Different mutational profiles of subcutaneous panniculitis-like T-cell lymphoma and lupus panniculitis: an additional case series.

BACKGROUND AND OBJECTIVE: subcutaneous panniculitis-like T-cell lymphoma (SPTCL) is a rare cytotoxic T-cell lymphoma with indolent behavior, mostly present in women and associated with immunological diseases whose pathogenic background is still poorly understood. SPTCL is associated with lupus erythematosus panniculitis (LEP) and histologically misdiagnosed. OBJECTIVES: the aim of our study was to identify mutations affecting the pathogenesis of both SPTCL and LEP. MATERIALS AND METHODS: we studied a total of 10 SPTCL and 10 LEP patients using targeted Next Generation Sequencing and pyrosequencing. Differences in gene expression between molecular subgroups were investigated using NanoString technology. Clinical data were collected, and correlations sought with the molecular data obtained. RESULTS: the mutational profile of SPTCL and LEP is different. We identified fewer pathogenic mutations than previously reported in SPTCL, noting a single HAVCR2-mutated SPTCL case. Interestingly, 40% of our SPTCL cases showed the pathogenic TP53 (p.Pro72Arg) (P72R) variant. Although cases showing HAVCR2 mutations or the TP53 (P72R) variant had more severe symptomatic disease, none developed hemophagocytic syndrome (HPS). Furthermore, TP53 (P72R)-positive cases were characterized by a lower metabolic signaling pathway and higher levels of CD28 expression and Treg signaling genes. In addition, 30% of our cases featured the same mutation (T735C) of the epigenetic modificatory gene DNMT3A. None of the LEP cases showed mutations in any of the studied genes. CONCLUSIONS: the mutational landscape of SPTCL is broader than previously anticipated. We describe, for the first time, the involvement of the TP53 (P72R) pathogenic variant in this subgroup of tumors, consider the possible role of different genetic backgrounds in the development of SPTCL, and conclude that LEP does not follow the same pathogenic pathway as SPTCL.

Osteomielitis aséptica craneal asociada a pioderma gangrenoso / Cranial aseptic osteomyelitis associated with pyoderma gangrenosum

Las dermatosis neutrofílicas (DN) constituyen un grupo heterogéneo de enfermedades. Excepcionalmente, las DN pueden acompañarse de acúmulos de neutrófilos estériles en otros tejidos distintos a la piel. Una paciente de 34 años consultó por una cefalea que no respondía al tratamiento analgésico. Una TAC demostró una lesión osteolítica a nivel parietal derecho, cuyo estudio histopatológico sugería una osteomielitis. Un año después del inicio de la cefalea desarrolló un pioderma gangrenoso en cara anterior de ambas piernas. Tras tratamiento con corticoterapia sistémica se resolvieron las lesiones cutáneas y la cefalea. La afectación ósea en las dermatosis neutrofílicas es excepcional. Habitualmente afecta a la población infantil en el contexto de una osteomielitis crónica recurrente multifocal (OCRM). Solo se han descrito dos casos en adultos, una paciente de 26 años, con una OCRM desde la infancia, y un varón de 67 años que desarrolló una osteomielitis aséptica en continuidad de un pioderma gangrenoso (AU)

Neutrophilic dermatoses include a heterogeneous group of entities. Uncommonly, they can accumulate aseptic neutrophilic abscesses in other tissues in addition to the skin. A 34-year-old female complained of a headache which was unresponsive to usual drugs. A TAC revealed an osteolytic lesion in the right parietal bone. The biopsy showed osteomyelitis. One year later, pyoderma gangrenosum appeared in the anterior aspect of both legs. The headache and the cutaneous lesions disappeared after treatment with oral prednisone. The bone involvement in the background of neutrophilic dermatoses is exceptional. Usually, it involves children in the context of chronic recurrent multiple osteomyelitis (CRMO). Only two cases have been described in adults. One of them was a 26-year-old woman who had had CRMO since childhood, and the other one in contiguity with the cutaneous lesions of pyoderma gangrenosum (AU)

Hipertensión arterial de reciente diagnóstico secundaria a síndrome de Cushing ectópico agudo: presentación de un caso / Recently diagnosed hypertension secondary to acute ectopic Cushing's syndrome: a case study

Se trata de un hombre de 73 años que ingresó en nuestro hospital para evaluación de debilidad generalizada, hipertensión arterial de reciente comienzo e hipocaliemia. Durante su estancia hospitalaria se demostró hipocaliemia intensa y refractaria, reacción leucoeritroblástica en sangre periférica y enfermedad pulmonar intersticial. La actividad de renina plasmática basal y aldosteronemia fueron normales y los valores de hormona adrenocorticotrópica (ACTH) y cortisol en orina mostraron criterios bioquímicos de síndrome de Cushing ACTH-dependiente. Por biopsia de médula ósea se demostró metástasis de carcinoma de células pequeñas de probable origen pulmonar, y tras ello se procedió a seguimiento paliativo. Se comenta la rareza del síndrome y las peculiaridades de la asociación de hipertensión arterial con hipocaliemia (AU)

[Invasive infection by Aspergillus terreus treated successfully with liposomal amphotericin B]. / Infección invasiva por Aspergillus terreus tratada con éxito con anfotericina B liposomal.

A woman of 75 years old was admitted at our hospital for evaluation of worsening and weakness in inferior limbs. Several vertebral fractures by crushing, one doubtful discitis, an infiltrate with cavitation in the right superior lobe and one infiltrate in the left superior lobe were detected. In the biopsy of the consolidation a filamentous fungus was watched and in the bronchial washing specimen culture grew Aspergillus terreus. The infiltrates disappeared with liposomal Amphotericin B remaining with oral Itraconazol during three months more. The clinical and analytical data demonstrate the existence of a Overlap syndrome associate to antiphospholipid-antibody syndrome. We comment the peculiarity of the infection by Aspergillus terreus in patients who have not been in critical care and the good response at treatment with liposomal Amphotericin B. It contrasts with the high mortality referred in a recent review. Other aspects to comment are the coexistence with a collagen vascular and an antiphospholipid-antibody syndrome with the higher titles of IgM ACA that we have found in literature.

Hemorragia digestiva como forma de presentación de hipernefroma diseminado con metástasis gástricas / Digestive bleeding as the clinical presentation of disseminated renal-cell cancer with gastric metastases

Una mujer de 70 años ingresó en nuestro hospital para evaluación de melenas y anemización. Tres meses antes, en relación con la detección de síndrome anémico, se le realizó una endoscopia digestiva alta, y se practicó exéresis de un pólipo gástrico pequeño. Durante su estancia hospitalaria se le realizaron diversos estudios, y la ecografía y la tomografía computarizada abdominal revelaron una gran masa sobre el polo superior de riñón derecho, con una biopsia compatible con carcinoma de células renales. Una nueva endoscopia digestiva alta reveló la presencia de pequeños pólipos gástricos y mucosa duodenal anacarada. En la colonoscopia se apreció una sigmoiditis inespecífica. La biopsia de la mucosa gástrica y de la masa abdominal mostró la presencia de células claras como expresión de carcinoma renal. Se comenta la rareza de las metástasis gástricas de carcinoma renal, así como su inicio como hemorragia digestiva (AU)