We describe a case of late relapse of Philadelphia-like acute lymphoblastic leukemia. The patient relapsed several years from diagnosis and responded to second salvage treatment. The case highlights the open questions regarding management of Philadelphia-like acute lymphoblastic leukemia.

Gaurav Shah

Fady M. Mikhail

Andrew J. Carroll

Matthew Kutny

Nikolaos Papadantonakis

Relapse after Prolonged Remission in Philadelphia-Like Acute Lymphoblastic Leukemia

Somatic mutations in CALR gene have been reported in 60%–88% of patients with essential thrombocythemia (ET) and primary myelofibrosis (PMF) who are negative for JAK2 and MPL mutations. Most of the CALR mutations analyzed to date are heterozygous mutations in exon 9 of the gene. Homozygosity in CALR gene is rarely reported, and its association with clinical behavior of disease and impact on outcome of patients is not studied so far. We herein report a case of intermediate-2 risk PMF (according to IPSS) diagnosed with homozygous mutation (c.1139delA p.E380fs<svg xmlns:xlink="http://www.w3.org/1999/xlink" xmlns="http://www.w3.org/2000/svg" style="vertical-align:-0.04990005pt" id="M1" height="10.1524pt" version="1.1" viewBox="-0.0498162 -10.1025 6.17869 10.1524" width="6.17869pt"><g transform="matrix(.0091,0,0,-0.0091,0,-5.741)"><path id="g50-43" d="M486 158C486 177 478 202 466 220C413 228 386 236 336 262C386 288 413 297 466 304C478 323 486 347 485 366C470 376 444 381 422 380C389 338 368 319 321 288C323 345 329 372 349 422C339 442 322 461 305 470C289 461 271 442 262 422C281 372 287 345 290 288C243 319 222 338 189 380C167 381 142 376 125 366C125 347 133 322 145 304C198 296 225 288 275 262C225 236 198 227 145 220C133 201 125 177 126 158C141 148 167 143 189 144C222 186 243 205 290 236C288 179 282 152 262 102C272 82 289 63 306 54C322 63 340 82 350 102C330 152 324 179 321 236C368 205 390 186 422 144C444 143 470 148 486 158Z"/></g></svg>50) in CALR gene having severe disease manifestations at presentation.

Qurratulain Rizvi

Uzma Zaidi

Saba Shahid

Shariq Ahmed

Tahir Shamsi

Homozygous CALR Mutation in Primary Myelofibrosis and Its Effect on Disease Phenotype: A Case Report and Review of the Literature

Here we report a case of atypical thrombotic thrombocytopenic purpura that presented as an ischemic cerebrovascular accident. A 56-year-old man with multiple cardiovascular risk factors presented with sudden left-sided weakness, slurred speech, and left facial droop. He showed mild improvement when he was treated with thrombolytic therapy according to the hospital stroke protocol. Later in the course, he developed thrombocytopenia followed by schistocytes revealed by peripheral blood smear and other lab abnormalities. Thrombotic thrombocytopenic purpura (TTP) was suspected, and he was treated with total plasma exchange that improved his condition significantly. This case shows that TTP can have unusual and atypical presentations either with the first episode or upon relapse, making diagnosis extremely difficult. Because patients may not present the expected clinical findings, it is important to be aware of variant presentations. In the early stages of the disease, platelet aggregation and thrombus formation may not be widespread, and thrombocytopenia and microangiopathic hemolytic anemia may not be clinically evident. Patients can present soon after the onset of symptoms when the typical laboratory abnormalities may not have had ample time to manifest. Although most other similar cases in the literature had a previous typical presentation of the disease before an atypical presentation, our patient&#x2019;s first presentation was atypical. An atypical presentation of disease in a patient with cardiovascular risk factors may therefore be extremely difficult to diagnose. We believe that TTP should be considered for any patient presenting with stroke and thrombocytopenia.

Pradeepthi Badugu

Modupe Idowu

Atypical Thrombotic Thrombocytopenic Purpura Presenting as Stroke

Internal watershed infarcts (WI) involve white matter between deep and superficial arterial systems of middle cerebral artery. These infarcts are considered to be either from low blood flow or microembolism. Anemia is an extremely rare cause of watershed infarcts. Very few cases of hemolytic anemia causing watershed cerebral infarcts have been reported. Chronic lymphocytic leukemia (CLL) is frequently complicated with secondary autoimmune cytopenia such as autoimmune hemolytic anemia (AIHA), immune thrombocytopenia (ITP), and pure red cell aplasia. AIHA is present in about 7&#x2013;10&#x0025; of patients with CLL. AIHA from CLL presenting as WI is an extremely rare phenomenon with no previously published case reports to the best of our knowledge.

Mridul Gupta

Divita Singh

Patrick Lee

Sandhya Kadiyam

Chronic Lymphocytic Leukemia Presenting as a Subcortical Watershed Infarct

Bone marrow abnormalities in SLE are now becoming increasingly recognized, suggesting that the bone marrow may also be an important site of target organ damage. In this study, we present a rare case of concurrent autoimmune hemophagocytic syndrome and autoimmune myelofibrosis, potentially life-threatening conditions, in a newly diagnosed SLE patient. We report a case of a 30-year-old Filipino woman who presented with a one-year history of fever, constitutional symptoms, exertional dyspnea, joint pains, and alopecia and physical examination findings of fever, facial flushing, cervical lymphadenopathies, and knee joint effusions. Laboratory workup revealed pancytopenia with leukoerythroblastosis, elevated ESR, increased serum levels of transaminases, elevated CRP and LDH, hyperferritinemia, hypertriglyceridemia, proteinuria, hepatomegaly, and positive antinuclear antibody. Bone marrow aspiration and trephine biopsy revealed hemophagocytosis and moderate myelofibrosis. The patient was diagnosed with SLE with concomitant autoimmune-associated hemophagocytic syndrome and autoimmune myelofibrosis. Treatment with high-dose corticosteroids led to dramatic clinical improvement with normalization of laboratory data and complete resolution of bone marrow hemophagocytosis and myelofibrosis. Hemophagocytosis and myelofibrosis, although uncommon, are possible initial manifestations of SLE and should be included in the differential diagnosis of cytopenias in SLE. Thorough clinical assessment and microscopic bone marrow examination and timely initiation of corticosteroid therapy are essential in the diagnosis and management of these potentially life-threatening conditions. This case emphasizes that the bone marrow is an important site of target organ damage in SLE, and evaluation of cytopenias in SLE should take this into consideration.

Deonne Thaddeus V. Gauiran

Paula Victoria Catherine Y. Cheng

Christopher Ryan P. Pagaduan

Maria Clariza M. Santos

Autoimmune-Associated Hemophagocytosis and Myelofibrosis in a Newly Diagnosed Lupus Patient: Case Report and Literature Review

Objective. To report a case of false-negative serological tests in the diagnosis of heparin-induced thrombocytopenia (HIT) followed by a brief review of the literature on this topic. Case Presentation. A 75-year-old Caucasian female patient was admitted with a traumatic right ankle fracture that required open reduction and internal fixation. Despite postoperative subcutaneous heparin chemoprophylaxis, she developed deep vein thrombosis (DVT) and pulmonary embolism (PE) on day 4 and subsequently started on continuous heparin infusion. On day 5, she suffered a stroke from a complete occlusion of the right common carotid artery with tandem occlusion of the right middle cerebral artery. She underwent successful thrombectomy of both arteries. The proposed stroke mechanism was paradoxical embolism through a patent foramen ovale. Over the next few days, thrombocytopenia was noted, the heparin drip was stopped, and HIT antibodies (antibodies targeting the complex of platelet factor 4 and heparin; PF4-H AB) and serotonin release assay (SRA) tests were sent. Because of the suspicion for HIT, she was started on bivalirudin with subsequent improvement in platelet count. Initial PF4-H AB and SRA tests were negative, bivalirudin was stopped, and heparin was restarted. Subsequently, her platelets trended down, again raising clinical suspicion of HIT. Repeat PF4-H AB and SRA testing resulted positive. Conclusions. A positive SRA in the appropriate context is considered for the diagnosis of heparin-induced thrombocytopenia. This case report highlights that false-negative serological evaluation is possible early in the course of the disease. Repeat testing is recommended in patients with high clinical suspicion.

Tarig Omer

Naresh Mullaguri

Pravin George

Christopher R. Newey

False-Negative Platelet Factor 4 Antibodies and Serotonin Release Assay and the Utility of Repeat Testing in the Diagnosis of Heparin-Induced Thrombocytopenia and Thrombosis

Ruxolitinib is increasingly being utilized for the treatment of myelofibrosis and polycythemia vera, but the potential for hepatic toxicity is poorly understood. We performed a retrospective review of hepatic damage occurring in patients with myeloproliferative neoplasms receiving ruxolitinib. Relevant histologic images of liver biopsies were reviewed by an experienced liver pathologist and reported to a multidisciplinary team including hepatology and hematology. A variety of liver pathology was observed including extramedullary hematopoiesis, obliterative portal venopathy, and drug-induced liver injury. In all cases reviewed, the liver biopsy had significant treatment implications. We conclude that hepatology referral and liver biopsy in patients receiving ruxolitinib therapy with biochemical evidence of liver injury reveals a variety of etiologies which have significant treatment impact. Clinicians should be aware of the potential causes of liver damage in this population and initiate prompt referral and liver biopsy.

Douglas Tremblay

Juan Putra

Alexander Vogel

Adam Winters

Ronald Hoffman

Thomas D. Schiano

Maria Isabel Fiel

John O. Mascarenhas

The Implications of Liver Biopsy Results in Patients with Myeloproliferative Neoplasms Being Treated with Ruxolitinib

A 38-year-old woman with aggressive clinical course of chronic lymphocytic leukemia (CLL) was treated with 8 courses of R-CHOP. Clinical remission was achieved, while B-cell clonality remained. Allogeneic hematopoietic stem cell transplantation was performed with reduced intensity conditioning (fludarabine and 2-Gy total body irradiation). However, autologous hematopoietic recovery occurred within a month after the transplant. Nevertheless, B-cell clonality became undetectable at 14 days after transplant, which has been kept so for over 10 years with clinical remission. Cytogenetic analyses were repeatedly performed and demonstrated nonclonal chromosomal aberrations, although the patient did not develop any secondary malignancies. One possible explanation for the clinical course is a very short-term allogeneic immune reaction helping eradication of residual CLL cells.

Hidekazu Nishikii

Naoki Kurita

Atsushi Shinagawa

Tatsuhiro Sakamoto

Manabu Kusakabe

Yasuhisa Yokoyama

Takayasu Kato

Mamiko Sakata-Yanagimoto

Naoshi Obara

Yuichi Hasegawa

Naoya Nakamura

Shigeru Chiba

Durable Leukemic Remission and Autologous Marrow Recovery with Random Chromosomal Abnormalities after Allogeneic Hematopoietic Stem Cell Transplantation for Chronic Lymphocytic Leukemia

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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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Case Reports in Hematology - Table of contents 2019

title

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.

Case Reports in Hematology