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Article ; Online: Selected Topics in the Pathology of the Thyroid and Parathyroid Glands in Children and Adolescents.

Ozolek, John A

2021 Volume 15, Issue 1, Page(s) 85–106

Abstract: The goals of this chapter in keeping with the overall general themes of this special edition will be (1) to highlight aspects of development of the thyroid and parathyroid glands with particular focus on the role and contribution of the neural crest (or ... ...

Abstract	The goals of this chapter in keeping with the overall general themes of this special edition will be (1) to highlight aspects of development of the thyroid and parathyroid glands with particular focus on the role and contribution of the neural crest (or not) and how this may impact on the pathology that is seen, (2) to emphasize those lesions particularly more commonly arising in the pediatric population that actually generate specimens that the surgical pathologist would encounter, and (3) highlight more in depth specific lesions associated with heritable syndromes or specific gene mutations since the heritable syndromes tends to manifest in the pediatric age group. In this light, the other interesting areas of pediatric thyroid disease including medical thyroid diseases, congenital hypothyroidism, anatomic variants and aberrations of development that lead to structural anomalies will not be emphasized here.
MeSH term(s)	Adolescent ; Child ; Child, Preschool ; Female ; Humans ; Infant ; Male ; Parathyroid Diseases/pathology ; Thyroid Diseases/pathology
Language	English
Publishing date	2021-03-15
Publishing country	United States
Document type	Journal Article ; Review
ZDB-ID	2407834-7
ISSN	1936-0568 ; 1936-055X
ISSN (online)	1936-0568
ISSN	1936-055X
DOI	10.1007/s12105-020-01274-5
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Article ; Online: THE "-OMAS" and "-OPIAS": Targeted and Philosophical Considerations Regarding Hamartomas, Choristomas, Teratomas, Ectopias, and Heterotopias in Pediatric Otorhinolaryngologic Pathology.

Ozolek, John A / Tekkesin, Merva Soluk

Head and neck pathology

2021 Volume 15, Issue 1, Page(s) 25–40

Abstract: The spectrum of "developmental" lesions that occur in the head and neck predominantly congenital in origin and arising at birth and/or discovered in childhood is broad and fascinating. These have been grouped into categories such as "ectopias", " ... ...

Abstract	The spectrum of "developmental" lesions that occur in the head and neck predominantly congenital in origin and arising at birth and/or discovered in childhood is broad and fascinating. These have been grouped into categories such as "ectopias", "heterotopias", "hamartomas", and "choristomas". On a philosophical and consequently systematic level, these lesions, mostly benign tumors seem to lack a true understanding of the pathogenetic foundation on which to base a more unified taxonomic designation. In this review, we will consider some of these select tumors as they represent syndromic associations (nasal chondromesenchymal hamartoma and DICER1 syndrome), the lingual choristoma from the perspective of its nomenclature and classification, lesions with ectopic meningothelial elements, and teratomas and the enigmatic "hairy polyp" in reference to a broader discussion of pathogenesis and pluripotent cells in the head and neck. A consistent thread will be how these lesions are designated with some final thoughts on future directions regarding the investigation of their pathogenesis and taxonomic nomenclature.
MeSH term(s)	Child ; Choristoma/congenital ; Choristoma/pathology ; Female ; Hamartoma/congenital ; Hamartoma/pathology ; Head/abnormalities ; Head/pathology ; Humans ; Male ; Neck/abnormalities ; Neck/pathology ; Otorhinolaryngologic Diseases/congenital ; Otorhinolaryngologic Diseases/pathology ; Teratoma/congenital ; Teratoma/pathology
Language	English
Publishing date	2021-03-15
Publishing country	United States
Document type	Journal Article ; Review
ZDB-ID	2407834-7
ISSN	1936-0568 ; 1936-055X
ISSN (online)	1936-0568
ISSN	1936-055X
DOI	10.1007/s12105-020-01251-y
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Article ; Online: Transport-based morphometry of nuclear structures of digital pathology images in cancers.

Rabbi, Mohammad Shifat E / Ironside, Natasha / Ozolek, John A / Singh, Rajendra / Pantanowitz, Liron / Rohde, Gustavo K

ArXiv

2023

Abstract: Alterations in nuclear morphology are useful adjuncts and even diagnostic tools used by pathologists in the diagnosis and grading of many tumors, particularly malignant tumors. Large datasets such as TCGA and the Human Protein Atlas, in combination with ... ...

Abstract	Alterations in nuclear morphology are useful adjuncts and even diagnostic tools used by pathologists in the diagnosis and grading of many tumors, particularly malignant tumors. Large datasets such as TCGA and the Human Protein Atlas, in combination with emerging machine learning and statistical modeling methods, such as feature extraction and deep learning techniques, can be used to extract meaningful knowledge from images of nuclei, particularly from cancerous tumors. Here we describe a new technique based on the mathematics of optimal transport for modeling the information content related to nuclear chromatin structure directly from imaging data. In contrast to other techniques, our method represents the entire information content of each nucleus relative to a template nucleus using a transport-based morphometry (TBM) framework. We demonstrate the model is robust to different staining patterns and imaging protocols, and can be used to discover meaningful and interpretable information within and across datasets and cancer types. In particular, we demonstrate morphological differences capable of distinguishing nuclear features along the spectrum from benign to malignant categories of tumors across different cancer tissue types, including tumors derived from liver parenchyma, thyroid gland, lung mesothelium, and skin epithelium. We believe these proof of concept calculations demonstrate that the TBM framework can provide the quantitative measurements necessary for performing meaningful comparisons across a wide range of datasets and cancer types that can potentially enable numerous cancer studies, technologies, and clinical applications and help elevate the role of nuclear morphometry into a more quantitative science. The source codes implementing our method is available at https://github.com/rohdelab/nuclear_morphometry.
Language	English
Publishing date	2023-02-02
Publishing country	United States
Document type	Preprint
ISSN	2331-8422
ISSN (online)	2331-8422
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Article ; Online: Hamartoma of the Oral Cavity with Ectopic Meningothelial Elements in Infants: A Rare Entity with Report of Two Cases.

Tekkeşin, Merva Soluk / Chiosea, Simion I / Ozolek, John A

Head and neck pathology

2019 Volume 14, Issue 1, Page(s) 268–271

Abstract: Choristomas and hamartomas within the oral cavity are relatively uncommon lesions and may present with diverse clinical and histopathological appearances. In this report, we describe two infant patients with hamartoma with ectopic meningothelial elements ...

Abstract	Choristomas and hamartomas within the oral cavity are relatively uncommon lesions and may present with diverse clinical and histopathological appearances. In this report, we describe two infant patients with hamartoma with ectopic meningothelial elements involving tongue and maxillary alveolar ridge. To the best of our knowledge, these are the first two cases in which a meningothelial proliferation has been identified in the oral cavity. Hamartoma with ectopic meningothelial elements is a rare condition that has been classically described occurring in the scalp. These lesions are characterized by bland round to spindle-shape cells that interdigitate through collagen bundles and express progesterone receptor and epithelial membrane antigen by immunohistochemistry supporting a meningothelial origin.
MeSH term(s)	Choristoma/pathology ; Hamartoma/pathology ; Humans ; Infant ; Male ; Meninges ; Mouth Diseases/pathology
Language	English
Publishing date	2019-03-06
Publishing country	United States
Document type	Case Reports ; Journal Article
ZDB-ID	2407834-7
ISSN	1936-0568 ; 1936-055X
ISSN (online)	1936-0568
ISSN	1936-055X
DOI	10.1007/s12105-019-01024-2
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Book ; Online: Transport-based morphometry of nuclear structures of digital pathology images in cancers

Rabbi, Mohammad Shifat E / Ironside, Natasha / Ozolek, John A / Singh, Rajendra / Pantanowitz, Liron / Rohde, Gustavo K

2023

Abstract	Alterations in nuclear morphology are useful adjuncts and even diagnostic tools used by pathologists in the diagnosis and grading of many tumors, particularly malignant tumors. Large datasets such as TCGA and the Human Protein Atlas, in combination with emerging machine learning and statistical modeling methods, such as feature extraction and deep learning techniques, can be used to extract meaningful knowledge from images of nuclei, particularly from cancerous tumors. Here we describe a new technique based on the mathematics of optimal transport for modeling the information content related to nuclear chromatin structure directly from imaging data. In contrast to other techniques, our method represents the entire information content of each nucleus relative to a template nucleus using a transport-based morphometry (TBM) framework. We demonstrate the model is robust to different staining patterns and imaging protocols, and can be used to discover meaningful and interpretable information within and across datasets and cancer types. In particular, we demonstrate morphological differences capable of distinguishing nuclear features along the spectrum from benign to malignant categories of tumors across different cancer tissue types, including tumors derived from liver parenchyma, thyroid gland, lung mesothelium, and skin epithelium. We believe these proof of concept calculations demonstrate that the TBM framework can provide the quantitative measurements necessary for performing meaningful comparisons across a wide range of datasets and cancer types that can potentially enable numerous cancer studies, technologies, and clinical applications and help elevate the role of nuclear morphometry into a more quantitative science. The source codes implementing our method is available at https://github.com/rohdelab/nuclear_morphometry.
Keywords	Quantitative Biology - Quantitative Methods
Subject code	006
Publishing date	2023-02-02
Publishing country	us
Document type	Book ; Online
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Article ; Online: Surgical Correction of True Diphallia in a Newborn Male.

Samadi, Yasamin / Werner, Zachary / Crigger, Chad / Elbakry, Amr / Ozolek, John / Al-Omar, Osama

Urology

2021 Volume 156, Page(s) e117–e120

Abstract: Diphallia is an exceedingly rare anomaly characterized by partial or complete duplication of the phallus. Approximately 100 cases have been reported worldwide since its initial documentation, and incidence is estimated at 1 in 5 to 6 million live births. ...

Abstract	Diphallia is an exceedingly rare anomaly characterized by partial or complete duplication of the phallus. Approximately 100 cases have been reported worldwide since its initial documentation, and incidence is estimated at 1 in 5 to 6 million live births. Therapeutic management is dependent on the extent of the anomaly, ranging from phallic excision to complex reconstructive procedures in cases of broader systemic involvement. We present the case of congenital true diphallia with associated penoscrotal transposition, bifid scrotum, partial urethral duplication, ventral chordee, large scrotal lipoma and sacral dimple. We further present a review of available literature pertaining to diphallia.
MeSH term(s)	Humans ; Infant, Newborn ; Male ; Penis/abnormalities ; Penis/surgery
Language	English
Publishing date	2021-07-17
Publishing country	United States
Document type	Case Reports ; Journal Article ; Review
ZDB-ID	192062-5
ISSN	1527-9995 ; 0090-4295
ISSN (online)	1527-9995
ISSN	0090-4295
DOI	10.1016/j.urology.2021.06.037
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Article ; Online: Pediatric Benign Tumors With a Skeletal Muscle Component: Myogenin Expression, Diagnostic Pitfalls, and New Molecular Insights.

Berklite, Lara / Ozolek, John / Wang, Larry / Santoro, Luisa / Donofrio, Vittoria / Stracuzzi, Alessandra / John, Ivy / Alaggio, Rita

Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society

2021 Volume 24, Issue 3, Page(s) 213–226

Abstract: Objectives: Benign tumors with skeletal muscle differentiation are rare and their characterization in the literature is limited. We present a series of twelve pediatric benign tumors with rhabdomyomatous differentiation including seven rhabdomyomatous ... ...

Abstract	Objectives: Benign tumors with skeletal muscle differentiation are rare and their characterization in the literature is limited. We present a series of twelve pediatric benign tumors with rhabdomyomatous differentiation including seven rhabdomyomatous mesenchymal hamartomas, four fetal rhabdomyomas, and one benign triton tumor, analyzing myogenic markers as well as clinicopathologic and molecular features. A review of the literature was also performed with an emphasis on myogenic marker expression and correlation with molecular features. Methods and results: Cases obtained from three tertiary pediatric hospitals were retrospectively reviewed. Eleven of twelve cases expressed myogenin in rare to greater than 15% of cells. Five of nine cases had rare to 70-80% of cells positive for MyoD1. One fetal rhabdomyoma demonstrated homozygous deletions in Conclusions: Myogenin and MyoD1 may be variably expressed in benign lesions with skeletal muscle differentiation. Recognition of key morphologic features remains critical to diagnose these lesions and, in rhabdomyoma, to exclude malignancy. Our series expands the knowledge of the relationship between rhabdomyoma and rhabdomyosarcoma (RMS) by identifying a shared molecular alteration in
MeSH term(s)	Biomarkers, Tumor/metabolism ; Child ; Child, Preschool ; Diagnosis, Differential ; Female ; Humans ; Infant ; Male ; Myogenin/metabolism ; Neoplasms, Muscle Tissue/pathology
Chemical Substances	Biomarkers, Tumor ; Myogenin
Language	English
Publishing date	2021-03-08
Publishing country	United States
Document type	Journal Article
ZDB-ID	1463498-3
ISSN	1615-5742 ; 1093-5266
ISSN (online)	1615-5742
ISSN	1093-5266
DOI	10.1177/1093526621998932
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Article ; Online: Selective pathologies of the head and neck in children: a developmental perspective.

Ozolek, John A

Advances in anatomic pathology

2009 Volume 16, Issue 5, Page(s) 332–358

Abstract: The range of pathology seen in the head and neck region is truly amazing and to a large extent probably mirrors the complex signaling pathways and careful orchestration of events that occurs between the primordial germ layers during the development of ... ...

Abstract	The range of pathology seen in the head and neck region is truly amazing and to a large extent probably mirrors the complex signaling pathways and careful orchestration of events that occurs between the primordial germ layers during the development of this region. As is true in general for the entire discipline of pediatric pathology, the head and neck pathology within this age group is as diverse and different as its adult counterpart. Cases that come across the pediatric head and neck surgical pathology bench are more heavily weighted toward developmental and congenital lesions such as branchial cleft anomalies, thyroglossal duct cysts, ectopias, heterotopias, choristomas, and primitive tumors. Many congenital "benign" lesions can cause significant morbidity and even mortality if they compress the airway or other vital structures. Exciting investigations into the molecular embryology of craniofacial development have begun to shed light on the pathogenesis of craniofacial developmental lesions and syndromes. Much more investigation is needed, however, to intertwine aberrations in the molecular ontogeny and development of the head and neck regions to the represented pathology. This review will integrate traditional morphologic embryology with some of the recent advances in the molecular pathways of head and neck development followed by a discussion of a variety of developmental lesions finishing with tumors presumed to be derived from pluripotent/progenitor cells and tumors that show anomalous or aborted development.
MeSH term(s)	Animals ; Branchial Region/abnormalities ; Branchial Region/pathology ; Carcinoma/pathology ; Child ; Choristoma/pathology ; Craniofacial Abnormalities/pathology ; Head/abnormalities ; Head/pathology ; Head and Neck Neoplasms/pathology ; Humans ; Mediastinal Cyst/pathology ; Neck/abnormalities ; Neck/pathology ; Thyroid Neoplasms/pathology
Language	English
Publishing date	2009-09
Publishing country	United States
Document type	Journal Article ; Review
ZDB-ID	1212493-x
ISSN	1533-4031 ; 1072-4109
ISSN (online)	1533-4031
ISSN	1072-4109
DOI	10.1097/PAP.0b013e3181b50571
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Zs.A 4118: Show issues

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Article ; Online: Endoscopic-Assisted Resection of a Novel Nasopharyngeal Hairy Polyp and Odontoma in an Infant.

Roberts, Christopher / Castaño, Johnathan / Ozolek, John / Smith, Mark Cody / Kiefer, Autumn / Ramadan, Hassan H / Makary, Chadi A

Ear, nose, & throat journal

2021 , Page(s) 1455613211065516

Language	English
Publishing date	2021-12-13
Publishing country	United States
Document type	Journal Article
ZDB-ID	750153-5
ISSN	1942-7522 ; 0145-5613
ISSN (online)	1942-7522
ISSN	0145-5613
DOI	10.1177/01455613211065516
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Article ; Online: Cutaneous Ewing Sarcoma Presenting as a Second Primary Malignancy in a Child.

Daley, Jessica / Williams, Nathan / Salgado, Claudia M / Schultz, Charles / Meade, Julia / Ozolek, John / Lindsey, Brock / Bailey, Kelly M

Journal of pediatric hematology/oncology

2022 Volume 44, Issue 8, Page(s) 486–488

Abstract: Ewing sarcoma is an EWS-ETS family member-driven malignancy that most commonly arises from bone. Cutaneous Ewing sarcoma is a rare variant which harbors an EWS-ETS family fusion but demonstrates an immunohistochemical staining pattern distinct from ... ...

Abstract	Ewing sarcoma is an EWS-ETS family member-driven malignancy that most commonly arises from bone. Cutaneous Ewing sarcoma is a rare variant which harbors an EWS-ETS family fusion but demonstrates an immunohistochemical staining pattern distinct from classic Ewing tumors. EWSR1 fluorescence in situ hybridization testing interpretation can be challenging in the setting of cutaneous Ewing sarcoma, making an integrated histologic and sequencing approach key for an accurate diagnosis. Here, we report a pediatric patient with a history of neuroblastoma treated with surgery only that developed a cutaneous nodule and was diagnosed with cutaneous Ewing sarcoma as a second primary cancer.
MeSH term(s)	Humans ; Child ; Sarcoma, Ewing/diagnosis ; Sarcoma, Ewing/genetics ; Sarcoma, Ewing/pathology ; Neoplasms, Second Primary/diagnosis ; Neoplasms, Second Primary/genetics ; In Situ Hybridization, Fluorescence ; Oncogene Proteins, Fusion/genetics ; RNA-Binding Protein EWS/genetics ; Family ; Bone Neoplasms/diagnosis ; Bone Neoplasms/genetics ; Bone Neoplasms/pathology
Chemical Substances	Oncogene Proteins, Fusion ; RNA-Binding Protein EWS
Language	English
Publishing date	2022-04-14
Publishing country	United States
Document type	Journal Article ; Research Support, N.I.H., Extramural ; Research Support, Non-U.S. Gov't
ZDB-ID	1231152-2
ISSN	1536-3678 ; 1077-4114 ; 0192-8562
ISSN (online)	1536-3678
ISSN	1077-4114 ; 0192-8562
DOI	10.1097/MPH.0000000000002457
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