RESUMO
We report a case of cutaneous anaplastic lymphoma kinase-positive anaplastic large-cell lymphoma (ALCL) with linear distributional lesions and sarcomatoid histologic features. A sarcomatoid variant is the rarest morphological pattern of ALCL. Interestingly, the morphology of tumor cells in the present case transitioned from a sarcomatoid variant of ALCL at first diagnosis to a classic variant at relapse. The case is a diagnostic challenge considering both the clinical and histologic aspects. Awareness of the sarcomatoid variant of ALCL and its morphological changes can lead to a correct diagnosis.
Assuntos
Biomarcadores Tumorais/análise , Linfoma Anaplásico de Células Grandes/enzimologia , Receptores Proteína Tirosina Quinases/análise , Sarcoma/enzimologia , Neoplasias Cutâneas/enzimologia , Adulto , Quinase do Linfoma Anaplásico , Protocolos de Quimioterapia Combinada Antineoplásica/uso terapêutico , Biópsia , Quimiorradioterapia , Feminino , Humanos , Imuno-Histoquímica , Linfoma Anaplásico de Células Grandes/genética , Linfoma Anaplásico de Células Grandes/patologia , Linfoma Anaplásico de Células Grandes/terapia , Sarcoma/genética , Sarcoma/patologia , Sarcoma/terapia , Neoplasias Cutâneas/genética , Neoplasias Cutâneas/patologia , Neoplasias Cutâneas/terapiaAssuntos
Criptococose/diagnóstico por imagem , Pálpebras/patologia , Pneumopatias Fúngicas/diagnóstico por imagem , Adulto , Antifúngicos/uso terapêutico , Criptococose/tratamento farmacológico , Humanos , Pneumopatias Fúngicas/tratamento farmacológico , Masculino , Tomografia Computadorizada por Raios XRESUMO
Dyschromatosis symmetrica hereditaria (DSH) is a pigmentary genodermatosis of autosomal dominant inheritance characterized by a mixture of hyperpigmented and hypopigmented macules distributed on the dorsal aspects of the hands and feet. Genetic studies have identified mutations in ADAR1 gene to be responsible for this disorder. We detected two mutations in two families with DSH, which include a heterozygous g-->a transversion at the first base of the 3'-acceptor splice site of intron 5 (c. 2080-1g>a, IVS5-1g>a) and a transition c.3076C>T. IVS5-1g>a should prevent proper splicing of the transcript while c.3076C>T leading to a missense mutation p.R1026W of the ADAR1 gene. Our study suggests that splice site mutation IVS5-1g>a and missense mutation p.R1026W are new mutations of ADAR1 gene, which should be useful in genetic counseling and prenatal diagnosis for the affected families and expanding the database on ADAR1 gene mutations in DSH.
