C. Requena, V. Traves, E. Ferrandis, M. Antón Almero, Z. García-Casado, E. Manrique-Silva, Á. Santos Briz, P. Escalonilla, and E. Nagore
Subjects
Melanoma in blue nevus, Plaque-type blue nevus, Dermal melanocytosis, BAP1, Dermatology, RL1-803, Internal medicine, RC31-1245
Abstract
Resumen: El melanoma sobre nevus azul o melanoma ex-blue nevus es una variedad de melanoma peculiar que tiene un perfil genético diferente al del resto de los melanomas cutáneos y sorprendentemente superponible al perfil del melanoma uveal. Aunque puede aparecer de novo, el melanoma ex-blue nevus se suele desarrollar sobre un nevus azul previo o sobre una melanocitosis dérmica. No todas las lesiones nodulares desarrolladas sobre un nevus azul o una melanocitosis dérmica son melanomas, y los hallazgos clínicos e histológicos pueden ser insuficientes para llegar a un diagnóstico de certeza. Así, cobran relevancia estudios adicionales, como la hibridación genómica comparada, pues la presencia de aberraciones cromosómicas favorece el diagnóstico de malignidad. Es de especial utilidad el estudio del gen BAP1, cuya pérdida de expresión orienta a melanoma en este espectro de lesiones. Presentamos 3 casos del espectro nevus azul a melanoma ex-blue nevus con estudios de biología molecular. Abstract: Melanoma arising in blue nevus, also known as melanoma ex blue nevus, is a specific form of melanoma whose genetic profile is different to that of other cutaneous melanomas and surprisingly similar to that of uveal melanoma. Although melanoma ex blue nevus can appear de novo, it usually arises in a preexisting blue nevus or dermal melanocytosis. Not all nodular lesions arising in association with blue nevus or dermal melanocytosis are melanomas, however, and because clinical and histologic findings may be insufficient for a definitive diagnosis, additional studies such as comparative genomic hybridization are important. Detection of chromosomal aberrations supports a diagnosis of malignancy. Studies of the BAP1 gene are particularly useful in this setting because loss of expression is indicative of melanoma. We present 3 cases on the spectrum of blue nevus to melanoma ex blue nevus that were studied using molecular biology techniques.
C. Requena, V. Traves, E. Ferrandis, M. Antón Almero, Z. García-Casado, E. Manrique-Silva, Á. Santos Briz, P. Escalonilla, and E. Nagore
Subjects
Melanoma sobre sobre nevus azul, Nevus azul en placa, Melanocitosis dérmicas, BAP1, Dermatology, RL1-803, Internal medicine, RC31-1245
Abstract
Melanoma arising in blue nevus, also known as melanoma ex blue nevus, is a specific form of melanoma whose genetic profile is different to that of other cutaneous melanomas and surprisingly similar to that of uveal melanoma. Although melanoma ex blue nevus can appear de novo, it usually arises in a pre-existing blue nevus or dermal melanocytosis. Not all nodular lesions arising in association with blue nevus or dermal melanocytosis are melanomas, however, and because clinical and histologic findings may be insufficient for a definitive diagnosis, additional studies such as comparative genomic hybridization are important. Detection of chromosomal aberrations supports a diagnosis of malignancy. Studies of the BAP1 gene are particularly useful in this setting because loss of expression is indicative of melanoma. We present 3 cases on the spectrum of blue nevus to melanoma ex blue nevus that were studied using molecular biology techniques. Resumen: El melanoma sobre nevus azul o melanoma ex-blue nevus es una variedad de melanoma peculiar que tiene un perfil genético diferente al del resto de los melanomas cutáneos y sorprendentemente superponible al perfil del melanoma uveal. Aunque puede aparecer de novo, el melanoma ex-blue nevus se suele desarrollar sobre un nevus azul previo o sobre una melanocitosis dérmica. No todas las lesiones nodulares desarrolladas sobre un nevus azul o una melanocitosis dérmica son melanomas, y los hallazgos clínicos e histológicos pueden ser insuficientes para llegar a un diagnóstico de certeza. Así, cobran relevancia estudios adicionales, como la hibridación genómica comparada, pues la presencia de aberraciones cromosómicas favorece el diagnóstico de malignidad. Es de especial utilidad el estudio del gen BAP1, cuya pérdida de expresión orienta a melanoma en este espectro de lesiones. Presentamos tres casos del espectro nevus azul a melanoma ex-blue nevus con estudios de biología molecular.
Beato Merino, M.J., Diago, A., Fernandez-Flores, A., Fraga, J., García Herrera, A., Garrido, M., Idoate Gastearena, M.A., Llamas-Velasco, M., Monteagudo, C., Onrubia, J., Pérez-González, Y.C., Pérez Muñoz, N., Ríos-Martín, J.J., Ríos-Viñuela, E., Rodríguez Peralto, J.L., Rozas Muñoz, E., Sanmartín, O., Santonja, C., Santos-Briz, A., Saus, C., Suárez Peñaranda, J.M., and Velasco Benito, V.
Tejera-Vaquerizo, Antonio, Fernández-Figueras, María Teresa, Santos-Briz, Ángel, Ríos-Martín, Juan José, Monteagudo, Carlos, Fernández-Flores, Ángel, Requena, Celia, Traves, Victor, Descalzo-Gallego, Miguel Ángel, and Rodríguez-Peralto, José Luis
Reticular telangiectatic erythema is a benign dermatosis which has been described on patients with pacemakers, implantable devices or materials inserted in their body. Etiology of this entity hasn't been clarified since the first description in 1981 but it is suggested that physical or mechanical factors have to be involved.We present the second case of bilateral reticular telangiectatic erythema by breast implants described in the literature.
The article discusses ten cases of 'vasculitis-like' purpuric plaques with a necrotic center that appeared after follicular unit excision (FUE) hair transplantation surgery, a phenomenon not previously described in the literature. The patients, from five trichology and hair transplantation units in Spain, experienced lesions that clinically resembled leukocytoclastic vasculitis, but all resolved spontaneously within 14 days without complications. The histopathologic study ruled out vasculitis, suggesting that trauma to blood vessels during the FUE procedure or thermal damage may have caused the lesions. The authors emphasize the importance of accurate diagnosis by dermatologists to prevent unnecessary aggressive treatments for this benign and self-resolving condition. [Extracted from the article]
Background Risk stratification of cutaneous squamous cell carcinoma (cSCC) is essential for managing patients. Objectives To determine if artificial intelligence and machine learning might help to stratify patients with cSCC by risk using more than solely clinical and histopathological factors. Methods We retrieved a retrospective cohort of 104 patients whose cSCCs had been excised with clear margins. Clinical and histopathological risk factors were evaluated. Haematoxylin and eosin-stained slides were scanned and analysed by an algorithm based on the stacked predictive sparse decomposition technique. Cellular morphometric biomarkers (CMBs) were identified via machine learning and used to derive a cellular morphometric risk score (CMRS) that classified cSCCs into clusters of differential prognoses. Concordance analysis, sensitivity, specificity, positive predictive value (PPV), negative predictive value (NPV) and accuracy were calculated and compared with results obtained with the Brigham and Women's Hospital (BWH) staging system. The performance of the combination of the BWH staging system and the CMBs was also analysed. Results There were no differences among the CMRS groups in terms of clinical and histopathological risk factors and T-stage assignment, but there were significant differences in prognosis. Combining the CMRS with BWH staging systems increased distinctiveness and improved prognostic performance. C-indices were 0.91 local recurrence and 0.91 for nodal metastasis when combining the two approaches. The NPV was 94.41% and 96.00%, the PPV was 36.36% and 41.67%, and accuracy reached 86.75% and 89.16%, respectively, with the combined approach. Conclusions CMRS is helpful for cSCC risk stratification beyond classic clinical and histopathological risk features. Combining the information from the CMRS and the BWH staging system offers outstanding prognostic performance for patients with high-risk cSCC. [ABSTRACT FROM AUTHOR]
Seguí, Mireia, Rodríguez‐Jiménez, Pedro, Fraga, Javier, Navas, José, Ríos, Juan José, Revilla, David, Santos‐Briz, Ángel, Lluch, Juan José, Fernández Figueras, María Teresa, Luque, Mar, and Llamas Velasco, Mar
Background: Pancreatic panniculitis is a rare form of panniculitis generally associated with acute or chronic pancreatitis, and less frequently with pancreatic carcinoma. Clinically, it presents with subcutaneous nodules usually located in the lower extremities, however, it presents an almost pathognomonic histopathological finding with enzymatic fat necrosis in the adipose tissue. Methods: In this retrospective case series of five hospitals, biopsy specimens of cutaneous lesions of pancreatic panniculitis were reviewed. Clinical information was obtained through medical records. Results: A total of 34 cases were included, 23 women and 11 men, aged between 31 and 92 years. The most common associated pancreatic disease was acute pancreatitis (23 cases) and its main triggering cause was gallstones (17 cases). In two patients it was related to chronic pancreatitis and six cases were associated with malignancy. Histopathological findings were always the key to diagnosis. In the biopsies reviewed, mostly lobular panniculitis with the characteristic necrosis of the adipocytes was observed. In addition, nine of the cases presented with Splendore–Hoeppli phenomenon. Conclusions: We present the largest series of pancreatic panniculitis. Clinically, the female predominance and biliary lithiasis as the main cause of acute pancreatitis are to be emphasized. Histopathologically, a peripheral eosinophilic striated rim surrounding aggregates of ghost adipocytes consistent with Splendore–Hoeppli is an additional clue to its diagnosis. [ABSTRACT FROM AUTHOR]
Riveiro-Falkenbach, Erica, Villanueva, Cándida A., Garrido, María C., Ruano, Yolanda, García-Martín, Rosa M., Godoy, Elena, Ortiz-Romero, Pablo L., Ríos-Martín, Juan J., Santos-Briz, Angel, and Rodríguez-Peralto, José L.
Mª Carmen Herrero-Sánchez, Concepción Rodríguez-Serrano, Julia Almeida, Laura San Segundo, Susana Inogés, Ángel Santos-Briz, Jesús García-Briñón, Luis Antonio Corchete, Jesús F. San Miguel, Consuelo del Cañizo, and Belén Blanco
Subjects
Hematopoietic stem cell transplantation, Graft-versus-host disease, T cell, PI3K/AKT/mTOR pathway, PI3K inhibitor, Diseases of the blood and blood-forming organs, RC633-647.5, Neoplasms. Tumors. Oncology. Including cancer and carcinogens, RC254-282
Abstract
Abstract Background Graft-versus-host disease (GvHD) remains the major obstacle to successful allogeneic hematopoietic stem cell transplantation, despite of the immunosuppressive regimens administered to control T cell alloreactivity. PI3K/AKT/mTOR pathway is crucial in T cell activation and function and, therefore, represents an attractive therapeutic target to prevent GvHD development. Recently, numerous PI3K inhibitors have been developed for cancer therapy. However, few studies have explored their immunosuppressive effect. Methods The effects of a selective PI3K inhibitor (BKM120) and a dual PI3K/mTOR inhibitor (BEZ235) on human T cell proliferation, expression of activation-related molecules, and phosphorylation of PI3K/AKT/mTOR pathway proteins were analyzed. Besides, the ability of BEZ235 to prevent GvHD development in mice was evaluated. Results Simultaneous inhibition of PI3K and mTOR was efficient at lower concentrations than PI3K specific targeting. Importantly, BEZ235 prevented naïve T cell activation and induced tolerance of alloreactive T cells, while maintaining an adequate response against cytomegalovirus, more efficiently than BKM120. Finally, BEZ235 treatment significantly improved the survival and decreased the GvHD development in mice. Conclusions These results support the use of PI3K inhibitors to control T cell responses and show the potential utility of the dual PI3K/mTOR inhibitor BEZ235 in GvHD prophylaxis.
Javier Cañueto, David Revilla-Nebreda, Alberto Conde-Ferreirós, Angel Santos-Briz, Concepción Román-Curto, David Moyano-Bueno, Leonor Revelles-Peñas, Sara Becerril-Andrés, and Instituto de Salud Carlos III
[Background]: Acantholytic cutaneous squamous cell carcinomas (aCSCCs) have been classically considered as a high-risk variant of CSCC. However, more recent studies show that aCSCC does not confer more aggressiveness. This study aims to establish whether the prognosis of the aCSCC is worse than that of the non-acantholytic (naCSCC) or not. [Methods]: Retrospective case-control study with 50 aCSCCs and 50 naCSCCs. For each aCSCC, an naCSCC with similar high-risk features to the aCSCC but with no acantholysis was selected. Prognosis between both groups was compared. [Results]: The mean age was 86 years (SD 9.61). Sixty-one patients were men. Thirty-nine CSCCs were located in high-risk head and neck areas. Twenty CSCCs exhibited a poor degree of differentiation, and 36 showed an infiltrative growth pattern. The tumor diameter was 18.71 mm (interquartile range, IQR 35), and the tumor thickness was 6.72 mm (IQR 15.50). Twelve CSCCs exhibited perineural infiltration, and eight CSCCs exhibited invasion beyond the subcutaneous fat. Positive margins after excision of the tumor in 22 aCSCCs vs eight naCSCCs (P, Instituto de Salud Carlos III, Grant/Award Number: PI18/000587
Rodríguez-Peralto, José Luis, Espinosa, Enrique, Ríos-Martín, Juan José, Berrocal, Alfonso, Lozano, María Dolores, Arance, Ana, Santos-Briz, Angel, López-Martín, José Antonio, Fernández-Figueras, María Teresa, and Martín-Algarra, Salvador
Neuroendocrine (NE) tumors represent a heterogeneous group of neoplasms.[1] Merkel cell carcinoma (MCC) is an uncommon and highly aggressive primary cutaneous NE carcinoma, usually involving the head and neck of elderly patients. This tumor has a high percentage of lymph-node metastases (>60%) and a rate of distant metastases exceeding 40% but skin-located metastases are unusual. Cutaneous metastasis of mixed neuroendocrine, sarcomatous, and squamous rectal carcinoma mimicking a Merkel cell polyomavirus-negative Merkel cell carcinoma. [Extracted from the article]
Martín-Algarra, S., Fernández-Figueras, M. T., López-Martín, J. A., Santos-Briz, A., Arance, A., Lozano, M. D., Berrocal, A., Ríos-Martín, J. J., Espinosa, E., and Rodríguez-Peralto, J. L.
Https://doi.org/10.1093/ced/llac079 Dear Editor, We read with interest the paper published in I Clinical and Experimental Dermatology i by Kurihara I et al i . describing a patient with diffuse plane xanthoma arising from regressed tumours of folliculotropic mycosis fungoides (MF). PUVA might have accelerated galectin-7 expression and rendered the lesions ready to generate NCXs
74
F
Normolipaemic
Tumour-stage MF
1 year
Diffuse plane xanthomas around brownish-red nodules MF lesions; foamy histiocytes
After PUVA treatment. 201211
37
M
Hypercholesterolaemia and hypertriglyceridaemia
Patch-stage MF
10 years
Yellowish discolouration of MF patches; foamy histiocytes
Yellowish discolouration of MF patches developed gradually over the previous 2 years before MF diagnosis. PUVA might have accelerated galectin-7 expression and rendered the lesions ready to generate NCXs
74
F
Normolipaemic
Tumour-stage MF
1 year
Diffuse plane xanthomas around brownish-red nodules MF lesions; foamy histiocytes
After PUVA treatment. [Extracted from the article]
SQUAMOUS cell carcinoma, HUMAN papillomavirus, CLINICAL pathology, FINGERS, RETROSPECTIVE studies
Abstract
Background High-risk mucosal human papillomavirus (HR-HPV) seems to play a role in cutaneous squamous cell carcinoma (cSCC), particularly in nail tumours, where genitodigital transmission has been suggested. The role of HR-HPV in nonungual cSCC of the finger needs to be clarified. Aim To evaluate the prevalence, clinicopathological characteristics, surrogates and outcomes of HR-HPV in cSCC of the finger. Methods This was an observational bicentric study including patients with an excised in situ or invasive cSCC located on the finger. Differences in HR-HPV and non-HR-HPV tumours were evaluated. Results Forty-five patients (45 tumours) were included. HR-HPV was detected in 33% of cases (22% HPV type 16). The mean age was lower in patients with HR-HPV than in those with non-HR-HPV (62·4 vs. 81·1 years, P = 0·001). HR-HPV tumours were smaller (10 mm vs. 15 mm, P = 0·07) and more frequently intraepidermal (60% vs. 20%, P = 0·004). The absence of elastosis (P = 0·030) and inflammation (P = 0·026) and the presence of basaloid morphology (P = 0·003) were surrogates of HR-HPV detection. Mean p16 positivity was 61% in HR-HPV and 36% in non-HR-HPV tumours (P = 0·061). Recurrence after surgery was more common in HR-HPV tumours (58% vs. 34%), although this was not statistically significant. HR-HPV was detected in 27% of the nonungual tumours. Conclusion HR-HPV-associated cSCC of the finger appears in younger patients, is smaller and is less infiltrative than non-HR-HPV tumours. The presence of a basaloid morphology and the absence of elastosis and inflammation could be used as markers for HR-HPV detection. The high prevalence of HR-HPV in nonungual cSCC suggests its aetiopathogenic role in these tumours. [ABSTRACT FROM AUTHOR]
Leone, Paola E., González, M. Belén, Elosua, Carolina, Gómez-Moreta, Juan A., Lumbreras, Eva, Robledo, Cristina, Santos-Briz, Angel, Valero, José Maria, de la Guardia, Rafael Díaz, Gutiérrez, Norma C., Hernández, Jesús M., and García, Juan L.
González-González, María, Fontanillo, Celia, Abad, María M., Gutiérrez, María L., Mota, Ines, Bengoechea, Oscar, Santos-Briz, Ángel, Blanco, Oscar, Fonseca, Emilio, Ciudad, Juana, Fuentes, Manuel, De Las Rivas, Javier, Alcazar, José A., García, Jacinto, Muñoz-Bellvis, Luís, Orfao, Alberto, and Sayagués, José M.