Molecular Pathology Informatics

Molecular informatics (MI) is an evolving discipline that will support the dynamic landscape of molecular pathology and personalized medicine. MI provides a fertile ground for development of clinical solutions to bridge the gap between clinical informatics and bioinformatics. Rapid adoption of next generation sequencing (NGS) in the clinical arena has triggered major endeavors in MI that are expected to bring a paradigm shift in the practice of pathology. This brief review presents a broad overview of various aspects of MI, particularly in the context of NGS based testing.     

Role of Informatics in Patient Safety and Quality Assurance

Quality assurance encompasses monitoring daily processes for accurate, timely, and complete reports in surgical pathology. Quality assurance also includes implementation of policies and procedures that prevent or detect errors in a timely manner. This article presents uses of informatics in quality assurance. Three main foci are critical to the general improvement of diagnostic surgical pathology. First is the application of informatics to specimen identification with lean methods for real-time statistical control of specimen receipt and processing. Second is the development of case reviews before sign-out. Third is the development of information technology in communication of results to assure treatment in a timely manner.     

Informatics and Autopsy Pathology

Many health care providers believe that the autopsy is no longer relevant in high-technology medicine era. This has fueled a decline in the hospital autopsy rate. Although it seems that advanced diagnostic tests answer all clinical questions, studies repeatedly demonstrate that an autopsy uncovers as many undiagnosed conditions today as in the past. The forensic autopsy rate has also declined, although not as precipitously. Pathologists are still performing a nineteenth century autopsy procedure that remains essentially unchanged. Informatics offers several potential answers that will evolve the low-tech autopsy into the high-tech autopsy.     

Importance of Informatics and Database Management in Transplant Coordination

Lack of personnel in the operating rooms is not a future problem, it is today’s reality in many hospitals throughout the OECD countries. As studies anticipate that this situation will not change overnight (1), the issue of the quality of surgery within this new environment needs to be addressed on short notice. The problem is even more critical for laparoscopic surgeons, who have enjoyed proportionally more assistance since the emergence of minimally invasive surgery.

After analyzing the tasks performed by OR assistants and nurses, we have looked at available techniques and tools (2) that could help laparoscopic surgeons, using the following criteria to assess their benefits: capability to address the shortage of assistance, impact on quality of surgery, economic affordability within the existing Belgian healthcare system.     

Usefulness of functional outcome questionnaires in primary screening of spinal disease

Back pain screening clinics are established to clinically screen patients with back pain for organic lumbar pathology. The aim of this study is to assess the relationship between clinical signs of organic pathology and the level of disability as measured by functional outcome scores. Sixty-nine patients who were found to have clinical signs of organic pathology and 69 age- and sex-matched patients from 512 patients who were found to have no signs of organic pathology in the same time period in the back pain screening clinic were selected. The Oswestry Disability, Short Form-36, and visual analogue (pain) scores between the two groups were statistically analyzed. We found a significant increase in the level of disability in the group with organic pathology; however, the variation in the scores makes them unspecific for use in screening of acute spinal pathology. We also found a strong relationship between psychologic disability and length of symptoms.     

Improving outcomes in adult spinal deformity surgery

Proximal junctional kyphosis and failure are important complications in reconstructive spine surgery. The impact of proximal junctional pathology on health status is variable, and junctional failure may involve compromise of neural and physical function, and may require revision surgery. The risk factors for proximal junctional kyphosis include multilevel fusion to the sacrum, malalignment of the spine, choice of upper instrumented vertebra, magnitude of realignment, bone and muscle quality, tension band integrity and characteristics of the unfused spine. The pathophysiology of proximal junctional pathology involve fracture and bony failure, ligamentous and soft tissue failure, and combined bone and soft tissue failure. Prevention of proximal junctional pathology is an important goal, and has a significant impact on improving the outcomes and durability of spinal reconstructive surgery. Prevention strategies are derived from an understanding of the underlying causes of junctional pathology. Preoperative planning to determine optimal post-operative alignment, and intraoperative strategies to achieve that alignment are important for prevention of junctional pathology. Preoperative preparation of the patient with optimization of bone quality, extensor muscle strength and body mass index may prevent junctional complications. Surgical strategies including anterior column load sharing and posterior augmentation of fixation are useful for prevention of junctional pathology. Cement augmentation at the upper instrumented vertebra, with possible inclusion of the next cephalad vertebra may be protective of bone failure. Ligamentoplasty and preservation of the tension band may be protective of soft tissue failure. Proximal junctional pathology remains an important complication in spinal reconstructive surgery. Understanding the factors associated with proximal junctional pathology including the mechanisms underlying junctional kyphosis, and awareness of the strategies for avoidance of junctional pathology will empower the surgeon to reduce the risk of post-operative junctional kyphosis and lead to improved outcomes in adult spinal deformity surgery.     

Review of the current state of digital image analysis in breast pathology

Advances in digital image analysis have the potential to transform the practice of breast pathology. In the near future, a move to a digital workflow offers improvements in efficiency. Coupled with artificial intelligence (AI), digital pathology can assist pathologist interpretation, automate time‐consuming tasks, and discover novel morphologic patterns. Opportunities for digital enhancements abound in breast pathology, from increasing reproducibility in grading and biomarker interpretation, to discovering features that correlate with patient outcome and treatment. Our objective is to review the most recent developments in digital pathology with clear impact to breast pathology practice. Although breast pathologists currently undertake limited adoption of digital methods, the field is rapidly evolving. Care is needed to validate emerging technologies for effective patient care.     

Breast cancer in thyroid diseases

The authors have analyzed 48 cases of breast cancer detected among more than 16,000 patients with thyroid pathology including thyroid carcinoma. It was established that breast cancer associated with thyroid pathology (thyroid cancer included) had specific features of the clinical course. Relative risk of breast carcinoma in thyroid cancer patients was not higher than the incidence in female population. Possible etiologic and pathogenic factors of the relationship between thyroid pathology and breast tumors are discussed. It is supposed that hypersecretion of prolactin and gonadotropins might play some role in such association. Radiotherapy and chemotherapy for breast carcinoma also can be predisposing factors to the development of subsequent thyroid pathology.     

Guidelines for synoptic reporting of surgery and pathology in Hirschsprung disease

Background/PurposeSynoptic, or standardized, reporting of surgery and pathology reports has been widely adopted in surgical oncology. Patients with Hirschsprung disease may experience morbidity related to surgical factors or underlying pathology and often undergo multiple operations. Our aim is to improve the postoperative outcome and care of patients with Hirschsprung disease by proposing a standardized set of data that should be included in every surgery and pathology report.MethodsMembers of the American Pediatric Surgical Association Hirschsprung Disease Interest Group and experts in pediatric pathology of Hirschsprung disease participated in group discussions, performed literature review and arrived at expert consensus guidelines for surgery and pathology reporting.ResultsThe importance of accurate operative and pathologic reports and the implications of inadequate documentation in patients with Hirschsprung disease are discussed and guidelines for standardizing these reports are provided.ConclusionsAdherence to the principles of reporting for operations and surgical pathology may improve outcomes for Hirschsprung disease patients and will facilitate identification of correlations among morphology, function, genetics and outcomes, which are required to improve the overall management of these patients.Level of EvidenceV.     

Image Analysis in Surgical Pathology

Digitization of glass slides of surgical pathology samples facilitates a number of value-added capabilities beyond what a pathologist could previously do with a microscope. Image analysis is one of the most fundamental opportunities to leverage the advantages that digital pathology provides. The ability to quantify aspects of a digital image is an extraordinary opportunity to collect data with exquisite accuracy and reliability. In this review, we describe the history of image analysis in pathology and the present state of technology processes as well as examples of research and clinical use.     

Translational Bioinformatics and Clinical Research (Biomedical) Informatics

Translational bioinformatics and clinical research (biomedical) informatics are the primary domains related to informatics activities that support translational research. Translational bioinformatics focuses on computational techniques in genetics, molecular biology, and systems biology. Clinical research (biomedical) informatics involves the use of informatics in discovery and management of new knowledge relating to health and disease. This article details 3 projects that are hybrid applications of translational bioinformatics and clinical research (biomedical) informatics: The Cancer Genome Atlas, the cBioPortal for Cancer Genomics, and the Memorial Sloan Kettering Cancer Center clinical variants and results database, all designed to facilitate insights into cancer biology and clinical/therapeutic correlations.     

Reoperations in thyroid surgery

The Authors examine etiology, incidence and hazards related to reoperation in thyroid surgery either for benign either for malignant pathology. The Authors present, then, 26 secondary operations performed in the Unit of Surgical Pathology of the Department of Surgical Sciences Chieti University: 15 for benign, 11 for malignant pathology. In the cases of thyroid malignant pathology, in 2 patients (operated in different hospitals) there was a parenchimatous recurrence, in 2 patients a lymphnodal recurrence. In all the patients a total thyroidectomy was performed, in one patient associated with lymphadenectomy. In the patients with lymphadenomatous recurrence a functional laterocervical lymphadenectomy was performed.     

Esophageal Tuberculosis in a Patient on Maintenance Dialysis: Advantages of Interferon-Gamma Release Assay

Patients with chronic renal failure have a higher risk of developing tuberculosis compared to the general population, and especially extra-pulmonary tuberculosis. This pathology is often difficult to diagnose and requires a combination of multidisciplinary examinations. The confirmation of the diagnosis is important in order to quickly match the treatment with the pathology. We report a patient with primary esophageal tuberculosis for whom the interferon gamma release assay facilitated a timely diagnosis.     

Open adrenalectomy surgery: an obsolete technique? About a case of Conn's syndrome

The authors report a case of an adenoma of Conn brought to their attention and treated by them in open surgery. The forms of primary hyperaldosteronism are essentially referable: 1) to the adenoma producing aldosterone, responsive to the ACTH, which represents the most common form (60-70%), responsive to surgery and with full recovery (70%) of cases. 2) to the bilateral hyperplasia, responsive to the angiotensine II, 25-30% of the cases, susceptible to medical therapy with receptorial antagonists of aldosterone. The diagnosis, based on the suspected clinical symptomatology, is determined by laboratory and imaging studies. Laparoscopic surgery is the orientation for this pathology. Comparative studies have shown that laparoscopic surgery adopted by experienced surgeons can treat the adrenal pathology in a mininvasive way, with good results for effectiveness and safety, and for these reasons the laparoscopic treatment is considered the gold standard for this pathology. But adrenal pathology is rare, 4% in people suffering hypertension, and from 0.35 to 4.4% in tumours. There are, however, only a few medical centres which have the possibility of observing a high number of such a pathology with a consequent accepted learning curve for laparoscopic treatment. For this reason the authors believe that "open" surgery in adrenal pathology is not obsolete and that surgical teams which have experience in retroperitoneal pathology must intervene adopting a laparotomic approach, with the aim to operate the sick person, who totally confides himself to the surgeon, in an appropriate way.     

Artificial intelligence in digital breast pathology: Techniques and applications

Breast cancer is the most common cancer and second leading cause of cancer-related death worldwide. The mainstay of breast cancer workup is histopathological diagnosis - which guides therapy and prognosis. However, emerging knowledge about the complex nature of cancer and the availability of tailored therapies have exposed opportunities for improvements in diagnostic precision. In parallel, advances in artificial intelligence (AI) along with the growing digitization of pathology slides for the primary diagnosis are a promising approach to meet the demand for more accurate detection, classification and prediction of behaviour of breast tumours. In this article, we cover the current and prospective uses of AI in digital pathology for breast cancer, review the basics of digital pathology and AI, and outline outstanding challenges in the field.     

Editorial Commentary: Endoscopic Proximal Hamstring Repair Is Safe and Effective for Refractory Tendinosis and Partial Tears: “Pain in the Butt” Has an Endoscopic Solution!

While surgical treatment of acute proximal hamstring ruptures is well understood to be the best treatment option for many patients, treatment of chronic proximal hamstring pathology has lagged, with most management consisting of conservative options: rest, ice, physical therapy, nonsteroidal anti-inflammatory drugs, shock-wave therapy, and injections such as corticosteroids and platelet-rich plasma. However, recent research shows that endoscopic repair of chronic proximal hamstring pathology is safe and effective for treating this pathology at short-term follow-up, with high rates of return to activity and patient satisfaction. This presents an appealing treatment option for patients with refractory proximal hamstring pathology, as well as a technique for repairing acute, full-thickness tears. With attention to detail, complication rates are low for endoscopic treatment of both acute and chronic proximal hamstring pathology.     

The untapped potential of digital pathology in prostate cancer diagnosis and medical education in sub-Saharan Africa

Introduction

Prostate cancer exerts a significant burden of disease in sub-Saharan Africa. Late clinical presentation with metastatic disease at diagnosis and the lack of structured national screening programs are unsolved issues. The delay in prostate cancer diagnosis is in part due to the severe shortage of African pathologists with inadequate or inaccessible diagnostic infrastructure playing a contributory role to this problem.

The surgical management of complicated spinal stenosis: spondylolisthesis

The principles of surgery in spinal stenosis follow a clear understanding of the pathology in the various types ofstenosis. This article describes how the basic technique of one-level decompression in spinal stenosis is modified to deal with the pathology in degenerative spondylolisthesis. We have provided an explanation of the pathology in spinal stenosis with degenerative spondylolisthesis, and how modifications of the basic decompressive technique are necessary to deal with these variations in pathology. The indications and technique for a concomitant lateral spinal fusion are described. Techniques of instrumentation are not covered in this article.     

Horner's syndrome in association with thyroid and parathyroid disease

BACKGROUND: Injury to the cervical sympathetic chain and its consequence, Horner's syndrome, as a result of thyroid pathology or surgical intervention is an uncommon complication. The purpose of the present study was to examine the experience of one endocrine surgical unit with pre and postoperative Horner's syndrome. METHODS: This is a retrospective case series. The study group comprised all patients undergoing thyroid and parathyroid surgery at Royal North Shore Hospital from January 2000 to October 2003 who were identified as having either pre or postoperative Horner's syndrome. Patient demographics, operation performed, underlying pathology and outcomes were evaluated. RESULTS: There were nine cases of Horner's syndrome recorded from a total of 2208 thyroid and parathyroid operations undertaken: three with preoperative Horner's, an incidence of 0.14%, six with postoperative Horner's, an incidence of 0.27%. Patients ranged in age from 22 to 87 years. Two of the three preoperative cases were related to benign pathology, the remaining case having anaplastic carcinoma. Five of the six postoperative cases were related to thyroid malignancy with lymph node dissection; one case was associated with benign parathyroid pathology. CONCLUSIONS: Cervical sympathetic chain injury is a rare complication of surgery for thyroid and parathyroid conditions. The presence of preoperative Horner's does not necessarily indicate an underlying malignancy.     

Preoperative Assessment of the Peroneal Tendons in Lateral Ankle Instability: Examining Clinical Factors,Magnetic Resonance Imaging Sensitivity,and Their Relationship

The purpose of our study was to examine the preoperative clinical factors and magnetic resonance imaging (MRI) findings associated with peroneal pathology in chronic lateral ankle instability patients, as well as the clinical factors associated with peroneal lesions being detected on MRI. Peroneal pathology was determined from intraoperative findings. Patients with/without peroneal pathology were compared regarding their preoperative clinical findings. MRI reports were examined to determine the sensitivity of detecting peroneal pathologies. Clinical factors were compared between patients (N = 238) with undetected and detected peroneal lesions on MRI. Conservative treatment, preoperative physical therapy, and lack of a traumatic inciting event were associated with peroneal pathology. MRI had a sensitivity of 61.11% for detecting peroneal pathology. No clinical factors were significantly different between “detected” and “undetected” cases. Certain historical factors were associated with peroneal pathology in patients with chronic lateral ankle instability, and MRI had a high false-negative rate. Surgeons should exercise caution when ruling out peroneal pathology based on preoperative physical examination or MRI.