bluuebunny/crossref_metadata_2025_split huggingface dataset:
Molecular Profiling of Unusual Thyroid Neoplasms
Authors: Goel Kanika , Finkelstein Sydney D. , Narick Christina M. , Silverman Jan F. 
Published: September 2023

AbstractThyroid neoplasms comprise a heterogeneous group of tumors, arising most commonly from follicular cells. While some neoplasms such as the papillary thyroid carcinoma have been widely studied and reported in the literature, our knowledge of the less common entities, including anaplastic thyroid carcinoma and medullary thyroid carcinoma is still deficient. In the current medical era, molecular characteristics of the tumors are being increasingly evaluated for their potential role in establishing diagnosis and to guide management. In this review article, we discuss some of the less common thyroid neoplastic entities, with a special focus on their molecular profiles. In addition, we share our own institutional experience obtained from molecular profiling of anaplastic thyroid carcinoma and medullary thyroid carcinoma.
Primary Thyroid Squamous Cell Carcinoma With Complete Response to Radical Surgery and Concurrent Chemoradiotherapy: Diagnostic Pathologic Workup and Clinical Management
Authors: Elsheikh Tarik M. , Adelstein David J. , Koyfman Shlomo A. 
Published: September 2023

Abstract
Primary squamous cell carcinoma (SqCC) of the thyroid gland is an extremely rare, highly aggressive malignancy associated with locally advanced disease and frequent metastases to regional lymph nodes and distant sites. There are no standardized guidelines for treating primary thyroid SqCC because of its rarity, but some investigators have recommended staging and treating it as a variant of anaplastic thyroid carcinoma. Prognosis, however, remains poor with minimal response to treatment and an estimated median survival of 6 to 14 months. We report a case of primary SqCC of the thyroid that was successfully treated with aggressive locoregional resection followed by concurrent radical dose radiotherapy and cisplatin-based chemotherapy. The patient remains free of disease more than 4 years after surgery and adjuvant chemoradiation. Because of potential prognostic and management implications, it is crucial to make an accurate pathologic diagnosis of primary SqCC of the thyroid and distinguish it from metastatic squamous carcinoma and other primary thyroid malignancies with squamous features. A thorough clinicopathologic diagnostic workup including immunohistochemistry, computed tomography scan, and endoscopy is mandatory. In this case, treatment similar to the standard management used for patients with locally advanced mucosal head and neck squamous cancer led to a successful outcome.
The Molecular Pathology of Appendiceal Neoplasms
Authors: Leeming Amy , Worrall David , Arends Mark Johan 
Published: September 2023

Abstract
We review the molecular pathological changes of appendiceal neoplasms, in part using the consensus terminology agreed by the Peritoneal Surface Oncology Group International (Am J Surg Pathol 2016;40(1):14–26; Histopathology 2017;71(6):847–858), with appendiceal neoplasms subcategorized as hyperplastic polyps and serrated lesions (with and without dysplasia), appendiceal mucinous neoplasms (low and high grade), adenocarcinoma, goblet cell tumors, and neuroendocrine neoplasms.
The Enigma of Goblet Cell Tumors of the Appendix
Authors: van Velthuysen Marie-Louise F. , van Eeden Susanne , Carr Norman J. 
Published: September 2023

Abstract
The term goblet cell carcinoid was first proposed in 1974 by Subbuswamy et al for a rare tumor of the appendix. Since then, it has been debated whether these tumors should be regarded as adenocarcinomas or as neuroendocrine tumors. Research on these neoplasms has been hampered by their rarity and the low density of tumor cells. However, their particular morphology legitimates their classification as an entity specific for the appendix. In this review the morphology, immunohistochemical profile and differential diagnosis are discussed. Recent literature on grading and molecular profiling is reviewed. These data show that grading these tumors using their morphologic growth patterns is of prognostic value. At the molecular level, goblet cell tumors differ from other appendiceal neoplasms, colon carcinoma, and neuroendocrine tumors and share similarities with other neoplasms such as diffuse-type gastric carcinoma. Goblet cell carcinomas thus emerge as an interesting target in this era of genetic profiling.
Eosinophilic Esophagitis
Authors: Chandan Vishal S. , Wu Tsung-Teh 
Published: September 2023

Abstract
Eosinophilic esophagitis is an immune-mediated chronic disease of the esophagus. It is clinically characterized by symptoms related to esophageal dysfunction and histologically by eosinophil-rich inflammation with a peak intraepithelial eosinophil count of at least 15 eosinophils per high-power field. Both children and adults can be affected with a strong male predominance. Food appears to be the key trigger, although the exact mechanisms remain unclear. Treatment for eosinophilic esophagitis can be summarized as the 3 D's: dietary, drugs, and dilatation. The differential diagnosis includes gastroesophageal reflux disease, eosinophilic gastroenteritis, drug hypersensitivity, hypereosinophilic syndrome, infection, Crohn disease, connective tissue diseases, and vasculitis.
High-Grade Serous Carcinoma Arising in Retroperitoneal Endosalpingiosis: A Case Report and Brief Review of Peritoneal Serous Metaplasia and Neoplasia
Authors: Richards Stephanie M. , Goel Rinal C. , Staats Paul N. 
Published: September 2023

Abstract
The peritoneum has a close relationship with the epithelium of the fallopian tube and ovarian surface and can thus undergo similar metaplastic and neoplastic processes, including the full spectrum of gynecologic serous neoplasia. We report a case of high-grade serous carcinoma arising in retroperitoneal endosalpingiosis in a patient with a history of ovarian high-grade serous carcinoma, followed by a brief review of peritoneal serous metaplasia and neoplasia.
Desmoplastic Small Round Cell Tumor: The Value of Cytology, Immunohistochemistry, and Molecular Features in the Diagnosis of This Challenging Diagnostic Entity
Authors: Bernieh Anas , Joyner David , Saad Ali G. 
Published: September 2023

Abstract
Desmoplastic small round cell tumor is a rare malignant neoplasm that usually occurs in adolescents and young adult males and typically presents as a large, often multinodular, intra-abdominal mass. The peritoneal cavity is the most common location of the tumor with multiple satellite nodules often noted at presentation. Extra-abdominal locations, such as the lung, kidney, middle ear, stomach, pancreas, pleura, bone, and the central nervous system, have been described. Distant metastases commonly involve the lymph nodes, liver, and lungs. Desmoplastic small round cell tumor is relatively rare, and only few cytologic descriptions are available. We present the case of a 16-year-old boy with unusually rapidly fatal desmoplastic small round cell tumor of the peritoneum with emphasis on the cytologic features. Recent advances in imaging techniques have resulted in increased number of cytologic preparations from unusual tumors or tumors in unusual locations. Morphologically, these tumors often display a divergent phenotype and immunophenotype. Immunohistochemistry plays a pivotal role in the characterization of these tumors and discrimination from other mimickers, particularly other “blue cell tumors.” Once suspected, identification of the characteristic translocation in these tumors confirms the diagnosis. Therefore, awareness of the cytologic features and the divergence of the immunophenotype of this tumor are crucial in order to arrive to the correct diagnosis and to ensure proper management plans of these often difficult-to-treat tumors.
Iron-associated Colitis: A Common Entity in an Uncommon Location
Authors: Reid Whitney L. , Cox Jesse L. , Livingston William C. , Talmon Geoffrey A. 
Published: September 2023

Abstract
Iron-induced mucosal damage is a common finding within the upper gastrointestinal tract. Because of physiologic factors, however, high concentrations of iron rarely reach the distal gastrointestinal tract, thus injury there has not been reported. Here, we present a case in which multiple factors contributed to iron-induced injury in the colon.
Adenosquamous Carcinoma Involving the Gastroesophageal Junction in a 71-Year-Old Man
Authors: Twaddell William Sanderson 
Published: September 2023

Abstract
Adenosquamous carcinoma (ASC) of the esophagus is an uncommon primary esophageal malignancy of uncertain pathogenesis, with several challenges complicating the establishment of a correct diagnosis. Neither the natural history nor the prognostic and therapeutic implications are well understood for this tumor. We report a case of a 71-year-old man who was found to have an ASC at the gastrointestinal junction. The clinicopathologic features as well as what is known of the epidemiology, pathogenesis, and prognosis and treatment of ASC are discussed, along with other possible coexisting disease.
Autoimmune Gastritis: An Underappreciated Entity
Authors: Matsukuma Karen , Torbenson Michael 
Published: September 2023

Abstract
Autoimmune gastritis is a relatively common but likely underdiagnosed form of chronic gastritis that is associated with iron-deficiency anemia as well as vitamin B12/cobalamin deficiency. This disease confers a 13-fold increased risk of gastric well-differentiated neuroendocrine tumors, due to persistently elevated gastrin levels, and a 3- to 7-fold increased risk of gastric adenocarcinoma. The case described here has a typical presentation of the disease, and the following review highlights key histologic features that aid in the identification of this inflammatory process. Additionally, background information on ancillary testing and mechanisms of disease are discussed with a focus on details most useful for the pathologist who is presented with the opportunity to make this often unexpected but medically significant diagnosis.
Squamous Cell Carcinoma With a Focal Neuroendocrine Carcinoma Component at the Esophagogastric Junction
Authors: Inomoto Chie , Kondo Yusuke , Hirabayashi Kenichi , Kumaki Nobue , Hatanaka Kazuhito , Tajiri Takuma , Nakamura Naoya 
Published: September 2023

Abstract
A 60-year-old woman presented to our hospital with a 1-month history of dysphagia. She smoked and consumed alcohol but had no notable past medical history. Physical examination revealed epigastric tenderness, and abdominal computed tomography revealed diffuse thickening of the esophageal wall and stenosis of the esophageal lumen. She underwent a barium-swallowing examination. A tumor that measured approximately 4 cm in length was detected with ulceration and stenosis in the distal esophagus and gastroesophageal junction. Tumor biopsy showed squamous cell carcinoma. Esophagectomy was performed. The pathological diagnosis was squamous cell carcinoma with a neuroendocrine carcinoma component; the latter component made up less than 30% of the lesion. Regional lymph node metastasis, consisting of squamous cell carcinoma and neuroendocrine carcinoma components, was also observed. The patient was diagnosed with multiple liver metastases 2 months postesophagectomy. She died 11 months after the surgery. Here, we present the above case and a review of relevant literature.
HER2 Testing in Gastric and Gastroesophageal Adenocarcinoma—Review and Update
Authors: Koro Konstantin , Swanson Paul E. , Yeh Matthew M. 
Published: September 2023

Abstract
Adenocarcinomas of the stomach and gastroesophageal junction are commonly encountered by practicing pathologists. In cases of advanced unresectable or metastatic disease, a patient may be a candidate for anti–human epidermal growth factor receptor 2 (HER2) targeted therapy. Eligibility for anti-HER2 therapy is determined by the pathologist, following an algorithm utilizing HER2 immunohistochemistry alone or in combination with chromogenic or fluorescence in situ hybridization. HER2 immunohistochemistry is interpreted using 4-tier scoring criteria that were devised and validated specifically for gastric adenocarcinomas. Here, current guidelines for utilization and interpretation of HER2 immunohistochemistry and in situ hybridization are reviewed. Also included is a discussion of some of the interpretation difficulties and pitfalls that may be encountered in routine pathology practice.
Transformed Mycosis Fungoides and Mimics: Exploring the Landscape of CD30+ Cutaneous T-Cell Lymphomas
Authors: Merechi Fikru , Koka Rima , Singh Zeba , Lee Seung Tae , Kallen Michael E. 
Published: September 2023

Abstract
Mycosis fungoides (MF) is an epidermotropic, primary cutaneous T-cell lymphoma (CTCL) with a generally indolent clinical course, although higher stage and transformed tumors can behave more aggressively. Large cell transformation may demonstrate CD30 expression and histologically resemble other CD30+ CTCLs, including lymphomatoid papulomatosis and cutaneous anaplastic large cell lymphoma. These entities are thought to exist on a spectrum with overlapping histologic features; however, it is of clinical importance that we do our best to accurately classify these entities due to the variability in treatment and prognosis. In this report, we present a case of CD30+ transformed MF and discuss the clues that allow us to make the challenging distinction between transformed MF and other CD30+ CTCLs. We review histologic and clinical features of these different disorders, with a focus on the revised World Health Organization classification of primary cutaneous lymphomas.
Transformation of Monoclonal B Lymphocytosis to Epstein-Barr Virus–Positive Large B-Cell Lymphoma With Intermediate Features Between Diffuse Large B-cell Lymphoma and Classic Hodgkin Lymphoma
Authors: Liu Ying , Ho Caleb , Roshal Mikhail , Baik Jeeyeon , Arcila Maria , Zhang Yanming , Dogan Ahmet , Xiao Wenbin 
Published: September 2023

Abstract
Transformation of chronic lymphocytic leukemia (CLL) to an aggressive lymphoma, so-called Richter syndrome, usually includes diffuse large B-cell lymphoma and classic Hodgkin lymphoma. The transformation can be clonally related to the underlying CLL and is often Epstein-Barr virus (EBV) associated. Here we report the case of an 86-year-old woman with a newly identified CLL-like monoclonal B-lymphocytosis who developed diffuse lymphadenopathy. Biopsy of the left axillary lymph node showed EBV-positive large B-cell lymphoma with morphologic and immunophenotypic features intermediate between diffuse large B-cell lymphoma and classic Hodgkin lymphoma, so-called gray zone lymphoma. Comprehensive immunophenotypic, cytogenetic, and molecular studies demonstrate a clonal relatedness that suggests a transformation from monoclonal B-lymphocytosis to EBV+ gray zone lymphoma.
Lymphoblastic Transformation of Follicular Lymphoma: A Case Report and Review of the Literature
Authors: Rosser Julie A. , Thomas Cody A. 
Published: September 2023

Abstract
Follicular lymphoma (FL) is one of the most common B-cell non-Hodgkin lymphomas in adults in the Western world. Prognosis is correlated with the clinical stage and histologic grade and, increasingly, the tumor genetic profile. A subset of patients with FL experiences histologic disease progression (ie, histologic transformation), of which the majority will demonstrate diffuse large B-cell lymphoma. We describe a patient initially diagnosed with low-grade FL with relapsed disease presenting as acute renal failure due to diffuse abdominal lymphadenopathy. Excisional biopsy of an inguinal lymph node at relapse showed high-grade areas with sheets of immature-appearing lymphoid cells adjacent to nodular areas characteristic of low-grade FL. Cells of both components were positive for BCL2 and CD19. The cells of the high-grade component were positive for CD99 and TdT and negative for CD20, whereas cells of the low-grade component were positive for CD20 and negative for CD99 and TdT. Fluorescence in situ hybridization studies demonstrated the IGH/BCL2 rearrangement in addition to an MYC rearrangement in both low- and high-grade components.
B-Lymphoid Blast Phase of Chronic Myeloid Leukemia: A Case Report and Review of the Literature
Authors: Ware Alisha D. , Wake Laura , Brown Patrick , Webster Jonathan A. , Smith B. Douglas , Duffield Amy S. 
Published: September 2023

Abstract
Chronic myeloid leukemia (CML) is a clonal hematopoietic stem cell disorder characterized by a reciprocal translocation, t(9;22)(q34.1;q11.2). This leads to fusion of the BCR and ABL1 genes, encoding an active tyrosine kinase that causes unregulated proliferation of the myeloid lineage. The BCR/ABL1 fusion protein is found not only in CML, but also in a subset of de novo B-lymphoblastic leukemia (B-LL). However, the fusion protein in CML is characteristically the slightly longer p210 variant, whereas the p190 variant is more frequently found in B-LL. Without treatment, CML will progress to accelerated and/or blast phase (BP). Disease progression is often characterized by accumulation of additional chromosomal abnormalities. The development of tyrosine kinase inhibitor (TKI) therapy that targets BCR/ABL1 has revolutionized treatment of CML and vastly improved outcomes, although the disease can still progress despite TKI therapy. Blast phase most commonly manifests as myeloid BP; however, up to 30% of BP presents as lymphoid BP (LBP), typically of the B-cell lineage. The B-lymphoblasts of LBP have a phenotype indistinguishable from that of de novo B-LL. However, LBP typically carries the p210 BCR/ABL transcript and may show distinct chromosomal anomalies, including loss of chromosome 9p. The prognosis for CML-BP is poor, although survival has improved with TKI therapy and stem cell transplant, and LBP has been associated with superior survival compared with myeloid BP. Here we present a case of CML in B-lymphoid BP and review the current literature.
Posttransplant Classic Hodgkin Lymphoma: Richter Transformation or Posttransplant Lymphoproliferative Disorder?
Authors: Lee Ina , Zou Ying , Hodges Susan , Rapoport Aaron P. , Hardy Nancy , Singh Zeba 
Published: September 2023

Abstract
Richter transformation (RT) is defined as the transformation of chronic lymphocytic leukemia/small lymphocytic lymphoma (CLL/SLL) into high-grade lymphoma. An average of 5% of patients with CLL/SLL will have disease that undergoes RT during their clinical course. While most (75%) of these transformed cases manifest as diffuse large B-cell lymphoma, other variants occur, including a small minority (0.4%–0.7%) that progress to a classic Hodgkin lymphoma variant. Richter transformation portends a poor outcome in comparison to nontransformed CLL/SLL. Allogeneic stem cell transplantation (allo-SCT) can be offered, with a 5-year survival rate of 50% to 70%. In addition to disease relapse, transplantation carries significant risk of nonrelapse morbidity, including posttransplant lymphoproliferative disorder (PTLD). The distinction between disease progression or recurrence and PTLD can be challenging and has critical prognostic and therapeutic implications. In this report, we describe a patient whose initial CLL/SLL transformed to diffuse large B-cell lymphoma, who then received allo-SCT. Subsequent development of classic Hodgkin lymphoma proved to be a diagnostic conundrum, for which PTLD and disease progression/recurrence were both reasonable considerations. This case illustrates the diagnostic dilemma and semantic confusion faced by both pathologists and clinicians when lymphoproliferative disorders emerge within the immunologically complex interface of CLL/SLL, RT, and allo-SCT. As molecular technologies are becoming more commonplace in routine diagnostics, subpopulation clonal analysis may be useful in such cases. It may also be worth reevaluating the classification and criteria for PTLD and different subtypes of RT, especially in light of implications for prognosis and optimal therapies.
Congenital Solitary Orbital Juvenile Xanthogranuloma. Report of a Case With Challenging Clinical and Microscopic Presentation
Authors: Nassereddine Hussein , Libert Jordan , Baldeschi Lelio , Van Eeckhout Pascal 
Published: September 2023

Abstract
Juvenile xanthogranuloma (JXG) is a benign cutaneous disorder. Extracutaneous mainly ophthalmic involvement is not uncommon, but congenital solitary forms are extremely rare. We report a case of a male newborn presenting for management of a left orbital mass discovered by prenatal ultrasonography. Magnetic resonance showed an orbital mass of 28-mm diameter with 5-mm intracranial extension through an enlarged superior orbital fissure. Fine-needle aspiration cytology and then an open biopsy were performed. Based on the clinical, morphological, immunohistochemical and molecular studies, a diagnosis of congenital solitary orbital JXG was made, and a wait-and-see strategy was decided. Juvenile xanthogranuloma is regarded as the most common form of non-Langerhans cell histiocytoses. Histiocytoses are rare disorders that were broadly divided into 3 categories, but recently a revised classification was proposed with categorization into 5 groups: the “L” (Langerhans) group, the “C” (cutaneous and mucocutaneous) group, the “M” (malignant) group, the “R” (Rosai-Dorfman disease; RDD) group, and the “H” (hemophagocytic lymphohistiocytosis and macrophage activation syndrome) group. In our case, clinical, histopathological, and radiological features along with molecular and immunohistochemical data are consistent with the diagnosis of JXG of the C group. In conclusion, JXG is capable of spontaneous regression, and for this, its management can be conservative.
Diagnostic Dilemma: Atypical Giant Cell Tumor of Bone Versus Primary Giant Cell Sarcoma
Authors: Shannon Tierney A. , Kelly Sean , Krause Katherine , Krauland Kevin J. , Lybeck Dustin 
Published: September 2023

Abstract
Giant cell tumors of bone (GCTBs) are rare tumors that are locally aggressive but benign. Malignant transformation is described after multiple resections, although more commonly after irradiation. However, there exists a rare variant of GCTB that is malignant in nature. We present a case of a 24-year-old man presenting with 6 weeks of thigh pain. Biopsy demonstrated a benign-appearing GCTB, and final pathology after intralesional curettage yielded the same diagnosis. At 12 weeks postoperatively, a biopsy was performed for a recurrence on imaging, and two independent pathologists confirmed a recurrent GCTB. Single-agent chemotherapy was initiated, yet the patient developed an enlarging soft tissue mass at the same location along with new pulmonary nodules. The patient underwent a third biopsy of the thigh mass as well as a pulmonary wedge resection. The diagnosis at this time was primary giant cell sarcoma of bone. The patient subsequently underwent osteosarcoma-based chemotherapy and above-knee amputation. At 14-month follow-up, patient was found to have biopsy-proven recurrent pulmonary metastatic disease. The differential diagnosis for giant cell rich tumors is broad, and it is often difficult to distinguish benign GCTB from their malignant counterparts. The importance of a multidisciplinary approach involving pathology, medical oncology, radiology, and orthopedic surgery is paramount in difficult and rare cases to establish the proper diagnosis and treatment plan.
Unsuspected Cirrhosis-Like Subtype of Hepatocellular Carcinoma in Explanted Liver: A Review
Authors: Gosse Matthew D. , Appelman Henry D. 
Published: September 2023

AbstractCirrhosis-like hepatocellular carcinoma is a rare subtype of hepatocellular carcinoma that is mostly diagnosed at time of liver transplantation or autopsy and is not clinically suspected preoperatively or premortem. This entity is characterized by numerous distinct neoplastic foci that arise within regenerative cirrhotic nodules. Knowledge of this subtype of HCC is important for comprehensive examination of explanted and autopsy liver specimens. The clinical presentation, gross, histology, and prognosis are discussed in this review.