Dermatofibrosarcoma protuberans (DFSP) is an infiltrative cutaneous sarcoma characterized histologically by spindle cells arranged in a storiform pattern, which has a high local recurrence rate but the low metastatic rate and mortality.1 Several uncommon subtypes of DFSP have been described,2 such as atrophic pigmented dermatofibrosarcoma protuberans, which are extremely rare and much more difficult to identify clinically. Here, we described a 28-year-old female of atrophic pigmented dermatofibrosarcoma protuberans. The patient presented with a slightly depressed, bluish-black lesion on her back near the waist that had been slowly progressing for 20 years and did not receive any treatment. She was healthy and denied systemic symptoms or relevant family history. On dermatological examination, there was a soft, 3 × 1.4 cm, bluish-black, slightly depressed plaque on the left back near the waist, and subcutaneous capillaries visible (Figure 1A). Histopathological analysis on low-power view revealed fascicles of densely packed spindle cells extending around fat tissue with a reduced dermal thickness (Figure 1B). The monomorphic spindle cells had elongated darkly staining nuclei and bland cytoplasm (Figure 1C). Scattered pigmented cells were also noticed (Figure 1D). Immunohistochemical staining of spindle cells was positive for CD34 (Figure 1E), while negative for CD3, CD20, Desimin, and S-100 (Figure 1F-I). Based on the clinicopathological features, a diagnosis of atrophic pigmented DFSP was made, and wide local excision was performed. The pigmented and atrophic variants of DFSP are rare, accounting for <5%3 and 1.7% [1] of all cases, respectively. And atrophic pigmented dermatofibrosarcoma protuberans are extremely rare. The atrophic variant usually appears as a depressed plaque rather than protuberant nodules which is easily misdiagnosed. Pigmented dermatofibrosarcoma protuberans, also known as Bednar tumors, usually present as a bluish-black discoloration similar to a bruise, which develops into a slow-growing, painless plaque or tumor.4 In our case, the patient had the features of both pigmented and atrophic DFSP in the same lesion by immunopathogenesis, so the diagnosis of atrophic pigmented dermatofibrosarcoma protuberans was established. So far, eight cases of atrophic pigmented dermatofibrosarcoma protuberans in addition to ours have been reported in PubMed from 1997 till now (Table 1).2, 3, 5-8 Various misdiagnoses were considered because of their atypical clinical presentations, such as lipoatrophy, hemangioma, hyperpigmentation, and neurofibroma.6, 9, 10 In our case, a misdiagnosis of lipoatrophy was made at the initial visit. DFSP typically occurs in young- to middle-aged adults. The epidemiology of DFSP has no sex difference, and the vast majority occurred in the trunk or extremities.1 In these eight cases, the female:male ratio is 5:3. Trunk (5/8) and extremities (2/8) are the most frequently involved sites. DFSP has characteristic morphology, of storiform islands of bland spindle cells, and immunohistochemically, it shows diffuse positivity of CD34. The mainstay of treatment is surgical excision, either wide local excision (WLE) or Mohs micrographic surgery (MMS). Other treatments include targeted immunotherapy and radiotherapy. DSFP have a high local recurrence rate and need close clinical follow-up. In our case, local enlarged resection with a surgical margin of about 3 cm was used and is still in follow-up. In conclusion, atrophic pigmented dermatofibrosarcoma protuberans have a relatively good prognosis. The diagnosis relies strongly on clinicopathologic correlation. Generally, due to the atypical clinical manifestations of atrophic pigmented DFSP, which is frequently neglected by the patients and easily misdiagnosed as benign lesions as in our case. So, we should be aware of DFSP in the early stage. Post-inflammatory Hyperpigmentation This work was sponsored by grants from the National Natural Science Foundation of China (No. 81803120, 82073429, 82273510, 82173405, 82103714, 82103713), Shanghai Tenth People's Hospital Pan Deng Ren Cai Foundation 2021SYPDRC025. Innovation Program of Shanghai Municipal Education Commission (No. 2019-01-07-00-07-E00046), Clinical Research Plan of SHDC (No. SHDC2020CR1014B), and Program of Shanghai Academic Research Leader (No. 20XD1403300). All the authors in the text and we also greatly appreciate the patient in this manuscript who has given written informed consent to publication of the case. We (all authors) declare no conflict of interest. The data that support the findings of this study are openly available in figshare at http://doi.org/10.1111/jocd.15960.
Abstract Blastic plasmacytoid dendritic cell neoplasm (BPDCN) is a rare hematologic malignancy with poor outcomes with conventional therapy. Nearly 100% of BPDCNs overexpress interleukin 3 receptor subunit alpha (CD123). Given that CD123 is differentially expressed on the surface of BPDCN cells, it has emerged as an attractive therapeutic target. UCART123 is an investigational product consisting of allogeneic T cells expressing an anti-CD123 chimeric antigen receptor (CAR), edited with TALEN ® nucleases. In this study, we examine the antitumor activity of UCART123 in preclinical models of BPDCN. We report that UCART123 have selective antitumor activity against CD123-positive primary BPDCN samples (while sparing normal hematopoietic progenitor cells) in the in vitro cytotoxicity and T cell degranulation assays; supported by the increased secretion of IFNγ by UCART123 cells when cultured in the presence of BPDCN cells. UCART123 eradicate BPDCN and result in long-term disease-free survival in a subset of primary patient-derived BPDCN xenograft mouse models. One potential challenge of CD123 targeting therapies is the loss of CD123 antigen through diverse genetic mechanisms, an event observed in one of three BPDCN PDX studied. In summary, these results provide a preclinical proof-of-principle that allogeneic UCART123 cells have potent anti-BPDCN activity.
A 66-year-old female complained of a lesion on her left leg for about one and a half years.She was diagnosed as eczema one month ago and topical halometasone cream was used but without effects.The biopsy showed basaloid cells on the epidermis were bud-like extending down into dermis and atypical nucleus were seen.The diagnosis of superficial basal cell carcinoma was confirmed.The lesion was completely excised with no recurrence in 3 months follow-up.
ANTXR2 as the protein binding to collagen IV and laminin, may be involved in extracellular matrix adhesion. GWAS study in European had found its SNPs has relationship with ankylosing spondylitis, but these variations were not related to Chinese people.
Objectives
In this study, we would find susceptibility locus in ANTXR2 associated with ankylosing spondylitis.
Methods
After the haplotype analysis from the 1000 Genomes Project data, we chose tags SNPs validated on 254 cases and 170 matched controls through Mass Spectrometry method. The patients were diagnosed accoding to the Modified New York Criteria for Ankylosing Spondylitis (1984).
Results
In 197 Chinese people from the 1000genome database, there are 16 Haplotype blocks of ANTXR2 gene. 5 SNPs were verified (rs78740643, rs11098964, rs28688624, rs4389526 and rs7689197) by mass spectrometry. Case/control association analysis showed rs11098964 having relationship with AS (P=0.01721, OR (95% CI) = 0.4793 (0.2554–0.8621)). Dominant model of rs11098964 were significant difference from controls (P=0.0109).
Conclusions
our study found the rs11098964 also has relationship with AS. rs11098964 was protective against AS. ANTXR2 is related to susceptibility to AS
References
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In order to reduce the immunogenicity of murine monoclonal antibody (MAb) to human beings.The cDNA encoding the variable regions of the mouse MAb SZ-51, which is specific against alpha-granule membrane protein(GMP) 140 on activated human platelets, was attached to the oligonucleotide of the linker peptide (Gly4 Ser)3 by means of recombinant DNA technique. The phagemid construct pHEN1-51scFv was obtained and introduced into the non-suppressor E. coli strain HB2151 for expression.The expressed product could fold up into a soluble single-chain Fv fragment (scFv) and was released into the conditioned medium. The SZ-51scFv was proved to bind specifically to GMP140 by Western blot.
As a clinical diagnostic technique, fluorescence in situ hybridization (FISH) is simple, reliable, cost-effective and widely applicable. Due to technology advances, automation systems are adapted in FISH in different ways, involving all and/or some of the following procedural steps: sample processing, probe distribution, hybridization, post-wash, result analysis and/or final report preparation. To better understand the status and prospective of FISH automation, a survey has been recently performed among Cytogenetic Laboratory Directors and/or their designated Laboratory Managers, Supervisors or certified Cytogenetic Technologists. We present here the preliminary analysis of this survey, to advocate more discussion about standardization of the FISH automation as well as implementation of FISH automation as part of educational programs for Cytogenetic Technologists.
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