bluuebunny/crossref_metadata_2025_split huggingface dataset:
Clinical-Pathological Correlation of Breast Non-mass Enhancing Lesions
Authors: Huang W , Han B 
Published: November 2022

Abstract

Introduction/Objective
MRI imaging of breast is mainly reserved for screening high-risk individuals with occasional application in women bearing moderate or average risk. Areas showing enhancement in MRI without space-occupying mass are defined as non-mass enhancement (NME). As biopsy of NME lesion is rare encounter in clinical practice, thorough clinical-pathological investigation is warranted.

Methods/Case Report
289 patients who underwent core biopsy for NME lesion(s) in our institution between 2011 to 2021 were included in this retrospective study. Pathological diagnoses were lumped into 3 categories, namely benign, precursor lesions (atypical ductal hyperplasia, atypical lobular hyperplasia, and lobular carcinoma in situ), and malignant lesions (ductal carcinoma in situ, pleomorphic lobular carcinoma in situ, and invasive carcinoma). The age distribution, MRI indications, and pathological diagnoses stratified by indications were studied. MRI patterns of NME lesions were compared between malignant versus benign lesions.

Results (if a Case Study enter NA)
Patient’s age ranges 25-79 yo (mean age 51.9 yo, median age 50 yo). Indications of MRI include high-risk screening (162 cases, 162/289, 56%), pre-operative staging (116 cases, 116/289, 40%), and problem-solving (11 cases, 11/289, 4%). There are 220 benign cases (220/289, 76%), 50 malignant cases (50/289, 17%), and 19 precursor lesions (19/289, 7%) in this study. There were 16 malignant cases identified in the high-risk group (16/162, 10%), 24 in the pre-operative staging group (24/116, 20.7%), and 2 in problem-solving group (2/11, 18.2%). Focal distribution is significantly associated with malignant lesions as compared to other patterns (linear, segmental, and regional) (Chi-square test, p&lt;0.001).

Conclusion
High-risk screening is the major indication for biopsy NME lesions, followed by pre-operative staging, and problem-solving. Benign lesions are the predominant pathological findings of NME lesions, followed by malignant and then precursor lesions. Malignant lesions were mostly identified in high-risk group, followed by pre-operative staging and problem-solving group. Malignant lesions tend to assume the “focal distribution” than other MRI patterns.
Interstitial Duplication on Chromosome 3p14.3p13 in an Adolescent with Dysmorphic Features and Autism, Case Report
Authors: Abdelwahed M , Jackson R , Yurtsever N , Singh R , Trunca C , Dompreh R , Herman C , Cohen N , Simotas C , Rousseau-pierre T 
Published: November 2022

Abstract

Introduction/Objective
The genetic etiology of autism spectrum disorders is only partially understood. Here we describe a 16-year-old male diagnosed with autism at two years of age. He has dysmorphic features, severe cognitive disability, and history of cryptorchidism. A review of systems was significant for slightly coarse features overall, with deep-set eyes, pinched nasal bridge with wide nasal tip, and widely spaced teeth. A large pectus excavatum deformity was also noted. Although the parent’s genetic testing concluded that this likely represents de novo mutation, it is worth mentioning that our patient has a 13-year-old female maternal first cousin with learning difficulties that were said to be less severe. There is no other family history of autism.

Methods/Case Report
Chromosome analysis showed an abnormal karyotype identifying a duplication of the short arm of chromosome 3 from p13 to p14.3, 46,XY,dup(3)(p13p14.3). Additional microarray testing confirmed this duplication and defined the size as 14.9 Mb. Regions of homozygosity of 29.8 Mb were also identified, representing about 1% of the autosomal genome. The duplicated area includes over 70 genes, thirteen of which are known Mendelian disease genes (IL17RD, HESX1, APPL1, FLNB, DNASEIL3, PDHB, ACOX2, ATXN7, SLC25A26, EOGT, LMOD3, MITF, and FOXP1). Duplications of 3p are extremely rare and can be de novo or inherited from a parent with a balanced translocation. Individuals with these better-described chromosome 3p duplications typically present with intellectual and developmental disabilities, such as autism, as 3p duplications typically present with intellectual and developmental disabilities, such as autism and distinctive dysmorphic features. This duplication has never been reported as a known syndrome and has minimal overlap with copy number variants (CNVs) among healthy individuals.

Results (if a Case Study enter NA)
NA

Conclusion
Autism spectrum disorders are largely characterized by speech, communication, and social impairment of varying degrees. Diagnosis is typically made on clinical grounds, but in 14-35% of cases, a genetic basis for the disorder, typically either due to a single gene disorder or a chromosomal deletion/duplication, may be found. This case report describes a rare finding of a 14.9 Mb interstitial duplication on chromosome 3p.
Supernatant Fluid from Endobronchial Ultrasound-Guided Transbronchial Needle Aspiration for Rapid Next-Generation Sequencing
Authors: Jager L , Jennings L J , Blanco J , Choy B , Nayar R 
Published: November 2022

Abstract

Introduction/Objective
The aims of our study were to optimize the workflow of non-small cell carcinoma (NSCC) endobronchial ultrasound-guided bronchoscopy with transbronchial needle aspiration (EBUS-TBNA) samples to maximize tissue available for next-generation sequencing (NGS), preserve formalin-fixed paraffin-embedded (FFPE) cell blocks (CBs) for future testing, and shorten turnaround time (TAT) of NGS results. We evaluated the performance of supernatant fluid (SNF) processed from a dedicated aspirate for NGS testing.

Methods/Case Report
20 EBUS-TBNA samples positive for NSCC on rapid on-site evaluation were collected and processed using a new workflow (Figure 1). Five aspirates were collected in formalin. One additional dedicated pass was collected fresh and centrifuged. The resulting cell pellet was added to the passes in formalin for FFPE CB processing. The SNF was recentrifuged. DNA and RNA were extracted from concentrated SNF for targeted testing using the Oncomine™ Precision Assay (Thermo Scientific™, Waltham, MA). NGS results from the corresponding FFPE CBs were used as “controls” for comparison.

Results (if a Case Study enter NA)
A total of 31 mutations were detected in SNF (Table 1). The most frequently mutated genes were TP53 (35%), EGFR (23%), KRAS (13%), CTNNB1 (6%), and ERBB2 (6%). EGFR and KRAS amplification, CDKN2A deletion, and SQSTM1-NTRK3 fusion alteration were also detected. There was 100% concordance between the mutations detected in SNF and corresponding FFPE CBs with comparable variant allele frequencies. TAT of NGS results was 1 day for SNF compared to 4 – 10 days for FFPE CB.

Conclusion
In our study, we were able to demonstrate the usefulness of NGS on SNF to provide reliable, rapid molecular results. This testing strategy was successfully incorporated into the workflow for tissue handling and processing between our clinical, cytopathology, and molecular teams. Molecular results were available at the same time as the cytologic diagnosis, allowing for timely reporting of a comprehensive diagnosis. This approach is particularly useful in patients with advanced disease requiring urgent management.
Interleukin 17 Receptor C, but not Polo-like Kinase 4, Plays a Critical Role in the Development of Skin Papilloma and Psoriasis in Mouse Models
Authors: Jin B , Zhang Y , Miller H , He L , You Z 
Published: November 2022

Abstract

Introduction/Objective
Hyperproliferation of epidermis is a histopathological hallmark of skin cancers and psoriasis. As a master regulator of centriole replication, overexpression of Polo-like kinase 4 (PLK4) has been identified in skin cancers. The aberrant proliferation of epidermal keratinocytes provoked by interleukin 17 (IL17) leads to psoriasis. Thus, targeting centriole replication and IL17 signaling simultaneously has been speculated as a potential therapeutic strategy. We hypothesized that inhibition of centriole duplication enhances the blockade of epidermal proliferation through Il17rc knockout.

Methods/Case Report
To test our hypothesis, 37 mice were used to imbed a two-stage model of skin carcinogenesis using wild-type (WT), IL17 receptor A (T779A) knock-in (Il17ra(T779A)-KI), and IL17 receptor C knock-out (Il17rc-KO) C57BL/6J mouse strains. Furthermore, an imiquimod-induced psoriasis model was established using 69 mice with the same strains.

Results (if a Case Study enter NA)
In our two-stage skin carcinogenesis model, Il17ra(T779A)-KI mice showed significantly decreased tumor incidence, tumor multiplicity, and tumor volume compared to the WT mice. Il-17rc-KO mice didn’t develop any skin papilloma. The skin papilloma formed never progressed into squamous carcinoma. However, centrinone, a selective inhibitor of PLK4, didn’t affect skin papilloma formation or epidermal thickening. In our psoriasis model, the epidermis thickness of Il-17rc-KO mice was dramatically decreased compared to WT and Il17ra(T779A)-KI mice. There was no significant difference between WT and Il17ra(T779A)-KI mice in terms of skin lesion and thickening of the epidermis. Centrinone didn’t stall the thickening of the epidermis in the psoriasis model. IHC staining showed significantly increased Ki67+ basal keratinocytes in the untreated skin of Il17ra(T779A)-KI male mice compared to WT mice. In imiquimod-treated skin, the percentage of Ki67+ basal keratinocytes significantly decreased in the order from WT, Il17ra(T779A)-KI to Il17rc-KO mice.

Conclusion
Our data suggest that the proliferation of keratinocytes is not stalled by centrinone but is inhibited by Il17rc-KO. Il17ra(T779A)-KI significantly inhibits skin papilloma formation, but slightly decreases epidermal thickening in the psoriasis model. However, Il17ra(T779A)-KI increases keratinocyte proliferation based on Ki67 staining in the untreated normal skin.
Sarcomatoid Adrenal Cortical Carcinoma: Report of a Rare Case
Authors: Hosseini H , Sham S , Unger P , Yanke B 
Published: November 2022

Abstract

Introduction/Objective
Adrenal cortical carcinoma (ACC) is a rare neoplasm with oncocytic, myxoid, and sarcomatoid variants. Sarcomatoid is the least common variant. To our knowledge, there are only 23 cases of sarcomatoid ACC reported in the English literature. Typically, ACC’s express SF1, Melan A, inhibin, and synaptophysin. It has been reported that the sarcomatoid component does not express the aforementioned immunomarkers; however, it can display mutational expression of p53 and β-catenin.

Methods/Case Report
A 77-year-old man was incidentally found to have a left adrenal gland mass. Hormone levels were unremarkable, and adrenalectomy was performed. Gross examination of the specimen revealed a 4.5 cm well-circumscribed tan and focally hemorrhagic mass confined to the adrenal gland. Histologically, the mass was composed of pleomorphic round to polygonal cells with clear to eosinophilic cytoplasm and spindle cells. The mitotic count exceeded 20 in 50 high power fields. Lymphovascular invasion and extensive necrosis were present. Immunohistochemical studies revealed that the sarcomatoid component expressed SF1 and synaptophysin focally. The non-sarcomatoid component exhibited focal expression of synaptophysin and diffuse expression of SF1 and Melan A. Both components displayed null expression of p53, and neither expressed β-catenin. Ki67 proliferation index was &gt; 95% in the sarcomatoid component.

Results (if a Case Study enter NA)
NA

Conclusion
In sarcomatoid ACC, both sarcomatoid and non-sarcomatoid components have been shown to harbor TP53 and CTNNB1 mutations, with the latter leading to activation of Wnt pathway and causing diffuse and strong nuclear expression of β-catenin. In the present case, tumor cells lacked expression of p53, which might have played a role in the evolution of the tumor.
Elastotic Mass-Forming Lesion of the Omentum; A New Pathological Entity
Authors: Ali M , Zhou Z 
Published: November 2022

Abstract

Introduction/Objective
Elastotic lesions are rare benign mass-forming entity. Although, few reports of mucosal and submucosal elastotic lesions have been previously described, localization of these lesions in the omentum is not previously described in the literature.

Methods/Case Report
We report a case of 60-year-old man with medical history of obesity, hypertension, diabetes mellitus, and a remote abdominal surgery in 1980s who presented to the emergency room complaining of abrupt severe constant epigastric pain that started few hours before. The pain was not relieved by antiacid or analgesic medications. CT of the abdomen showed multiple distended fluid-filled loops of small bowel in mid abdomen with infiltrative changes of mesentery. A diagnosis of small bowel obstruction was made, and patient proceed to have an exploratory laparotomy. During the procedure, extensive adhesions between small bowel and omentum and small bowel obstruction due to a phytobezoar were noted for which he underwent lysis of adhesion, excision of thickened omentum, and enterotomy for removal of significant food bezoar. Grossly, the omentum has multiple chalky tan-gray masses ranging between 1.2 and 1.0 cm in greatest dimension surrounded by indurated fatty tissue. Microscopically, multiple hypocellular foci are seen that are composed almost entirely of truncated elastic fibers, with sparse delicate bands of collagen and scattered prominent thick-walled vessels. Elastic stain highlights these elastic fibers while trichrome stains the elastic fibers pale gray in contrast to the bright blue color of the collagen fibers. Mucicarmine, and Congo red are negative. Patient tolerated the procedure well however, postoperatively he had local wound infection leading to prolonged skin dehiscence.

Results (if a Case Study enter NA)
NA.

Conclusion
Elastotic mass-forming lesions in the omentum is a new entity that has not been described before in this location that can clinically manifest with signs and symptoms of bowel obstruction. We suggested the name of elastomatosis omentum.
Adrenal Hemangioma Presenting as an Incidentaloma Clinically Suspicious for Malignancy
Authors: Toklu A , Mesa H , Collins K 
Published: November 2022

Abstract

Introduction/Objective
Adrenal hemangiomas are rare, benign and non-functioning tumors. Clinical diagnosis can be challenging given that the presentation is usually vague and lesions are often found incidentally during diagnostic imaging performed for other reasons.

Methods/Case Report
We report a case of a 67-year-old man with history of hypertension, hyperlipidemia, and anemia, arthralgia and joint swelling with unexplained weight loss, which prompted imaging studies. Computed tomography (CT) scan revealed a 5.4 cm mass involving the left adrenal gland. The patient had no clinical manifestations of adrenal medullary or cortical hyperfunction. Biochemical testing performed included urine and plasma metanephrines and aldosterone/renin ratio, which yielded results within normal range. The patient was taking prednisone for hand and ankle swelling, precluding assessment for Cushing’s syndrome. Given the size of the lesion, the possibility of malignancy was considered. The patient elected for a left adrenalectomy. Gross examination revealed a 4.9 cm mass, weighing 54 grams, with a tan-brown, congested cut surface and a thin rim of residual normal appearing adrenal gland parenchyma. Histologic examination of the surgical specimen showed an enlarged adrenal gland predominantly replaced by hemorrhage with foci of thick and thin walled vessels with areas of intermingled adrenocortical elements at the periphery. A diagnosis of adrenal hemangioma was made.

Results (if a Case Study enter NA)
NA.

Conclusion
Adrenal hemangioma should be considered in the differential diagnosis of adrenal tumors. Surgical resection is the mainstay of treatment for a large, isolated adrenal mass to exclude malignancy and prevent retroperitoneal hemorrhage.
A New Insight Into Ectopic Sebaceous Glands in the Vagina: A Result of Surgery?
Authors: Patel R , Sallagonda A , Florence R , West L 
Published: November 2022

Abstract

Introduction/Objective
Ectopic sebaceous glands with or without hair follicles are well documented in a variety of sites including the vulva, cervix, esophagus, and male genitalia. Ectopic sebaceous glands in the vagina, however, are extremely rare, with only 2 case reports and a third case described in a journal correspondence letter in the English literature.

Methods/Case Report
We present a 39-year-old patient with Laurence-Moon-Biedl syndrome with pseudotumor cerebri, retinitis pigmentosa/macular degeneration, chronic kidney disease status post renal transplant, obesity, diabetes insipidus, and a urethrovaginal fistula and hypoplastic vagina status post repair and vaginoplasty at age 3 months. High grade squamous intraepithelial lesion on a cervicovaginal Pap test prompted colposcopy, during which a confluent plaque non-staining with Lugol’s solution was noted on the right vaginal sidewall extending from the introitus to 4 cm distal to the cervix. Biopsy of this area revealed hyper- and parakeratosis along with sebaceous glands and hair follicles in the subepithelial stroma. Two theories are proposed in the literature regarding the origin of vaginal ectopic sebaceous glands/cutaneous adnexal structures. The first is a developmental anomaly with aberrant differentiation in-utero, as the lower two thirds of the vagina is normally endodermal in origin and the upper one third is derived from mesoderm, while cutaneous adnexal structures are ectodermal in origin. The second postulates sebaceous glands in the vagina arise from a metaplastic process after prolonged irritation or inflammation. We add a third possibility in this patient, that vaginal plastic surgery performed at 3 months of age involved tissue re- arrangement or grafting which introduced ectodermal structures to the vagina. The patient’s vaginal surgical records were not available for review.

Results (if a Case Study enter NA)
NA.

Conclusion
We add a fourth case of ectopic cutaneous adnexal structures in the vagina in a patient with Laurence-Moon-Biedl syndrome to the literature. The origin of these structures may have resulted from vaginal surgery as an infant rather than from a developmental anomaly or metaplasia.
Eosinophils Are a Useful Morphologic Marker to Scrutinize Plasma Cells in Endometrial Polyps
Authors: Afolayan-Oloye O , Anderson J , Zhang P 
Published: November 2022

Abstract

Introduction/Objective
Chronic endometritis is characterized by presence of plasma cells, which can be confirmed by immune-staining for CD138. Endometrial polyps can irritate endometrium and harbor some plasma cells. As eosinophils are much easier to be identified than plasma cells on hematoxylin and eosin stained sections, the goal of this study was to investigate if the identification of eosinophils in endometrial polyps was useful to alert us for looking for plasma cells more carefully.

Methods/Case Report
Twenty-eight (28) endometrial polyp cases were retrospectively selected and eosinophils and plasma cells were searched microscopically. Cases with eosinophils and/or plasma cells found per high power filed were further stained for CD138.

Results (if a Case Study enter NA)
There were 8 cases with positive eosinophils (eosinophil group) and 18 cases without eosinophils (negative group). Age from eosinophil group ranged from 32 to 54 years old and the negative group has ages ranged from 32 to 72 years old. In eosinophil group, six of eight (6/8) cases in eosinophil group was correlated with positive CD138 positive plasma cells (ranging from 2 to 24 per high power field), whereas 2/8 cases had 1 eosinophil without confirmed CD138+ plasma cells. Negative group without eosinophils had no plasma cells identified.

Conclusion
Our data indicate that eosinophils can be an easy target for the next step to scrutinize plasma cells in endometrial polyps, thus promoting an accurate evaluation of chronic endometritis.
A Rare Case of Non-Gestational Ovarian Mixed Intermediate Trophoblastic Tumor Associated with a Mature Cystic Teratoma
Authors: Awuku J A , Elshaikh A 
Published: November 2022

Abstract

Introduction/Objective
Ovarian non-gestational trophoblastic tumors are rare with only a few documented cases. We report a case of a 22-year-old non-sexually active woman who presented to the emergency department with ongoing left lower quadrant abdominal pain. Workup showed elevated Beta-human chorionic gonadotropin levels (152 mIU/mL) and a left ovarian mass. This was initially thought to be an ectopic pregnancy, however patient was non- sexually active. Patient underwent a left oophorectomy and the specimen was sent to pathology.

Methods/Case Report
Microscopic examination of the ovary revealed a mature cystic teratoma with intimately associated foci of loosely cohesive pleomorphic atypical cells. The atypical cells also replaced some of the blood vessel walls and infiltrated the residual ovarian parenchyma. Mitoses were present at (2/10hpf). No necrosis or chorionic villi were identified. Immunohistochemical stains were performed, and the atypical cells were positive for GATA3, inhibin, and human placental lactogen. These cells also showed an elevated ki67 proliferative index (15%). All these findings supported a diagnosis of a placental site trophoblastic tumor. Focally, well-defined cystic structures composed of large epithelioid cells were also noted. These epithelioid cells were positive for GATA3, inhibin, and p63. These cells were negative for human placental lactogen and showed an elevated ki67 proliferative index (12%), findings consistent with an epithelioid trophoblastic tumor component.
Ovarian intermediate trophoblastic tumors are rare and could be of gestational or non-gestational origin. To confirm a non-gestational origin, DNA genotyping was performed. Results showed identical genetic profiles in the teratoma, the intermediate trophoblastic tumor, and in the patient’s benign ovarian tissue. This finding confirmed the diagnosis of a non-gestational mixed intermediate trophoblastic tumor associated with a mature cystic teratoma. This tumor is exceedingly rare with only a few reported cases in literature.

Results (if a Case Study enter NA)
NA

Conclusion
The diagnosis of a non-gestational mixed intermediate trophoblastic tumor is exceedingly rare with only a few reported cases in literature. The combination of immunohistochemistry and dna genotyping confirmed our suspicion and yielded the correct diagnosis.