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The American Journal of Case Reports Apr 2024BACKGROUND Intravascular large B-cell lymphoma (IVLBCL) is a rare extranodal large B-cell lymphoma characterized by the selective growth of lymphoma cells within...
BACKGROUND Intravascular large B-cell lymphoma (IVLBCL) is a rare extranodal large B-cell lymphoma characterized by the selective growth of lymphoma cells within vasculature. This presents a diagnostic challenge due to non-specific symptoms and lack of tumor formation. 18F-fluorodeoxyglucose positron emission tomography/computed tomography (FDG PET/CT) provides useful information in diagnosing FDG-avid lymphoma, but is not specific to IVLBCL. Contrast-enhanced ultrasonography (CEUS) is useful in evaluating focal liver lesions; however, its efficacy in diagnosing IVLBCL involving the liver remains unknown. CASE REPORT We report the case of an 83-year-old woman presenting with fever, pancytopenia, liver dysfunction, and elevated LD and soluble interleukin-2 receptor levels. PET-CT showed multiple uptake lesions in the liver. We performed CEUS with Sonazoid® to evaluate the mass-like lesions; however, no nodular lesions were observed in B mode images. Systemic enhancement was seen in the early phase but no defect was observed in the post-vascular phase. The latter finding suggested preserved Kupffer cells function, excluding tumor-forming lymphoma and liver metastases. Suspecting IVLBCL, we performed a bone marrow examination, which showed sinusoidal infiltration of large neoplastic cells positive for CD20. The patient's condition deteriorated rapidly and she died 2 days after the examination. Autopsy revealed diffuse infiltration of lymphoma cells into liver sinusoids with preserved Kupffer cells, leading to the diagnosis of IVLBCL. CONCLUSIONS Our case shows that CEUS can distinguish IVLBCL from mass-forming lymphoma based on the absence of a defect in the post-vascular phase in a patient with clinically and radiographically suspected lymphoma involving the liver. This can assist clinicians to select appropriate lesions for biopsy.
Topics: Humans; Female; Aged, 80 and over; Lymphoma, Large B-Cell, Diffuse; Contrast Media; Liver Neoplasms; Ultrasonography; Positron Emission Tomography Computed Tomography; Ferric Compounds; Vascular Neoplasms; Iron; Oxides
PubMed: 38678318
DOI: 10.12659/AJCR.943070 -
Current Oncology (Toronto, Ont.) Apr 2024Maintenance chemotherapy is a standard treatment in patients with non-progressive advance staged IV non-squamous non-small cell lung cancer after induction therapy....
Maintenance chemotherapy is a standard treatment in patients with non-progressive advance staged IV non-squamous non-small cell lung cancer after induction therapy. Here, we report the case of a 53-year-old man undergoing a maintenance monotherapy with pemetrexed who presented prolonged pancytopenia despite filgrastim injections. A bone marrow aspiration revealed a macrophage activation syndrome with amastigotes. A Polymerase Chest Reaction testing confirmed the diagnosis of visceral leishmaniasis. Treatment with liposomal amphotericin B was started. Oncologists should bear in mind that visceral leishmaniasis in endemic areas can potentially induce severe and prolonged pancytopenia in immunosuppressed patients, during chemotherapy in particular.
Topics: Humans; Pancytopenia; Leishmaniasis, Visceral; Male; Middle Aged; Lung Neoplasms; Carcinoma, Non-Small-Cell Lung; Diagnosis, Differential; Pemetrexed; Antineoplastic Agents; Antiprotozoal Agents; Amphotericin B
PubMed: 38668071
DOI: 10.3390/curroncol31040168 -
Zhongguo Dang Dai Er Ke Za Zhi =... Apr 2024The first patient, a 10-year-old girl, presented with pancytopenia and recurrent epistaxis, along with a history of repeated upper respiratory infections, café-au-lait...
The first patient, a 10-year-old girl, presented with pancytopenia and recurrent epistaxis, along with a history of repeated upper respiratory infections, café-au-lait spots, and microcephaly. Genetic testing revealed compound heterozygous mutations in the DNA ligase IV () gene, leading to a diagnosis of LIG4 syndrome. The second patient, a 6-year-old girl, was seen for persistent thrombocytopenia lasting over two years and was noted to have short stature, hyperpigmented skin, and hand malformations. She had a positive result from chromosome breakage test. She was diagnosed with Fanconi anemia complementation group A. Despite similar clinical presentations, the two children were diagnosed with different disorders, suggesting that children with hemocytopenia and malformations should not only be evaluated for hematological diseases but also be screened for other potential underlying conditions such as immune system disorders.
Topics: Humans; Female; Child; Abnormalities, Multiple; Pancytopenia; DNA Ligase ATP; Thrombocytopenia; Cytopenia
PubMed: 38660906
DOI: 10.7499/j.issn.1008-8830.2311058 -
World Journal of Clinical Cases Apr 2024Splenic hamartomas (SHs) are uncommon, benign vascular lesions of unclear etiology and are mostly found incidentally on abdominal images, at surgery, or at autopsy.... (Review)
Review
Splenic hamartomas (SHs) are uncommon, benign vascular lesions of unclear etiology and are mostly found incidentally on abdominal images, at surgery, or at autopsy. Since the first case description, in 1861, less than 50 pediatric SH cases have been reported in the literature. In this article, we have performed an analysis of all SH cases in children published in the literature to date and presented our case of an 8-year-old male with SH. These lesions in children were shown to cause symptoms more often than in the adult population. The observed SH sizes in children ranged from a few millimeters to 18 cm, and the symptomatic lesions were mostly larger or multiple. The most common clinical finding was splenomegaly. Signs of hypersplenism were present in children with a single SH larger than 4.5 cm (diameter range: 4.5-18.0 cm) and in those with multiple hamartomas, ranging from a few millimeters to 5 cm. Eighty percent of patients with available laboratory findings had hematological abnormalities such as anemia, thrombocytopenia, or pancytopenia. Other symptoms and signs included abdominal pain, recurrent infections, fever, night sweats, lethargy, growth retardation, and weight loss. The use of multiple imaging modalities may suggest the preoperative diagnosis of a splenic mass in children and determine the therapeutic approach. However, the final diagnosis of SH relies on histopathological evaluation. Surgery, including total or partial splenectomy (PS), is the mainstay of SH management. Although total splenectomy carries a greater risk of overwhelming post-splenectomy infection than PS it has remained the most performed surgical procedure in children with SH. In the majority of pediatric patients with symptomatic SH, resolution of symptoms and resolution or improvement of cytopenias occurred after surgical treatment.
PubMed: 38660549
DOI: 10.12998/wjcc.v12.i11.1909 -
Respiratory Medicine Case Reports 2024A 59-year-old previously healthy woman presented with a six-month history of fever, nonproductive cough, and weight loss. The cause of these symptoms remained obscure...
A 59-year-old previously healthy woman presented with a six-month history of fever, nonproductive cough, and weight loss. The cause of these symptoms remained obscure despite a thorough, month-long hospitalization. On presentation, she was normotensive with a pulse of 98 beats/minute, respiratory rate of 20 breaths/minute, and a temperature of 39.4C. She was emaciated. Physical examination was notable for faint bibasilar crackles on lung auscultation. Initial laboratory testing revealed pancytopenia. Peripheral smear demonstrated normocytic, normochromic anemia without immature cells or schistocytes. Other notable laboratory findings included elevated levels of lactate dehydrogenase, elevated ferritin, and elevated levels of fasting serum triglycerides. A comprehensive laboratory evaluation for connective tissue disease was negative. Plain chest radiography was normal while computed tomography (CT) of the chest demonstrated sub-centimeter nodules in a branching centrilobular pattern as well as in a peri-lymphatic distribution without associated lymphadenopathy or organomegaly. The above constellation of laboratory abnormalities raised concern for hemophagocytic lymphohistiocytosis (HLH). Soluble IL-2 (CD25) receptor levels were markedly elevated. Bronchoscopy with transbronchial biopsies of the right lower lobe was performed, revealing intravascular lymphoma associated with HLH. Our case emphasizes the need for clinicians to consider vascular causes of tree - in-bud nodules in addition to the conventional bronchiolar causes. The case also is a reminder of the need to conduct an exhaustive search for malignancy, in patients with HLH.
PubMed: 38659648
DOI: 10.1016/j.rmcr.2024.102020 -
Clinical Case Reports Apr 2024Care must be taken to mitigate the effect of cognitive bias in times of frequent common presentations. The etiology of bicytopenias and pancytopenias must always be...
Care must be taken to mitigate the effect of cognitive bias in times of frequent common presentations. The etiology of bicytopenias and pancytopenias must always be carefully investigated. Blast cells in low count B ALL may not be seen on a peripheral smear and diagnosis often requires confirmational bone marrow aspirate with flow cytometry and molecular typing.
PubMed: 38659496
DOI: 10.1002/ccr3.8800 -
Experimental Hematology Jun 2024SAMD9 and SAMD9L are two interferon-regulated genes located adjacent to each other on chromosome 7q21.2. Germline gain-of-function (GL GOF) mutations in SAMD9/SAMD9L are... (Review)
Review
SAMD9 and SAMD9L are two interferon-regulated genes located adjacent to each other on chromosome 7q21.2. Germline gain-of-function (GL GOF) mutations in SAMD9/SAMD9L are the genetic cause of MIRAGE syndrome, ataxia-pancytopenia (ATXPC) syndrome, myeloid leukemia syndrome with monosomy 7 (MLSM7), refractory cytopenia of childhood (RCC), transient monosomy 7 in children, SAMD9L-associated autoinflammatory disease (SAAD), and a proportion of inherited aplastic anemia and bone marrow failure syndromes. The myeloid neoplasms associated with GL GOF SAMD9/SAMD9L mutations have been included in the World Health Organization (WHO) 2022 classification. The discovery of SAMD9/SAMD9L-related diseases has revealed some interesting pathobiological mechanisms, such as a high rate of primary somatic compensation, with one of the mechanisms being (transient) monosomy 7 a mechanism also described as "adaption by aneuploidy." The somatic compensation in the blood can complicate the diagnosis of SAMD9/SAMD9L-related disease when relying on hematopoietic tissues for diagnosis. Recently, GL loss-of function (LOF) mutations have been identified in older individuals with myeloid malignancies in accordance with a mouse model of SAMD9L loss that develops a myelodysplastic syndrome (MDS)-like disease late in life. The discovery of SAMD9/SAMD9L-associated syndromes has resulted in a deeper understanding of the genetics and biology of diseases/syndromes that were previously oblivious and thought to be unrelated to each other. Besides giving an overview of the literature, this review wants to also provide some practical guidance for the classification of SAMD9/SAMD9L variants that is complicated by the nonrecurrent nature of these mutations but also by the fact that both GL GOF, as well as loss-of-function mutations, have been identified.
Topics: Humans; Chromosomes, Human, Pair 7; Myelodysplastic Syndromes; Chromosome Deletion; Animals; Intracellular Signaling Peptides and Proteins; Tumor Suppressor Proteins
PubMed: 38649131
DOI: 10.1016/j.exphem.2024.104217 -
Surgical Case Reports Apr 2024Spontaneous clearance of chronic hepatitis C virus (HCV) is rare in adults. A T-lymphocyte response is thought to be involved in HCV-RNA clearance. Splenectomy...
BACKGROUND
Spontaneous clearance of chronic hepatitis C virus (HCV) is rare in adults. A T-lymphocyte response is thought to be involved in HCV-RNA clearance. Splenectomy reportedly has a beneficial effect on T cell immune function in patients with cirrhosis. To the best of our knowledge, the present report is the first to describe spontaneous clearance of serum HCV-RNA within 1 year after splenectomy in a patient with cirrhosis.
CASE PRESENTATION
A 55-year-old man with HCV cirrhosis was transferred to our institution with advanced pancytopenia, splenomegaly, and gastric varices. He had a 1-year history of ascites, edema, and general fatigue. The patient had a Child-Pugh score of 8 and serological type 1 HCV; the HCV-RNA level was 4.7 log IU/mL. Contrast-enhanced computed tomography showed gastric varices and marked splenomegaly (estimated spleen volume of 2175 mL). Esophagogastroduodenoscopy revealed enlarged gastric varices with no red color sign, and the varices were larger than those 1 year prior. He was diagnosed with decompensated HCV-related liver cirrhosis and portal hypertension. We considered direct-acting antiviral (DAA) therapy; however, DAA therapy was not approved in Japan for patients with decompensated cirrhosis at that time. Hand-assisted laparoscopic splenectomy was performed to improve the worsening portal hypertension. Further, we planned the initiation of DAA therapy after surgery, when such therapy would become available. DAA therapy was approved 1 year after splenectomy. At that time, we measured the HCV-RNA level before the initiation of DAA therapy; unexpectedly, however, serum HCV-RNA was not detectable, and the virus continued to disappear during the following 4 years. His liver function (total bilirubin, albumin, and prothrombin time) and pancytopenia improved during the 5 years postoperatively. The serum aspartate and alanine aminotransferase levels normalized between 1 and 5 years postoperatively. Esophagogastroduodenoscopy showed no change in the gastric varices during the 5 years after surgery. The patient remained asymptomatic and continued to do well.
CONCLUSIONS
We have presented a case of spontaneous clearance of HCV-RNA after splenectomy in a patient with cirrhosis and portal hypertension. Splenectomy may be associated with disappearance of HCV-RNA based on previous reports. More cases should be accumulated and evaluated.
PubMed: 38647617
DOI: 10.1186/s40792-024-01899-6 -
Indian Journal of Nephrology 2024Hemophagocytic lymphohistiocytosis (HLH) is a rare, life-threatening condition due to extensive and uncontrolled immune activation. There is sparse literature on HLH in...
Hemophagocytic lymphohistiocytosis (HLH) is a rare, life-threatening condition due to extensive and uncontrolled immune activation. There is sparse literature on HLH in kidney transplant recipients. We report a case of a 27-year -old male kidney transplant recipient who presented with dengue fever and acute allograft dysfunction. Following improvement in allograft function with supportive treatment, he was found to have worsening pancytopenia with unusually high serum ferritin levels. Bone marrow aspiration performed for pancytopenia revealed hemophagocytosis. A diagnosis of HLH secondary to dengue viral infection was made based on the modified HLH diagnostic criteria (2009). He received supportive treatment and steroids and was discharged in a stable condition with normal kidney allograft functions. To our knowledge, this is the first case report of HLH secondary to dengue viral infection in a kidney allograft recipient managed successfully with timely diagnosis and appropriate treatment.
PubMed: 38645905
DOI: 10.4103/ijn.ijn_252_22 -
Journal of Hematology Apr 2024Hepatosplenic T-cell lymphoma (HSTCL) is rare and clinically very aggressive T-cell lymphoma. The majority of cases harbor γδ T-cell receptors (TCRs); however, in some...
Hepatosplenic T-cell lymphoma (HSTCL) is rare and clinically very aggressive T-cell lymphoma. The majority of cases harbor γδ T-cell receptors (TCRs); however, in some even rarer cases, tumor cells harbor αβ TCR. Recent studies suggest that αβ cases may have distinct morphological characteristics and demonstrate an even more aggressive course. In this case report, we demonstrated that in line with previous findings, αβ case of HSTCL had hemolytic presentation, demonstrated a very aggressive clinical course, and was unrelated to immunosuppression. Morphologically, tumor cells demonstrated diffuse growth pattern, blastoid morphology, and were CD8 positive on the background of CD4 small to medium reactive T cells. Additionally, the liver tumor cells demonstrated periportal localization, and in bone marrow, evidence of emperipolesis was noted. The latter finding may significantly contribute to pancytopenia characteristic, all types of HSTCL. Those unusual morphologic and clinical characteristics make diagnosis of this rare subtype of rare disease very challenging. More case analysis is required to establish whether αβ/γδ HSTCL are prognostically or morphologically significantly distinct entities.
PubMed: 38644989
DOI: 10.14740/jh1203