A female patient aged 3 years and 1 month developed poikilodermatous patches on the right forearm at the age of 6 months, which spread to bilateral cheeks, buttocks and limbs at the age of 1 year and 4 months. Skin examination showed multiple brown and off-white poikilodermatous patches on the bilateral cheeks, buttocks and limbs, which were intermingled with normal skin and did not merge with each other. The trunk and oral mucosa were not involved. The fifth toenail of the right foot was thickened. Blood routine examination showed that the neutrophil count fluctuated between 1.70 × 10 9/L and 9.32 × 10 9/L. Histopathological examination of the brown patches on the left upper limb showed hyperpigmentation in the basal layer of the epidermis, and a few melanophages around the dermal vessels. Next-generation sequencing of peripheral blood genomic DNA revealed two compound heterozygous mutations c.798A>G in exon 7 and c.479delT in exon 3 of the USB1 gene in the child, which were inherited from her father and mother respectively. Neither of the two mutations was identified in 100 unrelated healthy controls. The patient was diagnosed with poikiloderma with neutropenia.

Primary plasma cell leukemia (pPCL) is a rare and aggressive plasma cell disorder with distinct clinical and biological features.Thanks to the application of novel agents such as proteasome inhibitors (e.g.bortezomib) and immunomodulatory drugs (e.g.thalidomide and lenalidomide),along with stem cell transplantation,the outcome of pPCL has been improved a lot.Despite therapeutic advances,the current understanding of pPCL biology is still limited due to the lack of availability of clinical samples.This review provides the recent progress of the diagnostic and therapeutic options in pPCL.

Objective To investigate the clinical characteristics of plasma cell malignancies with t(11;14) and the effect of t(11;14) on prognosis. Methods A cohort of 380 newly diagnosed patients with plasma cell malignancies were analyzed,including 146 females and 234 males.There were 370 cases of newly diagnosed multiple myeloma (NDMM), as well as 10 cases of primary plasma cell leukemia (PCL). The relationship between the categorical variables was evaluated by using the bilateral Fisher exact probability test, with 95 % confidence interval. Results Of 370 NDMM cases, t(11;14) was detected in 101 cases (27.3 %). Of 10 PCL cases, 8 cases displayed t(11;14). The detection rate of t(11;14) was significantly higher in IgD, IgM and non-secreting MM [50.9 % (27/53)] than that in IgA MM [21.6 % (16/78)] and IgG [28.4 % (52/183)] (both P= 0.002). The rate of CD56+in t(11;14) positive group was lower than that in t(11;14) negative group [51.6 % (48/93) vs. 72.0 % (167/232), P= 0.001], and the rate of CD117+was also significantly decreased [23.7 % (22/93) vs. 37.7 % (87/231), P= 0.019]. There were 86 cases of non-t(11;14) IgH rearrangement in 269 cases of NDMM without t(11;14), which mainly were t(4;14) or t(14;16). The detection rate of high risk MM was only 11.9 %(12/101)in t(11;14)positive group,while that rate was 27.5 % (74/269) in t(11;14) negative group, the difference was statistically significant (P = 0.001). Conclusion MM with t(11;14)displays distinct biological,clinical and laboratory features,it is a heterogeneous disease.

Immune Checkpoint Inhibitors ; Transcriptome ; Immunotherapy ; Biomarkers, Tumor