RESUMEN
Malignant peripheral nerve sheath tumor (MPNST) is a rare soft-tissue sarcoma with an unfavorable prognosis and limited therapeutic options. MPNSTs can be sporadic, but are often associated with neurofibromatosis (NF) 1 and usually arise from preexisting neurofibromas. MPNSTs in patients with NF2 have been reported in only exceedingly rare cases, and the mechanisms underlying transformation into an MPNST have not been fully elucidated. Here, we describe the clinicopathological and genomic features of a peripheral nerve sheath tumor (PNST), with a primary diagnosis of a neurofibroma, as it transforms into a high-grade MPNST in the context of NF2.
Asunto(s)
Neoplasias de la Vaina del Nervio/patología , Neurofibromatosis 2/patología , Sarcoma/patología , Transformación Celular Neoplásica/patología , Niño , Humanos , Masculino , Neoplasias de la Vaina del Nervio/genética , Neurofibromatosis 2/genética , Sarcoma/genéticaRESUMEN
Rearrangements of the mixed lineage leukemia (MLL) gene occur frequently in infants with both acute lymphoblastic leukemia (ALL) and acute myeloid leukemia (AML). Conversions of leukemia cell lineage are rare, but occur most commonly in the setting of MLL-rearrangement. Blinatumomab is a bidirectional antibody targeting CD19 with significant activity in relapsed B-precursor ALL. We report an infant with ALL with t(4;11)(q21;q23) refractory to cytotoxic chemotherapy who was treated with blinatumomab. Following rapid initial clearance of peripheral lymphoblasts, bone marrow evaluation demonstrated a leukemic lineage switch to CD19-negative monoblastic AML. Complete remission was achieved with myeloid-directed chemotherapy.
Asunto(s)
Anticuerpos Biespecíficos/uso terapéutico , Linaje de la Célula/efectos de los fármacos , Leucemia Mieloide Aguda/patología , Leucemia-Linfoma Linfoblástico de Células Precursoras/tratamiento farmacológico , Leucemia-Linfoma Linfoblástico de Células Precursoras/patología , Antígenos CD19 , Protocolos de Quimioterapia Combinada Antineoplásica/uso terapéutico , Reordenamiento Génico , Humanos , Lactante , Leucemia Mieloide Aguda/tratamiento farmacológico , Leucemia Mieloide Aguda/genética , Masculino , Proteína de la Leucemia Mieloide-Linfoide/genética , Leucemia-Linfoma Linfoblástico de Células Precursoras/genéticaRESUMEN
Monosomy 7 is a well-documented cytogenetic aberration in pediatric acute myeloid leukemia (AML) and may occur in combinations with molecular abnormalities including PTPN11 mutation. PTPN11 mutations contribute to leukemogenesis through upregulation of Ras pathway signaling. We present the case of a 3-year-old female with AML with monosomy 7 and somatic PTPN11 mutation who was refractory to conventional AML chemotherapy but responded to a novel regimen of azacitidine and sorafenib followed by stem cell transplantation. Combination therapy with azacitidine and sorafenib may be an effective therapeutic strategy for patients with AML with Ras pathway abnormalities.
Asunto(s)
Antimetabolitos Antineoplásicos/administración & dosificación , Antineoplásicos/administración & dosificación , Azacitidina/administración & dosificación , Deleción Cromosómica , Leucemia Mieloide Aguda/tratamiento farmacológico , Leucemia Mieloide Aguda/genética , Niacinamida/análogos & derivados , Compuestos de Fenilurea/administración & dosificación , Proteína Tirosina Fosfatasa no Receptora Tipo 11/genética , Preescolar , Cromosomas Humanos Par 7 , Quimioterapia Combinada , Femenino , Humanos , Mutación , Niacinamida/administración & dosificación , Sorafenib , Trasplante de Células MadreAsunto(s)
Enfermedades Autoinmunes/genética , Antígeno CTLA-4/genética , Trastornos Linfoproliferativos/genética , Adolescente , Enfermedades Autoinmunes/inmunología , Enfermedades Autoinmunes/patología , Femenino , Haploinsuficiencia , Humanos , Trastornos Linfoproliferativos/inmunología , Trastornos Linfoproliferativos/patología , Glándula Submandibular/patología , Linfocitos T/inmunologíaAsunto(s)
Antifúngicos/uso terapéutico , Inmunodeficiencia Variable Común/patología , Fiebre/patología , Histoplasmosis/patología , Itraconazol/uso terapéutico , Linfoma de Células B de la Zona Marginal/patología , Inmunodeficiencia Variable Común/diagnóstico por imagen , Inmunodeficiencia Variable Común/tratamiento farmacológico , Inmunodeficiencia Variable Común/inmunología , Fiebre/diagnóstico por imagen , Fiebre/tratamiento farmacológico , Fiebre/inmunología , Histoplasma/efectos de los fármacos , Histoplasma/crecimiento & desarrollo , Histoplasma/patogenicidad , Histoplasmosis/diagnóstico por imagen , Histoplasmosis/tratamiento farmacológico , Histoplasmosis/inmunología , Humanos , Inmunoglobulinas Intravenosas/uso terapéutico , Linfoma de Células B de la Zona Marginal/diagnóstico por imagen , Linfoma de Células B de la Zona Marginal/tratamiento farmacológico , Linfoma de Células B de la Zona Marginal/inmunología , Masculino , Adulto JovenRESUMEN
N-methyl-D-aspartate receptor (NMDAR) encephalitis is a life-threatening paraneoplastic neuropsychiatric encephalitis that predominantly affects young women and has a strong association with ovarian teratomas. Removal of the ovarian teratomas improves the prognosis and decreases the risk of recurrence. We present an 11-year-old girl with NMDAR encephalitis with small bilateral teratomas not initially appreciated on abdominal CT or pelvic MRI. A 12-mm teratoma was identified in the right ovary and a 7-mm teratoma was identified in the left ovary on US follow-up at 5 months. Intraoperative sonography was used to localize the teratomas for excision. In NMDAR encephalitis, the ovarian teratomas can be very small, particularly in children, and easily missed on cross-sectional imaging. Awareness of the association of NMDAR encephalitis and ovarian teratomas will improve the diagnostic accuracy and imaging interpretation. Periodic sonography and MRI might be warranted in children if the initial study is negative.