, of which acquisition of ABL1 kinase domain mutations is prevalent. In chronic-phase patients, these mutations become evident early in the disease course. A case is described of a chronic-phase CML patient who achieved a sustained, deep molecular response but who developed an Y253H ABL1 kinase domain mutation nearly nine years after commencing imatinib...
2017: Case Reports in Hematology
https://www.readbyqxmd.com/read/29225979/waldenstrom-s-macroglobulinemia-a-report-of-two-cases-one-with-severe-retinopathy-and-one-with-renal-failure
#7
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
#8
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
#9
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
#10
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
#11
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
#12
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
#13
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
#14
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
#15
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
#16
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
#17
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
#18
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
#19
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
#20
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
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