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1.
Mod Pathol ; 37(2): 100406, 2024 Feb.
Artículo en Inglés | MEDLINE | ID: mdl-38104892

RESUMEN

Chronic myeloid leukemia (CML) is characterized by leukocytosis with left-shifted neutrophilia, basophilia, eosinophilia, and variable thrombocytosis. However, extremely rare cases of patients with CML without significant leukocytosis and thrombocytosis (aleukemic phase [ALP] CML, or CML-ALP) have been reported. Due to its rarity and limited awareness, there remains a significant knowledge gap concerning the pathologic diagnosis, disease progression, and optimal patient management and outcomes. In this multi-institutional study, we investigated 31 patients with CML-ALP. Over half (54.8%) of patients had a history of or concurrent hematopoietic or nonhematopoietic malignancies. At time of diagnosis of CML-ALP, approximately 26.7% of patients exhibited neutrophilia, 56.7% had basophilia, and 13.3% showed eosinophilia. The median number of metaphases positive for t(9;22)(q34;q11.2) was 15, with a median of 38.5% of interphase nuclei positive for BCR::ABL1 by fluorescence in situ hybridization. The median BCR::ABL1 level was 26.14%. Remarkably, 14 (45.2%) patients were initially misdiagnosed or not diagnosed before karyotype or fluorescence in situ hybridization information for BCR::ABL1 became available. Twenty-five patients received tyrosine kinase inhibitors (TKIs). One patient developed blast crisis while on TKI treatment 8 months after initial diagnosis. With a median follow-up time of 46.1 months, 20 of 22 patients who received TKI therapy and had detailed follow-up information achieved complete cytogenetic remission or deeper, 15 achieved major molecular remission or deeper, and 10 achieved molecularly undetectable leukemia. In conclusion, given the frequent occurrence of prior or concurrent malignancies, aleukemic presentation, and low level of t(9;22)(q34;q11.2)/BCR::ABL1, misdiagnosis or delayed diagnosis is common among these patients. While these patients generally respond well to TKIs, rare patients may develop blastic transformation. It is therefore important for pathologists and hematologists to be aware of this highly unusual presentation of CML to ensure timely diagnosis and appropriate management.


Asunto(s)
Eosinofilia , Leucemia Mielógena Crónica BCR-ABL Positiva , Trombocitosis , Humanos , Hibridación Fluorescente in Situ , Leucocitosis , Proteínas de Fusión bcr-abl/genética , Leucemia Mielógena Crónica BCR-ABL Positiva/diagnóstico , Leucemia Mielógena Crónica BCR-ABL Positiva/genética , Leucemia Mielógena Crónica BCR-ABL Positiva/patología , Trombocitosis/genética , Inhibidores de Proteínas Quinasas/uso terapéutico
2.
Dermatol Surg ; 2024 Jul 12.
Artículo en Inglés | MEDLINE | ID: mdl-38996348

RESUMEN

BACKGROUND: Although lidocaine is widely used in dermatologic surgery, no formal standard concentration is established. Previous research indicates that more dilute concentrations may offer equally effective anesthesia while potentially reducing toxicity risks. In addition, diluting commercially available lidocaine conserves supplies-a significant benefit during periods of lidocaine shortage. OBJECTIVE: To evaluate the efficacy of 0.25% lidocaine compared with that of 0.5% lidocaine in achieving anesthesia in cutaneous surgery. MATERIALS AND METHODS: A prospective, double-blind study with 100 patients undergoing cutaneous surgery (Mohs surgery or excision) randomized to receive either 0.25% or 0.5% lidocaine for their percutaneous anesthesia. Patients completed a postoperative survey assessing pain level, satisfaction, and willingness to undergo future dermatologic surgery. RESULTS: This study revealed no statistically significant differences between the 0.25% and 0.5% lidocaine groups regarding pain scores, patient satisfaction, total lidocaine volume, rescue lidocaine volume, or willingness to undergo the procedure again. CONCLUSION: 0.25% lidocaine is a safe and effective option for achieving anesthesia during Mohs surgery and standard excisions. The results suggest that 0.25% lidocaine can be used to optimize high-value care and enhance patient safety in dermatologic surgery.

3.
Ann Hematol ; 99(3): 487-500, 2020 Mar.
Artículo en Inglés | MEDLINE | ID: mdl-32006151

RESUMEN

Fusion partners of KMT2A affect disease phenotype and influence the current World Health Organization classification of hematologic neoplasms. The t(11;16)(q23;p13)/KMT2A-CREBBP is considered presumptive evidence of a myelodysplastic syndrome (MDS) and a MDS-related cytogenetic abnormality in the classification of acute myeloid leukemia (AML). Here, we report 18 cases of hematologic neoplasms with t(11;16). There were 8 males and 10 females with a median age of 51.9 years at time of detection of t(11;16). Of 17 patients with enough clinical information and pathological materials for review, 16 had a history of cytotoxic therapies for various malignancies including 12/15 patients who received topoisomerase II inhibitors, and 15 were classified as having therapy-related neoplasms. The median interval from the diagnosis of primary malignancy to the detection of t(11;16) was 23.2 months. Dysplasia, usually mild, was observed in 7/17 patients. Blasts demonstrated monocytic differentiation in 8/8 patients who developed AML at the time or following detection of t(11;16). t(11;16) was observed as the sole chromosomal abnormality in 10/18 patients. KMT2A rearrangement was confirmed in 11/11 patients. The median survival from the detection of t(11;16) was 15.4 months. In summary, t(11;16)(q23;p13) is rare and overwhelmingly associated with prior exposure of cytotoxic therapy. Instead of being considered presumptive evidence of myelodysplasia, we suggest that the detection of t(11;16) should automatically prompt a search for a history of malignancy and cytotoxic therapy so that proper risk stratification and clinical management are made accordingly. The dismal outcome of patients with t(11;16) is in keeping with that of therapy-related neoplasms.


Asunto(s)
Proteína de Unión a CREB/genética , Cromosomas Humanos Par 11/genética , Cromosomas Humanos Par 16/genética , Bases de Datos Factuales , Neoplasias Hematológicas , N-Metiltransferasa de Histona-Lisina/genética , Leucemia Mieloide Aguda , Síndromes Mielodisplásicos , Proteína de la Leucemia Mieloide-Linfoide/genética , Neoplasias Primarias Secundarias , Proteínas de Fusión Oncogénica/genética , Inhibidores de Topoisomerasa II/administración & dosificación , Translocación Genética , Adulto , Anciano , Anciano de 80 o más Años , Femenino , Neoplasias Hematológicas/tratamiento farmacológico , Neoplasias Hematológicas/genética , Neoplasias Hematológicas/mortalidad , Humanos , Leucemia Mieloide Aguda/tratamiento farmacológico , Leucemia Mieloide Aguda/genética , Leucemia Mieloide Aguda/mortalidad , Masculino , Persona de Mediana Edad , Síndromes Mielodisplásicos/tratamiento farmacológico , Síndromes Mielodisplásicos/genética , Síndromes Mielodisplásicos/mortalidad , Neoplasias Primarias Secundarias/tratamiento farmacológico , Neoplasias Primarias Secundarias/genética , Neoplasias Primarias Secundarias/mortalidad , Medición de Riesgo
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