bluuebunny/crossref_metadata_2025_split huggingface dataset:
PERITONEAL KERATIN GRANULOMAS MIMICKING PERITONEAL CARCINOMATOSIS: A POTENTIAL DIAGNOSTIC PITFALL
Authors: ANAND S , Muhammad A , Haeggstroem M , Fiedler P 
Published: October 2024

Abstract

Introduction/Objective
Keratin granulomas from a primary uterine cancer can present as peritoneal tumor nodules, mimicking peritoneal carcinomatosis. Endometrial adenocarcinomas with viable peritoneal tumor implants and/or involvement of bladder or bowel mucosa are categorized as stage IV disease. We present a rare case of endometrial adenocarcinoma of the uterus with squamous differentiation and multiple peritoneal nodules of keratin granulomas, masquerading as peritoneal carcinomatosis.

Methods/Case Report
A 68-year-old female with insignificant past medical history presented with complaints of postmenopausal bleeding for the past four months. Physical examination was unremarkable. Transvaginal ultrasound showed a 4.9 cm echogenic mass in the uterus. The endometrial biopsy showed squamous debris with atypical cells suspicious of malignancy. Endometrial curettings revealed endometrial adenocarcinoma, endometrioid type with squamous differentiation, FIGO Grade 1. Subsequently, she underwent hysterectomy with bilateral salpingo- oophorectomy. Intraoperatively, multiple suspicious nodules on the sigmoid colon and in the pelvis were identified, of which excisional biopsies and pelvic peritoneal washing were taken. Microscopic examination of the resection confirmed endometrial adenocarcinoma, FIGO Grade 1, nuclear grade 1, with extensive foreign body giant cell reaction to dead squamous cells (ghost cells). Cytologic examination of the peritoneal washing was unremarkable and excisions of the sigmoid serosal and peritoneal nodules showed pink eosinophilic laminated nodules surrounded by inflammatory cells including plasma cells, lymphocytes and multinucleated giant cells without any viable tumor cells.

Results (if a Case Study enter NA)
NA

Conclusion
Keratin granulomas are a foreign body reaction to keratin deposition from the squamous component of endometrioid adenocarcinoma. The pathogenesis of this foreign body response to keratin is considered to be a trans- tubal spread of keratin through retrograde shedding from the fallopian tubes. In the absence of viable tumor cells, it appears to have no negative prognostic significance. Careful microscopic examination of peritoneal keratin granulomas is imperative to avoid erroneous upstaging of the tumor and the subsequent advanced treatment.
A Case Series of a Rare Parotid Gland Oncocytic Mucoepidermoid Carcinoma
Authors: Gupta D , Smith W , Shaar M , Baloi D 
Published: October 2024

Abstract

Introduction/Objective
We analyzed two cases of oncocytic mucoepidermoid carcinoma (OMEC) of the parotid gland which highlight the diagnostic challenges of oncocytic salivary gland neoplasms. OMEC’s are a rare type of salivary gland tumor commonly arising from the parotid gland that can easily be mistaken as benign. Proper pathologic diagnosis of these masses is critical, as it guides therapeutic intervention and has prognostic significance.

Methods/Case Report
In this case series, two patients were analyzed retrospectively for unilateral parotid masses.

Results (if a Case Study enter NA)
In a 67-year-old female, an MRI and biopsy were performed. Only a differential diagnosis could be provided, which favored oncocytoma or oncocytic carcinoma. Due to this uncertainty, a complete excision of the mass was performed. Considering the cytomorphology, immunohistochemistry (CK5/6 and P63 in oncocytes), and mucicarmine special stain highlighting scattered mucocytes, the patient was diagnosed with a low- grade OMEC. In our second case, an 80-year-old female, FNA of a posterior left ear mass 1 year prior revealed a low- grade oncocytic proliferation. With the presence of a left parotid mass one year later, additional imaging was performed and showed increased T2 hyperintensity on MRI, which caused concern for the clinicians. A superficial limited parotidectomy was performed and a differential of oncocytoma versus oncocytic variant of mucoepidermoid carcinoma was rendered. Further tumor characterization with fluorescence in situ hybridization (FISH) demonstrated a MAML2 translocation which guided diagnosis of OMEC.

Conclusion
With approximately 30% of all malignant salivary gland tumors being constituted by mucoepidermoid carcinoma, the ability to accurately diagnose even this rare subtype, oncocytic mucoepidermoid carcinoma, is of significant importance and relevance to pathologists in many practice settings. Herein we demonstrate the utility of H&E morphology, immunohistochemistry, and MAML2 FISH in diagnosing OMEC in the setting of oncocytic salivary gland lesions. Future avenues, including tumor molecular profiling, will aid in elucidating clinicopathologic characteristics of this entity.
A Rare Case of Sinonasal Large Cell Neuroendocrine Carcinoma with Lymph Node Metastasis
Authors: Le P , Li S , Kovar J , Gonzalez Perez M 
Published: October 2024

Abstract

Introduction/Objective
Sinonasal carcinomas comprise less than 1% of cancers, and the most common types are squamous cell carcinoma at 51.6% and adenocarcinoma at 12.6%. There are only limited published reports of sinonasal large-cell neuroendocrine carcinoma (LCNEC). This entity has distinguishing immunohistochemical and histomorphologic features; it stains positively for neuroendocrine markers (i.e., synaptophysin and CD56) and histologically has abundant amphophilic cytoplasm with prominent nucleoli.

Methods/Case Report
We present a 60-year-old female patient who was evaluated for a submandibular neck lump. Computed tomography identified a 3.2 x 1.8 x 1.6 cm enhancing lesion with central necrosis in the right submandibular space, representing either an enlarged necrotic right submandibular lymph node or a neoplasm arising from the right submandibular gland. The pathology of the lymph node biopsy was consistent with metastatic high- grade neuroendocrine carcinoma. The neoplastic cells stained positively for INSM1, CK8/18, CK AE1/3 (subset), TTF- 1, and Ki-67 (50%).
Dotatate positron emission tomography showed evidence of focal activity in the right anterior nasal cavity supporting evidence with primary nasal cavity origin. Nasal endoscopy was performed, visualizing an area of necrotic friable tissue. Pathology confirmed the presence of large cell neuroendocrine carcinoma in the right nasal biopsies with metastatic LCNEC in right neck levels 1, 2A, 2B, 3, and 4. The malignant cells on hematoxylin and eosin stain had similar morphology to those in the initial lymph node biopsy, supporting a diagnosis of LCNEC.

Results (if a Case Study enter NA)
NA

Conclusion
Sinonasal large-cell neuroendocrine carcinomas are extremely rare. Upon literature search, there have been fewer than ten case reports published of this entity. Furthermore, large-cell neuroendocrine carcinoma behaves aggressively, and diagnosing this entity could result in earlier intervention and better patient outcomes. Highlighting the possibility of this diagnosis could broaden differentials in neoplasms that arise from the nose.
CRTC1::TRIM11-fusion tumor with rare sinonasal presentation and locally aggressive disease course
Authors: Bedeir A , Crymes A , Swanson M , Oberley M J , Evans M G 
Published: October 2024

Abstract

Introduction/Objective
Cutaneous melanocytic tumor with CRTC1::TRIM11 fusion (CMTCT) is a rare dermatological neoplasm that has not yet been formally recognized by the World Health Organization. At present, our knowledge of this disease is limited to single reports and a series 41 cases with limited follow-up information. It is typically described as a skin lesion expressing melanocytic makers, often leading to its misdiagnosis as melanoma or clear cell sarcoma. CMTCT is regarded as an indolent tumor with infrequent recurrence after complete surgical excision. However, we present a case with uncommon sinonasal presentation and metastasis after multiple resections.

Methods/Case Report
A 23-year-old woman presented with a right nasal vestibule mass, requiring partial rhinectomy in a foreign country, where she subsequently received chemoradiation. Her tumor at the time was diagnosed as a mucosal melanoma. Eleven years following initial presentation, she demonstrated a recurrent right nasal tumor, as well as neck mass, cervical lymphadenopathy, and lung nodules. The patient then underwent a nasal endoscopic resection and modified neck dissection, which demonstrated a high-grade neoplasm with intersecting fascicles of medium-to-large monomorphic cells; whole exome and whole transcriptome sequencing performed on the resected neck mass identified a pathogenic TERT c.-146C&gt;T alteration and CRTC1 exon 1::TRIM11 exon 2 fusion. The patient is currently alive and undergoing post-surgical chemoradiation.

Results (if a Case Study enter NA)
NA

Conclusion
This case expands our understanding of CMTCT and emphasizes its potentially aggressive behavior. The sinonasal presentation contrasts the tumor’s typical appearance on the skin and could mimic mucosal melanoma. Of note, our patient developed recurrent disease and distant metastases, thereby emphasizing the possible role of systemic therapy and suggesting that simple surgical excision may not be curative in all cases. Our case illustrates that CMTCT is an uncommon and potentially misidentified neoplasm, but that its proper diagnosis is essential for treatment selection and follow up.
Composite Lymphoma Comprising of BCL2 Rearrangement Negative, CD23 Positive Follicle Center Cell Lymphoma and Chronic Lymphocytic Leukemia/Small Lymphocytic Lymphoma: A Case Report
Authors: Palathingal Bava E , liu W , Shen Y , Fang X , Carey J , Gomez-Gelvez J C , Inamdar K , Ghosh S 
Published: October 2024

Abstract

Introduction/Objective
BCL2 rearrangement negative, CD23-positive follicle center cell lymphoma (BCL2 neg CD23 pos FCL) is a rare, recently described provisional entity in International Consensus Classification (2022). It has a predominantly diffuse growth pattern and often involves inguinal region. The molecular profile includes a high frequency of STAT6 and CREBBP co-mutation as well as 1q gain and a recurrent 1p36 loss/TNFRS14 abnormalities. We describe a composite tumor comprising of a rare entity BCL2 neg CD23 pos FCL and Chronic Lymphocytic Leukemia/Small Lymphocytic Lymphoma (CLL/SLL). To the best of our knowledge this is the first reported case description of this co-occurrence.

Methods/Case Report
A 59 y/o woman presented with right cervical and axillary lymphadenopathy (upto 1.6 cm). Sections showed partial effacement of nodal architecture by interfollicular and diffuse proliferation of atypical lymphoid cells. The interfollicular areas were comprised of a monotonous population of small lymphocytes.
Immunohistochemical stains performed showed that the interfollicular CD20+ PAX5+ atypical lymphoid cells coexpressed CD5, CD23, BCL2 and LEF1 and were negative for CD10, BCL6, CD3, and SOX11, with MIB1 of 5-10%. Based on these, a diagnosis of CLL/SLL was made.
Admixed with the CLL/SLL, a second neoplastic B-cell component that distorted nodal architecture was also identified. It composed of a diffuse proliferation of intermediate sized lymphoid cells with a centrocytic/centroblastic morphology. This smaller population of small to intermediate sized B cells expressed CD10, BCL6, and CD23 with a MIB1 proliferation index of ~30%. This population was CD5 and BCL2 negative. CD21 showed residual follicular dendritic cell meshworks. SOX11 and BCL1 were negative. Therefore, a diagnosis of BCL2 neg CD23 pos FCL was made.
Flow cytometry showed two distinct populations of monotypic B-cells, one CD5-positive and the other CD10-positive. FISH studies were negative for BCL2 and BCL6 rearrangements as well as del1p36. Cytogenetics was positive for trisomy 12, supporting CLL/SLL. Next Generation Sequencing showed Tier 1 / 2 mutations in STAT6, TNFRSF14, CREBBP, and FOXO1, supporting BCL2 neg CD23 pos FCL. Hence, this represents a unique case of composite CLL/SLL and BCL2 neg CD23 pos FCL. B cell gene rearrangement showed 2 distinct clones confirming 2 separate B cell lymphomas.

Results (if a Case Study enter NA)
NA

Conclusion
Here, we describe a composite CLL/SLL and BCL2 rearrangement negative, CD23 positive, FCL never previously described in literature.
Report of 3 Cases Diagnosed with Basal Cell Carcinoma and Systemic Mastocytosis with Favorable Prognosis
Authors: Zhou X , Shi C , Afolayan-Oloye O , Caponetti G 
Published: October 2024

Abstract

Introduction/Objective
The co-existence of basal cell carcinoma (BCC) and systemic mastocytosis is an exceptionally rare clinical occurrence, and the prognosis is not well-documented. Understanding the clinical and histopathological features of this uncommon association is relevant for accurate diagnosis, management, and prognostication.

Methods/Case Report
We conducted a retrospective analysis of three cases of BCC with concurrent systemic mastocytosis that were identified in the pathology database of the University of Pennsylvania from 2010 to 2023. Patient demographics, clinical and histopathologic characteristics, and treatment outcomes were reviewed.
Histopathologic assessment, immunohistochemistry, and C-KIT D816V mutation analysis (with an allele-specific PCR assay) were performed on biopsy material. Next-Generation Sequencing (NGS) was used to identify other hematologic neoplasm-associated mutations.

Results (if a Case Study enter NA)
All three cases were female with a median age of 55.3 years (50, 69, 47). In all three cases, atypical CD117+ tryptase+ CD25+ mast cells with mild to moderate pleomorphism were found in the dermis adjacent to the BCC cells. All three cases had bone marrow involvement. Serum tryptase levels were mildly elevated in all 3 patients (maximum 65.5 μg/L). All three cases harbor a C-KIT D816V mutation and a history of systemic glucocorticosteroids before the diagnosis of BCC. One of the cases was treated with phototherapy. NGS detected the following somatic mutations: Case #2 DNMT3A p.R882H c.2645G&gt;A; Case #3 JAK2 V617F. Case #1 had multiple relapses of BCC, but a subsequent marrow biopsy did not identify any involvement by mastocytosis.
Case #2 had mast cell leukemia, which typically has a poor prognosis; however, this patient has survived for several years. Case #3 had essential thrombocythemia and systemic mastocytosis with an associated hematological neoplasm, and her symptoms were stable. Treatment modalities for the three patients ranged from surgical excision to anti-mastocytosis therapy, with favorable outcomes (Table 1).

Conclusion
The coexistence of BCC with mastocytosis poses diagnostic challenges due to its infrequency and varied clinical presentations. Previous literature reports on treatments of mastocytosis such as phototherapy and steroids, which have been identified as risk factors for the development of basal cell carcinoma. However, recognizing this unique combination in clinical practice may aid in providing appropriate treatment strategies, ultimately leading to favorable patient outcomes.
Isolated intracranial myeloid sarcoma as an acute myeloid leukemia relapse: A case report
Authors: Rivera D , Ibrahim N , Iashvili L , Christie-Nguyen P , mai B 
Published: October 2024

Abstract

Introduction/Objective
Adequate assessment during intraoperative consultation on a patient with a brain mass is imperative to provide critical information that will direct the therapeutic approach during surgery.

Methods/Case Report
The patient is a 67-year-old female with acute myeloid leukemia (AML) on maintenance therapy and in remission for the past 2 years that developed altered mental status and seizures. Imaging revealed a diffuse intra-axial mass within the corpus callosum and right hypothalamic region. A brain stereotactic biopsy was performed. Blood work showed mild leukopenia (3.63x109/L), thrombocytopenia (platelet count of 82x109/L), and an essential normal hemoglobin level of 11.9 g/dL. A frozen section assessment during intraoperative consultation revealed an infiltration of small blue cells, suggesting a hematolymphoid process. Further histological assessment showed small to intermediate-sized monomorphic cells in sheets and around the vessels with open fine chromatin, prominent nuclei, and scant cytoplasm admixed with tingible body macrophages. Differential diagnoses included high- grade B-cell lymphoma, Burkitt lymphoma, mantle cell lymphoma blastoid variant, lymphoblastic lymphoma, and myeloid sarcoma (MS). The tumor cells were positive for CD34, CD43, and MPO (subset) and negative for CD20, PAX5, TdT, CD3, and AE1/AE3 by immunohistochemical staining, consistent with MS. Concurrent bone marrow biopsy with flow cytometric evaluation showed progressive trilineage hematopoiesis without evidence of residual leukemia.

Results (if a Case Study enter NA)
NA

Conclusion
Intracranial MS is extremely rare, and literature reviews are limited to primarily case reports. MS can occur before, during, or after the initial presentation of AML. Interestingly, this patient had an isolated intracranial myeloid sarcoma as an AML relapse without bone marrow involvement. We aim to increase the awareness of isolated recurrence of AML in the form of an intracranial MS; this disease warrants consideration in patients with a history of a myeloid neoplasm who present with neurological symptoms despite the absence of peripheral disease.
A Rare Case of Diffuse Large B Cell Lymphoma Co-occurring with Small Lymphocytic Leukemia: De Novo Process or Richter’s Syndrome?
Authors: Li X , Saksena A , Devi P 
Published: October 2024

Abstract

Introduction/Objective
Diffuse large B-cell lymphoma (DLBCL) is the most prevalent subtype of lymphoma and can arise either de novo or through transformation from indolent lymphomas, such as Chronic Lymphocytic Leukemia (CLL), known as Richter syndrome (RS). DLBCL derived from RS tends to exhibit more aggressive behavior compared to de novo DLBCL.

Methods/Case Report
We present a case of a 57-year-old female with no significant medical history, who initially presented with antibiotic and prednisone-resistant sinusitis, progressing to bilateral neck pain and eye congestion. Computed tomography (CT) imaging revealed a 3 cm mass in the right nasal cavity extending to the right maxillary sinus and medial right orbit. Histopathological examination showed diffuse sheets of intermediate to large cells with irregular nuclear contours, dispersed chromatin, variably conspicuous nucleoli, and moderate cytoplasm. Additionally, scattered foci of monotonous, atypical lymphoid cells with lower grade morphology, including small size and condensed chromatin, were also present. Immunohistochemical analysis revealed differential staining patterns between the two cell populations. The larger atypical cells expressed CD20, PAX5, CD10, BCL-6, MUM1, BCL-2, MYC, CD19 (dim), and exhibited a high Ki-67 proliferation index (&gt;80%). In contrast, the smaller atypical cells were positive for CD5, CD19, CD20, PAX5, BCL-2, and CD23 (subset), with a lower Ki-67 proliferation index (&lt;5%). Flow cytometry analysis of tissue samples revealed two distinct clones: Surface Kappa-restricted CD19 dim B cells (38.9%) with CD5- CD10 dim CD20+ and surface Lambda-restricted CD19+ B cells (58.7%) with CD5+ CD10- CD20+. FISH analysis revealed no gene rearrangements. The final diagnosis was Diffuse large B-cell lymphoma, germinal center B- cell phenotype, with aggressive features and focal involvement by small lymphocytic lymphoma/chronic lymphocytic leukemia.

Results (if a Case Study enter NA)
NA

Conclusion
The relationship between the large B-cell lymphoma and SLL/CLL remains uncertain; however, given the different immunophenotype and light chain expression observed by flow cytometry, they are likely to represent separate processes.
UTILITY OF AUTOMATED HEMATOLOGY ANALYZER IN THE DETECTION OF MALIGNANT CELLS IN SEROUS EFFUSIONS
Authors: Sekaran A 
Published: October 2024

Abstract

Introduction/Objective
Although microscopic examination is the gold standard for body fluid malignant cytology, it has a higher turnaround time and inter observed variability. Screening of serous effusions for malignant cells using haematology methods of automated analysis provides a rapid and objective result to the clinicians for initiating necessary treatment.
Automated haematology analysers are equipped with body fluid (BF) mode that can detect high fluorescence cells body fluid (HF-BF) cells, mononuclear and polymorphonuclear (PMN) cells using flowcytometry laser scatter principles. The high fluorescence parameters useful for identifying malignant cells in the effusions

Methods/Case Report
The study was performed between February 2023to Februart 2024 at AIG Hospitals, Hyderabad after obtaining approval from the medical ethics committee of thehospital. Body fluidswere collected in K2 EDTA vaccutainer. Simultaneous preparation of smears for microscopic examination and morphometry wasdone and the smears were stained using Romanowsky stain (Leishmann & Giemsa).
Cytospin smears were prepared by cyto- centrifugation (Sakura cyto- tix). The slides were stained by Hematoxylin and eosin, May Grunwald Giemsa (MGG) and Papanicolaou (PAP) stains for morphological differentiation and detection of malignant cells. Cell blocks were prepared after through mixing of the fluid using direct sedimentation method and the slides were stained by haematoxylin and eosin stain. IHC was performed where ever necessary.

Results (if a Case Study enter NA)
A total of 258 fluid samples comprising of 223 ascitic and 35 pleural fluids. Medical statistical software version 20.2 was used for statistical analysisof the results. Considering fluid cell block analysis as the gold standard the patient population was divided into 2 groups, malignant (8 samples) and non- malignant cell group(250 samples). Cytological examination of cytospins smears has shown to have the highest specificity, PPV and NPV in the detection of malignant effusions.

Conclusion
Our study shows that cytology and histopathological examination of body fluids remains the gold standard for the detection of malignant cells. The HF-BF parameter acts as a rapid, useful tool to predict the presence of malignant cells in serous effusions and select samples for microscopic reviewing that would have otherwise gone undiagnosed. We believe that with defining cut off values for the HF-BF parameter may be used as an adjunct diagnostic tool.