Molecular Pathology Economics 101: An Overview of Molecular Diagnostics Coding, Coverage, and Reimbursement: A Report of the Association for Molecular Pathology.

Widespread indications for use of molecular diagnostics in various aspects of clinical medicine have driven proliferation of testing. The rapid adoption and continuous technological evolution of molecular diagnostics have often strained the development and maintenance of a functional underlying framework of coding, coverage, and reimbursement policies, thereby presenting challenges to various stakeholders, including molecular professionals, payers, and patients. A multidisciplinary working group convened by the Association for Molecular Pathology Economic Affairs Committee was tasked to describe the complex landscape of molecular pathology economics and highlight opportunities for member engagement.

The business of genomic testing: a survey of early adopters.

Purpose: The practice of "genomic" (or "personalized") medicine requires the availability of appropriate diagnostic testing. Our study objective was to identify the reasons for health systems to bring next-generation sequencing into their clinical laboratories and to understand the process by which such decisions were made. Such information may be of value to other health systems seeking to provide next-generation sequencing testing to their patient populations.

Detection of high-risk HPV in head and neck squamous cell carcinomas: comparison of chromogenic in situ hybridization and a reverse line blot method.

Human papillomaviruses (HPVs) have been etiologically linked to a subset of head and neck squamous cell carcinomas (HNSCCs), generally arising in young patients without a history of tobacco smoking or alcohol use. These tumors typically lack mutations in TP53 and may show enhanced sensitivity to chemoradiation therapy with a correspondingly better overall prognosis. The determination of the HPV status in HNSCC therefore has therapeutic implications.

Comparison of 2 line blot assays for defining HPV genotypes in oral and oropharyngeal squamous cell carcinomas.

Patients with invasive oral and oropharyngeal squamous cell carcinomas infected with human papillomaviruses (HPV) demonstrate improved survival. HPV detection in tumors may assist in risk stratification of patients and in guiding optimum treatment. Two reverse line blot assays [Linear Array (LA) and INNO-LiPA (LiPA)] were evaluated for detection of HPV genotypes in paraffin-embedded biopsies.

HPV genotype distribution in oral and oropharyngeal squamous cell carcinoma using seven in vitro amplification assays.

Background: Molecular and epidemiologic evidence indicates that human papillomavirus (HPV) is involved in the etiology of oral and oropharyngeal squamous cell carcinomas (SCCs). HPV(+) tumors appear to be clinically distinct from HPV(-) tumors, conferring improved survival outcomes for patients. Determination of the HPV status of tumors may assist in patient risk-stratification and ultimately guide optimum treatment.

Comparison of molecular methods for detection of HPV in oral and oropharyngeal squamous cell carcinoma.

Substantial molecular evidence exists to implicate human papillomavirus (HPV) in the pathogenesis of a subset of oral and oropharyngeal squamous cell carcinomas. Several studies have shown that HPV-associated oral/oropharyngeal tumors differ etiologically, biologically, and clinically from those that lack the virus. HPV infection confers a significant survival benefit; therefore, HPV detection in tumors could be used to risk-stratify patients and drive optimum treatment strategies.

Cutaneous myelofibrosis with JAK2 V617F mutation: metastasis, not merely extramedullary hematopoiesis!

Primary myelofibrosis (PMF) is a myeloproliferative neoplasm. There are 31 reported cases of cutaneous involvement by PMF, most of which have been described as "extramedullary hematopoiesis." We report a new case of cutaneous involvement by PMF and demonstrate mutation of the Janus kinase 2 gene in the cutaneous lesions.

Hamartomas, teratomas and teratocarcinosarcomas of the head and neck: Report of 3 new cases with clinico-pathologic correlation, cytogenetic analysis, and review of the literature.

Background: Germ-cell tumors (GCT) are a histologically and biologically diverse group of neoplasms which primarily occur in the gonads but also develop at different extragonadal sites in the midline of the body. The head and neck region including the upper respiratory tract is a very rare location for such tumors in both children and adults, which can cause diagnostic and therapeutic difficulties.

Methods: We describe here two new cases of multilineage tumors including sinonasal teratocarcinosarcoma [SNTCS], and congenital oronasopharyngeal teratoma (epignathus) and compare their features with those of a new case of a rare salivary gland anlage tumor [SGAT], an entity for which the pathogenesis is unclear (i.

Chronic idiopathic myelofibrosis (CIMF) resulting from a unique 3;9 translocation disrupting the janus kinase 2 (JAK2) gene.

We report a case of t(3;9)(q21;p24) in a patient with chronic idiopathic myelofibrosis (CIMF), a chronic myeloproliferative disorder (CMPD), initially detected by G-banding and fluorescent in situ hybridization (FISH) in an unstimulated culture of peripheral blood. Subsequent cytogenetic studies of bone marrow aspirates showed the presence and persistence of the same translocation. No additional cytogenetic abnormalities were found.

Monosomy 22 as a diagnostic aid in a case of late recurrence of adult granulosa cell tumor of the ovary.

Cytogenetic analysis of a case of metastatic granulosa cell tumor recurring 21 years after oophorectomy revealed monosomy 22. This anomaly, typical of granulosa cell tumor, coupled with the pathologic and immunophenotypic findings assisted in establishing the proper diagnosis of this lesion in the absence of the original histopathologic slides.