bluuebunny/crossref_metadata_2025_split huggingface dataset:
Does change in endometrial carcinoma FIGO staging (2018 to 2023) matters?
Authors: Jawaid T , Vidhun R 
Published: October 2024

Abstract

Introduction/Objective
Endometrial Carcinoma (EC) is the sixth most common diagnosed cancer in women. Cancer related to corpus uteri are often diagnosed after menopause. TNM classification and FIGO staging system is used for staging of EC. College of American Pathologists (CAP) has been using FIGO staging system 2018 until new FIGO staging 2023 was published on June 20th 2023. We aim to identify if the new 2023 FIGO staging will change the previously assigned staging as per 2018 FIGO staging system of the endometrial carcinoma and if this change will help the physician to reevaluate the patient management.

Methods/Case Report
This is a retrospective cohort study. Total 205 cases were recruited from June 2022 till October 2023 at Danbury Hospital. All the patients of 18 years and above were selected for the study and were treated with hysterectomy for endometrial carcinoma and were reported to have FIGO staging as per 2018 CAP cancer protocol. Sixty three (63) participants were selected for the study. Exclusion criteria includes the cases diagnosed as endometrial carcinoma on biopsy, curettage, and patients who did not follow up for treatment. The data search was done on variables required to evaluate the FIGO staging for 2018 and 2023.

Results (if a Case Study enter NA)
Out of 63 patients, 55 cases were reported as per FIGO stage 2018 and eight cases were evaluated on TNM classification only. The staging did not change for forty nine (49/63) cases. However, six cases (6/63) had a change in staging based on the criteria out of which four cases (4/6) had an upstage and two cases (2/6) had a downstage.

Conclusion
Staging has a critical role in management of the patient. The updated FIGO staging includes multiple variables (including molecular) to improve the patient care who are diagnosed with endometrial carcinoma. Identifying the appropriate updated staging can be beneficial for oncologist to decide the treatment recommendation in the future.
The Importance of Recognizing Vaginal Melanoma, A Unique and Aggressive Subtype of Mucosal Melanoma with Undefined Staging and Treatment Protocols: Case Report and Literature Review
Authors: Durkin V , Jassim A 
Published: October 2024

Abstract

Introduction/Objective
Primary vaginal melanoma is a highly aggressive subtype of mucosal melanoma, with few cases reported in the literature. Mucosal melanomas represent a very small subset of melanoma cases, with even fewer found in the vagina. There is a frequent delay in diagnosis due to absent or nonspecific symptoms.

Methods/Case Report
We report two cases of primary vaginal melanoma that were found on biopsy due to abnormal postmenopausal bleeding. Case 1 is a 62-year-old woman that was found to have a necrotic mass originating from the vaginal apex, while case 2 is a 66-year-old woman that had a vaginal polyp. Microscopic examination of both cases revealed sheets of malignant cells with prominent nucleoli, brisk mitotic activity, and patchy melanin pigment.
Immunohistochemical stains for MART-1 and SOX10 were positive in both cases, supporting the diagnosis. The patient in case 1 had an upper vaginectomy and is currently on immunotherapy as part of a clinical trial. Further treatment and status of the patient in case 2 is unknown.

Results (if a Case Study enter NA)
N/A

Conclusion
Due to the rarity of cases, little is known about the etiology and risk factors. A standardized staging system is not yet accepted, with most using a combination of the AJCC and FIGO systems, however, neither are specific for vaginal melanomas. Patients are often metastatic at the time of diagnosis due to delayed diagnosis and aggressive nature of the disease. Specific treatment protocols have not yet been defined, and it is debated whether a more conservative or aggressive approach is favored. The disease control and survival rates are dismal with a poor prognosis. The role of adjuvant and targeted molecular therapies is still being investigated. The addition of our cases to the literature will hopefully bring more awareness to vaginal melanoma as a diagnostic possibility and encourage more research to be done.
Institutional Review and Clinicopathologic Correlation of Head and Neck Sarcomas
Authors: Berger B , Rampisela D , Buras M , Clark D 
Published: October 2024

Abstract

Introduction/Objective
Head and neck sarcomas are challenging to diagnose and treat. Sarcomas in the head and neck region cause significant morbidity and mortality due to the vital structures affected. The rare nature of head and neck sarcomas also creates challenges in studying these entities.

Methods/Case Report
We performed a retrospective review of 40 cases of head and neck sarcomas at our institution from January 2000 to December 2023. Cases of metastatic sarcoma to the head and neck region were excluded. Skin and thyroid primary cases were also excluded.

Results (if a Case Study enter NA)
The initial age of diagnosis ranged from 2 years to 86 years with an average age of 39.2 years old. Thirteen pediatric patients were identified with the most common diagnosis being embryonal rhabdomyosarcoma and the most common location being the pharynx. The most common diagnosis among adult patients was chondrosarcoma with the most common location being the sinuses. Most patients presented at stage T2N0M0 and had an average survival of 4.4 years. Pediatric patients had a slightly greater average survival of 8.4 years. Adult patients had an average survival of 2.1 years.

Conclusion
Overall, head and neck sarcomas show poor prognosis and arise more commonly in the pharynx in pediatric patients and the sinuses in adult patients.
Features of Vacuoles, E1 enzyme, X-linked, autoinflammatory, and somatic mutation syndrome associated with the c.121A&gt;C, p.(Met41Leu) UBA1 genetic variant: A systematic review
Authors: Mumtaz M , Khan A E , Qureshi P M , Poombal F , Bauer L J , Noor R , Malik A , Khalid M , Kamran A 
Published: October 2024

Abstract

Introduction/Objective
Vacuoles, E1 enzyme, X-linked, autoinflammatory, and somatic mutation (VEXAS) syndrome was first described in 2020. VEXAS is driven by a mutation in the UBA1 gene on hematopoietic progenitor cells that encodes the E1 ubiquitin-activating protein. Loss of this protein leads to various inflammatory clinical presentations ranging from dermatological, pulmonary, rheumatologic and hematologic. Many UBA1 variants have been identified. We did a systematic review focusing on a particular UBA1 variant gene mutation underlying this disease process.

Methods/Case Report
Databases were searched for articles discussing VEXAS syndrome until April 2024. Only case reports and case series in the English language were included. Data on patient demographics, clinical presentation, laboratory values, bone marrow findings, dermatologic presentation and skin biopsy findings were extracted.

Results (if a Case Study enter NA)
332 articles discussing VEXAS syndrome were retrieved, of which 115 were case reports or case series. These were screened for patients carrying a p.Met41Leu UBA1 gene mutation and only the 25 patients with this genetic variant were ultimately included in our study. The average age was 68 years (59-81 years). 24/25 (96%) patients reported dermatologic symptoms ranging from erythema to urticarial eruptions to erythema multiforme. Fever was the second most common presenting complaint (76%) followed by arthritis (68%), chondritis (36%) and thromboembolic disease (28%). Macrocytic anemia was a common laboratory finding (65%). MDS was seen in 52% of the patients. All patients had hematopoietic progenitor cells with vacuoles. Sweet’s syndrome was the most common initial diagnosis (52%) as skin biopsies in most patients showed dermal edema and neutrophilic dermatoses/infiltration.

Conclusion
The c.121A&gt;C, p.(Met41Leu) UBA1 variant is frequently related to cutaneous manifestations. In patients with clinical features of an inflammatory disorder with dermatological and hematologic abnormalities, testing for the p.Met41Leu UBA1 mutation might lead to an earlier diagnosis and prompt initiation of effective treatment.
A Diagnostic Challenge in the Biopsy of a Mammographic Abnormality
Authors: Pham T , Rao R , Vo T 
Published: October 2024

Abstract

Introduction/Objective
Primary breast marginal zone lymphoma (MZL) is an uncommon subtype of extranodal lymphoma, and its diagnosis presents challenges, particularly in distinguishing it from lymphoplasmacytic lymphoma (LPL). MYD88 L265P mutation has been identified in a subset of marginal zone lymphomas, comprising 6-9% of cases. This genetic alteration further complicates the differentiation between MZL and LPL in breast tumors. We present a case highlighting the diagnostic complexities associated with primary breast MZL.

Methods/Case Report
A 71-year-old female patient underwent mammographic screening, which revealed a suspicious lesion in her left breast. Subsequent PET scan showed a hypermetabolic area consistent with a primary breast lesion. Biopsy histology exhibited a diffuse atypical lymphoid infiltration with varying proportions of neoplastic lymphocytes. Immunohistochemical analysis revealed positivity for CD20, PAX5, BCL2, CD138, MUM1, and negativity for CD3, CD5, Cyclin D1, CD10, CD23, CD34, BCL6, TDT, CD30, GATA3, and CK AE1/3. Additionally, there was lambda light chain restriction, and the Ki67 proliferation rate index was approximately 50%. Fish analysis indicated abnormal BCL6 gene rearrangement. Molecular genetic testing confirmed the presence of MYD88 mutation with c.794T&gt;C p.L265P. Notably, bone marrow biopsy showed no abnormalities, with normal hematopoiesis. Serum electrophoresis and immunofixation detected an IgM monoclonal protein with lambda light chain specificity.

Results (if a Case Study enter NA)
NA

Conclusion
The diagnosis of primary breast MZL was favored over LPL due to the absence of common LPL- associated symptoms such as bone marrow involvement. However, the distinction between these entities remains challenging, underscoring the importance of comprehensive diagnostic approaches integrating histopathology, immunohistochemistry, and molecular genetics. Further research is warranted to enhance diagnostic certainty in such cases, particularly as the management of MZL and LPL becomes increasingly specific with the advent of novel therapeutic agents and ongoing clinical trials.
CD5+ Large B cell lymphoma with IRF4 rearrangement: case report and review of the literature
Authors: Torres Y , Shen P 
Published: October 2024

Abstract

Introduction/Objective
Large B cell lymphoma with IRF4 rearrangement was introduced as a diagnosis by WHO in 2017. It is a rare entity that affects Waldeyer’s ring in mostly males, children and young adults. The lesional immunophenotype may be positive for CD10. FISH is positive for IRF4 rearrangement on chromosome 6p25.Among reported cases in the English literature only 6 cases have reported specifically CD5 being negative. We present review of the literature during years 2020-2024, and a case of large B cell lymphoma with IRF4 rearrangement, specifically positive for CD5.

Methods/Case Report
The patient is a 5 years old male, since 2017 suffering from recurring ear infections with approximately 4-5 episodes of otitis media during every 6 months. In 2019 the patient’s mother reported snoring, constant sore throat, bad breath for 2 years. On physical examination the left tonsil appeared enlarged; exudative tonsillitis was present. Later on, an asymmetric, firm mass in the location of the left tonsil with induration of the left palate was identified. CT scan showed mild asymmetric soft tissue thickening of the left aspect of the soft palate and left palatine tonsil. Mildly prominent left-sided levels IIa and IIb lymph nodes, measuring up to 1 cm were identified. H&E sections revealed an expansile proliferation of neoplastic cells, large with void to indented nuclei, vesicular chromatin, small nucleoli, visible cytoplasms. Frequent mitoses, apoptosis and individual cell necrosis were seen.
Immunohistochemistry revealed CD20+ B cell neoplasm with high expression for MUM1 and high proliferation rate along with strong CD5+ and CD10-. By multicolor flow cytometric studies, an abnormal B cell population was found (40%) with increased forward scatter along with expression for CD5, CD19, CD20, CD22, CD45, CD79a (cytoplasmic), FMC7, (dim) lambda-restriction. Fluorescence In Situ Hybridization Study revealed IRF4 (DUSP22) rearrangement on chromosome 6p25.

Results (if a Case Study enter NA)
NA

Conclusion
We analyzed 24 cases reported in the English literature. The mean age of the patients is 7 years old. The majority are males (14/24 = 58%).The most common location is tonsil/ neck mass (15/24 = 62%).CD5 was negative in 6/24 cases.
Hemophagocytic Lymphohistiocytosis as an Unusual Presentation in a Patient with Human Immunodeficiency Virus-associated Bone Marrow Classic Hodgkin Lymphoma: A Case Report with Literature Review
Authors: Rivera Sustache J M , Jetly R 
Published: October 2024

Abstract

Introduction/Objective
Compared to the general population, people living with human immunodeficiency virus (HIV) have a higher incidence of lymphoproliferative disorders including classic Hodgkin lymphoma (CHL). Hemophagocytic lymphohistiocytosis (HLH) triggers in HIV patients include HIV itself and HIV-associated malignancies or infections, all of which can have many overlapping symptoms, causing diagnostic challenges and delays in initiating treatments.

Methods/Case Report
A 56-year-old HIV-positive man presented with septic shock-like symptoms, pancytopenia, hyperferritinemia, transaminitis, elevated IL2-receptor alpha and hepatomegaly. Mild retroperitoneal lymphadenopathy found on imaging yielded non-diagnostic biopsies. A bone marrow (BM) biopsy showed no malignancy or disseminated infections and a rare hemophagocyte. Treatment for HIV-triggered HLH lead to a marked clinical improvement. Three months later he presented with worsening symptoms, negative cultures, and an EBV+ CHL on a BM biopsy. Mild increase in lymphadenopathy and multiple liver/spleen hypodensities found on imaging could not be biopsied due to rapidly deteriorating patient’s condition and death.

Results (if a Case Study enter NA)
NA

Conclusion
Per studies, HLH is more frequent in the HIV-associated lymphomas compared to the non-HIV- associated ones, usually presenting as a sepsis-like syndrome in these patients. Probability of HLH development was particularly high with BM involvement and CHL. From 2010, seven cases of HIV-associated CHL presenting with HLH were found in the literature with these findings: (n=8, including ours) sex- all males; average age- 45 years (range 28- 64); average HIV viral loads- 83,369 copies/mL (range: undetectable-&gt;300,000); average absolute CD4 count- 98 cells/microliter (range: 8-314); interval from HIV diagnosis- new to 26 years; anti-retroviral treatment- 6; symptoms- fever (all), other symptoms were variable; HLH-2004 protocol criteria- all; biopsy-proven hemophagocytes- 3; EBV+ CHL- all (6 were diagnosed on BM biopsies); outcomes- remission (2), response to treatment (4), death (2). CHL- triggered HLH in HIV patients is a complex diagnostic entity. A high index of suspicion and thorough investigations including early BM biopsies can ensure better outcomes.
A Case of Idiopathic Multicentric Castleman Disease Developing in a Patient with a History of Biopsy Proven Membranous Nephropathy
Authors: Chinchanikar S , Lankachandra K , Galbraith R 
Published: October 2024

Abstract

Introduction/Objective
Idiopathic multicentric Castleman disease (iMCD) is a lymphoproliferative disorder involving two or more lymph node sites. It is usually associated with systemic inflammatory symptoms and organ dysfunction related to hypercytokinemia. Renal involvement in iMCD has only been described in a limited number of studies and case reports. Of note, only one previous case report has described results from renal biopsies taken prior to the development of iMCD.

Methods/Case Report
Our patient is a 43 year old female who was first diagnosed with membranous nephropathy in early 2020. She had PLA2 R negative and Exostosin-2 positive disease. Age appropriate screening for malignancy was unremarkable. She had positive ANA titres and normal complement levels but did not meet criteria for SLE per rheumatology. Her proteinuria was improved and maintained on Lisinopril for 3 years. In October 2023, her proteinuria suddenly increased. Repeat renal biopsy was unchanged from the initial biopsy. This time, she also noticed acute swelling over her subpectoral region. PET-CT scan revealed multiple areas of avid lymphadenopathy on either sides of the diaphragm but the highest yield PET- avidity was in the subpectoral region. Biopsy of the right subpectoral lymph node was performed. According to the WHO Classification, 5th edition, diagnostic criteria for iMCD-NOS was met with the histological features displaying grade 3 plasmacytosis, grade 2 regressed germinal centers, follicular dendritic cell prominence, increased hyperplastic follicles and increased vascularity. Immunohistochemical staining for CD138 highlighted abundant plasma cells, CD21 highlighted follicular dendritic cell prominence. Vascular proliferation was seen by CD34 staining. Kappa and Lambda- ISH demonstrated polytypic staining pattern and HHV-8 was negative.

Results (if a Case Study enter NA)
NA

Conclusion
There is a significant clinical, histologic and immunologic overlap between iMCD, autoimmune or infectious disorders and malignancy. HHV-8 negative/iMCD is less well understood and has no specific biomarkers. It is important to follow the available clinicopathologic diagnostic criteria for early diagnosis, follow up and treatment.
Timely recognition can help prevent multiple organ system dysfunction, systemic inflammatory symptoms, cytopenias and polyclonal lymphoproliferation. Although the pathophysiology maybe unclear, this case may also suggest that in patients with a previously diagnosed membranous nephropathy, iMCD may play a role in recurrence and worsening of the disease.
Biological Adaptations in Rhabdomyosarcoma Tumor Cells in lymph nodes: A Case Report of RMS with FUS::TFCP2 translocation
Authors: Zhou X , Feng Y , Husson M 
Published: October 2024

Abstract

Introduction/Objective
The WHO classification categorizes Rhabdomyosarcoma (RMS) into four main subtypes based on clinicopathological and molecular features. However, TFCP2-rearranged RMS, a rare tumor, does not neatly fit into any of these subtypes. Literature review identified only two reported cases of RMS with FUS::TFCP2 fusion and a round cell component.

Methods/Case Report
We present a rare case of RMS in lymph nodes with FUS::TFCP2 translocation in a 29-year- old female with a history of spindle cell rhabdomyosarcoma in the bilateral maxilla. The original tumor exhibited a distinctive spindle and epithelioid phenotype, coexpressing myogenic markers, epithelial markers, and ALK. FUS::TFCP2 translocation was confirmed, representing an uncommon subset of RMS. After chemotherapy, radiation, and surgery, the patient developed multiple bilateral pathologically enlarged cervical lymph nodes. Excision revealed metastatic rhabdomyosarcoma involving lymph nodes with a predominantly round cell and epithelioid morphology, with approximately 5% spindle cell growth, resembling the pattern identified in the primary resection.

Results (if a Case Study enter NA)
NA

Conclusion
Previous reports suggest that RMS with FUS::TFCP2 fusion displays a biphasic pattern, comprising solid proliferation of round cells in superficial areas and spindle cells in deeper regions. The altered cell morphology observed in our case may be attributed to the varied distribution pattern of each component with lesion depth and the cellular stress response. Previous literature reported that radiation stress potentially leads to biological adaptations of tumor cells and tumor radioresistance. Our findings underscore the distinctive phenotype of RMS with FUS::TFCP2 fusion, characterized by the coexpression of myogenic and epithelial markers, along with ALK positivity.
Understanding the cellular adaptations of RMS cells could inform the development of novel clinical interventions aimed at enhancing radiosensitization and improving therapeutic efficacy, ultimately enhancing patient survival.
Primary Cutaneous Acral-type CD8-positive T-cell Lymphoproliferations: Widely Divergent Clinical Outcomes Despite Nearly Identical Histomorphology
Authors: George G V , Scott G , Syposs C R , Evans A G , Casulo C 
Published: October 2024

Abstract

Introduction/Objective
Non-epidermotropic and acral CD8(+) T-cell proliferations have recently been reclassified as lymphoproliferative disorders (LPDs) due to their indolent course clinical. Here, we describe two cases with similar histomorphology but disparate clinical outcomes, highlighting the diagnostic challenges.

Methods/Case Report
Case 1: An 89-year-old male developed a 2 cm erythematous papule on the forehead. Biopsy showed a non-epidermotropic pan-dermal lymphocytic infiltrate, a distinct grenz zone, and areas of necrosis.
Case 2: A 53-year-old male presented with a rapidly growing, ulcerating 8.9 cm scalp lesion. Biopsy showed a deep dermal lymphoid infiltrate with complete epidermal sparing. In both cases neoplastic cells were positive by immunohistochemistry for CD2, CD3, CD5, CD7 (partial), CD8, granzyme B, TIA-1, and CD68 (perinuclear dot-like pattern). The Ki-67 proliferation index varied modestly between cases (50% in case 1 and 70% in case 2, respectively). Despite treatment, within the span of a few months, case 2 developed adjacent, widely distributed scalp nodules with extensive local tissue destruction. Pathology was consistent with recurrent disease (flow cytometry demonstrating T-cells, co-expressing CD8, CD2, CD3, CD5, CD7 and monotypic TRBC1).

Results (if a Case Study enter NA)
NA

Conclusion
CD8+ T-cell lymphoproliferative disorders, specifically primary cutaneous acral CD8+ T-cell lymphoproliferative disorder, is a rare cutaneous T-cell disorder that was re-classified, owing to its indolent clinical course, low risk of systemic dissemination, and favorable prognosis. We report two cases of nearly identical isolated cutaneous lesions that demonstrated a CD8(+)-cytotoxic phenotype with CD68-dot-like positivity. Although all morphologic findings were supportive of the diagnosis, the aggressive clinical progression in case 2 highlights the potential for the disease to defy the classically described indolent behavior. Given that few cases with aggressive clinical courses have been published, we present these cases to underscore their complexity and propose that the classification incorporate clinicopathological correlation to guide management.