Browse
Submit Data
Databases
API
Help

Dataset Information

0 Views

0 Connections

0 Citations

0 Reanalyses

0 Downloads

Omics score: 0

Primary autoimmune myelofibrosis: A case report in a child.

ABSTRACT: Autoimmune myelofibrosis (AIMF) is an uncommon cause of myelofibrosis associated with favorable outcome. Primary AIMF, AIMF without a known systemic autoimmune disorder, has been described in adults, but never in children. Here, we present, for the first time, an apparent case of primary AIMF in a 15-year-old boy admitted with profound hypoproliferative anemia.

SUBMITTER: Hexner-Erlichman Z

PROVIDER: S-EPMC9175846 | biostudies-literature | 2020 Jul

REPOSITORIES: biostudies-literature

ACCESS DATA

Json Xml

Publications

Primary autoimmune myelofibrosis: A case report in a child.

Hexner-Erlichman Zufit Z Yacobovich Joanne J Trougouboff Philippe P Avraham-Kelbert Moran M Eitam Harel H Spiegel Ronen R Yeganeh Shay S Levin Carina C

EJHaem 20200628 1

Autoimmune myelofibrosis (AIMF) is an uncommon cause of myelofibrosis associated with favorable outcome. Primary AIMF, AIMF without a known systemic autoimmune disorder, has been described in adults, but never in children. Here, we present, for the first time, an apparent case of primary AIMF in a 15-year-old boy admitted with profound hypoproliferative anemia. ...[more]

PMID: 35847714

Similar Datasets

Cardiac tamponade associated with primary myelofibrosis: a case report.

Project description:BackgroundCardiac tamponade is a life-threatening condition that occurs when an abnormal amount of fluid accumulates in the pericardial sac and impedes the cardiac filling process. Although extremely rare, haematological diseases have the potential to trigger an extramedullary haematopoiesis (EMH) process within the pericardium, resulting in a substantial build-up of pericardial effusion.Case summaryWe present the case of a 29-year-old male previously diagnosed with primary myelofibrosis (PMF), who presented to the emergency unit with cardiac tamponade. An emergent pericardiocentesis procedure was performed, successfully evacuating 850 mL of haemorrhagic fluid. Over the course of 3 days, a total of 1.5 L of haemorrhagic effusion were drained from the pericardial space. Analysis of the pericardial fluid revealed evidence of haematopoietic activity, suggesting a potential association with the EMH process occurring within the pericardium. Following a 7-day hospitalization, the patient was discharged in stable condition but later experienced the development of constrictive pericarditis.DiscussionHaemorrhagic pericardial effusion is a rare occurrence. The majority of cases stems from complications of medical procedures (iatrogenic), malignancies, or side effects of antiplatelet/anticoagulant medications. In patients with PMF, the impaired haematopoietic ability caused by the fibrotic process in the bone marrow compels the body to produce blood components elsewhere, a phenomenon known as EMH. On very rare occasions, EMH can develop in the pericardial space, potentially leading to life-threatening cardiac tamponade. Our patient was successfully managed through pericardial fluid evacuation and drainage but later developed constrictive pericarditis.

| S-EPMC10766069 | biostudies-literature

Successful Management of Lupus-Associated Autoimmune Myelofibrosis with Tofacitinib: A Case Report.

Project description:We report a case of a 34-year-old woman with systemic lupus erythematosus (SLE) who developed thrombocytopenia and was diagnosed with lupus-associated autoimmune myelofibrosis. She was treated with hydroxychloroquine, tofacitinib (5 mg twice daily), intravenous Ig, and prednisone (5 mg twice daily, tapered to 5 mg daily after one month). After 10 months of this regimen, her bone marrow showed complete resolution of myelofibrosis. This case highlights the effectiveness of tofacitinib in the treatment of autoimmune myelofibrosis associated with SLE.

| S-EPMC11877551 | biostudies-literature

Immunoglobulin G4-Related Disease Accompanied by Primary Myelofibrosis: Case Report.

Project description:Immunoglobulin G4-related disease (IgG4-RD) is a heterogeneous autoimmune fibrosing disorder that presents common pathologic features but with unclear etiology. We report a rare case of IgG4-RD accompanied by primary myelofibrosis that eventually transformed into acute myeloid leukemia. A 50-year-old woman suffered from progressive lacrimal and parotid gland enlargement, diaphoresis, and rapid weight loss. Important clinical findings included remarkable leukocytosis, hyperglobulinemia, and splenomegaly. IgG4-RD was confirmed by salivary gland biopsy. Meanwhile, myelofibrosis was diagnosed according to histopathological findings of bone marrow and genetic mutation test of peripheral blood. The patient was on corticosteroid treatment. However, she developed into acute myeloid leukemia (AML) in the 8th month of follow-up. Our case suggested that myeloproliferative neoplasm (MPN) may co-occur with IgG4-RD. Bone morrow aspiration and genetic tests are helpful for throughout evaluation. An active search for hematological malignancies is warranted at diagnosis and during follow-up for patients who present with unexplained leukocytosis, pancytopenia, splenomegaly, or weight loss.

| S-EPMC8129158 | biostudies-literature

Case Report: Primary Leptomeningeal Medulloblastoma in a Child: Clinical Case Report and Literature Review.

Project description:Medulloblastoma is one of the most common pediatric central nervous system malignancies worldwide, and it is characterized by frequent leptomeningeal metastasizing. We report a rare case of primary leptomeningeal medulloblastoma of an 11-year-old Caucasian girl with a long-term disease history, non-specific clinical course, and challenges in the diagnosis verification. To date, 4 cases of pediatric primary leptomeningeal medulloblastoma are reported, and all of them are associated with unfavorable outcomes. The approaches of neuroimaging and diagnosis verification are analyzed in the article to provide opportunities for effective diagnosis of this disease in clinical practice. The reported clinical case of the primary leptomeningeal medulloblastoma is characterized by MR images with non-specific changes in the brain and spinal cord and by 18FDG-PET/CT images with diffuse heterogeneous hyperfixation of the radiopharmaceutical along the whole spinal cord. The immunohistochemistry and next-generation sequencing analyses of tumor samples were performed for comprehensive characterization of the reported clinical case.

| S-EPMC9309486 | biostudies-literature

Histiocytic necrotizing lymphadenitis with autoimmune encephalitis in a child: a case report

Project description: Not available

| S-EPMC11543126 | biostudies-literature

Histological Changes in Autoimmune Hepatitis with Graves' Disease: A Child Case Report.

Project description:We herein report a child case of autoimmune hepatitis (AIH) accompanied with Graves' disease. Elevated aminotransferase levels were found in a 12-year-old Japanese girl with Graves' disease. In her first liver biopsy, necrosis and inflammation was limited to the centrilobular area, while the second biopsy showed different findings. Namely, portal injury newly appeared, including interface hepatitis, which represents the histological characteristics of AIH. As the histological findings at the onset of AIH do not always show typical findings, a re-biopsy is considered to be important in individuals suspected to have AIH. AIH should be included in the differential diagnosis of liver dysfunction in Graves' disease, even in children.

| S-EPMC5596273 | biostudies-literature

Primary orbital pleomorphic liposarcoma in a child: A case report.

Project description:PurposeTo report a rare case of primary orbital pleomorphic liposarcoma and present a relevant literature review.ObservationsAn 11-year-old boy presented with an enlarging, painless lower right eyelid mass that was noted 4 months ago. Imaging revealed a 3.2 × 2.1 × 3.7-cm-sized well-circumscribed lobulated mass. Biopsy revealed a pleomorphic spindle cell neoplasm that was consistent with a pleomorphic liposarcoma. A systemic evaluation found no evidence of distant metastasis. Despite four chemotherapy cycles, the mass size increased at follow-up. Total orbital exenteration was performed 1 year after confirming a diagnosis of pleomorphic liposarcoma. At the 6-month follow-up, the patient was alive with no signs of recurrence.ConclusionsPediatric pleomorphic liposarcoma is a very rare entity. Its definite diagnosis relies on histopathological results. In the absence of systemic metastasis, total orbital exenteration is the optimal approach for local control.

| S-EPMC8818483 | biostudies-literature

Primary Diffuse Leptomeningeal Melanomatosis in a Child with Extracranial Metastasis: Case Report.

Project description:Primary meningeal melanomatosis is an extremely rare tumor with very few documented responses to treatment. A 3-year-old male with a complex past medical history, including prematurity and shunted hydrocephalus, was diagnosed with primary meningeal melanomatosis with peritoneal implants. Molecular testing revealed an NRAS Q61R mutation. The patient received proton craniospinal radiation followed by immunotherapy with nivolumab (1 mg/kg) and ipilimumab (3 mg/kg) IV every 3 weeks and, upon progression, he was switched to a higher dose of nivolumab (3 mg/kg IV every 2 weeks) and binimetinib (24 mg/m2/dose, twice a day). The patient had significant improvement of CNS disease with radiation therapy and initial immunotherapy but progression of extracranial metastatic peritoneal and abdominal disease. Radiation was not administered to the whole abdomen. After two cycles of nivolumab and treatment with the MEK inhibitor binimetinib, he had radiographic and clinical improvement in abdominal metastasis and ascitis. He ultimately died from RSV infection, Klebsiella sepsis, and subdural hemorrhage without evidence of tumor progression. This is the first report of a child with primary meningeal melanomatosis with extracranial metastatic disease with response to a combination of radiation, immunotherapy and MEK inhibitor therapy.

| S-EPMC10814890 | biostudies-literature

Aspergillus case report

Project description:Aspergillary rhinopharyngitis in an equine patient

| PRJEB46193 | ENA

Cerebral venous sinus thrombosis associated with JAK2 V617F mutation-related pre-primary myelofibrosis: a case report and literature review.

Project description:BackgroundCerebral venous sinus thrombosis (CVST) is a rare but potentially life-threatening subtype of stroke. Prompt and appropriate anticoagulation is crucial for improving the prognosis of CVST and preventing its recurrence. Identifying the underlying cause of CVST is decisive for guiding anticoagulant selection and determining treatment duration.Case presentationA 50-year-old man presented with a 35-day history of headache, nausea, vomiting, and blurred vision. Digital subtraction angiography performed at another facility revealed CVST. A contrast-enhanced black-blood MRI at our center confirmed the diagnosis, which was supported by a high intracranial pressure of 330mmH2O. Laboratory tests showed elevated leukocytes and platelet counts, raising suspicion of an underlying myeloproliferative neoplasms (MPNs). A bone marrow biopsy demonstrated increased megakaryocytes and granulocytes, and genetic testing identified the presence of the Janus kinase 2 V617F (JAK2 V617F) mutation, leading to a diagnosis of pre-primary myelofibrosis (pre-PMF). During hospitalization, anticoagulation with nadroparin calcium and fibrinolytic therapy were initiated. Upon discharge, rivaroxaban and aspirin were prescribed to prevent CVST recurrence and arterial thrombosis.ConclusionThis case highlights the importance of recognizing dynamic changes in routine blood tests that may link CVST to underlying hematological disorders. The JAK2 mutation is not only associated with MPNs but also increases the risk of thrombosis, including CVST. Further investigation is warranted to better understand the mechanisms by which JAK2 mutations contribute to thrombosis and to explore the potential benefits of JAK2 inhibitors in reducing this risk.

| S-EPMC11470542 | biostudies-literature

OmicsDI is part of the ELIXIR infrastructure

OmicsDI is an Elixir interoperability service. Learn more ›

Tweets

OmicsDI Databases

PRIDE
PeptideAtlas
MassIVE
JPOST Repository
Physiome Model Repository

EGA
EVA
ENA
LINCS
PAXDB
Cell Collective

MetaboLights
Metabolomics Workbench
MetabolomeExpress
GNPS
BioModels
FAIRDOMHub

ArrayExpress
dbGaP
ExpressionAtlas
GEO
NODE

Information

Databases
Help
API
Contact us
Code on GitHub
Terms of use
Submit Data