Autosomal recessive disorders of B cell development are rare and heterogeneous. To determine the proportion of affected patients who have defects in the micro heavy chain (IGHM) gene, we used single-stranded conformational polymorphism analysis to screen genomic DNA from 40 unrelated patients with early onset infections, profound hypogammaglobulinemia, and absent B cells. All of the patients were genotypically normal in BTK, the gene that underlies X-linked agammaglobulinemia. Eight different mutations in the micro heavy chain were identified in 19 members of 12 unrelated families. Four of the mutations were large deletions that removed more than 40 kb of DNA in the IGHM locus. In six of the 12 families, the affected patients had an identical single base pair substitution, a G-->A, at the -1 position of the alternative splice site. Immunoglobulin haplotype analysis showed that this mutation occurred on at least three different haplotypes, indicating that this is a hot spot for mutations. Compared with patients with mutations in Btk, patients with defects in the micro heavy chain had an earlier onset of disease and more complications. Our study indicates that at least 20-30% of patients with autosomal recessive defects in B cell development have mutations in the micro heavy chain.

Retroperitoneal sarcomas are rare tumors, representing only 15% of all sarcomas. The mainstay of therapy is surgical resection with negative margins. However, this is challenging because of the late presentation of many of these tumors and involvement with adjacent structures. Decisions on radiation therapy and chemotherapy should be made in a multidisciplinary setting at a tertiary referral center.

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Purpose Breast cancer outcomes are impaired by both delays and disparities in treatment. This study was performed to assess their relationship and to provide a tool to predict patient socioeconomic factors associated with risk for delay. Methods The National Cancer Database was reviewed between 2004 and 2017 for patients with non-metastatic breast cancer managed with upfront surgery. Times to treatment were measured from the date of diagnosis. Patient, tumor, and treatment factors were assessed with attention paid to sociodemographic variables. Results 514,187 patients remained after exclusions, with 84.3% White, 10.8% Black, 3.7% Asian, and Hispanics comprising 5.6% of the cohort. Medicaid and uninsured patients had longer mean adjusted time to surgery (≥ 46 days) versus private (36.7 days), Medicare (35.9 days), or other governmental insurance (39.8 days). After adjustment, Black race and Hispanic ethnicity were most impactful, adding 6.0 and 6.4 preoperative days, 10.9 and 11.5 days to chemotherapy, 11.1 and 9.1 days to radiation, and 12.5 and 8.9 days to endocrine therapy, respectively. Income, education, and insurance, among other factors, also affected delay. A nomogram, including race and sociodemographic factors, was created to predict the risk of preoperative delay. Conclusion Significant disparities exist in timeliness of care for factors, including but not limited to, race and ethnicity. Although exact causes cannot be discerned, these data indicate population subsets whose intervals of care risk being longer than those specified by national quality standards. The nomogram created here may help direct resources to those at highest risk of incurring a treatment delay. Supplementary Information The online version contains supplementary material available at 10.1007/s10549-021-06460-9.