bluuebunny/crossref_metadata_2025_split huggingface dataset:
An aggressive case of Warthin-like variant of papillary thyroid carcinoma (PTC)
Authors: Ali M , Thomas S 
Published: October 2021

Abstract

Introduction/Objective
Warthin-like variant of PTC is a rare subtype of PTC, characterized by papillary growth lined with oncocytic neoplastic cells and lymphocytic rich stroma in the stalks of the papillae. It is frequently associated with Hashimoto thyroiditis and has good prognosis due to lower risk of metastasis. An association with BRAF V600E mutation has been reported. Here we report an aggressive case of Warthin-like variant of PTC.

Methods/Case Report
A 33-year-old Hispanic female presented with a progressively expanding neck mass, difficulty swallowing, voice hoarseness, and neck pain. Ultrasound showed a 3.8 cm left thyroid nodule which on biopsy was positive for PTC. Laboratory tests were positive for anti-peroxidase and anti-thyroglobulin antibodies. A total thyroidectomy was performed. Grossly, the left thyroid lobe nodule was well-circumscribed, unencapsulated, and firm with solid homogenous gray-tan cut surface. Microscopically, the nodule consisted of large eosinophilic cells demonstrating characteristic PTC nuclear features, arranged in papillary structures with the cores packed with prominent lymphoplasmacytic infiltrate consistent with Warthin-like variant of PTC (figure). Separate sub-centimeter foci of PTC with similar features were identified in a background of chronic lymphocytic thyroiditis. Central and left neck dissection showed extensive lymph node metastasis which had features similar to the primary tumor but with less pronounced lymphoplasmacytic cores. The patient is currently 6-month post operation and is receiving iodine ablative therapy.

Results (if a Case Study enter NA)
NA

Conclusion
Molecular analysis of the tumor may aid in identifying molecular aberrations responsible for the aggressive nature in this case and potentially guide treatment.
Incidental Colonic Masses and Cytomegalovirus (CMV) Infection in a Treatment- Naïve Chronic Lymphocytic Leukemia Patient without GI symptoms
Authors: Elzamly S , Taha H , Shitawi M , Ghosh A , Everett J 
Published: October 2021

Abstract

Introduction/Objective
Gastrointestinal (GI) involvement by leukemia ranges from 5.7 to 13 % with very few published reports describing infiltration of the GI tract by chronic lymphocytic leukemia (CLL). GI bleeding, abdominal pain, and obstruction have been described as presenting symptoms of GI involvement. Yet, discrete lesions are rare. Infection is a common complication in patients with CLL. In untreated patients, these infections are typically by encapsulated bacteria involving the respiratory tract and associated with hypogammaglobulinemia. Viral infections often happen after therapy. This report presents a patient with a history of treatment- naïve CLL and HSV who presented for colostomy reversal and was incidentally found to have two partially obstructing colonic masses, as well as cytomegalovirus (CMV) infection.

Methods/Case Report
This is a 78-years-old female with treatment-naïve CLL and past medical history of hypertension, atrial fibrillation, diverting colostomy secondary to chronic perineal HSV-2 ulcer and recent perirectal abscess. She presented for colostomy reversal in the absence of any reported GI symptoms at that time. Labs showed leukocytosis; WBCs count of 25 K/MM3, anemia and neutropenia. Endoscopic studies incidentally discovered two partially obstructing masses in the ascending and transverse colon that were biopsied. A right hemicolectomy and colostomy closure were followed, and the patient was discharged on valganciclovir.

Results (if a Case Study enter NA)
Histopathological examination demonstrated mucosal ulceration with viral cytopathic changes and positive CMV IHC stain. In addition, a dense atypical, small sized lymphoid cell infiltrate with no sheets of large cells or confluent necrosis were identified. Flowcytometry and IHC stains showed aberrant CD5+ B cells with CD23 co-expression consistent with the patient’s history of CLL.

Conclusion
The case describes the unique presentation of a patient with treatment- naïve CLL without any GI symptoms, yet was incidentally found to have colonic involvement by CLL forming discrete colonic masses as well as CMV and HSV infections. Since she is untreated, her infections (HSV and CMV) are likely secondary to being immunocompromised by CLL and neutropenia. In conclusion, although rare, GI involvement by CLL should be considered in treatment naïve CLL patient’s and concomitant infections should be evaluated.
Differential Diagnosis of Periportal Adenopathy Based on Endoscopic Ultrasound Guided Fine Needle Aspiration (EUS-FNA)
Authors: Esebua M 
Published: October 2021

Abstract

Introduction/Objective
Endoscopic ultrasound guided fine-needle aspiration is a safe and accurate diagnostic procedure for abdominal lymphadenopathy. Goal of this study is to evaluate the utility of EUS-FNA in two groups of patients with periportal lymphadenopathy: group 1 with diagnosis of malignancy and group 2 with no known malignant diagnosis.

Methods/Case Report
This is a retrospective study of 74 patients in our database with enlarged periportal lymph nodes detected on cross sectional imaging of the abdomen. All patients underwent EUS-FNA with 22-gauge needle. Three passes were performed for each lymph node detected. Median size of periportal lymph nodes was 19.8 mm (ranging from 5 to 59 mm). 2 groups were compared: group 1 with known malignancy and group 2 with no known malignancy. All patients were clinically followed 6-12month from the procedure.

Results (if a Case Study enter NA)
25 of the 74 (34%) patients had malignant diagnosis. The types of neoplasia detected were lymphoma (3), metastatic adenocarcinoma (16), metastatic acinar cell carcinoma (1) and metastatic neuroendocrine tumor (5). 42 of 74 patients (57%) had negative fine-needle aspiration diagnosis: 40 patients had reactive lymph node diagnosis, 2 patients had granulomatous inflammation diagnosis. 2(1%) of 74 cases had atypical diagnosis, 5(7%) cases were unsatisfactory due to inadequate material obtained during procedure. Sensitivity of the procedure is 45.8% and, specificity is 100%. Positive predictive value (PPV) is 100% and negative predictive value (NPV) is 78.7%. EUS-FNA can detect positive lymph nodes as small as 1 cm, however, this method can also miss positive lymph nodes up to size of 3.5 cm which probably due to the uneven involving of the nodes by tumor cells. Lymph nodes 3.5cm and larger are more likely to be malignant, however in differential diagnosis of small lymph nodes (1 cm in length) they were noT statistically significant difference between the pathologic and benign lymph nodes.

Conclusion
EUS-FNA is effective method for investigating periportal lymphadenopathy with known or unknown malignancy.
Epstein-Barr Virus associated gastric carcinoma in a patient with germline STAT3 gain-of-function mutation
Authors: Mahadik J , Patel K , Cortes-Santiago N 
Published: October 2021

Abstract

Introduction/Objective
Signal transducer and activator of transcription 3 (STAT3) is a transcription factor involved in inflammation, proliferation, differentiation and survival. STAT3 gain-of-function (GoF) disorders are characterized by immune dysregulation and present with polyendocrinopathy, enteropathy, X-linked syndrome (IPEX)- or autoimmune lymphoproliferative syndrome (ALPS)-like features. While patients with STAT-3 GoF are known to have an increased risk for hematologic malignancies, neither solid tumors nor an increased risk for EBV-associated disorders have been described. We report the first case of an EBV-associated solid organ tumor in a patient with STAT-3 GoF.

Methods/Case Report
A 21-year-old male with germline mutation in STAT3 (variant p. M329K) presented with early satiety, abdominal pain and worsening of chronic anemia. Serology showed high EBV DNA PCR levels. Endoscopy showed multiple nodular lesions in the stomach, which were biopsied to reveal EBV-associated high-grade dysplasia and intramucosal adenocarcinoma. Initiation of chemotherapy with a poor response led to a total gastrectomy. Gross examination of the specimen showed a 7.9 x 6.5 x 1.8 cm tan-brown, exophytic mass in the posterior wall of the body and antrum, involving the greater curvature. Histology revealed an adenocarcinoma with tubulovillous morphology extending into the lamina propria, without invasion into the muscularis mucosa or submucosa. EBER in-situ hybridization was diffusely positive in the tumor cells. The background mucosa showed severe chronic active and atrophic gastritis with intestinal metaplasia and low-grade dysplasia. All the seventy examined lymph nodes were negative for metastasis. Helicobacter-like organisms were not seen.

Results (if a Case Study enter NA)
NA

Conclusion
This is the first report of a solid tumor in a patient with STAT3 GoF mutation. The role of the patient’s underlying immune dysregulation disorder in the development of EBV-associated gastric adenocarcinoma is unclear and warrants further investigation. The case also highlights the importance of a close clinical follow-up in this patient population, as unexpected malignancies can develop at younger ages.
Placental Mesenchymal Dysplasia, An Exceedingly Rare Entity and Challenging Diagnosis
Authors: Hussain F , Kumar V , Prakash V , Shenoy V , Al Hmada Y 
Published: October 2021

Abstract

Introduction/Objective
Placental mesenchymal dysplasia (PMD) is an extremely rare entity with an incidence of only 0.02/1000 deliveries.

Methods/Case Report
We present a case of a 26 year-old female Gravida 3, Para 1 with intrauterine pregnancy at 37 weeks of gestation. Fetal ultrasound showed mildly cystic upper portion of the placenta. The noninvasive prenatal testing was negative for triploidy. A viable healthy female infant was delivered with no maternal complications.
On gross examination, placenta was heavy with approximately 25% incomplete cotyledons. Placental maternal surface showed, spongiform cut surfaces admixed with multiple cystic structures ranging in size from 0.5 to 1.5 cm and markedly dilated blood vessels.
Histopathologic examination revealed markedly enlarged villi, mesenchymal hyperplasia, and hyper vascularity of small vessels. No trophoblast proliferation was identified. Subsequently, the diagnosis of PMD was made.

Results (if a Case Study enter NA)
NA

Conclusion
PMD is a rare anomaly which is characterized by placentomegaly and grape like vesicles resembling molar pregnancy. Etiologies include imbalance of paternal and maternal alleles, androgenetic and bi-parental mosaicism, and Beckwith Weidman Syndrome (BWS). Differential diagnosis includes partial molar pregnancy, complete mole with co-existing normal fetus, hemangioma, subchorionic hematoma, confined placental mosaicism and hydropic complications. Histologic features, ancillary studies including immunohistochemistry and genetic testing are helpful in differentiating PMD. PMD is an underdiagnosed entity with increased risk of premature delivery and intrauterine fetal death. It is pertinent for the clinicians to be aware of this entity for optimal patient management.
Molecular findings in bone marrow samples of myeloid sarcoma
Authors: Khan J , Nassiri M 
Published: October 2021

Abstract

Introduction/Objective
Myeloid sarcoma is a rare extramedullary manifestation of acute myeloid leukemia. There are very few studies regarding molecular findings in myeloid sarcoma or their associated myeloid leukemia

Methods/Case Report
We evaluated cases of myeloid sarcoma with concurrent or prior bone marrow studies diagnosed as acute myeloid leukemia, from 2014 to 2021. We searched our Anatomic pathology information system for the terms ‘myeloid sarcoma’ or ‘leukemia cutis’. Out of 58 cases of myeloid sarcoma, ten had next generation sequencing studies (FoundationOne Heme) performed on bone marrow aspirate. Results-There were 7 male and 3 female patients. Age range was from 1-79 yrs. Myeloid sarcoma involved the skin (n=7) or soft tissue (n=3). Most common mutated genes were KMT2A/MLL (n=4, all translocations/fusions) followed by AXL1 (n=3), TP53 (n=3), NRAS (n=2), TET2 (n=2) and CEPBA (n=2). KMT2A fusion partners were MLLT1/ENL (n=1), MLLT3 (n=1), and MLLT10/AF10 (n=2). In all except for one case that harbored KMT2A/MLL fusions, karyotype also showed translocation of KMT2A. Only one case had both an AXL stop codon and a KMT2A translocation, otherwise AXL1/CEBPA mutated cases and KMT2A/MLL mutated cases were mutually exclusive. Other mutated genes were PHF6, BRCA2, DNMT3A, NPM1, RAD21, CBL, KMD6A, and NF1; each found in one case.

Results (if a Case Study enter NA)
Our result support the notion of higher risk of myeloid sarcoma in KMT2A and TP53 mutated AMLs. Except for absence of spliceosomes mutation, the incidence of mutated genes and functional categories in our series is concordance with two previously published studies.

Conclusion
Our result support the notion of higher risk of myeloid sarcoma in KMT2A and TP53 mutated AMLs. Except for absence of spliceosomes mutation, the incidence of mutated genes and functional categories in our series is concordance with two previously published studies.
A Case Of Disseminated Histoplasmosis In A Patient With Sarcoidosis
Authors: Prisneac I , Vos J , LaSala R , Randall C 
Published: October 2021

Abstract

Introduction/Objective
Sarcoidosis is a syndrome of unknown cause that may manifest with clinical, radiographic and pathological findings similar to those seen with histoplasmosis. We present a case of disseminated histoplasmosis in an immunocompetent patient previously diagnosed with sarcoidosis.

Methods/Case Report
A 69-year-old obese male with a history of hypertension, diabetes mellitus and long-standing sarcoidosis was admitted to the hospital for several months of intermittent fevers and pancytopenia. His sarcoidosis was diagnosed 21 years prior, initially involving the lungs and eventually showing cardiac involvement, requiring a pacemaker. He had been treated with methotrexate and prednisone. His recent medical history was also significant for COVID-19 infection, diagnosed 3 months before admission. His fevers were initially attributed to sarcoidosis and his pancytopenia to methotrexate. However, his symptoms continued despite discontinuation of his medications, and further workup was initiated.
Computed tomography showed hepatomegaly, splenomegaly, and lymphadenopathy, concerning for a lymphoproliferative disorder. The patient underwent a bone marrow biopsy that showed noncaseating granulomas and microorganisms consistent with histoplasmosis on fungal stain. Bone marrow cultures were not possible as the marrow was inaspirable. The patient subsequently underwent a lymph node biopsy with both morphology and culture identifying histoplasmosis. Urine and serum histoplasma antigen also returned positive. The patient’s overall clinical picture was consistent with disseminated histoplasmosis and he was administered intravenous Amphotericin B for 3 weeks followed by oral itraconazole for 1 year. One month follow-up after discharge showed significant improvement in the patient’s condition.

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

Conclusion
Sarcoidosis reduces T-cell activity, and treatment with steroids causes further immunosuppression and vulnerability for development of a disseminated infection. COVID-19 also presumably increases the predisposition to acquire bacterial or fungal co-infections. Clinicians and pathologists should be aware of the overlap in clinical, radiologic and pathological presentations of sarcoidosis and histoplasmosis to make the correct diagnosis and administer the appropriate treatment.
A Novel Automated Hematopathologist-Styled Commenter for Complete Blood Count and Smear Review
Authors: Elsafty A , Ahmed Y , Soliman A , Morsy A A 
Published: October 2021

Abstract

Introduction/Objective
Prevention of errors and increasing productivity are essential for managing the workflow in hematopathology labs, particularly under stress and fatigue conditions. The proposed automated commenter system is designed to directly address these critical issues. Care was also taken to ensure ease of use and minimum training time.

Methods/Case Report
Using 20 quantitative and qualitative parameters in 3 groups (RBCs, WBCs and platelets), our novel automated commenter is able to generate a hematopathologist’s report/interpretation for CBC and smear review. Built-in reference ranges can be adjusted to accommodate variability in cutoffs. There are alarms for entry of seemingly odd values, differential counts not adding up to 100% or suspected cold agglutination, lipemia and hemolysis in the specimen. Our automated commenter was developed and tested against more than 1,000 hematopathology reports. These reports included clinicopathologic correlations for different type hematopathology neoplasms and benign disorders. At least 100 reports were selected for each disease category covering all subclasses and grades. Ample user acceptance testing was conducted using feedback surveys from hematopathologists, hemato-oncologists and clinicians.

Results (if a Case Study enter NA)
Generated comments are narrative, concise, comprehensive and accurate. The abnormal findings are arranged by their grade and significance. For example, the following comment was generated using the system: “CBC and smear review reveals mild macrocytic pancytopenia with anisocytosis, increased peripheral circulating blasts above the cutoff of Acute Leukemia and critically severe neutropenia (Hgb 11.0 g/dL, MCV 103.5 fL, RDW 14.9%, WBC 3.2 K/µL, blasts 29%, promyelocytes 2%, myelocytes 5%, metamyelocytes 1%, nRBCs 5/100 WBCs, ANC 0.3 K/µL & Plt 125 K/µL) with mild dysgranulopoiesis and dacrocytosis (teardrops).”

Conclusion
Absence of clerical and scientific errors, reportedly positive user experience and saving 50-80% of pathologists’ working time are all advantages that indicate feasibility of large-scale adoption of our system by hematopathology labs. Workflow fitness, standardization, minimizing the manual variations and using the system as a professional training tool also strongly support this conjecture. The system could be used to fully automate clinicopathologic correlation with phenotypic and genetic tests and to develop an automated test selector (Triage Advisor).
Laboratory Analysis of Antiphospholipid Antibodies with Clinical Correlation: A Hospital-Based 10 Year Study
Authors: Myrzykowski M , Xie C , Sweet R , Xie M 
Published: October 2021

Abstract

Introduction/Objective
Antiphospholipid syndrome (APS) is an autoimmune disorder and its diagnosis requires both laboratory evaluation of antiphospholipid antibodies (APAs) and clinical correlation. This study focused on the laboratory analysis of APS with clinical correlation in a hospital-based patient population.

Methods/Case Report
From 2010-2020, immunological studies for APAs were performed at Department of Pathology, William Beaumont Hospital – Troy, Michigan and patients with positive results were selected for further analysis. Four APAs were included: IgG and IgM beta-2 glycoprotein I antibodies (IgG B2GA and IgM B2GA), and IgG and IgM anticardiolipin antibodies (IgG ACA and IgM ACA). Clinical information was collected from hospital electronic medical chart with focus on thromboembolism and abortion history, autoimmune disorders, antithrombotic therapies and other studies.

Results (if a Case Study enter NA)
There were 167 patients, 136 females and 31 males (F/M=4.4). The median age for females was 50 and for males, 57. Overall, B2GA was present more than ACA (102/81) in females, and ACA was present slightly more than B2GA (20/17) in males. IgM APAs were much more common than IgG APAs; IgM B2GA/IgG B2GA: 87/32 (p&lt;0.01) and IgM ACA/IgG ACA: 81/20 (p&lt;0.01). Most APAs were at the low-intermediate titer range and increased APAs titer correlated with decreased positive rate: APAs titer at 20-40, 41-80 and &gt;80 with positive results at 115, 61 and 44 respectively. In addition to documented autoimmune disorders, pregnancy miscarriage was a common clinical condition (24/66) in females at age &lt;45. But for females at age &gt;45, vascular thrombosis became more common (18/70). Vascular thrombosis was a common clinical disease in males (16/31) followed by autoimmune disorders (10/31). Most patients with vascular thrombosis received antithrombotic therapies.

Conclusion
Female patients positive for APAs was significantly more and younger than males in this study. IgM B2GA was the most common type of APAs followed by IgM ACA. IgG B2GA and IgG ACA were much less common. In younger female patients autoimmune disorders and abortion were the most common clinical conditions. In older female and male patients, autoimmune disorders and vascular thrombosis were the most common clinical conditions. The titer of APAs detected was at low-intermediate range in most patients. The relationship between the titer of APAs and clinical conditions needs further study.
Hyperhemolysis Syndrome Following Pre-Operative Red Blood Cell Exchange
Authors: Allison D , Karimi S S , Campbell-Lee S 
Published: October 2021

Abstract

Introduction/Objective
Pre-operative red blood cell exchange (RBCX) for patients with Sickle Cell Disease (SCD) is a category III indication. In our institution, RBCX is routinely performed pre-operatively when general anesthesia is necessary with the goal of HbS%&lt;30 and reduction in adverse events related to general anesthesia. In the context of elective surgery, the risks and benefits of both the operation and any pre-operative transfusion must be discussed with the patient. Herein, we present an extreme case of Hyperhemolysis Syndrome resulting from a pre-operative RBCX.

Methods/Case Report
A 23-year-old transgender female with SCD (Hb S Lepore) treated with Hydroxyurea presented for elective breast augmentation for gender-affirmation. Her pre-operative plan included a RBCX. Her pre-exchange hemoglobin (Hb) and hematocrit (Hct) were 10.3 g/dL and 29.3%, respectively. Hb electrophoresis revealed HbS 52%, HbF 41.4%, HbA2 7.4%, and HbA was not detected. Type and Screen (T&S) demonstrated O + blood group, with a negative antibody screen, and with no known historical alloantibodies.
RBCX was performed using the Spectra Optia (TerumoBCT, Lakewood, CO, USA) with exchange volume of 1.9 L of group O+ RBCs, phenotypically matched for C, E, and K, an end Hct of 30% and an FCR of 30%. Her post-exchange Hb and Hct were 10.2g/dL and 29.5%, respectively. Hemoglobin fractionation revealed HbS 12% and HbA 73%.
She underwent surgery without intraoperative complications. Two weeks post RBCX, her Hb had decreased to 5.3 g/dl, and her LDH and Total Bilirubin had increased to 253 ul and 1.8 mg/dl, respectively. A repeat T&S drawn 8 days after RBCX revealed a positive antibody screen and direct antiglobulin test (DAT). Three new alloantibodies were identified: anti-Fya (present in plasma and eluate); anti-Jkb (present in plasma); anti-S (eluate). She was treated with IVIG, 0.4 g/Kg/day for 5 consecutive days and 2 doses of subcutaneous darbepoetin 100 mcg and subsequently discharged with close outpatient follow up. Her Hb returned to baseline at 11 g/dL, 48 days post RBCX.

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

Conclusion
Pre-operative RBCX decreases morbidity in sickle cell patients undergoing general anesthesia. In the setting of elective surgery, patients must be counseled on the benefits and risks of surgery as well as the requisite RBCX. In our case, the patient developed multiple alloantibodies, with lifelong implications should she ever need future blood transfusions.