Journal of Pathology and Translational Medicine

Volume 56(3); May 2022

Review

Neuropathologic features of central nervous system hemangioblastoma: Rebecca A. Yoda, Patrick J. Cimino; J Pathol Transl Med. 2022;56(3):115-125. Published online May 3, 2022; DOI: https://doi.org/10.4132/jptm.2022.04.13

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Abstract PDF: Hemangioblastoma is a benign, highly vascularized neoplasm of the central nervous system (CNS). This tumor is associated with loss of function of the VHL gene and demonstrates frequent occurrence in von Hippel-Lindau (VHL) disease. While this entity is designated CNS World Health Organization grade 1, due to its predilection for the cerebellum, brainstem, and spinal cord, it is still an important cause of morbidity and mortality in affected patients. Recognition and accurate diagnosis of hemangioblastoma is essential for the practice of surgical neuropathology. Other CNS neoplasms, including several tumors associated with VHL disease, may present as histologic mimics, making diagnosis challenging. We outline key clinical and radiologic features, pathophysiology, treatment modalities, and prognostic information for hemangioblastoma, and provide a thorough review of the gross, microscopic, immunophenotypic, and molecular features used to guide diagnosis.

Original Articles

Frequency of PIK3CA mutations in different subsites of head and neck squamous cell carcinoma in southern Thailand: Arunee Dechaphunkul, Phatcharaporn Thongwatchara, Paramee Thongsuksai, Tanadech Dechaphunkul, Sarayut Lucien Geater; J Pathol Transl Med. 2022;56(3):126-133. Published online February 28, 2022; DOI: https://doi.org/10.4132/jptm.2022.01.04

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Abstract PDF: Background
Phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha (PIK3CA) mutations have been reported in many cancers, including head and neck squamous cell carcinoma (HNSCC). The frequency of these mutations varies among tumor locations and might be relevant to treatment outcomes among HNSCC. In this study, we examined the frequency of PIK3CA mutations in the different subsites of HNSCC.
Methods
Ninety-six fresh biopsy specimens were investigated for mutations in PIK3CA exons 4, 9, and 20 using allele-specific real-time polymerase chain reaction. Patient characteristics and survival were analyzed and compared between specimens with or without PIK3CA mutations.
Results
The study included primary tumors originating from the oral cavity (n=63), hypopharynx (n=23), and oropharynx (n=10). We identified mutations in 10.4% of patients (10 of 96 specimens). The overall mutational frequency was 17.4% (4/23) and 9.5% (6/63) in the hypopharynx and oral cavity, respectively. No patients with oropharyngeal carcinoma had mutations. Among the 10 mutant specimens, five were missense mutations (exon 9 [E545K] in two samples and exon 20 [H1047R] in three samples) and five were silent mutations in exon 20 (T1025T). Mutations were not found in exon 4. Among 84 patients with available clinical data, we found no significant differences in clinical characteristics and survival based on the presence or absence of PIK3CA mutations.
Conclusions
The results indicate that PIK3CA mutations are involved in HNSCC carcinogenesis, and the hypopharynx should be considered a primary site of interest for future studies, particularly in Southeast Asian populations.

Expression of prostate-specific membrane antigen in the neovasculature of primary tumors and lymph node metastasis of laryngeal squamous cell carcinomas: Gamze Erkılınç, Hasan Yasan, Yusuf Çağda Kumbul, Mehmet Emre Sivrice, Meltem Durgun; J Pathol Transl Med. 2022;56(3):134-143. Published online May 3, 2022; DOI: https://doi.org/10.4132/jptm.2022.02.22

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Abstract PDF: Background
Prostate-specific membrane antigen (PSMA) expression is encountered in tumor-associated neovascularization.
Methods
PSMA-antibody was applied to the paraffin blocks of 51 patients who were diagnosed with squamous cell carcinoma of the larynx and underwent laryngectomy and one who underwent lymph node dissection. The percentage of vascular expression in tumoral and extratumoral stroma and lymph nodes and intensity score in tumoral epithelium were evaluated and divided into groups according to the level of PSMA expression. Final PSMA expression was determined by multiplying intensity and percentage scores.
Results
The mean age was 61±10 years. Patients with perineural invasion, cartilage invasion, and local invasion exhibited higher PSMA expression scores. Age, tumor differentiation, tumor diameter, perineural invasion, tumor localization, capsular invasion, depth of invasion, surgical margin status, local invasion, nodal metastasis, TNM classification, and stage were similar in high and low PSMA expression groups. There was no PSMA expression in extratumoral vascular stroma. Significantly higher PSMA expression was observed in the vascular endothelium of metastatic lymph nodes compared with reactive lymph nodes. Patients with advanced-stage disease exhibited higher PSMA vascular expression scores compared to those with earlier stages (p<.001). PSMA expression was not correlated with overall survival, disease-specific survival, or disease-free survival (p>.05).
Conclusions
Our study suggests that higher PSMA expression is associated with cartilage invasion, local invasion, and advanced-stage of disease. PSMA expression can be utilized for detection of lymph node metastasis and has some predictive role in cases of neck metastasis.

Prognostic and clinicopathological significance of Fusobacterium nucleatum in colorectal cancer: a systemic review and meta-analysis: Younghoon Kim, Nam Yun Cho, Gyeong Hoon Kang; J Pathol Transl Med. 2022;56(3):144-151. Published online May 15, 2022; DOI: https://doi.org/10.4132/jptm.2022.03.13

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Abstract PDF Supplementary Material: Background
Fusobacterium nucleatum has been identified to promote tumor progression in colorectal cancer (CRC). However, association between F. nucleatum and prognostic or clinicopathological features has been diverse among studies, which could be affected by type of biospecimen (formalin-fixed paraffin-embedded or fresh frozen [FF]).
Methods
Articles were systemically reviewed for studies that included the correlation between F. nucleatum and prognosis or clinicopathological features in CRC.
Results
Ten articles, eight studies with survival-related features involving 3,199 patients and nine studies with clinical features involving 2,655 patients, were eligible for the meta-analysis. Overall survival, disease-free survival, and cancer-specific survival were all associated with worse prognosis in F. nucleatum–high patients (p<.05). In subgroup analysis, only studies with FF tissues retained prognostic significance with F. nucleatum. In meta-analysis of clinicopathological variables, F. nucleatum level was associated with location within colon, pT category, MLH1 hypermethylation, microsatellite instability status, and BRAF mutation regardless of type of biospecimen. However, lymph node metastasis and KRAS mutation was only associated with F. nucleatum level in FF-based studies.
Conclusions
In conclusion, type of biospecimen could affect the role of F. nucleatum as a biomarker associated with clinicopathological features and prognosis.

Case Studies

A sinonasal yolk sac tumor in an adult: Jaehoon Shin, Ji Heui Kim, Kyeong Cheon Jung, Kyung-Ja Cho; J Pathol Transl Med. 2022;56(3):152-156. Published online January 26, 2022; DOI: https://doi.org/10.4132/jptm.2021.12.09

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Abstract PDF: Yolk sac tumors (YSTs), which are also called endodermal sinus tumors, are malignant tumors of germ cell origin. These tumors usually occur in the gonads, but 20% of cases have been reported at extragonadal sites. The head and neck is a rarely affected region that accounts for just 1% of all malignant tumors of germ cell origin. In addition, YSTs arise mostly in childhood. We present a rare pathologically pure case of primary adult YST in the sinonasal area. A 45-year-old male patient presented with a rapidly growing mass in the nasal cavity, which caused nasal obstruction and bloody post-nasal drip. The histopathologic features indicated pure YST, and immunohistochemical analysis revealed positive reactivity for Sal-like protein 4 and alpha-fetoprotein. Herein, we discuss the clinical, radiologic, and histologic features of this YST and review other cases of sinonasal YST in adults.

Juxtacortical chondromyxoid fibroma in the small bones: two cases with unusual location and a literature review: Sun-Ju Oh, So Hak Chung; J Pathol Transl Med. 2022;56(3):157-160. Published online January 21, 2022; DOI: https://doi.org/10.4132/jptm.2021.12.15

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Abstract PDF: Chondromyxoid fibroma is a rare bone tumor of cartilaginous origin, representing less than 1% of all bone tumors. It preferentially arises in the eccentric location of the metaphysis of a long tubular bone. Juxtacortical locations are reported infrequently in the long bones and even more rarely in short tubular bones, with only three cases documented. Here we present two new cases of juxtacortical chondromyxoid fibroma in the small bones. One was an intracortical osteolytic lesion of the metatarsal bone of the foot with degenerative atypia that histologically should be differentiated from chondrosarcoma. The other was a phalangeal mass protruding into the interphalangeal joint of the hand, which had been labeled mistakenly as a soft tissue mass preoperatively. These cases illustrated that chondromyxoid fibromas have various the manifestations and should be included in the differential diagnosis of an osteolytic lesion or an exophytic mass in the small bones.

Adrenal hemangioblastoma: Joo-Yeon Koo, Kyung-Hwa Lee, Joon Hyuk Choi, Ho Seok Chung, Chan Choi; J Pathol Transl Med. 2022;56(3):161-166. Published online February 28, 2022; DOI: https://doi.org/10.4132/jptm.2021.12.28

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Abstract PDF: Hemangioblastoma (HB) is a rare benign tumor that most commonly occurs in the cerebellum. HB is composed of neoplastic stromal cells and abundant small vessels. However, the exact origin of stromal cells is controversial. Extraneural HBs have been reported in a small series, and peripheral HBs arising in the adrenal gland are extremely rare. Herein, we report a case of sporadic adrenal HB in a 54-year-old woman. The tumor was a well-circumscribed, yellow mass measuring 4.2 cm in diameter. Histologically, the tumor was composed of small blood vessels and vacuolated stromal cells with clear cytoplasm. On immunohistochemical stain, the stromal cells were positive for S-100 protein, neuron-specific enolase, and synaptophysin. The tumor did not reveal mutation of VHL alleles. We herein present a case of HB of the adrenal gland and review of the literature.

Brief Case Report

Vascular Ehlers-Danlos syndrome with distinct histopathologic features: Hee Sang Hwang, Jin Woo Song, Se Jin Jang; J Pathol Transl Med. 2022;56(3):167-169. Published online May 11, 2021; DOI: https://doi.org/10.4132/jptm.2021.03.24

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PDF

Newsletter

What’s new in breast pathology 2022: WHO 5th edition and biomarker updates: Kristen Muller, Julie M. Jorns, Gary Tozbikian; J Pathol Transl Med. 2022;56(3):170-171. Published online May 15, 2022; DOI: https://doi.org/10.4132/jptm.2022.04.25

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Abstract PDF: The 5th edition WHO Classification of Breast Tumours (2019) has introduced changes to our practices. Highlights are presented below, with a focus on modifications to morphological subtype categorization. In addition, we summarize important updates to ER and PR testing made in the 2020 ASCO/CAP guidelines, and briefly discuss PD-L1 and Ki-67 testing in breast cancer.

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