bluuebunny/crossref_metadata_2025_split huggingface dataset:
Ossifying Fibroma; A Case report and review of literature
Authors: Luceno S , Lazim A , Kuklani R , Jhala N 
Published: October 2021

Abstract

Introduction/Objective
Ossifying fibroma (OF) is a rare, benign, true neoplasm with growth potential, with the mandible involved more often than the maxilla. There is female predilection in the third and fourth decades of life, with the most common site being the premolar and molar area of the mandible. These lesions are characterized by the replacement of endogenous bone with a highly cellular fibrous neoplasm containing varied amounts of bony trabeculae, and/or cementum-like spherules. Radiographically they present as well defined, unilocular, most are mixed lucent, opaque, some with sclerotic border and root divergence may be seen. Histologically most of the lesions are not encapsulated but are well demarcated from the adjacent bone. Thus radiographic, surgical and histological findings help distinguish OF from other benign fibro-osseous lesions such as fibrous dysplasia and cemento-osseous dysplasia. Distinguishing an accurate diagnosis between the above fibro-osseous neoplasms becomes significant as prognosis and treatment differ.

Methods/Case Report
Herein we report a case of a 59-year-old female who presented with a symptomatic mandibular lesion that radiographically illustrated a midline well-circumscribed expansile mass of the mandibular symphysis with a sclerotic margin and ground-glass internal matrix measuring 3.1 x 4.9 x 3.9 cm, favored to represent pagetoid changes more likely than neoplastic process. Microscopic examination revealed numerous variably sized islands of ossification within a hypercellular fibrous stroma. Based on the clinical, radiographic and histologic findings, a diagnosis of benign fibro-osseous lesion, favor ossifying fibroma was given.

Results (if a Case Study enter NA)
NA

Conclusion
Microscopic examination, as in our case, can resemble a variety of benign fibro-osseous neoplasms. Radiographic and clinical correlation, along with microscopic evaluation, help solidify the accurate diagnosis.
Amyloid deposition in oral cavity and larynx, a single institute experience
Authors: Abu-Salah A K , Hou T 
Published: October 2021

Abstract

Introduction/Objective
Amyloidosis is characterized by extracellular accumulation of insoluble amyloid fibril. Amyloid deposition in the head and neck area is rare.

Methods/Case Report
In this study, we reviewed 34 specimens from 26 patients including: 18 specimens from the larynx and/or pharynx (13 patients) and 16 specimens from the oral cavity (13 patients). The clinical presentation, related laboratory results, and pathologic finding were reviewed.

Results (if a Case Study enter NA)
Within the 18 laryngeal specimens were: 10 glottic, 4 supraglottic, 3 nasopharyngeal or pharyngeal wall, and 1 subglottic. Of the 16 cases from oral cavity there were 9 lingual, 3 labial, 2 palatine, 1 tonsillar, and 1 alveolar ridge. Ten out of 13 patients with laryngeal amyloid deposition had protein electrophoresis performed and only 3 of the patients had monoclonal light chain detected. Among these three patients, one had multiple myeloma, one had lymphoplasmacytic lymphoma and one had the diagnosis of plasma cell dyscrasia. Interestingly, in the patients with oral cavity amyloidosis, 10 out of 11 patients tested had abnormal findings. Six of the patients had monoclonal light chain, two demonstrated monoclonal peak of IgG kappa, one with IgG lambda and one with IgA lambda. Among these 10 patients, 6 of them had biopsy-proved or history of multiple myeloma, one patient had marginal zone lymphoma, two patients had systematic amyloidosis. Only one patient did not have any malignancy or systematic involvement identified.

Conclusion
In our small cohort, the most common location of amyloid deposition in the larynx is glottis. When it involves the oral cavity, tongue is the most common location. Compared to the larynx, amyloid deposition in the oral cavity tends to be associated with hematopoietic malignancy or systematic involvement, although this finding needs to be confirmed by a larger scale of study.
Clinical, Pathological, and Genomic profiles of Salivary Warthin tumor-like Mucoepidermoid Carcinoma
Authors: Li B 
Published: October 2021

Abstract

Introduction/Objective
Warthin tumor-like mucoepidermoid carcinoma(WTL- MEC) is one of the subvariant of mucoepidermoid carcinoma. It mimics the histological features of metaplastic Warthin tumors (mWTs). To investigate the clinicopathological, molecular features, and bio-behaviors of WTL-MEC, we retrospected a cohort of 29 WTL- MEC patients.

Methods/Case Report
The clinicopathological and microscopic data were collected. Dual-color FISH analysis was performed on paraffin-embedded sections of 29 WTL- MEC patients and 16 mWTs patients using a MAML2 break- apart probe. Whole-exome sequencing and whole transcription sequencing were performed on 3 WTL-MEC and 3 typical mucoepidermoid carcinomas (TMEC) patients. Genetic data were bioinformatically analyzed by software MuTect (v1.7), PINDEL (v0.2.5), SnpEff (v3.0), and etc.

Results (if a Case Study enter NA)
The cohort of WTL-MEC included 10 male and 19 female patients with a median age of 42.3 years (range, 8 to 68 years). Microscopically, the WTL-MEC lesion consisted of multi-cysts with variant shapes and sizes. The cystic spaces were lined by bi-layered and multilayered oncocytic cells. A transition zone between the bi-layered oncocytic epithelium to the multilayered oncocytic epithelium was observed in WTL-MEC. The cords of epidermoid cells and mucous cells could be found. The germinal center, extensive hyalinization, and mucus extravasation were observed. MAML2 rearrangement was identified in 29 (100%) WTL-MEC. No rearrangement was observed in mWTs by FISH. MET was the most commonly mutated gene in TMEC, and PRDM11 was the most commonly mutated gene in WTL-MEC. Twenty-nine patients were alive without recurrent at the end of the follow-up periods(5–128M). One Patient died due to the metastasis to the lung.

Conclusion
compared with mWTs, WTL- MEC usually presented in the young, non-smoking female. The histological feature of WTL-MEC depended mainly on the transition zone of the bi-layered oncocytic epithelium and the multilayered oncocytic epithelium. And MAML2 status can confirm the diagnosis. CRTC1-MAML2 and PRDM11 mutations appear to be the main driver event of WTL-MEC. Prognosis was usually favorable, but recurrence or metastasis may rarely occur.
Choroidal Ganglioneuroma: An Unexpected Diagnosis
Authors: Srivastava A C , Shenoy V 
Published: October 2021

Abstract

Introduction/Objective
Ganglioneuromas are rare, fully differentiated, benign neuronal tumors arising from neural crest cells anywhere along the sympathetic nervous system. However, they can undergo dedifferentiation and give rise to malignant neuroblastoma and ganglioneuroblastoma. Choroidal ganglioneuroma is exceptionally rare and usually an unexpected histopathological diagnosis. We report a pediatric patient with neurofibromatosis type 1, who underwent evisceration of a painful blind eye with subsequent histopathological examination confirming a diagnosis of choroidal ganglioneuroma.

Methods/Case Report
A 15-year-old boy with a medical history of neurofibromatosis type 1, plexiform neurofibroma of the right face and right orbit, right optic pathway glioma, and right painful blind eye secondary to congenital glaucoma underwent evisceration of the right eye with placement of orbital implant. On histopathological examination a choroidal lesion was identified adjacent to the pigmented retinal epithelium. This lesion showed proliferation of spindle-shaped cells admixed with clusters of ganglion cells. There were no signs of atypia, necrosis, or pleomorphism. The ganglion cells showed abundant cytoplasm with large vesicular nucleus and prominent nucleoli. The spindle cells were positive for S-100 immunostain and the ganglion cells were positive for synaptophysin. These findings were diagnostic of choroidal ganglioneuroma.

Results (if a Case Study enter NA)
NA

Conclusion
Choroidal ganglioneuroma, in addition to being a clinically unsuspected diagnosis, is exceptionally rare in patients with neurofibromatosis type 1. Medical literature on choroidal ganglioneuroma is sparse, however, it is reported that these benign tumors can locally recur with malignant transformation, and therefore close follow-up is advised.
Sclerosing Epithelioid Fibrosarcoma; A Case report and review of literature
Authors: Lazim A , Kuklani R 
Published: October 2021

Abstract

Introduction/Objective
Sclerosing Epithelioid Fibrosarcoma (SEF) is an unusual, rare clinically aggressive form of soft tissue sarcoma. It is characterized by a slow evolution, with local recurrences and late metastases that are mainly pulmonary and pleural in about 80% of cases. SEF has distinctive morphology and occurs most commonly in deep soft tissue of adult extremities. Lesions involving the head and neck region are uncommon and rare intraosseously in oral cavity.

Methods/Case Report
Herein we report a case of a 52-year-old male who presented with a symptomatic radiolucent lesion at apex #18, with clinical impression of periapical granuloma. The patient did present with pain associated with lower left quadrant #18 area, for several days to pressure and hot temperature. A periapical radiograph revealed a large ill-defined radiolucent area at apex of resorbing roots #18. The patient’s medical history was significant with history of cancer diagnosis of sclerosing epithelioid fibrosarcoma of skull treated by chemotherapy and radiation. Microscopic examination of the specimen revealed a multi-fragmented specimen consisting of numerous fragments and islands of highly cellular, basophilic bone and osteoid surrounded by loose fibrous stroma which contains large lobules and islands of round to oval cells, with distinct cell borders and faintly granular eosinophilic cytoplasm. Separate islands of tumor cells surround large islands of necrosis with the background stroma appearing as hyalinized and eosinophilic with the basaloid cells demonstrating smudge and crush artifact. Peripherally, spindled cells are noted and faint areas of eosinophilic osteoid within the eosinophilic background stroma. Lesional cells are MUC4 strong, diffusely positive and strongly positive for INI-1. CD43, CD20, PAX-5, CD3, Desmin, CD34, S100, CD99, AE1/3 and SMA are interpreted to be negative. A diagnosis of metastatic sclerosing epithelioid fibrosarcoma was made, with correlation with the primary lesion was recommended.

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

Conclusion
The clinical and histological findings of our case correlate with the diagnostic criteria of sclerosing epithelioid fibrosarcoma. Despite its microscopic features can create diagnostic difficulties, in that SEF can resemble a variety of benign and pseudosarcomatous as well as malignant lesions, our case diagnosis was confirmed by morphology and MUC4 diffuse strong reactivity and negativity for other markers.
NUT Midline Carcinoma Mimics Anaplastic Thyroid Carcinoma
Authors: Chang Q , Li J , Tang S 
Published: October 2021

Abstract

Introduction/Objective
NUT carcinoma (NC) is an extremely rare, aggressive subtype of squamous cell carcinoma defined by rearrangement of the NUTM1 (aka NUT) gene. NC most commonly arises within the thorax and head and neck and predominantly affects teens and young adults. For the first time, we described a rare case of NC mimics anaplastic thyroid carcinoma.

Methods/Case Report
A 27-year female with no significant past medical history presented with neck pain and swelling for a few months and was noted to have a “thyroid” mass. An ultrasound guided fine needle aspiration of the mass showed a hypercellular specimen composed of highly atypical epithelial cells with irregular nuclear membrane and prominent nucleolus, high nuclear to cytoplasmic ration, dense cytoplasm, lying singly or in flat sheet mixed with acute inflammatory exudate (Fig. A, B). No thyroid follicular cells or colloid are present. It was signed out as suspicious for squamous cell carcinoma since there was no cell block for further workup. A following excisional biopsy demonstrated similar atypical epithelium detached or embedded in skeletal muscle and soft tissue with acute, chronic inflammation and necrosis (Fig C). By immunohistochemical stains, the atypical cells are positive for p40 (Fig D) and p53. The Ki-67 proliferation index is ranging from 40 % to 70 %. Scattered tumor cells are weakly positive for PAX-8 and TTF-1. These findings raise the possibility that the squamous cell carcinoma might be a component of anaplastic thyroid carcinoma. However, molecular studies revealed a NSD3-NUTM1 fusion, which is characteristically identified in a subtype of squamous cell carcinoma know as NUT “midline” carcinoma.

Results (if a Case Study enter NA)
NA

Conclusion
Diagnosis of NC can be established by positive NUT nuclear immunohistochemical staining. Recognizing the typical morphology and keeping low threshold for the NUT immunohistochemical staining will increase the diagnostic efficacy.
Multifocal Primary Central Nervous System (CNS) Diffuse Large B-Cell Lymphoma (DLBCL) in a Patient with Aquired Immunodeficiency Syndrome (AIDS)
Authors: Khokhar H , Wang K , Luis D 
Published: October 2021

Abstract

Introduction/Objective
Primary CNS DLBCL is a rare entity, with an incidence of less than 0.47 per 100,000, however, in immunocompromised patients, especially those with Human Immunodeficiency Virus (HIV-1) infection, the incidence increases dramatically to 2-6 percent. Here we present a case of multifocal DLBCL in a young 28-year-old homeless male with untreated AIDS and polysubstance abuse.

Methods/Case Report
He presented to the hospital with altered state of consciousness; a Computerized Tomography (CT) scan showed three ring-enhancing masses; one in the left fronto-temporal region, the largest in the left basal ganglia and the third in the cerebellum. The main lesion was biopsied and diagnosed as DLBCL. The patient developed aspiration pneumonia and demised from respiratory failure

Results (if a Case Study enter NA)
NA

Conclusion
Coronal sections of the brain revealed a large grey-tan, soft lesion of poorly defined, irregular borders located in the left basal ganglia that measured 5 x 4 x 4 cm, extended dorsally and laterally. A similar lesion was observed in the deep left cerebral hemisphere, affecting the temporal lobe and extending rostrally into the frontal lobe, but completely separate from the tumor in the basal ganglia. A third, much smaller lesion was found in the right cerebellar hemisphere. Histologically, the tumor was composed of sheets of atypical lymphoid cells with increased nuclear to cytoplasmic ratio, increased mitotic activity, and showed scattered areas of necrosis. In the peripheral areas, tumor cells were located in the Virchow Robin space, and in more central areas they have broken into the brain parenchyma. Tumor cells were positive for CD20 and CD79a, indicating their B-cell origin. Other markers positive by immunohistochemistry were PAX5, MUM1 and BCL6 and the Epstein-Barr Virus (EBV) latent membrane protein (LMP). Fluorescence In situ hybridization (FISH) corroborated the presence of Eptein-Barr encoded RNAs.
Report of Two Cases of ALK-Positive Histiocytosis in Young Children with Localized Lesions
Authors: Coffman B B , Dubyk F C , Chabot-Richards D , Rollins-Raval M A , Foucar K K , Babu D 
Published: October 2021

Abstract

Introduction/Objective
ALK-positive histiocytosis is a recently described entity which occurs in both children and adults and can present with localized or disseminated disease. Limited case reports and series describe histiocytic infiltrates with irregular morphologic features and typical immunoreactivity for CD68, CD163, lysozyme, S100(variable), CD4, and cytoplasmic ALK. ALK rearrangements are often confirmed by FISH or molecular sequencing. The presence of such rearrangements may make ALK inhibitor therapy possible, although further investigation is necessary. We report two cases of ALK-positive histiocytosis diagnosed at our institution.

Methods/Case Report
Patient 1 is a 4-year-old girl with a prior history of high-risk neuroblastoma status-post resection, bone marrow transplant, radiation, and chemotherapy. An MRI performed due to neurologic symptoms revealed a left frontal-enhancing mass. With concern for metastatic neuroblastoma, a biopsy was performed, which showed brain parenchyma infiltrated by large atypical histiocytes with moderate eosinophilic cytoplasm and irregular folded nuclei. The histiocytes stained positive for CD68, lysozyme, Factor XIIIa, CD163, CD4, S100(variable), and cytoplasmic ALK. An ALK rearrangement was confirmed by FISH studies. The patient is reportedly doing well on therapy.
Patient 2 is a previously healthy 2-year-old boy with a midline palate lesion. An incisional biopsy revealed a submucosal infiltrate of small lymphocytes and enlarged atypical histiocytes with abundant eosinophilic cytoplasm and vesicular folded nuclei. Histiocytes stained positive for CD68, CD163, Factor XIIIa, lysozyme, S100(variable), CD4, and cytoplasmic ALK. Given presence of an ALK rearrangement detected by FISH, the patient was started on single agent crizotinib therapy and has responded with near complete resolution.

Results (if a Case Study enter NA)
NA

Conclusion
ALK-positive histiocytosis is a clinicopathologically distinct entity with predilection for young children and presence of ALK rearrangements which may be amenable to ALK inhibitors, such as crizonitib. We report two additional cases to contribute to the expanding spectrum of this rare and relatively new entity.
Clinicopathologic characteristics of myeloid neoplasms that harbor both a DDX41 germline and an acquired DDX41 genetic alteration
Authors: Reichard K , He R , Viswanatha D 
Published: October 2021

Abstract

Introduction/Objective
Myeloid neoplasms associated with DDX41 germline genetic alterations are becoming increasingly recognized as a unique subset of hematologic cancer predisposition syndromes. As such, we sought to review their clinicopathologic characteristics.

Methods/Case Report
We searched our next-generation sequencing database for cases with two DDX41 variants; one variant at heterozygous variant allele fraction (VAF) indicating known or putative germline status, and second variant at low VAF consistent with an acquired subclone. We reviewed the clinicopathologic features.

Results (if a Case Study enter NA)
We identified 18 cases - male:female ratio 2.6:1, average age at presentation, 69 years (range 57-89). The diagnoses included no diagnostic abnormality (3), MDS-MLD (1), MDS-EB1 (1), increased blasts only(5-19%) (7), and AML (6). All had anemia [average hemoglobin (10.2) (range 6.5-12.9 g/dL)], 17/18 with thrombocytopenia [average 87 (range 22-222 K)], 17/18 with neutropenia [average absolute neutrophil count (ANC) (819) (range 90-1800)] and 13/18 with macrocytosis [average (101.5) (range 83.7-114 fL)]. Bone marrow cellularity (corrected for increased blasts &gt;20%) was predominantly hypocellular (11/19) followed by normocellular (5/19). 3/19 cases showed erythroid dysplasia; no cases demonstrated granulocytic dysplasia; 7/19 cases showed megakaryocytic dysplasia. Of non-AML cases, 8/12 cases showed increased blasts [average 10% (range 5-19%)]. Of 4 cases without an increase in blasts, 1 showed MDS, 2 no dysplasia [1 -ANC of 666 and preserved platelets (222); 2- thrombocytopenia with preserved ANC (1800)] and 1 had slight megakaryocytic atypia. 16/17 cases were karyotypically normal. 14/18 of the patients are alive (median follow-up, 48) (8-125 months).

Conclusion
This cohort finds that myeloid neoplasms arising from DDX41 germline predisposition syndrome tend to present in older individuals, have infrequent dysplasia and are associated with a prolonged clinical course despite elevated blast counts at diagnosis. Recognition of these disorders is challenging and DDX41 testing should be included as part of genetic profiling. The presence of a suspected DDX41 germline variant may prompt confirmatory and familial testing, particularly in the event a hematopoietic transplant is a treatment option.
A rare case of post COVID-19 hemophagocytic lymphohistiocytosis in a pediatric patient
Authors: Rjoop A , Barukba M , Al Rusan O 
Published: October 2021

Abstract

Introduction/Objective
Hemophagocytic Syndromes are a cluster of disorders related to cytotoxic dysfunction of T/NK-cells and are mainly subdivided into Primary (familial) and Secondary (acquired) forms, with the latter usually linked to patients with viral infections; including EBV, CMV among many others. A myriad of other causes have been associated with hemophagocytic lymphohistiocytosis (HLH), most notably systemic inflammatory conditions; especially Juvenile Rheumatoid Arthritis and hematolymphoid malignancies particularly T/NK-cell lymphomas.

Methods/Case Report
A previously healthy 7-year-old boy, presented to the ER with fever and a skin rash over both lower limbs of 1 week duration. Two weeks prior he was tested for COVID-19 and was found to be positive. Physical examination further revealed slightly palpable liver and spleen. CBC was done and exhibited pancytopenia, further testing showed elevated LDH, hyperferritinemia and hypertriglyceridemia. However, serological testing for rheumatological conditions was unremarkable. Imaging studies were done and were noncontributory. Subsequently, a bone marrow aspirate and biopsy were done. The bone marrow aspirate showed afew histiocytes engulfing red blood cells and nuclear debris (hemophagocytic cells), complete trilineage maturation and normal M:E ratio of 3:1. Trephine biopsy was hypocellular for age and estimated at about 70%, composed of myeloid and erythroid precursors with various degrees of maturation. Megakaryocytes were adequate in number and showed normal morphology. Extensive histiocytic infiltration as highlighted by CD68 immunostain and focal phagocytosis were identified. CD34 highlighted &lt;5% blasts, PAS special stain showed no fungal elements and no fibrosis was evident by Reticulin special stain. The background was devoid of lymphoid aggregates or granulomas. Stainable iron stores were depleted. No sideroblasts were identified. The patient was treated with corticosteroid and showed marked improvement and was discharged after 3 days.

Results (if a Case Study enter NA)
NA

Conclusion
Hemophagocytic lymphohistiocytosis can be a critical sequela of COVID-19 infection. Suggested mechanisms include impaired/delayed T-cell response and elevated levels of several inflammatory cytokines. Clinical suspesion is important in the diagnosis of these cases. Further study of this correlation is needed as we explore clinical sequelae of COVID-19 infection.