Extraosseous Ewing Sarcoma in a 28-Year-Old Male: A Case Report and Literature Review.

Ewing sarcoma (ES) is an uncommon and highly aggressive bone malignancy that predominantly occurs in children and young adults. Extraosseous Ewing sarcoma (EES), an even rarer variant, can present in the soft tissues instead of bone. In this case report, we detail a previously healthy 28-year-old male presenting with an isolated enlarged left inguinal lymph node, subsequently diagnosed as EES. The patient presented with a three-month history of a non-tender, gradually enlarging lump in the left groin. Fine needle aspiration revealed a small round blue cell tumor with a high Ki-67 score, and subsequent excisional biopsy identified a rare genetic fusion mutation. Postoperative positron emission tomography (PET)/computed tomography (CT) scan did not show any fludeoxyglucose F18 (FDG) uptake lesions to suggest residual malignancy. The patient is currently awaiting chemotherapy. Throughout the discussion of this case, we highlight the importance of considering EES in the differential diagnosis of isolated lymph node enlargement, the role of genetic testing in diagnosis, and the treatment modalities offered.

Bilateral Acute Proptosis With Papilledema and Sub-retinal Fluid As Initial Manifestations of Acute Lymphoblastic Leukemia in a Child.

A five-year-old boy presented with bilateral acute proptosis, papilledema, and sub-retinal fluid. Notably, choroidal thickening exceeded 600 microns. These ocular findings were the initial manifestations of acute lymphoblastic leukemia. This case underscores the importance of recognizing uncommon ocular presentations in pediatric leukemia for timely diagnosis and management.

Prospective validation of the nutrition screening tool for childhood cancer (SCAN).

BACKGROUND & AIMS: Different nutritional screening tools have been proposed in childhood cancer, but none has shown convincing predictive capacity so far. The "nutrition screening tool for childhood cancer (SCAN)" has been specifically designed for this population and provides an easy-to-use, promising approach to identify patients at risk of malnutrition. We aim to: 1. Validate the SCAN tool prospectively in identifying malnourished patients or those who required nutritional support 2. Validate the SCAN tool prospectively in predicting toxicities or outcome. 3. Compare performance of a pediatric screening tool (STRONGKIDS) with SCAN. METHODS: Children in our center with a new diagnosis of cancer from August 2018 to May 2019 were offered to participate in the study. Measurements (SCAN questionnaire, weight, height, body-mass index (BMI), and mid upper-arm circumference (MUAC)) were taken at diagnosis and at regular intervals throughout therapy. The last measurement was taken 6 months after finishing the intensive treatment phase. SCAN score at diagnosis was validated prospectively against variables of interest. RESULTS: A total of 49 patients were recruited. When considering malnutrition during therapy the SCAN tool showed a sensitivity of 37.5% and negative predictive value (NPV) of 81%. Patients who required nutritional support were identified with a sensitivity of 50% and NPV of 62%. The SCAN tool was not able to predict increased toxicities, risk of relapse or decreased survival. The pediatric screening tool STRONGKIDS was unable to discriminate nutritional risk and labeled all 49 patients (100%) as medium or high-risk. Applying SCAN periodically during therapy increased sensitivity for identifying malnutrition to 87.5%. CONCLUSIONS: In our study, applying the SCAN tool at diagnosis showed low sensitivity in identifying patients who go on to develop malnutrition during therapy. However, patients labeled as "not at risk" were unlikely to need nutritional support in the form of nasogastric tube or total parenteral nutrition. Using SCAN throughout therapy could be helpful in building awareness for malnutrition and successfully discriminates between patients who need further support and those who don't.

Lipoblastoma-Related Volvulus in a Nine-Year-Old Female.

Lipoblastomas are benign neoplasms that arise from embryonal adipocytes. They predominantly impact the pediatric population, with most cases occurring in the first few years of life. These tumors typically present as a soft, palpable, painless mass and tend to involve the mesenchymal tissues of the extremities and trunk. Intraabdominal involvement and intraabdominal complications secondary to lipoblastoma are incredibly rare. Here, we present the case of a nine-year-old female who presented to the emergency department (ED) with one week of intermittent lower abdominal pain. The CT abdomen/pelvis demonstrated a well-circumscribed hypodense omental mass measuring 10.1 cm x 4.7 cm x 13.4 cm with minimal mass effect or bowel displacement. At that time, the patient's abdomen was soft without tenderness, distention, or rigidity. Her initial laboratory studies and vital signs were within normal limits. She was evaluated by pediatric surgery, who, given her clinical stability, planned for an anticipated elective resection. Thirteen days after her initial ED visit, the patient returned to the ED with nausea, vomiting, and diffuse abdominal pain. Repeat CT abdomen/pelvis revealed shifting of the omental mass from the left hemi-abdomen to the right hemi-abdomen with associated mesenteric 'swirl sign' and dilated loops of small bowel consistent with small bowel obstruction. Given the patient's CT findings and signs of peritonitis on a physical exam, she was emergently taken to the operating room, where the mass along with 20 cm of small bowel intimately associated with the mass was resected. The proximal end of the involved bowel was found to be twisted and necrotic, consistent with volvulus. A specimen was sent for cytogenetics and found to be positive for FLAG1, ultimately revealing a diagnosis of lipoblastoma. The majority of lipoblastoma development is underpinned by gene rearrangements in the zinc-finger transcription factor PLAG1. Although benign, these tumors can exhibit rapid proliferation and have high recurrence rates. Patients should be monitored long-term with ultrasound (US) or MRI following surgery to assess for recurrence.

Coagulation profiles and percentiles in neonates with hypoxic-ischemic encephalopathy undergoing therapeutic hypothermia: A step toward more accurate transfusion thresholds.

BACKGROUND: In the literature, there are no studies about the transfusion threshold for neonates with hypoxic-ischemic encephalopathy (HIE) undergoing therapeutic hypothermia (TH). In order to facilitate accurate interpretation of coagulation results in these neonates, we aimed to generate specific reference intervals in this specific population. METHODS: This retrospective study included all HIE neonates admitted from 2014 to 2022 to undergo TH. All infants during TH underwent blood exams, including the coagulation profile. Our primary outcome was to assess the estimates of the 3rd, 10th, 25th, 50th, 75th, 90th, and 97th percentiles for each parameter on admission (before transfusion). By the receiver operating characteristic (ROC) analysis, the area under the ROC curve (AUC) and the best cut-off point were used to evaluate the ability of the prothrombin time expressed as international normalized ratio (PT-INR) to predict the risk of any bleeding. RESULTS: A total of 143 infants were included in this study. On admission, the median fibrinogen value was 205 mg/dL, prothrombin time 18.6 seconds, PT-INR 1.50, activated partial thromboplastin time 38.3 seconds, thrombin time 18.6 seconds, antithrombin 57.0%. The optimal cut-off of PT-INR in predicting the risk of any bleeding was greater than 1.84 (AUC .623, p = .024). CONCLUSION: For the first time, we proposed the percentiles of coagulation parameters in our cohort of neonates with HIE. Furthermore, we found that a PT-INR greater than 1.84 can significantly predict the risk of any bleeding. Further studies are needed to determine if a restrictive versus a liberal transfusion approach can be equally safer for these high-risk infants.

A Rare Case of Primary B-Cell Lymphoma of the Pancreas.

Primary pancreatic lymphomas (PPLs) are a subgroup of gastrointestinal (GI) lymphomas. They are an exceedingly rare entity, both in terms of pancreatic malignancies and also extranodal lymphomas. Epidemiological investigations have been challenging to do because of their rarity. This has resulted in a lack of clarity on the clinicopathological characteristics, differential diagnosis, best course of treatment, and prognosis of PPL. Because the clinical signs are frequently non-specific, it can lead to a diagnostic hazard for the unwary physician. Preoperatively, it is imperative to distinguish between adenocarcinoma and PPL, as they present similarly, but have vastly different treatment modalities and prognosis. We herein present a case of an elderly man who presented with obstructive jaundice and was found to have PPL.

Bleeding Mystery Unveiled: A Case of Acquired Hemophilia A in the Shadow of Multiple Myeloma.

This case report is of a 50-year-old woman who had a working diagnosis of von Willebrand disease (vWD) due to a history of bleeding complications and continued to experience recurrent bleeding incidents and hematoma. A workup revealed multiple lytic lesions, and a bone marrow biopsy yielded the diagnosis of multiple myeloma. After stem cell transplantation, the patient's factor VIII levels normalized, supporting acquired factor VIII deficiency due to an autoimmune phenomenon. This case highlights the rare occurrence of acquired factor VIII deficiency secondary to multiple myeloma. It also emphasizes the importance of considering secondary causes in patients with a working diagnosis of vWD and recurrent bleeding incidents.

The impact of comparative genomic hybridization/single-nucleotide polymorphism microarray in risk stratification of pediatric acute lymphoblastic leukemia.

BACKGROUND: The objective of this study is to assess the concordance and added value of combined comparative genomic hybridization plus single-nucleotide polymorphism microarray (CGH/SNP) analyses in pediatric acute lymphoblastic leukemia (ALL) risk stratification compared to conventional cytogenetic methods. PROCEDURE: This is a retrospective study that included patients aged 1-18 years diagnosed with de novo ALL at Sainte-Justine Hospital between 2016 and 2021. Results from conventional cytogenetic and molecular analyses were collected and compared to those of CGH/SNP. RESULTS: A total of 135 ALL patients were included. Sample failures or non-diagnostic analyses occurred in 17.8% cases with G-banding karyotypes versus 1.5% cases with CGH/SNP. The mean turnaround time for results was significantly faster for CGH/SNP than karyotype with 5.8 versus 10.7 days, respectively. The comparison of ploidy assessment by CGH/SNP and G-banding karyotype showed strong concordance (r = .82, p < .001, r2 = .68). Furthermore, G-banding karyotype did not detect additional clinically relevant aberrations that were missed by the combined analysis of CGH/SNP and fluorescence in situ hybridization. The most common gene alterations detected by CGH/SNP were deletions involving CDKN2A (35.8%), ETV6 (31.3%), CDKN2B (28.4%), PAX5 (20.1%), IKZF1 (12.7%), and copy-neutral loss of heterozygosity (CN-LOH) of 9p (9.0%). Among these, only ETV6 deletion was found to have a significant prognostic impact with superior event-free survival in both univariate and multivariate analyses (adjusted hazard ratio 0.08, 95% confidence interval: 0.01-0.50, p = .02). CONCLUSION: CGH/SNP provided faster, reliable, and highly concordant results than those obtained by conventional cytogenetics. CGH/SNP identified recurrent gene deletions in pediatric ALL, of which ETV6 deletion conferred a favorable prognosis.

Idelalisib-Induced Pneumonitis in Chronic Lymphocytic Leukemia.

Idelalisib, a phosphoinositide 3-kinase delta (PI3Kδ) inhibitor, effectively treats relapsed chronic lymphocytic leukemia (CLL). While this targeted approach offers a therapeutic edge, particularly in B-cell malignancies, it is associated with complications such as pneumonitis. This report details idelalisib-induced pneumonitis, highlighting the importance of early diagnosis and tailored treatment in achieving a favorable patient outcome.

Profile and Outcomes of Pediatric Hematology and Oncology Patients Diagnosed with COVID-19 in the Philippine General Hospital.

Introduction: The coronavirus pandemic has affected millions worldwide. Better understanding of COVID-19 in pediatric hematology-oncology patients in a resource-limited setting is crucial to improve care as the pandemic ensues. Objectives: This study describes the clinical profile and outcomes of pediatric hematology oncology patients with COVID-19 seen at the Philippine General Hospital (PGH). Methods: A retrospective, descriptive review of pediatric hematology oncology patients with COVID-19 seen between March 2020 to March 2021 in PGH was done. Results: Forty patients were identified. Seventeen percent had non-malignant hematologic conditions, 40% had leukemias, and 42.5% had solid tumors. Fever and cough were the most common manifestations. Seventy-six percent were on treatment, 9% were newly diagnosed, and 7% were in relapse or disease progression. Fifty-five percent had mild COVID-19; 5% and 2.5% had severe and critical COVID-19, respectively. Thirty-seven percent were asymptomatic. Cancer-related therapy was placed on hold for most patients. There were two mortalities, none was due to COVID-19. Conclusion: Results suggest that patients with hematologic and oncologic conditions have a mild course, with majority showing recovery from COVID-19. Delays in cancer-related therapy however, may contribute to disease progression and mortality.

Macrophage Activation Syndrome Presents as Initial Manifestation of Lupus in an Adult Female.

Systemic lupus erythematosus (SLE) is an autoimmune disease characterized by the immune system erroneously attacking healthy tissues and organs. SLE has a wide variety of clinical presentations. The signs and symptoms of SLE are very well-known, though rare presentations could occur that require early clinical attention. Macrophage activation syndrome (MAS) is a severe and life-threatening condition in which the immune system becomes overactive, leading to the excessive stimulation and proliferation of immune cells. MAS can occur as a primary immune disorder, which is not very common. It can also happen secondary to a wide variety of pathological conditions, which include infections, malignancies, autoimmune, and rheumatologic disorders. In rare cases, SLE can present with overlapping features of MAS, further complicating the clinical picture, and may require specialized management. Early recognition and intervention of this overlap are essential for improving outcomes, as delayed diagnosis and treatment can lead to significant morbidity and mortality. Here, we present a case of a young adult female who was diagnosed with SLE with the initial presentation of MAS in the form of fever, splenomegaly, cytopenia, and hemophagocytosis.

Diagnosis and management of acquired aplastic anemia in childhood. Guidelines from the Marrow Failure Study Group of the Pediatric Haemato-Oncology Italian Association (AIEOP).

Acquired aplastic anemia (AA) is a rare heterogeneous disorder characterized by pancytopenia and hypoplastic bone marrow. The incidence is 2-3 per million population per year in the Western world, but 3 times higher in East Asia. Survival in severe aplastic anemia (SAA) has improved significantly due to advances in hematopoietic stem cell transplantation (HSCT), immunosuppressive therapy, biologic agents, and supportive care. In SAA, HSCT from a matched sibling donor (MSD) is the first-line treatment. If a MSD is not available, options include immunosuppressive therapy (IST), matched unrelated donor, or haploidentical HSCT. The purpose of this guideline is to provide health care professionals with clear guidance on the diagnosis and management of pediatric patients with AA. A preliminary evidence-based document prepared by a group of pediatric hematologists of the Bone Marrow Failure Study Group of the Italian Association of Pediatric Hemato-Oncology (AIEOP) was discussed, modified and approved during a series of consensus conferences that started online during COVID 19 and continued in the following years, according to procedures previously validated by the AIEOP Board of Directors.

Primary Bone Marrow Hodgkin's Lymphoma Debuting As Hemophagocytic Lymphohistiocytosis in a Patient With HIV.

The development of Hodgkin's lymphoma (HL) is a known complication in patients with human immunodeficiency virus (HIV) infection. Extranodal involvement, specifically primary bone marrow Hodgkin's lymphoma (PBMHL) is a rare manifestation that has been reported in HIV-positive patients and may represent a distinct entity from HIV-associated HL. We present a case of PBMHL presenting with hemophagocytic lymphohistiocytosis (HLH) in an HIV-positive patient. The 55-year-old male with HIV/AIDS presented with abdominal pain, diarrhea, and fever, leading to hospital admission. Despite initial treatment, he deteriorated, prompting re-admission and investigation revealing pancytopenia and elevated inflammatory markers, suggestive of HLH. Subsequent bone marrow biopsy unexpectedly revealed PBMHL. Treatment with HLH-directed therapy and the HLH-94 protocol resulted in significant clinical improvement. This case underscores the importance of recognizing atypical lymphoproliferative presentations in HIV/AIDS patients and the need for interdisciplinary collaboration in complex cases.

Intracerebral Hemorrhage in a Patient With Newly Diagnosed Immune Thrombocytopenic Purpura Precipitated by a Viral Illness.

Intracerebral hemorrhage (ICH) is a rare and severe complication of immune thrombocytopenic purpura (ITP) that can be spontaneous. Viral illnesses, other infections, autoimmune disorders, and medications can cause ITP. ITP causes a significant decrease in platelet levels, increasing bleeding risk. ITP can be treated by steroids, intravenous immunoglobulin, plasmapheresis, platelet transfusion, biological agents, and splenectomy. ICH treatment involves the treatment of underlying ITP, as well as any neuro-interventional procedures needed. In this case report, we look at the presenting symptoms and treatment course of an interesting case of ICH in a patient who developed ITP after a viral upper respiratory infection.

A phase 3b study of venetoclax and azacitidine or decitabine in an outpatient setting in patients with acute myeloid leukemia.

Venetoclax, a highly selective BCL-2 inhibitor, combined with hypomethylating agents (HMAs) azacitidine or decitabine, is approved for the treatment of newly diagnosed acute myeloid leukemia (ND AML) in patients who are ineligible to receive intensive chemotherapy. Previous clinical studies initiated venetoclax plus HMA in an inpatient setting owing to concerns of tumor lysis syndrome (TLS). This study (NCT03941964) evaluated the efficacy and safety of venetoclax plus HMA in a United States community-based outpatient setting in patients with ND AML (N = 60) who were treatment naïve for AML, ineligible to receive intensive chemotherapy, had no evidence of spontaneous TLS at screening, and were deemed as appropriate candidates for outpatient initiation of venetoclax plus HMA by the investigator. Patients received venetoclax in combination with azacitidine (75 mg/m2) or decitabine (20 mg/m2) for up to 6 cycles during the study. With a median time on study of 18.3 weeks, the best response rate of composite complete remission was 66.7%, and the overall post-baseline red blood cell (RBC) and platelet transfusion independence rate was 55.0%, consistent with results of studies in which treatment was initiated in an inpatient setting. Key adverse events included nausea, anemia, thrombocytopenia, neutropenia, and white blood cell count decrease of any grade (≥50% of patients). The observed safety profile was generally consistent with that of venetoclax plus HMA observed in inpatient AML studies. With close monitoring, 2 cases of TLS were identified, appropriately managed, and the patients were able to continue study treatment. CLINICAL TRIALS REGISTRATION: This study is registered at ClinicalTrials.gov. The registration identification number is NCT03941964.

Posterior reversible encephalopathy syndrome in immunocompromised children - A single-center study from South India.

This study describes the profile of children diagnosed with posterior reversible encephalopathy syndrome (PRES) in the pediatric hematology oncology unit and highlights the clinical features of PRES in immunosuppressed children. This retrospective study included 10 children diagnosed with PRES with a mean age of 6.8 years. Acute lymphoblastic leukemia was the most common primary diagnosis followed by post-hematopoietic stem cell transplant patients. Most cases of PRES occurred within one month of treatment initiation. Hypertension was noted in all at the time of diagnosis. Neuroimaging revealed bilateral lesions with parietal and occipital lobe involvement being the most common. All patients received corticosteroids as part of treatment for primary diagnosis. Controlling blood pressure was critical in managing PRES. Consideration of PRES as a clinical possibility in pediatric hematology oncology unit in children presenting with symptoms such as headache, seizures, and visual disturbances will aid in early diagnosis after ruling out other causes of these symptoms.

Experience in improving treatment outcomes for childhood acute lymphoblastic leukemia: real-world results for a province in China, 2011-2020.

The present study aimed to investigate the real-world results of childhood acute lymphoblastic leukemia (cALL) cases in Fujian, China. The clinical data of 1414 patients with newly diagnosed cALL in Fujian were retrospectively analyzed. Patients were treated according to the Chinese Children Leukemia Group 2008 protocol (CCLG-ALL 2008 group) or Chinese Children's Cancer Group 2015 protocol (CCCG-ALL 2015 group). Cumulative incidence of treatment abandonment (TA) at 5 years was 4.2% ± 0.6% and significantly associated with treatment period and risk stratification. The 5-OS and EFS were significantly higher in the CCCG-ALL 2015 group than in the CCLG-ALL 2008 group. Patients treated with CCCG-ALL 2015 from Fujian Medical Union Hospital had a significantly higher 4-year OS and EFS than did those from the other four hospitals. Real-world TA of cALL greatly decreased, and its long-term survival significantly increased in Fujian, which may be related to optimizing programs, multi-center collaboration, and improving treatment compliance.

Treatment of newly diagnosed severe aplastic anemia in children: Evidence-based recommendations.

Severe aplastic anemia (SAA) is a rare potentially fatal hematologic disorder. Although overall outcomes with treatment are excellent, there are variations in management approach, including differences in treatment between adult and pediatric patients. Certain aspects of treatment are under active investigation in clinical trials. Because of the rarity of the disease, some pediatric hematologists may have relatively limited experience with the complex management of SAA. The following recommendations reflect an up-to-date evidence-based approach to the treatment of children with newly diagnosed SAA.

Treatment of relapsed/refractory severe aplastic anemia in children: Evidence-based recommendations.

Severe aplastic anemia (SAA) is a rare potentially fatal hematologic disorder. Although overall outcomes with treatment are excellent, there are variations in management approach, including differences in treatment between adult and pediatric patients. Certain aspects of treatment are under active investigation in clinical trials. Because of the rarity of the disease, some pediatric hematologists may have relatively limited experience with the complex management of SAA. The following recommendations reflect an up-to-date evidence-based approach to the treatment of children with relapsed or refractory SAA.