Cranial aseptic osteomyelitis associated with pyoderma gangrenosum.

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.

Subcutaneous panniculitis-like T-cell lymphoma, lupus erythematosus profundus, and overlapping cases: molecular characterization through the study of 208 genes.

Subcutaneous panniculitis-like T-cell lymphoma (SPTCL) is a rare cytotoxic cutaneous lymphoma. Differential diagnosis with lupus erythematosus panniculitis (LEP) can be challenging and overlapping cases have been described. In this study, we investigate whether gene expression profiling may or not identify markers that can be used to improve our understanding of the disease and to make a precise differential diagnosis. SPTCL, LEP, and overlapping cases were analyzed using a customized NanoString platform including 208 genes related to T-cell differentiation, stromal signatures, oncogenes, and tumor suppressor genes. Gene expression unsupervised analysis of the samples differentiated SPTCL from LEP samples. Most overlapping cases were clustered with LEP cases. Differentially expressed genes were observed when comparing SPTCL with LEP cases; and overlapping with LEP cases. Gene set enrichment analysis recognized gene sets defining each group. In conclusion, SPTCL and LEP have distinctive molecular profiles and the molecular background of overlapping cases more closely resembles LEP.

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

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.

Lymphoplasmacytic lymphoma associated with diffuse large B-cell lymphoma: Progression or divergent evolution?

AIM: Lymphoplasmacytic lymphoma (LPL) is an indolent mature B-cell-neoplasm with involvement of the bone marrow. At least 90% of LPLs carry MYD88-L265P mutation and some of them (~10%) transform into diffuse large B-cell-lymphoma (DLBCL). MATERIAL AND METHODS: Over the past 15 years we have collected 7 cases where the both LPL and DLBCL were diagnosed in the same patient. Clinical records, analytical data and histopathological specimens were reviewed. FISH studies on paraffin-embedded tissue for MYC, BCL2 and BCL6 genes were performed, as well as MYD88-L265P mutation and IGH rearrangement analysis by PCR. A mutational study was done by massive next generation sequencing (NGS). RESULTS: There were 4 women and 3 men between 36-91 years of age. Diagnoses were made simultaneously in 4 patients. In two cases the LPL appeared before the DLBCL and in the remaining case the high-grade component was discovered 5 years before the LPL. In 6 cases both samples shared the MYD88-L265P mutation. IGH rearrangement analysis showed overlapping features in two of 6 cases tested. Mutational study was evaluable in three cases for both samples showing shared and divergent mutations. CONCLUSIONS: These data suggest different mechanisms of DLBCL development in LPL patients.

Primary cutaneous CD4+ small/medium-sized pleomorphic T-cell lymphoma expresses follicular T-cell markers.

Cutaneous CD4 small/medium-sized pleomorphic T-cell lymphoma (CSTCL) is a cutaneous T-cell lymphoma defined by a predominance of small-to-medium-sized CD4 pleomorphic T cells, with a favorable clinical course. Cases are also characterized by the presence of a rich infiltrate of reactive B cells. Recently, it has been reported that follicular helper T cells (TFH cells) display a distinct gene expression profile, positive for PD-1, CXCL13, and BCL-6. We report for the first time the expression of PD-1 and other TFH cell markers in CSTCLs and discuss its biologic significance. Sixteen CSTCLs were included in this study, and also 20 reactive inflammatory conditions, 10 primary cutaneous marginal zone, 10 follicular center lymphomas, and 5 primary CD30 cutaneous lymphomas. They were immunohistochemically analyzed for a large panel of markers. Double immunoperoxidase labeling of paraffin sections was performed for PD-1, OCT-2, and BCL-6. Clonal Ig and T-cell receptor rearrangements and Epstein-Barr virus-encoded RNA expression were also evaluated. Morphologic and clinical data were reviewed. Histologic examination showed a dense polymorphic lymphoid infiltrate throughout the dermis. Atypical large CD4 cells were positive for PD-1, CXCL13, and BCL-6 in all cases, and were attached in small clusters, or formed rosettes around CD30/OCT-2+ B blast cells. Epstein-Barr virus was not apparent in any of the cases. A dominant T-cell clone was identified in 14 cases, whereas polymerase chain reaction IgH gene rearrangement studies showed that all cases were polyclonal. None of the patients had lymphadenopathy or showed any evidence of systemic disease, nor did they have any previous history of mycosis fungoides or drug reactions. FTH cell markers are not exclusive to angioimmunoblastic lymphadenopathy but may also be seen in neoplastic cells of CSTCLs. Moreover, these findings suggest that B-cell stimulation by FTH could also take place in some cutaneous T-cell lymphomas.

Epirubicin, cyclophosphamide and weekly paclitaxel as neoadjuvant chemotherapy for stage II and III breast cancer.

PURPOSE: To assess the efficacy and the toxicity of a new combination of epirubicin, cyclophosphamide and paclitaxel as neoadjuvant chemotherapy for breast cancer. METHODS: Patients with stage II and III breast cancer received 3-4 cycles of epirubicin 75 mg/m(2) plus cyclophosphamide 600 mg/m(2) on day 1, and paclitaxel at a dose of 100 mg on days 1, 8, 15 and 22 on a 28-day cycle. RESULTS: Forty-nine patients were enrolled in the study. Stage II was present in 16 patients (32.7%) and stage III in 33 patients (67.3%). Relevant toxicities were nausea/vomiting grades III-IV in 6 patients (12.2%) and neutropenia grade III-IV in 33 patients (67.3%). The overall clinical response rate was 83.7%. Partial response was observed in 25 patients (51%), complete response in 16 patients (32.7%), stable disease in 7 patients (14.3%) and progression in 1 patient. Thirty-three non-inflammatory breast cancer patients underwent surgery, 29 with breast-conserving surgery (87.9%). Pathological complete response was found in 5 patients (15.1%). CONCLUSIONS: The combination of epirubicin, cyclophosphamide and weekly paclitaxel as given in this study is safe and shows good activity in the neoadjuvant setting of stage II and III breast cancer patients.