Concordance of Peripheral Blood and Bone Marrow Next-Generation Sequencing in Hematologic Neoplasms.

Objective: Mutational analysis by next-generation sequencing (NGS) obtained by peripheral blood NGS has been of clinical interest to use as a minimally invasive screening tool. Our study evaluates the correlation between NGS results on peripheral blood and bone marrow in hematolymphoid disease. Method: We evaluated patients who had NGS for presumed hematologic malignancy performed on peripheral blood and bone marrow within a 1-year interval of each other. We excluded cases in which chemotherapy or bone marrow transplant occurred in the interval between the two tests. The concordance across peripheral blood and bone marrow NGS results was assessed by kappa coefficient analysis. Results: A total of 163 patients were studied. Concordance of peripheral blood and bone marrow NGS found in 150 patients (92.0%) with a kappa coefficient of 0.794 (kappa standard error 0.054) and P value for testing kappa <0.0001. Myeloid neoplasms showed concordant results in 77/78 cases (98.7%) with a kappa coefficient of 0.916. Lymphoid neoplasms showed concordant results in 26/31 cases (83.9%) with a kappa coefficient of 0.599. Nonneoplastic cases showed concordant results in 47/54 cases (87.0%) with a kappa coefficient of 0.743. Conclusion: Peripheral blood NGS is a reliable tool for mutational analysis and provides a less invasive method for screening and monitoring of the molecular profile.

Deep learning-based transformation of H&E stained tissues into special stains.

Pathology is practiced by visual inspection of histochemically stained tissue slides. While the hematoxylin and eosin (H&E) stain is most commonly used, special stains can provide additional contrast to different tissue components. Here, we demonstrate the utility of supervised learning-based computational stain transformation from H&E to special stains (Masson's Trichrome, periodic acid-Schiff and Jones silver stain) using kidney needle core biopsy tissue sections. Based on the evaluation by three renal pathologists, followed by adjudication by a fourth pathologist, we show that the generation of virtual special stains from existing H&E images improves the diagnosis of several non-neoplastic kidney diseases, sampled from 58 unique subjects (P = 0.0095). A second study found that the quality of the computationally generated special stains was statistically equivalent to those which were histochemically stained. This stain-to-stain transformation framework can improve preliminary diagnoses when additional special stains are needed, also providing significant savings in time and cost.

Primary Renal Ewing Sarcoma in Children and Young Adults.

The Ewing sarcoma family of tumors (ESFT) are high-grade small round blue cell malignancies traditionally presenting in children and adolescents. The most common site of primary disease is bone, though extraskeletal primary sites are well-recognized. We present 6 cases of primary ESFT of the kidney and 1 case of the adrenal gland. Patients were 11 to 18 years of age at diagnosis. Metastases at diagnosis were present in most cases (n=6). All patients underwent surgery, and most received radiation (n=5). Five patients relapsed after initial remission. Comprehensive review of the primary renal ESFT literature was used to analyze various factors, including age, sex, disease metrics, metastases at diagnoses, and overall survival in a total of 362 cases. Notably, while the general ESFT population has reported rates of metastasis at diagnosis of 20% to 25%, this rate in the renal ESFT population was 53% with a rate of 59% in adolescent and young-adult patients (11 to 24 y). Nodal disease at diagnosis was present in 24% of renal ESFT cases compared with 3.2% in patients with primary skeletal ESFT. While this malignant process may share histologic and molecular features with its bone and soft tissue counterparts, primary renal ESFT presentations seem to be more aggressive and have worse outcomes.

Cutaneous Metastasis of Internal Tumors.

Cutaneous metastasis portends a poor prognosis. Therefore, a high clinical index of suspicion is necessary so that a clinician knows how to recognize the presentation of a cutaneous metastasis, while the pathologist must know the appropriate stains to order. In this review, the authors summarize the common and uncommon ways that these tumors will present. Frequently a metastatic cancer will present as a firm red nodule or as a plaque, ulcer, or papule. Less commonly they will present with a clinical clue that can alert a clinician to a likely diagnosis; these manifestations include alopecic, vesicular, blue color, sclerodermoid, acrochordon-, or pellagra-like.

Orbital Expansion in Cranial Vault After Minimally Invasive Extradural Transorbital Decompression for Thyroid Orbitopathy.

PURPOSE: To test the hypothesis that the orbit expands in the cranial vault after wide dural exposure after minimally invasive extradural transorbital decompression for thyroid eye disease. METHODS: A cross-sectional cohort study of 36 patients (60 orbits). Preoperative and postoperative (6 months) orbital CT following extradural transorbital decompression was analyzed. Primary outcome measure was the percentage area of the cranial vault occupied by orbital and brain tissue in a predefined window before and after surgery. Secondary outcome measures were displacement of the anteriormost aspect of the temporal lobe, reduction in clinical proptosis, change in clinical activity score, and change in diplopia. RESULTS: The mean percentage of the selected area of the cranial vault preoperatively was 0% orbital and 44% ± 15% brain tissue, compared with 70% ± 16% orbital and 28% ± 14% brain tissue postoperatively (p < 0.001). Posterior movement of the brain was demonstrated in 59 of 60 orbits, with a mean displacement of 2.0 mm ± 1.3 mm (p < 0.001). Mean proptosis reduction was 11.2 mm ± 3.6 mm (p < 0.001). The proportion of patients with clinical activity score <3 compared with clinical activity score ≥3 was not significantly different after surgery (p = 0.163). Improved diplopia was noted in 5 patients (14%), and worsening diplopia was noted in 3 patients (8%), although these changes were not significant (p = 0.772). Intraoperative dural tear with cerebrospinal fluid leak was reported in 2 orbits (3%), which was successfully managed with fibrin glue, with no sequelae. No other complications were noted, including infection, spontaneous orbital pulsations, postoperative hemorrhage (intracranial or intraorbital), or reactivation of disease. CONCLUSION: With wide exposure of the middle cranial fossa dura following extradural transorbital decompression, orbital tissue typically expands in the cranial vault.