bluuebunny/crossref_metadata_2025 huggingface dataset:
Pathologic examination of ectopic pancreatic tissue in the gallbladder: A case report
Authors: Demetrious M G
Published: November 2023

Introduction/Objective

Ectopic pancreatic tissue (EPT) is an entity defined by the presence of pancreatic tissue at its non-physiological site, while co-existing with original tissue in its correct anatomical location. While EPT is a rare process in locations such as the stomach, duodenum, and esophagus; it is even more uncommon for it to occur in the gallbladder. To our knowledge, fewer than thirty cases of EPT in the gallbladder have been reported. The following case report presents a 47-year-old woman with ectopic pancreatic tissue in the gallbladder.

Methods/Case Report

A 47-year-old female presented to our emergency department with her third episode of colicky right upper quadrant pain. Ultrasound imaging demonstrated cholelithiasis with additional ill-defined findings of the gallbladder wall, which included but were not limited to acute emphysematous cholecystitis and chronic cholecystitis with features of porcelain gallbladder. Laparoscopic cholecystectomy was performed without complications.

Pathologic evaluation of the specimen demonstrated a cystic structure at the fundus of the gallbladder with coexisting EPT, fundic-type adenomyomatosis, and cholelithiasis.

Results (if a Case Study enter NA)

NA

Conclusion

Ectopic pancreatic tissue is a rare incidental finding which is often confused for a malignant process. While it is more commonly seen in the gastrointestinal tract from the esophagus to the duodenum, it can present in other sites such as in this case. Currently, there is no specific imaging method to determine the presence of EPT. Ultrasonography is nonspecific and EPT can be confused for a number of conditions ranging from benign to malignant. Gross examination is fairly unremarkable, however microscopic examination is a straightforward diagnosis. While it is a benign process, malignant transformation can occur and pathologists should be aware of this possibility. For this reason, additional sections may be recommended to rule out occult malignancy.
Comparison of INSM1 immunostaining with established neuroendocrine markers Synaptophysin and Chromogranin A in over 14,000 neuroendocrine and non-neuroendocrine tumors
Authors: Möller K , Gorbokon N , Hube-Magg C , Fraune C , Lennartz M , Blessin N C , Sauter G , Simon R , Minner S , Krech T , Marx A H
Published: November 2023

Introduction/Objective

INSM1 is a transcription factor protein which is increasingly used as an immunohistochemical marker for neuroendocrine differentiation.

Methods/Case Report

To determine the prevalence of INSM1 expression in tumors and its expression pattern in normal tissues, tissue microarrays containing 14,908 samples from 117 different tumor types/subtypes as well as 76 different normal tissues were analyzed by immunohistochemistry.

Results (if a Case Study enter NA)

INSM1 was positive in 89.2% of 471 neuroendocrine neoplasms (NEN) and in 3.5% of 11,815 non-neuroendocrine neoplasms that were successfully analyzed. INSM1 positivity occurred in 59 non- neuroendocrine tumor entities, of which 15 entities contained at least one strongly positive case. Comparison with synaptophysin and chromogranin A revealed that in NEN, synaptophysin showed the highest sensitivity (93.3%), followed by INSM1 (89.2%) and chromogranin A (87.5%). In neuroendocrine carcinomas (NEC), sensitivity was highest for INSM1 (88.0%), followed by synaptophysin (86.5%) and chromogranin A (66.4%). The additional use of INSM1 increased the sensitivity for detecting neuroendocrine differentiation in NEN from 88.2% (synaptophysin and chromogranin A) to 91.2% (synaptophysin, chromogranin A and INSM1).

Conclusion

Our study shows that INSM1 is a useful additional marker for neuroendocrine differentiation that shows a particularly high sensitivity in NEC. The additional use of INSM1 results in a higher sensitivity for the identification of a neuroendocrine differentiation than what can be obtained by using only synaptophysin and chromogranin A.
A Case of Recurrent Gastrointestinal Stromal Tumor with Chondroid Differentiation
Authors: Le P , Monika F , Kovar J
Published: November 2023

Introduction/Objective

Gastrointestinal stromal tumors (GIST) comprise 0.1% to 3% of gastrointestinal neoplasms but are the most common mesenchymal tumors in the gastrointestinal tract. They originate from the interstitial cells of Cajal and most frequently arise in the stomach. However, chondroid differentiation of GIST is extremely rare with less than ten cases reported in the literature. We present a case of a 58-year-old female with recurrent GIST post-imatinib therapy.

Methods/Case Report

The patient was originally diagnosed with GIST seven years prior when she visited the Emergency Department after a syncopal episode and was incidentally found to have a 11 x 8.5 x 7 cm gastric mass based on abdominal CT scan. She underwent biopsy that showed spindle cell lesion staining positively for DOG1 and CD117 and negatively for desmin, consistent with GIST. She subsequently underwent partial gastrectomy with pathology showing high grade spindle cell type GIST with focal bizarre epithelioid cells and necrosis. Molecular testing identified the tumor to have a c-KIT mutation. Based on large tumor size and risk of recurrence, she was treated with imatinib for three years. Two years after completion of imatinib therapy, her surveillance imaging showed a mass compatible with recurrence measuring 11.8 x 11.7 x 6.7 cm. Additionally, imaging identified a mass in her mid abdomen that was biopsied and showed metastatic GIST supported by immunophenotype.

The patient undewent a second partial gastrectomy and the mass on gross examination showed a heterogeneous cut surface displaying some solid and necrotic areas that appears to have invaded adjacent adipose tissue.

Histomorphological features showed a spindle component with necrosis and a focus of chondroid differentiation. Tumor cells were immunopositive for DOG1 and CD117. The chondroid component did not stain for either marker.

Results (if a Case Study enter NA)

NA

Conclusion

There have been few reported cases of GIST with chondroid differentiation. Moreover, a previous study found three of 35 patients who showed phenotypic alteration post-imatinib therapy with changes ranging from tubulopapillary to epithelioid morphology. However, there has been no case with chondroid differentiation after imatinib therapy reported. This case illustrates the variable response of GIST to imatinib and its possible transformation because of the therapy. To better understand the prognosis of GIST with chondroid differentiation, more cases should be identified, reported, and monitored closely.
Synovial Sarcoma of the Descending Colon: Report of a Rare Case and Review of the Literature
Authors: Khan A , Rishi A , Chang C , Vitkovski T , Savant D , Soundararajan S , Thomas R , Torrence D , Zhao Y
Published: November 2023

Introduction/Objective

Synovial Sarcoma is a mesenchymal malignancy that occurs primarily in the deep soft tissue near large joints of the extremities in young adults. Synovial sarcoma of the gastrointestinal tract is extremely rare. There is not enough literature to establish a consensus on management and treatment for colorectal synovial sarcoma.

Methods/Case Report

An 85-year-old male preresented with a positive cologuard test and the colonoscopy revealed a 12 mm polyp in the descending colon. Polypectomy was preformed. Histological examination exhibits spindle cell proliferation with fascicular growth pattern and with small nucleoli. There are collagen deposition, variable size of thick wall vessels and mixed inflammatory cells including lymphocytes, eosinophils and neutrophils in the background.

Mitosis are identified. Immunohistochemical stains show tumor cells are negative for CD34, S100, DOG1, CD117, STAT6, Bcl-2, Desmin, and AE1/AE3, and focal positive for EMA, SMA and ALK. Immunohistochemical stain for SS18-SSX fusion protein is positive. Archer fusionplex targeted RNA sequencing (M23-1377) showed SS18:SSX2 fusion. A structural genomic alteration between the SS18 and SSX2 genes is detected [t(18;X)(q12.1;p11.22)]. These findings confirmed the diagnosis of synovial sarcoma.

Results (if a Case Study enter NA)

NA

Conclusion

Here we report a rare case of descending colon primary synovial sarcoma. Synovial sarcoma is generally considered as an aggressive and high-grade lesion with metastatic potential and its management is different from other colorectal neoplasms. This case report emphasies a wide differential diagnosis for colorectal lesions and prompt diagnosis and early management is important for better patient outcome.
Russell body gastritis: a case series and review of literature
Authors: Arackal A , Sonawane S S , Guzman G
Published: November 2023

Introduction/Objective

Russell body gastritis is considered a rare finding characterized by Russell body-containing plasma cells in the lamina propria. Patients typically present with nonspecific findings. In this study, clinical and histopathological features of 3 cases with incidental findings of Russell body gastritis (RBG).

Methods/Case Report

The Epic SlicerDicer tool was used to identify institutional cases between April 2022 to April 2023 using the keyword “Russell Body”.

Using the PubMed database, we searched for articles published between January 2003 and April 2023, with the keyword "Russell body gastritis". Studies that described novel RBG cases were included.

Results (if a Case Study enter NA)

The three cases were female with a mean age of 47 (42-51). Two patients were presented with chronic dyspepsia and one patient was being evaluated for right upper quadrant pain. The endoscopic finding for one patient was significant for multifocal erythematous gastric mucosa and the other two patients had unremarkable findings. Biopsies from the three patients revealed active gastritis in 2 cases and inactive chronic gastritis in 1 case. A dense accumulation of plasma cells with Mott cells and Russell bodies were identified in the lamina propria. Helicobacter pylori was identified on H. pylori stain in one case. Upon further investigation, CD138 highlights the plasma cells and kappa and lambda ISH demonstrated polyclonal plasma cells and cytokeratin AE1:AE3 was negative for a carcinoma

A review of 64 previously reported cases of RBG shows that the average age of presentation is 63. Half of the cases were associated with Helicobacter pylori infection. Other associated conditions include multiple myeloma (3%) and HIV (6%). There have been 12 cases with monoclonal plasma cells with 10 cases of kappa-type monoclonality (including one case of duodenitis) and 1 case of lambda-type monoclonality.

Conclusion

Most cases of RBG have been linked with helicobacter pylori. However, the underlying etiology is not well understood. Differentials include plasmacytoma, MALToma, and signet ring carcinoma. The clinical significance and its long-term effect remain unknown. Our report is the largest review of RBG. With its wide range of clinical presentations, additional cases are to define this entity better.
Colonic Malakoplakia in Renal Transplant Patient: Case Report and Literature Review
Authors: Garzon S , Arackal A , Zaidi A , Abdalla S
Published: November 2023

Introduction/Objective

Malakoplakia is a relatively rare inflammatory condition defined by histiocytic infiltration with pathognomonic intracytoplasmic inclusions known as Michaelis-Gutmann bodies. The lesion has been strongly associated with immunosuppressed states. Although the exact mechanism is unknown, an infectious component, such as impaired bactericidal activity in macrophages is highly implicated which leads to deposition of calcium and iron on residual bacterial glycolipid. Although commonly identified in the genitourinary tract, malakoplakia has been found in virtually all organ systems.

Methods/Case Report

We hereby present a 44-year-old male with a history of renal transplantation, presenting with a history of chronic diarrhea for one year. Colonoscopy was performed which identified diverticulosis in the sigmoid colon and a 5 mm sessile rectal polyp. Histopathological examination of the polyp biopsy demonstrated chronic active colitis, histiocyte aggregates and numerous intracellular, basophilic, concentric, laminated and targetoid calcified structures that were highlighted by Von Kossa and iron stains. These structures are known as Michaelis-Gutmann bodies which are pathognomonic of malakoplakia. A literature review of 45 cases was completed by utilizing the PubMed database. The cases reviewed included involvement of the allograft, host kidney, bladder, colon, prostate, thyroid, submandibular gland, lung, and testicles. Many of the patients were managed with either long term antibiotics, reduction of immunosuppression, or excision of the lesion with improvement in symptoms and/or renal function.

Results (if a Case Study enter NA)

NA

Conclusion

Our case highlights the importance of diagnosing this benign entity on histology examination to allow early treatment and improvement in symptoms.
A Rare Case of Incidental Primary Follicular Lymphoma Co-Existing With Grade Group 5 Prostatic Adenocarcinoma
Authors: Bal S K , Odujoko O , Sieber S C , Gupta G , Beck E , Fiedler J
Published: November 2023

Introduction/Objective

Primary lymphoma of the prostate is an exceedingly rare entity comprising less than 0.1% of all prostatic cancers with follicular lymphoma making up only 12% of primary prostatic lymphomas. There is very limited literature owing to their rarity and underdiagnosis. To the best of our knowledge, prostatic adenocarcinoma with an incidental follicular lymphoma presenting as a prostate imaging reporting and data system 4 (PI-RADS 4) lesion on multiparametric magnetic resonance imaging (mpMRI) with mildly elevated serum prostate specific antigen (PSA) has not been previously described.

Methods/Case Report

A 73 year old male presented to Danbury Hospital for follow up on benign prostatic hyperplasia (BPH) diagnosed in 2020. The patient was experiencing nocturia and had a serum PSA of 4.8. Multiparametric MRI revealed an enlarged, 5.5 x 4.1 x 3.3 cm, prostate gland (estimate weight of 45.5 grams) with a

1.2 cm PI-RADS 4 lesion in the right anterior mid gland. There was no evidence of metastatic disease on his most recent body imaging. He was subsequently scheduled for prostate needle biopsy. Histopathology showed a high grade prostatic adenocarcinoma, with a Gleason score 4 + 5=9, along with a focally prominent dense lymphoid infiltrate in four of four cores from the same area of abnormality that was detected on mpMRI. The latter comprised of ill defined follicles and sheets of small cleaved atypical lymphoid cells consistent with centrocytes and very few centroblasts. By immunohistochemical staining, the atypical cells in lymphoid follicles and interfollicular areas were positive for CD20, CD10 and BCL2 and negative for cyclin D1. CD21 stain highlighted the follicular dendritic cell meshwork in the germinal centers with a low Ki67 proliferation index. A final diagnosis of low grade follicular lymphoma (grade1-2) coexisting with the prostatic adenocarcinoma was rendered. The patient is currently undergoing lymphoma staging as the treatment for adenocarcinoma is planned.

Results (if a Case Study enter NA)

NA

Conclusion

Primary lymphoma of the prostate usually presents with non specific obstructive voiding symptoms and normal or near normal PSA levels which makes it challenging for physicians to suspect lymphomas. The lymphocytic infiltrate, originally thought to be prostatitis, underwent further evaluation with immunohistochemistry due to its monotonous appearance, which clinched the final diagnosis. Careful evaluation of prostate core needle biopsies is necessary even after spotting carcinoma in order to rule out low grade lymphomas.
High-Grade Urothelial Carcinoma with Divergent Prostatic Differentiation Mimicking a Collision Tumor
Authors: Budina A , El-Sharkawy Navarro F , Vergara N , Nayak A
Published: November 2023

Introduction/Objective

High-grade urothelial carcinoma (HGUC) shows marked morphologic plasticity with many recognized histologic subtypes that may coexist within the same tumor. These pose a diagnostic challenge and should be distinguished from collision tumors, defined by the coexistence of morphologically and genotypically distinct tumors at the same anatomic site. Herein, we present the first case of HGUC with malignant prostatic differentiation mimicking a collision tumor in a bladder diverticulum.

Methods/Case Report

68 yo male presented with gross hematuria and was found to have a 2.2 cm tumor in a posterior bladder diverticulum. Initial transurethral resection (TUR) suggested HGUC, while re-TUR showed prostatic adenocarcinoma. Subsequent diverticulectomy specimen revealed two morphologically and immunohistochemically distinct tumor components: 1) a papillary component associated with urothelial carcinoma in situ, positive for CK903 and GATA3, and compatible with HGUC of the bladder, and 2) a distinct and intimately admixed malignant glandular component, which was GATA3 negative, but positive for markers of prostatic differentiation such as NKX3.1, PSA and PSAP and displayed prostatic duct adenocarcinoma features. Accurate diagnosis of this lesion is crucial, and a few possibilities exist: 1) a collision process between urothelial carcinoma of the bladder and a previously undiagnosed duct carcinoma of the prostate metastatic to the bladder diverticulum; 2) prostate cancer arising from an ectopic prostatic epithelium located in the bladder submucosa; 3) HGUC with malignant divergent prostatic differentiation. To this end, papillary and glandular tumor components were macrodissected and subjected to targeted massively parallel sequencing. Disease-associated variants in EGFR, DDR2, KMT2D, and RB1 were identified and were identical and shared among the two histologically distinct components. These findings suggest that the two components are part of the same neoplastic process and represent a urothelial carcinoma with divergent prostatic differentiation. Of note, the patient’s initial and subsequent PSA levels were within normal limits, and magnetic resonance imaging of the prostate was unremarkable.

Results (if a Case Study enter NA)

NA

Conclusion

Awareness of divergent differentiation in urothelial carcinomas has important diagnostic, prognostic and therapeutic implications and can be resolved with the use of ancillary and molecular studies.
Sclerosing Perivascular epithelioid cell neoplasms (PEComa), a rare variant in a unique family of tumors
Authors: Kokabee M , Zhong X , Sham S , Unger P , Grasso M
Published: November 2023

Introduction/Objective

Perivascular epithelioid cell neoplasms (PEComas) are a rare group of neoplasms that characteristically show both smooth muscle and melanocytic differentiation. The most common tumor in this family is renal angiomyolipoma but may occur in various sites. Sclerosing PEComa (S-PEComa) is an extremely rare variant. its only reported in females and it is usually an incidental finding in the retroperitoneum, in close proximity to the kidney.

Methods/Case Report

. We present a 52-year-old female, who had a chest CT scan for worsening cough. An - 4 cm exophytic renal mass in the left renal upper pole was found. Patient underwent left partial nephrectomy. Grossly the specimen consisted of 2.5 cm well-circumscribed, white tan mass, abutting the renal capsule, and extending into perinephric adipose tissue. Histology revealed uniform bland epithelioid cells with palely eosinophilic cytoplasm and round nuclei embedded in abundant densely sclerotic stroma. No fat was identified. Immunohistochemistry showed the tumor to be positive for desmin, HMB-45 and SMA with focal staining for AE1/AE3 and negative staining for EMA, cam 5.2, CD 117, calretinin, CD 34, S-100, PAX 8, and Melan A, which confirming the diagnosis of S-PEComa.

Results (if a Case Study enter NA)

NA

Conclusion

PEComas, excluding the epithelioid variant, usually has a benign course. In the 13 cases previously reported S-PEComa, 2 patients had metastasis. Our patient, 3-month post-op, has no evidence of disease, but close follow up still warranted.
Primary Endometrial Carcinoma with Signet Ring Cells: A Rare and Unusual Entity
Authors: Hoang J M , Masand R P
Published: November 2023

Introduction/Objective

The presence of signet ring cells in an endometrial tumor is suggestive of metastasis, as primary tumors with this morphology are extremely rare. As a result, primary tumors are a diagnosis of exclusion, defined by the presence of signet-ring cells usually associated with mucinous endometrioid carcinoma without clinical or radiographic evidence of metastases from breast, stomach, or colon.

Methods/Case Report

A 64-year-old woman presented with vaginal bleeding. Ultrasound showed a large, heterogenous uterine mass that was diagnosed as poorly differentiated carcinoma on biopsy. Serum CEA was elevated, and CA-125 was normal. Hysterectomy with salpingo-oophorectomy showed a minor endometrial component of grade 3 endometrioid carcinoma and a predominant component of poorly differentiated carcinoma with signet ring cells. The myoinvasive component consisted of the signet ring cells with pools of acellular mucin. Extensive lymphovascular invasion was noted. Cervix, adnexa, and lymph nodes were free of disease.

The signet ring cells were positive for CK7, CK20, and CDX2, and negative for ER and Pax-8. The endometrioid component was positive for ER, Pax-8, and CK7, and negative for CK20 and CDX2. E-cadherin staining was lost in the myoinvasive component of the tumor. Loss of MLH1 and PMS2 nuclear expression was seen, and MLH1 promoter methylation was detected in both components of the tumor.

Subsequent colonoscopy and imaging did not reveal any other disease sites. Based on histology, pattern of uterine involvement, and lack of extrauterine disease, a diagnosis of primary poorly-differentiated endometrial adenocarcinoma with signet ring cell features was made.

The patient was treated with adjuvant chemotherapy and is currently being followed.

Results (if a Case Study enter NA)

NA

Conclusion

We present a rare case of primary signet ring carcinoma of the uterus, a challenging diagnosis made after extensive work-up to rule out metastases. Of the previous 9 reported cases, only one was similar to our tumor with distinct endometrioid and signet ring components. Although these primary endometrial tumors are unified by the presence of signet ring cells, there is considerable immunohistochemical heterogeneity. Some reports suggest the signet ring cells have a Mullerian phenotype, while others, including our case, suggest a gastrointestinal phenotype. In presenting this case, we hope to contribute to this entity’s characterization and bring further awareness that the presence of signet ring cells does not exclude a uterine primary.
A Large Atypical Lipomatous Tumor/Well-Differentiated Liposarcoma of Buccal Mucosa: Report of A Rare Case
Authors: McGowan L A , Xu Y , Feng Z , Hernandez D J
Published: November 2023

Introduction/Objective

Liposarcoma is not common in the head and neck, and extremely rare in the oral cavity: 7% occur in the head and neck and 0.3% in the oral cavity. We report an atypical lipomatous tumor/well-differentiated liposarcoma (ATL/WDL) of the buccal mucosa with recurrence.

Methods/Case Report

A 66-year-old female presented with a right facial mass that had been present for over 10 years and resected 6 times as lipoma in her home country. The mass had grown since the last resection two years ago. Computerized tomography of neck soft tissue displayed a heterogeneous 11 cm mass with fat density in the right buccal mucosal spaces, and a 4.8 cm connecting solid nodule in the right pharyngeal mucosal space. Complete resection of the mass/nodule was performed. Grossly, the specimen consisted of two nodular masses (separately cut during operation), 13.1 cm and 7 cm, respectively. The cut surfaces of the masses revealed yellow fatty tissue with focal fleshy areas corresponding to the nodule with solid density by imagining. Microscopically, the squamous mucosa had a lipomatous tumor composed of sheets of well-differentiated adipocytes that infiltrated the underlying and surrounding skeletal muscle and connective tissue. Upon extensive sampling, scattered lipoblasts were found in relatively cellular areas. The nonlipogenic stromal cells with nuclear pleomorphism were seen in the fibrous/solid areas. No mitosis or necrosis was identified. MDM2 amplification was detected by fluorescent in situ hybridization (FISH). These findings support the diagnosis of recurrent ATL/WDL.

Results (if a Case Study enter NA)

NA

Conclusion

We demonstrate the histological features of a large atypical lipomatous tumor/well-differentiated liposarcoma of buccal mucosa. Extensive sampling of the specimen to identify the lipoblasts and atypical stromal cells, and MDM2 FISH study on suspicious cases are the keys to achieve accurate diagnosis. The high recurrence rate of this entity in the head & neck region exhibited in this case warrants the need of long-term follow-up.
Mammary Analog Secretory Carcinoma (MASC) of the oral mucosa with proven ETV6- NTRK3 fusion gene as the gold standard for diagnosis – A case series and literature review
Authors: Hussain M , Zenezan D , Khouri K , Kuklani R , Proca D
Published: November 2023

Introduction/Objective

Mammary Analog Secretory Carcinoma (MASC) is a rare type of cancer that occurs in the salivary glands. It is named after its similarity in appearance and behavior to secretory carcinoma of the breast. The incidence of MASC is estimated at 0.3%, with less tha 500 cases reported.

The diagnosis of MASC is based on a combination of clinical, radiographic, and histopathologic features. Prognosis is generally good, with a low risk of recurrence and metastasis; its differential diagnosis includes: acinic cell carcinoma, adenocarcinoma (primary or metastatic), mucoepidermoid carcinoma, and low-grade cribriform cystadenocarcinoma.

MASC is characterized by ETV6-NTRK3 fusion gene, a translocation between the ETV6 gene on chromosome 12 and the NTRK3 gene on chromosome 15, leading to the fusion of these two genes and the production of a chimeric protein. FISH testing can detect the presence of the ETV6-NTRK3 fusion gene.

The detection of the ETV6-NTRK3 fusion gene is highly specific for MASC and can aid in the diagnosis and management of this tumor. In addition, the presence of this gene fusion can have implications for targeted therapy, as drugs that target the NTRK3 gene may be effective in the treatment of MASC.

Methods/Case Report

This review aims to compare the characteristics of MASC in cases we diagnosed since 2015.

Results (if a Case Study enter NA)

Cases

Case 1 (2015)

68yo Female

Right Lower Lip, Biopsy

Positive: S100, PAS with and without diastase and mammaglobin Negative: Mucicarmine

ETV6 +

Case 2 (2016)

54yo Female

Right Buccal Mucosa, Biopsy Positive: S100, Mammaglobin Weakly positive: p63

ETV6 +

Case 3 (2016)

42yo Male

Right Buccal Mucosa, Biopsy Positive: S100, Ck7, Ck5/6, Vimentin Weakly positive: GFAP, p63 Negative: SMA, MSA, Calponin ETV6 +

Case 4 (2018)

60yo

Female

Left Soft Palate, Biopsy Positive: CK7

Weakly positive: GATA-3

Negative: CK20, TTF-1, CDX-2, Napsin A ETV6 +

Case 5 (2019)

57yo Female

Right Palatal Mucosa, Biopsy Positive: S100, Ck7, Ck5/6, Vimentin Negative: p63, GFAP, Calponin, SMA ETV6 +

Conclusion

MASC is a very rare salivary gland tumor and the gold standard for its diagnosis is FISH for ETV6 gene rearrangement. All our cases showed ETV6- NTRK3 fusion gene, while 80% (4/5) of the patients were females. S100, mammaglobin and PAS were positive in all tested cases, consistent with previous reports. The histopathological diagnosis of MASC on a biopsy can be challenging; although immunohistochemical stains and morphology may be helpful hints, FISH testing should be considered when MASC is suspected.
MatchToPath.com: A Free Online Informative Platform to Help Applicants Navigate Pathology Residency Application Process
Authors: Baskota S , Herman M , Lopez-Nunez O , Chauhan A , Mirza K M , Jones T
Published: November 2023

Introduction/Objective

Information on how to apply to pathology residency in the US has traditionally been spread by word of mouth, with applicants relying on faculty contacts or their colleagues who have previously matched into the specialty for advice. However, not all pathology applicants have access to these resources, particularly international medical graduates or osteopathic medical students that may not have a pathology department at their home institution. We created MatchToPath.com as a free, online platform featuring informative webinars, blog posts, and podcasts on how to successfully apply to pathology residency in the US.

Methods/Case Report

Website (www.matchtopath.com) traffic from January 1, 2022 to December 31, 2022 was monitored using SquareSpace (New York, NY) analytics. Six live webinars were conducted from the period of February 1, 2022 to May 1, 2023, with registrant and attendee data collected from Zoom account reports. The average number of registrants, attendees, and the attendees/registrant ratio was calculated.

Results (if a Case Study enter NA)

During this time frame, the website received 1,889 total visits, with 45% representing direct navigations to the site and 34%, 7%, and 7% representing links to the site from Twitter, Facebook, and Google, respectively (Figure 1). The site was viewed internationally, with the highest traffic originating from the US (1,398 visits; 73.3%), Nepal (94; 4.93%), and Turkey (49; 2.57%) (Figure 2). The “Blog Entries, Surveys, and More” page had the most (52%) views, followed by the homepage (24%) and the webinars page (17%).

The six live webinars had average registrant rate of 88.3% (range: 54-120). Average attendees who attended our live webinar series is 58.6% (range 37-76). The average ratio of attendees/registrants is 58.6 (range: 59.1-112.9). The recorded webinars released on the website demonstrated 43-147 views (as of May 8, 2023).

Conclusion

MatchToPath.com is a novel online platform with a global presence that provides pathology residency applicants with a database of informative advice in the pathology Match process.
Evaluation and Modeling of Factors Associated with Drug Testing Appointment Absences
Authors: Xu R , Warrington J , Nowak S
Published: November 2023

Introduction/Objective

Why doesn't a patient show up for their appointment? Is it associated with the required travel distance? Urine drug testing clinics often observe patients' scheduled visit absenteeism and record the behavior on their profiles; these records were used to answer the question and explore other potential explanations.

Methods/Case Report

With a well-developed electronic health data system, a retrospective study was performed on a large data set collected across the US with more than half a million patient encounters to verify if our theories matched the statistical results. In addition, since the dataset was collected between January 2019 and December 2021, it has nearly a year of quarantine; thus, pandemic status was also analyzed as one variable. Patient demographic information (gender, race, and age), claimed drug use, participating programs, scheduling method, assigned risk of relapse, and collection site were included in the study too.

Results (if a Case Study enter NA)

For all required travel distance ranges, 40% of patients had unexplained absence on the record, and the frequency of missed appointments increased significantly (p < 0.001) by geographic distance from a clinic, including long distance (>20 miles) and walking distance (between 0-2 miles). Automated scheduling methods also demonstrated higher rates of missed appointments than manually scheduled visits. All demographic differences provide significant (p <= 0.001) but minimal effects on missed appointments. The overall rate of missing test appointments during the pandemic was higher and returned to pre-pandemic levels in 2021. Factor analysis of mixed data was used to give a clean and easy interpretation of the data set.

Conclusion

The required travel distance had an interesting impact on patient absenteeism rate; it increases the rate for both long and short walking distances. This study provides an empirical basis for healthcare providers to personalize service plans when scheduling patients’ visits.
Demonstrable Equitable Access of Testing for Metastatic Prostate in a Veteran Affairs Medical Center (VAMC)
Authors: Dalal S , Petersen J M , Jhala D
Published: November 2023

Introduction/Objective

Prostate adenocarcinoma that has metastasized carries a significantly worse prognosis than prostate adenocarcinoma that is contained within the prostate. When there are metastases outside of the prostate, biopsies to diagnose this metastasis can help direct management and treatment of the patient. While there are known differences in the incidence of prostate cancer between different ethnic groups and differences in ethnic access to care and diagnosis varies widely between distinct medical practices, the ethnic access to biopsy diagnoses for metastatic lesions particularly in a Veteran population has not been well studied.

Methods/Case Report

A retrospective study was performed on cases from December 2019 to October 2022 to identify cases of metastatic prostatic adenocarcinoma seen at the Veteran Affairs Medical Center (VAMC). A comparison with the census data of the metropolitan area whereby the VAMC was located was also performed.

Results (if a Case Study enter NA)

A total of 21 cases demonstrating metastatic prostatic adenocarcinoma were found. The ethnic distribution of the cases included 12 African Americans (57%), 7 Caucasian Americans (33%), and 2 of unknown ethnicity (10%). The census of the metropolitan area where the VAMC was located demonstrated a general population ethnic composition of 43.6% African American and 44.4% Caucasian American.

Conclusion

The ethnic distribution of patients with pathology specimens demonstrating metastatic prostate adenocarcinoma is not significantly different than the census of the involved metropolitan area, demonstrating equitable access to biopsy diagnoses for metastatic lesions in patients with metastatic prostatic adenocarcinoma.
EFFECT OF EDUCATION FOR THE CLINICAL USAGE OF FRESH FROZEN PLASMA
Authors: Haeggstroem M , Asad M , Fiedler P , Pathan N
Published: November 2023

Introduction/Objective

Plasma is generally transfused to replenish coagulation factors to stop bleeding. It is processed as “Fresh Frozen Plasma” (FFP), wherein units are frozen within 8 hours of collection from the donor for storage, and thawed in a 30-37 C water bath before usage. The Association for the Advancement of Blood & Biotherapies (AABB) recommends a dose of 15 ml/kg plasma in adults, and one unit of FFP is 200-250 ml in volume. Plasma units are recommended to be transfused within 6 hours at a rate of 2-3 ml/kg/hour. At Danbury Hospital, Connecticut, there has been a tendency of clinicians to order only one unit of FFP, however, the recommended dose is at least two units. The exact incidence of one unit of FFP usage was not well known before the initiation of this study. This retrospective study aimed to focus on the incidence of the administration of single unit FFP and estimate the effect of education to clinicians regarding the recommended dosage of FFP.

Methods/Case Report

Inappropriate quantity was defined as the administration of only 1 FFP dose given more than 6 hours from any other FFP dose(s), either before or after. The study included all patient cases with orders of fresh frozen plasma at Danbury Hospital, Connecticut, from Dec 1, 2020 to April 30, 2022. Patients under 18 years of age were excluded from the study. Education was provided continuously during the time period through telephone calls.

Data was gathered both from blood bank records and the electronic medical record system. Trend analysis was performed on the incidence of recommended versus inappropriate dosage over the time period.

Results (if a Case Study enter NA)

94 patients were given FFP at Danbury Hospital, Connecticut, from Dec 1, 2020 to April 30, 2022. There were 49 instances of an inappropriate dose of FFP given more than 6 hours from any other FFP dose(s), resulting in a rate of 0.52 instances of inappropriate doses per patient. The rate of inappropriate doses of FFP per patient was 0.53 during the first half of the time period studied, and 0.52 during the second half. There was no significant trend in the rate of FFP doses per patient during the time period (P value: 0.9998).

Conclusion

We did not find a statistically significant change in the fresh frozen plasma (FFP) orders at our institution despite the education of clinicians by telephone contact. A robust systematic education of clinicians with digital order entry forms to actively motivate clinicians for at least two units may be required to result in a significant change in clinician practice.
A t(14;18) Negative Nodal Diffuse Follicular Lymphoma with 1p36/TNFRSF14 LOH Detected by Cytogenomic Microarray Analysis
Authors: Lazim A , Mackrides N , Nasibli J , Pei J , Nejati R , Mansoor N
Published: November 2023

Introduction/Objective

Among the already described variants of nodal follicular lymphoma (FL), there is a variant with diffuse growth pattern with a predilection to involve the inguinal lymph nodes and peculiar immunohistochemical and molecular characteristics. The diffuse growth pattern is manifested by the complete absence of follicles without a follicular/dendritic meshwork (negative CD21 and CD23). This variant was first described by Katzenberger in 2009. It is distinguished from other variants by CD23 expression, lack of t(14;18)/ IGH::BCL2 rearrangement, and chromosome segment 1p36 deletion or TNFRSF14 mutations.

Methods/Case Report

A 43-year-old Caucasian male presented with a lump in his left groin, noted by him after exercising and sought surgical opinion to rule out inguinal hernia. CT- scan of abdomen and pelvis showed a well circumscribed 4.3 cm lymph node in the left groin region. Histological analysis of the lesion depicted a lymph node with a predominantly diffuse and focally vaguely nodular proliferation effacing the architecture. Numerous centrocytes admixed with occasional centroblasts averaging <15/HPF. The neoplastic cells are positive for CD20, PAX5, CD10, BCL6, CD23 and BCL2, and are negative for CD5 and cyclin D1. The CD21 highlights few residual germinal centers at the periphery of the lymph node. The proliferative (Ki67+) index is approximately 30-40%. Flow cytometry demonstrates CD10 positive, kappa monoclonal B cell population (20% of total). FISH analysis was negative for both IgH/BCL2 t(14;18) rearrangement and TNFRSF14 (1p36) Deletion. However, cytogenomic microarray analysis (CMA) revealed genomic imbalances and copy neutral Loss of Heterozygosity over 1p36 in a mosaic state representing about 40% of the cells, which notably encompasses PRKC2, SKI, TNFRSF14, PRDM16, TP73 and PRL22 genes.

The findings are consistent with a final diagnosis of diffuse follicular lymphoma variant, WHO grade 1-2 of 3.

Results (if a Case Study enter NA)

N/A

Conclusion

The copy neutral Loss of Heterozygosity of 1p36 region which contains TNFRSF14 gene was detected by CMA only. Undoubtedly, CMA results can play a pivotal role in identifying copy neutral Loss of Heterozygosity or small regions deletions or gains that can be missed by conventional cytogenetics and FISH studies and subsequently establishing diagnosis and prognostic stratification of hematologic neoplasms.
Hodgkin lymphoma involving the Brain; A Rare Case report
Authors: Tahir M , Polski J , Elkadi O
Published: November 2023

Introduction/Objective

Hodgkin lymphoma (HL) is a systemic disease that usually affects the cervical, mediastinal, and supraclavicular lymph nodes. Involvement of the central nervous system (CNS) by primary or systemic HL is extremely rare, and it is usually associated with severe systemic relapse disease.

Methods/Case Report

A 31-year-old male presented with severe hypercalcemia and months of dry cough and B symptoms including night sweats and weight loss. The CT of the chest and abdomen was significant for splenomegaly and perihilar/subcarinal mass. The patient was diagnosed with classic HL stage IVB and was started on Adriamycin, Vinblastine Sulfate, Dacarbazine (AVD), and Brentuximab regimen. A month later the patient exhibits neurological symptoms, and an MRI of the brain showed 1 x 1 x 1.1 cm a spherical lesion near the gray-white matter differentiation of the right anterior temporal pole.

Histologically, the resection specimen consists of sheets of atypical pleomorphic cells. Some with bilobated to multilobated nuclei, a prominent eosinophilic nucleolus, and ample amphophilic cytoplasm consistent with Reed- Sternberg cells (RSC), diagnostic of classic HL.

Immunohistochemically, the RSC and variants were positive for CD15, CD30 (weak), CD79 a, and PAX5. The weak expression of CD30 was secondary to treatment with anti-CD30 antibodies. The malignant cells were negative for CD3, CD10, CD45, Bcl-2, ALK1, MUM-1, and SV40.

Results (if a Case Study enter NA)

NA

Conclusion

CNS involvement in HL is rare, but it must be considered in patients with previous history of HL who present with intracranial lesion. A multidisciplinary approach is needed for these cases because there is no consensus on the best treatment, and surgery followed by targeted radiotherapy and systemic chemotherapy should be considered on individual basis and according to the complexity of each case. At present, the prognosis of this rare complication is poor and needs to be improved.
Acute myeloid leukemia with t(16;21)(q24;q22), CBFA2T3::RUNX1, in post-treatment setting, a case report
Authors: Yang T , Khan A I , Hanan A , Kataria N , Khan A
Published: November 2023

Introduction/Objective

Acute myeloid leukemia (AML) with t(16;21)(q24;q22), CBFA2T3::RUNX1 is an uncommon entity that has been reported in both pediatric and adult patients as de novo AML or secondary to prior chemo/radiation therapy. CBFA2T3::RUNX1 AMLs share similar clinico-pathological features and gene expression profile with RUNX1::RUNX1T1 AML.

Methods/Case Report

We report a case of AML with CBFA2T3::RUNX1 in a 52 year old female who had history of small cell cervical cancer treated with chemotherapy (4 cycles of cisplatin and etoposide) and pelvic radiation therapy. About 17 months after completion of therapy, she presented with anemia and thrombocytopenia, normal WBC/neutrophil count, eosinophilia and increased blasts (up to 10%) in blood. Bone marrow biopsy shows AML with maturation (FAB-M2), erythropoiesis is present, whereas megakaryocytes are decreased. Flow cytometry analysis shows myeloblasts with aberrant CD19 and CD56 expression; in addition, increased CD117/tryptase positive cells are noted, mostly interstitial and more concentrated around bone trabeculae. By immunohistochemical stains, these cells are at least partially positive for CD25, negative CD2, CD30. Karyotype studies demonstrate t(16;21)(q24;q22) and trisomy 8 in all metaphases. FoundationOne heme NGS studies confirmed CBFA2T3::RUNX1 fusion, and no additional mutations were identified. Patient received induction chemotherapy with Idarubicin/Cytarabine plus GO (Gemtuzumab ozogamicin); day 14 bone marrow showed chemotherapeutic effect and she is now in morphologic remission 5 months after diagnosis.

Results (if a Case Study enter NA)

NA

Conclusion

Our case adds to the limited knowledge of CBFA2T3::RUNX1 AMLs. Our case shows morphological and immunophenotypic features similar to AML with RUNX1::RUNX1T1, with unusual presentation of peripheral eosinophilia, and increased CD117/tryptase positive cells in bone marrow, the latter has been reported occasionally in core binding factor AMLs. We emphasize the importance of comprehensive genetic studies in AML patients, lack of adverse genetic abnormalities in our patient indicates favorable risk category regardless of the post-treatment clinical setting.
Primary Central Nervous System ALK-Negative Anaplastic T-Cell Lymphoma is a Challenging and Uncommon Diagnosis
Authors: Mohamed R , Howell D , Peng Cheng H
Published: November 2023

Introduction/Objective

Primary central nervous system lymphoma (PCNSL) accounts for only 1% of all lymphomas and 6% of all tumors in the central nervous system. Most of these lymphomas are B-cell types, while T-cell types are less common. Anaplastic T-cell lymphoma with ALK-negative is the least common form of anaplastic T-cell lymphoma. It has a similar morphology but is more aggressive than ALK-positive variant. Smaller numbers of ALK-negative PCNSL have been reported. Herein, we report a case of cerebellar ALK-negative anaplastic T-cell lymphoma (ATCL) not only because of the unique location but also to highlight this entity to be considered in future diagnosis to avoid delay or misdiagnosis.

Methods/Case Report

A 58-year-old woman with no significant past medical history presented with headaches, aphasia, confusion, short memory loss, and loss of control over her body. She had had similar episodes more than three months before. MRI demonstrated extensive enhancement of the leptomeningeal, pial, and pachymeningeal surfaces. Moreover, there are nodular mass-like areas along the cerebellar folia. Left suboccipital craniotomy with biopsy of left cerebellar lesion was performed. Histopathological examination revealed numerous large, atypical lymphocytes characterized by large-size, ovoid to irregular to lobated nuclei, vesicular chromatin, and vacuolated cytoplasm. These cells react positive to CD3, CD30, CD43, CD2, CD7CD56, and negative to ALK1, CD8, CD20, PAX5, CD5, CD10, CD15, CD34, CD138, EMA, p63, TdT, GFAP, CAM5.3, synaptophysin, SOX10, and EBER in situ

hybridization. No ALK separation is observed by FISH; however, three copies of the ALK gene are found on chromosome 2p23. ALK-negative ATCL was diagnosed based on all these findings.

Results (if a Case Study enter NA)

N/A

Conclusion

Primary central nervous system lymphoma (PCNSL) is extremely rare, and most lymphomas are B-cell types. Anaplastic T-cell lymphomas, ALK-negative lymphoma is a rare and most aggressive variant of T-cell lymphoma. Reporting this tumor is crucial to avoid delay or misdiagnosis.