RESUMEN
Hemophagocytic lymphohistiocytosis (HLH) is a rare disease characterized by the uncontrolled activation of the immune system, resulting in a high clinical mortality rate. A 56-year-old Chinese female presented at the emergency room with symptoms including fever, fatigue, nausea, vomiting, cough, shortness of breath, and chest tightness. Laboratory investigations demonstrated decreased levels of white blood cells, hemoglobin, and platelets while interleukin-6 and ferritin exhibited significant elevations. She was subsequently admitted to the hematology department, where she was diagnosed with HLH caused by a Candida infection. Following treatment with antifungal agents, glucocorticoids, antiemetics, diuretics, and hepatoprotective therapy, the patient's condition has shown improvement. However, after being infected with Severe Acute Respiratory Syndrome Coronavirus 2 (SARS-CoV-2), the patient experienced a reactivation of HLH, resulting in a more severe clinical presentation and complications compared to the initial onset. Although the patient's condition improved after the administration of antiviral drugs, etoposide, glucocorticoids, cyclosporin, and intravenous immunoglobulin, this case highlights the possibility of disease reactivation during the recovery phase of HLH. This should raise the attention of medical professionals.
RESUMEN
Myeloid sarcoma (MS) occurs in patients with acute myeloid leukemia (AML). In rare cases, MS can represent a form of blast transformation in patients with myeloproliferative neoplasms (MPN), myelodysplastic neoplasms (MDS), or MDS/MPN. The most frequent chromosomal alterations in MS are t(8;21) or inv(16), with other alterations being reported. Cases of MS in Janus kinase 2 (JAK2)-positive MDS with fibrosis are exceedingly rare. Here, we describe such a case. To the best of our knowledge, this is the first report of a JAK2 V617F mutation-positive MDS case occurring concurrently with MS involving the posterior aspect of the left seventh rib. No clear association has been previously demonstrated between the intramedullary AML cytogenetics and extramedullary disease occurrence. Interestingly, samples from the intramedullary MDS and extramedullary mass in this patient presented the same JAK2 V617F mutation. Following a treatment regimen of azacitidine and venetoclax, the patient achieved complete remission. The chest CT scan showed that the seventh posterior rib mass disappeared. This case provides valuable information for the potential future treatment of this disease.
Asunto(s)
Janus Quinasa 2 , Síndromes Mielodisplásicos , Sarcoma Mieloide , Humanos , Janus Quinasa 2/genética , Sarcoma Mieloide/patología , Sarcoma Mieloide/genética , Sarcoma Mieloide/tratamiento farmacológico , Sarcoma Mieloide/diagnóstico , Síndromes Mielodisplásicos/patología , Síndromes Mielodisplásicos/genética , Síndromes Mielodisplásicos/tratamiento farmacológico , Síndromes Mielodisplásicos/diagnóstico , Masculino , Mutación , Persona de Mediana Edad , Anciano , Fibrosis , FemeninoRESUMEN
RATIONAL: The Philadelphia chromosome (Ph) is seen in most patients with chronic myeloid leukemia and some patients with acute lymphoblastic leukemia. However, Ph-positive acute myeloid leukemia (Phâ +â AML) is a rare entity with a poor prognosis and a short median survival period. To date, there have been few clinical reports on this disease. And the treatment regimen of this disease has not been uniformly determined. PATIENT CONCERNS: We report a case of a Phâ +â AML. A 32-year-old male who was admitted to our hospital with weakness for 2 months. DIAGNOSIS: Philadelphia chromosome-positive acute myeloid leukemia. INTERVENTIONS: The patient achieved complete remission by the administration of a tyrosine kinase inhibitor, combined with low-intensity chemotherapy and a B-cell lymphoma 2 inhibitor. Then, allogeneic hematopoietic stem cell transplantation (allo-HSCT) from his sister was successfully performed. OUTCOMES: The patient has been in a continuous remission state for 6 months after transplantation. LESSONS: We reported a rare Phâ +â AML case, successfully treated with allo-HSCT. This case provided strong support for treating Phâ +â AML with allo-HSCT.
Asunto(s)
Trasplante de Células Madre Hematopoyéticas , Leucemia Mieloide Aguda , Cromosoma Filadelfia , Humanos , Masculino , Trasplante de Células Madre Hematopoyéticas/métodos , Adulto , Leucemia Mieloide Aguda/terapia , Leucemia Mieloide Aguda/genética , Trasplante Homólogo , Inducción de RemisiónRESUMEN
RATIONALE: Activated phosphoinositide 3-kinase δ syndrome (APDS), a recently described primary immunodeficiency,is caused by autosomal dominant mutation in the phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta(PIK3CD) gene encoding the p110δ catalytic subunit of PI3Kδ (APDS1) or the PIK3R1 gene that encodes the p85α regulatory subunit of PI3Kδ (APDS2). Gain-of-function mutation of PIK3CD in APDS1 leads to p110δ hyperactivity, with the result of the hyperphosphorylation of downstream mediators of Akt and mammalian target of rapamycin that cause a series of clinical symptoms. Few cases with APDS were reported in Asia. PATIENT CONCERNS: We report a 6-year-old patient with a recurrent respiratory infection, cryptosporidium enteritis, lymphoproliferation, high serum immunoglobulin-M level, anemia, and inverted CD4+/CD8+ ratio. The whole exome sequencing confirmed a heterozygous missense mutation c.3061G>Aï¼p.E1021Kï¼in patient and her mother. Her mutant gene is inherited from her mother, but her mother has not any clinical symptoms. DIAGNOSES: Activated phosphoinositide 3-kinase δ syndrome. INTERVENTIONS: The patient was received immunoglobulin (Ig) replacement therapy, antibiotics, and rapamycin treatment. Through effectively controlling infection and optimal timing of transplantation by adjusting the conditioning regimen, haploidentical Hematopoietic Stem Cell Transplantation(haplo-HSCT) from her brother was successfully performed. OUTCOMES: The patient is in good condiion with a good quality of life after 20 months of follow-up. LESSONS: We reported a rare APDS1 case with PIK3CD E1021K gene mutation, Successfully treated with haplo-HSCT. This case provided a reference for treating APDS with haplo-HSCT.
Asunto(s)
Criptosporidiosis , Cryptosporidium , Trasplante de Células Madre Hematopoyéticas , Síndromes de Inmunodeficiencia , Enfermedades de Inmunodeficiencia Primaria , Niño , Femenino , Humanos , Masculino , Fosfatidilinositol 3-Quinasa Clase I/genética , Criptosporidiosis/tratamiento farmacológico , Síndromes de Inmunodeficiencia/genética , Mutación , Fosfatidilinositol 3-Quinasa , Fosfatidilinositol 3-Quinasas/genética , Calidad de Vida , Sirolimus/uso terapéuticoRESUMEN
HLA-A*02:1068Q differs from HLA-A*02:03:01:01 by one nucleotide in exon 1.