Clinicopathologic Characterization of Breast Carcinomas in Patients with Non-BRCA Germline Mutations: Results from a Single Institution ’s High Risk Population
As multigene panel testing for hereditary cancer syndromes becomes commonplace, germline mutations in genes other than BRCA1/2 are increasingly identified in breast cancer patients. While histopathologic features of BRCA-mutated breast cancers have been well-characterized, less is known about non-BRCA-related hereditary cancers. We herein investigate the clinicopathologic characteristics of breast cancers in women with non-BRCA germline mutations. Out of 612 women who underwent germline testing, 16 (2.6%) of women with 18 cancers had mutations in non-BRCA genes: ATM, CHEK2, PALB2, TP53, BMPR1A, BRIP1, MUTYH, and RAD50. (So...
Source: Human Pathology - June 26, 2018 Category: Pathology Authors: Alice E. Meiss, Martha Thomas, Susan C. Modesitt, Kari L. Ring, Kristen A. Atkins, Anne M. Mills Tags: Original Contributions Source Type: research
Corrigendum to “Pericytic mimicry in well-differentiated liposarcoma/atypical lipomatous tumor” (Hum Pathol 2016;54:92–99)
The authors regret that the RGS5 antibody source was published incorrectly. The antibody used for RGS5 detection was an anti-RGS5 antibody (rabbit anti-human, polyclonal, Sigma, HPA001821, Allentown, PA). (Source: Human Pathology)
Source: Human Pathology - June 26, 2018 Category: Pathology Authors: Jia Shen, Swati Shrestha, P. Nagesh Rao, Greg Asatrian, Michelle A. Scott, Vi Nguyen, Paulina Giacomelli, Chia Soo, Kang Ting, Fritz C. Eilber, Bruno Peault, Sarah M. Dry, Aaron W. James Tags: Corrigendum Source Type: research
Clinicopathological and prognostic significance of SHP2 and Hook1 expression in patients with thyroid carcinoma
Some thyroid carcinomas (TCs) have a violent biological behavior and poor prognosis, and lacking of effective molecular markers is still the main obstacle for clinical stratified diagnosis and treatment of TC. The aim of the study was to discover the clinicopathological and prognostic implications of Src homology region 2-containing protein tyrosine phosphatase 2 (SHP2) and Hook microtubule tethering protein 1(Hook1) expression in TC. The expression of SHP2 and Hook1was detected by immunohistochemistry on tissue microarrays from 313 primary TC who underwent surgery during January 2006 and January 2010 in Zhejiang Cancer Ho...
Source: Human Pathology - June 25, 2018 Category: Pathology Authors: Jun Cao, Yu-Qing Huang, Jiao-Sun, Xia-Bin Lan, Ming-Hua Ge Tags: Original Contributions Source Type: research
Temporal Small Arterial Inflammation is Common in Patients with Giant Cell Arteritis
Giant cell arteritis (GCA) primarily involves medium-to-large arteries. Small vessel inflammation is a recognized phenomenon occurring in association with GCA. However, its significance is poorly elucidated. Histologic sections and medical records of105 temporal artery specimens were retrospectively reviewed between 2008 and 2017 to examine associated clinical manifestations and laboratory data including ANA and p-ANCA titers. Immunohistochemical staining for CD4 and CD8 was performed in select cases to assess the nature of the inflammatory response. (Source: Human Pathology)
Source: Human Pathology - June 25, 2018 Category: Pathology Authors: Chaohui Lisa Zhao, Yiang Hui, Ali Amin Tags: Original Contributions Source Type: research
Co-expression of CDX2 and CK20 in hepatocellular carcinoma, an exceedingly rare coincidence with potential diagnostic pitfall
(See Fig. 1.) (Source: Human Pathology)
Source: Human Pathology - June 25, 2018 Category: Pathology Authors: Tony El Jabbour, Nicole Durie, Hwajeong Lee Tags: Correspondence Source Type: research
Fluorescence in situ hybridization for the diagnosis of NPHP1 deletion-related nephronophthisis on renal biopsy
Nephronophthisis is an autosomal recessive tubulointerstitial nephropathy that is a leading genetic etiology of end stage renal disease in children and young adults. Approximately 60% of patients with a known genetic etiology of nephronophthisis are due to homozygous deletion of the NPHP1 gene. We identified a total of 45 renal biopsies from young patients with chronic kidney disease of undetermined etiology and analyzed them for the possibility of nephronophthisis due to NPHP1 deletion using interphase fluorescence in situ hybridization and/or polymerase chain reaction. (Source: Human Pathology)
Source: Human Pathology - June 24, 2018 Category: Pathology Authors: Christopher P Larsen, Stephen M Bonsib, Marjorie L Beggs, Jon D Wilson Tags: Original Contributions Source Type: research
Mixed-phenotype large granular lymphocytic leukemia (LGLL): a rare subtype in the LGLL Spectrum
Large granular lymphocytic leukemia (LGLL) is a chronic proliferation of cytotoxic lymphocytes in which over 70% of patients develop cytopenia(s) requiring therapy. LGLL includes T-cell LGLL (T-LGLL) and chronic lymphoproliferative disorder of NK-cells (CLPD-NK). The neoplastic cells in LGLL usually exhibit a single immunophenotype in a patient, with CD8-positive/ αβ T-cell type being the most common, followed by NK-cell, γδ T-cell, and CD4-positive/αβ T-cell types. We investigated a total of 220 LGLL cases and identified 12 mixed-phenotype LGLLs (5%): 7 cases with coexistent αβ T-cell and NK-cell clones and 5 with...
Source: Human Pathology - June 24, 2018 Category: Pathology Authors: Jadee L. Neff, Aruna Rangan, Dragan Jevremovic, Phuong L. Nguyen, April Chiu, Ronald S. Go, Dong Chen, William G. Morice, Min Shi Tags: Original Contributions Source Type: research
Microglandular adenosis of the breast: a deceptive and still misterious benign lesion
Microglandular adenosis of the breast (MA), a benign glandular proliferation, was originally described about 35years ago. The lesion, is constituted by small glands all of the same size. Glands are lined by one layer of cuboidal epithelial cells encircled by basal lamina without any evidence of interposed myoepithelial elements. Cells are positive for low weight keratins and S-100 protein and negative for ER, PR and HER 2. Since then, in the years, several malignant lesions all showing microglandular architecture have been regarded either as a precursor or an equivalent manifestation of MA. (Source: Human Pathology)
Source: Human Pathology - June 24, 2018 Category: Pathology Authors: Maria P. Foschini, Vincenzo Eusebi Tags: Perspectives in pathology Source Type: research
Genomic structures of dysplastic nodule and concurrent hepatocellular carcinoma
The objective of this study was to identify genomic alterations of HGDN and its difference from HCC that may drive HGDN progression to HCC. We analyzed 16 regions of paired HGDN and HCC from 6 patients using whole-exome sequencing to find somatic mutation and copy number alteration (CNA) profiles of HGDN and HCC. (Source: Human Pathology)
Source: Human Pathology - June 24, 2018 Category: Pathology Authors: Minho Lee, Kyung Kim, Shinn Young Kim, Seung-Hyun Jung, Jonghwan Yoon, Min Sung Kim, Hyeon-Chun Park, Eun Sun Jung, Yeun-Jun Chung, Sug Hyung Lee Tags: Original Contributions Source Type: research
MED12 is frequently mutated in ovarian and other adnexal Leiomyomas
In the female genital tract, extra-uterine leiomyomas such as those that arise in the ovary and paraovarian/paratubal regions are rare. Currently, little is known about the background genetic changes in such adnexal leiomyomas. Recent studies have found that the MED12 mutation is common in uterine leiomyomas, which suggests that such mutations may play an oncogenic role in smooth muscle neoplasms in females. Herein, we examined a series of ovarian and other adnexal leiomyomas in terms of MED12 mutational status to investigate possible MED12 involvement in the pathogenesis of extra-uterine smooth muscle tumors. (Source: Human Pathology)
Source: Human Pathology - June 23, 2018 Category: Pathology Authors: Zhuo Li, Daichi Maeda, Yukitsugu Kudo-Asabe, Daisuke Tamura, Hiroshi Nanjo, Akimasa Hayashi, Masako Ikemura, Masashi Fukayama, Akiteru Goto Tags: Original Contributions Source Type: research
Overexpression of signal sequence receptor γ (SSR3) predicts poor survival in patients with hepatocellular carcinoma
In this study, we used data from public databases to analyze SSR3 expression in H CC. We subjected 20 pairs of fresh-frozen tissues to quantitative real-time polymerase chain reaction (qRT-PCR) to investigate SSR3 expression. We also subjected 95 formalin-fixed, paraffin-embedded HCC tissues to immunohistochemistry to detect SSR3 expression and determine the clinical significance of SSR3 expression in HCC. (Source: Human Pathology)
Source: Human Pathology - June 23, 2018 Category: Pathology Authors: Shanzhou Huang, Wenqiang Zhong, Zhi Shi, Kun Wang, Huilin Jin, Zijian Zhang, Huanyu Wange, Yongcheng Wei, Sixv Chen, Qi Zhou, Xiaoshun He Tags: Original contribution Source Type: research
Giant cell tumor of bone: updated molecular pathogenesis and tumor biology
GCTB-related clonal aberrations occur in a background of epigenetic histone modifications (especially, the G34 W mutation of H3F3A gene) that induce cytogenetic abnormalities. Clonal aberrations are closely linked to the aggressiveness of GCTB. The “neoplastic” mononuclear stromal cells in GCTB express fundamental RANKLs and various chemokines and cytokines associated with monocyte recruitment and “reactive” multinucleated giant cells (osteoclastogenesis). The reciprocal and orchestrated actions between mononuclear stromal cells and mu ltinucleated giant cells helps in the understanding of the molecular pathogenesi...
Source: Human Pathology - June 23, 2018 Category: Pathology Authors: Byeong-Joo Noh, Yong-Koo Park Tags: Progress in pathology Source Type: research
Ovarian carcinomas: at least five different diseases with distinct histological features and molecular genetics
Based on histopathology and molecular genetics, ovarian carcinomas are divided into five main types: high-grade serous (70%), endometrioid (10%), clear cell (10%), mucinous (3%), and low-grade serous ( (Source: Human Pathology)
Source: Human Pathology - June 23, 2018 Category: Pathology Authors: Jaime Prat, Emanuela D'Angelo, I ñigo Espinosa Tags: Perspectives in pathology Source Type: research
NF2 and ATRX gene copy number losses on a case of ovarian ependymoma
We describe a 27year old female who presented to the emergency room with a 3week history of cough and shortness of breath. Further workup disclosed a left pelvic mass and extensive intra-abdominal metastases. Pathology revealed sheets of monomorphic cells within a fibrillary stroma, papillary projections, true ependymal rosettes, and pseudorosettes consistent with an ependymoma of ovarian origin. (Source: Human Pathology)
Source: Human Pathology - June 23, 2018 Category: Pathology Authors: Liurka V. Lopez, Siddharth Bhattacharyya, Eric D. Carlsen, David Bartlett, Uma N.M. Rao Tags: Case Study Source Type: research
Inside front cover - Masthead
(Source: Human Pathology)
Source: Human Pathology - June 22, 2018 Category: Pathology Source Type: research
