A case of a patient with Turner syndrome (TS) with a karyotype of 45, X/46, XX/47, XXX who was admitted to the Department of Endocrinology at Peking Union Medical College Hospital in March 2025 were reported. The patient presented with primary amenorrhea and recurrent fractures. Dual-energy X-ray absorptiometry revealed osteoporosis, and spinal X-rays showed multiple vertebral wedge-shaped deformities. Screening for other secondary causes of osteoporosis revealed no significant abnormalities. Based on these results, together with the patient's sex hormone levels indicating hypergonadotropic hypogonadism and a peripheral blood karyotype of 45, X/46, XX/47, XXX, the patient was diagnosed with mosaic TS complicated by osteoporosis. The patient was treated with denosumab 60 mg subcutaneously once every 6 months, in combination with calcium carbonate/vitamin D3 600 mg orally once daily and vitamin D3 2 000 U orally once daily. No new fractures occurred through 9 months of follow-up. A literature review revealed that 26 cases of 45, X/46, XX/47, XXX mosaic TS with complete clinical data have been reported worldwide to date. The median age at diagnosis was 20.50 (range, 7.38-32.75) years. Patients diagnosed under 18 years of age predominantly presented with short stature; patients of reproductive age may present with infertility, with some achieved a successful pregnancy through assisted reproductive technology; and patients over 40 years of age often presented with other systemic diseases, such as hearing impairment, psychiatric disorders, epilepsy, ovarian stromal cell tumors, multiple myeloma, and sideroblastic anemia.

Objective: To evaluate the clinical characteristics and prognostic value of t(14;16) translocation in patients with newly diagnosed multiple myeloma (MM). Methods: Clinical data of MM patients newly diagnosed at Beijing Chaoyang Hospital, Capital Medical University from January 1, 2010 to May 1, 2022 were retrospectively analyzed. Clinical characteristics, cytogenetic abnormalities, and follow-up data were collected. The efficacy of induction therapy was evaluated. The primary endpoints were progression-free survival (PFS) and overall survival (OS). Based on cytogenetic data, patients were divided into those with and those without t(14;16). Propensity score matching based on age, International Staging System (ISS) stage, 1q21 gain/amplification, and del(17p13), with a caliper width of 0.2, was used to reduce bias. Cox proportional hazard regression was used to identify prognostic factors. The Kaplan-Meier method was used for survival analysis. Results: A total of 774 patients with newly diagnosed MM were included. The median age of the included patients was 61 (range 33-87) years, with a male-to-female ratio of 1.22∶1. Among the included patients, translocation t(14;16) was observed in 35 (4.5%, 35/774). Twenty-six (74.3%, 26/35) patients with t(14;16) had concomitant 1q21 gain/amplification [six of them also had del (17p)], while only eight patients (22.9%, 8/35) had isolated t(14;16). Multivariable Cox proportional hazards regression analysis showed that t(14;16) was a poor prognostic factor for OS (HR=1.988, 95%CI 1.288-3.068, P=0.002) and PFS (HR=1.622, 95%CI 1.090-2.413, P=0.017) of patients with newly diagnosed MM. After propensity score matching, the overall response rates after treatment in the t(14;16) and non-t(14;16) groups were 90.9% (30/33) and 84.8% (28/33), respectively; there was no statistically significant difference in efficacy between the two groups (P=0.454). Among the matched patients, the median OS and PFS of patients with t(14;16) were 35.1 (95%CI 26.5-43.6) and 21.2 (95%CI 13.1-29.2) months, respectively, and those of patients without t(14;16) were 64.8 (95%CI 42.1-87.4) and 35.4 (95%CI 23.1-47.6) months, respectively; the difference in OS was not statistically significant (P=0.053), whereas the difference in PFS was statistically significant (P=0.038). Conclusion: t(14;16) translocation is frequently accompanied by 1q21 gain/amplification and is a poor prognostic factor for OS and PFS in patients with newly diagnosed MM.

Multiple myeloma (MM), an incurable malignancy characterized by the clonal proliferation of plasma cells, predominantly affects older adults and is the third most common hematologic malignancy in China. With the continuous emergence of novel therapeutic agents and advances in diagnostic technologies, the diagnosis and treatment of MM have progressively evolved. In this revision of the guidelines, the recommended examinations listed in the diagnostic section have been updated. In the risk-stratification section, the Chinese comprehensive risk-stratification system has been retained, and the Consensus Genomic Staging system has been added. For patients with newly diagnosed MM, quadruplet regimens containing an anti-CD38 monoclonal antibody are preferentially recommended. Nevertheless, in the era of quadruplet induction therapy, early autologous stem cell transplantation remains recommended for all transplant-eligible patients. Chimeric antigen receptor T-cell therapy and bispecific antibodies may be used in patients at first relapse, and belantamab mafodotin-based combinations have also been added to the recommendations for this population. Treatment options are assigned different levels of recommendation based on the best available evidence.

The choice of first-line therapy is exceptionally challenging when multiple myeloma is associated with advanced renal failure. In this issue of Med, Xiao and colleagues report on results from a randomized phase 2 study1 indicating that the pomalidomide, bortezomib, and dexamethasone triplet leads to better myeloma disease control, thereby increasing renal function after four cycles.

The prospective, multicenter, non-interventional study CARO (NCT02970747) investigated adherence, effectiveness, quality of life and safety of carfilzomib in patients with relapsed/refractory multiple myeloma (RRMM) in German routine clinical practice. CARO included 359 patients at 69 sites and evaluated three carfilzomib-based treatment regimens: Carfilzomib with lenalidomide and dexamethasone (KRd), with dexamethasone only (Kd) or with daratumumab and dexamethasone (KdD). Across cohorts, patients' adherence to carfilzomib was > 90%, while effectiveness was in line with previous data from both randomized clinical trials and real-world studies. Median PFS (95% CI) was 17.5 months (14.5, 24.7 [KRd]), 13.4 months (7.3, 18.1 [Kd]) and 20.1 months (10.9, 26.6 [KdD]), respectively. Median OS was 38.9 months (31.5, 51.4 [KRd]), 24.6 months (17.8, 36.8 [Kd]) and not reached (21.9, NA [KdD]). Patients' quality of life remained stable during treatment, while pain parameters improved after 6 months of treatment. CARO provides real-world evidence that KRd, Kd, and KdD combinations achieve clinically meaningful outcomes in everyday practice and demonstrates patients' excellent treatment adherence.ClinicalTrials.gov identifier: NCT02970747.

Myeloid-derived suppressor cells are a pivotal component of the immunosuppressive tumor microenvironment in hematologic malignancies. Through diverse mechanisms, they promote disease progression, therapeutic resistance, and immune evasion. This comprehensive review synthesizes current evidence on the roles of myeloid-derived suppressor cells across major hematologic cancers and evaluates their prognostic significance, highlighting implications for patient stratification and potential therapeutic targeting.