bluuebunny/crossref_metadata_2025 huggingface dataset:
Laboratory Management for Cytopathology Fellows: Our Institution’s Curriculum
Authors: Mir F , Reynolds J , Chute D , Dyhdalo K
Published: October 2021

Introduction/Objective

The cytopathology laboratory is one of the most highly regulated clinical laboratories. The Accreditation Council for Graduate Medical Education (ACGME) milestones include competencies in laboratory management. Additionally, many cytology fellows will be involved in laboratory management after finishing training. Therefore, it is imperative to incorporate formal laboratory management training for cytology fellows. Our cytopathology department implemented a formal laboratory management curriculum this year, with emphasis placed on the milestones (1.0 and 2.0) provided by the ACGME.

Methods/Case Report

The curriculum is divided into seven modules extending throughout the fellowship year (August-April). The modules include hand-off communication, process improvement, laboratory accreditation (introduction, intermediate, advanced) and error management (introduction, intermediate). Each module has two components: self-study of assigned reading materials and online courses, followed by an interactive session with faculty and/or laboratory personnel. Several engaging, high-quality resources are used including Institute for Healthcare Improvement Open School, modules from professional organizations, PubMed articles, National Quality Forum, departmental committees and mock inspections. Each module is followed by an interactive session to review policies, procedures and/or checklists. The fellows also spend time in the cytology laboratory preparation area and participate in Quality Improvement meetings.

Results (if a Case Study enter NA)

The fellowship director discusses the educational expectations at the start of each module. Evidence of compliance is demonstrated by uploading all of the completed assignments to MedHub (a web- based training management system) at the end of the module. All of the modules include self-assessment questions that are reviewed by the fellowship director.

Conclusion

Our cytopathology laboratory introduced a structured laboratory management curriculum. This curriculum fulfills some of the laboratory management competencies put forth in the ACGME milestones. This curriculum will also help to prepare fellows to confidently participate in cytology laboratory management as they enter the workforce.
Cutaneous metastatic osteosarcoma – A rare case report
Authors: Sallagonda A , Henneberry J
Published: October 2021

Introduction/Objective

Osteosarcoma is an aggressive malignant primary bone tumor with common metastases to lungs via hematogenous spread. Other common sites of metastasis include bone and kidneys. Metastasis (excluding extraskeletal) to the skin is extremely rare. To date, roughly 12 cases of cutaneous metastasis have been reported in the literature.

Methods/Case Report

We report a 44-year-old female patient with a history of osteosarcoma of proximal tibia who underwent wide local excision in 2018 and subsequent chemotherapy. Approximately 2 years after her initial diagnosis, she presented with a painful mass in the left mid-thigh. Imaging studies revealed a 1.7 cm calcified nodule suspicious for metastatic osteosarcoma or a partially calcified granuloma. Fat necrosis and old hematoma were also considered in the radiographic differential, although less likely. An excisional biopsy was performed, which showed a high grade osteoid-producing tumor involving the deep dermis and subcutaneous adipose tissue confirming a metastasis of osteosarcoma. A new skin nodule developed at the same site six months later; though radiographic imaging studies were suggestive of subcutaneous fat stranding in the setting of cellulitis or vascular insufficiency. Given her prior history, another excisional biopsy was performed, which showed recurrent metastatic osteosarcoma.

Results (if a Case Study enter NA)

NA

Conclusion

Metastatic osteosarcoma to the skin is a rarely reported event in the literature. The prior clinical history and high index of clinical suspicion are essential in rendering the correct diagnosis. As the skin may be the first site of metastases it is important to include metastatic osteosarcoma in the differential in patients with a prior history of osteosarcoma who develops new skin or subcutaneous lesions. This case highlights the importance of providing history to the pathologist, as other tumors and non-neoplastic lesions can mimic osteosarcoma, particularly in small biopsy specimens. The easier access to the skin/ subcutis could also aid in obtaining tissue for molecular testing.
Giant Squamous Cell Carcinoma on The Scalp of A Young African American Male
Authors: Ding L , Yang B , Soofi Y , Slawinski G
Published: October 2021

Introduction/Objective

Skin cancer comprises 1-2% of all cancers in African American (AA) patients. Among all skin cancers, squamous cell carcinoma (SCC) is the most common one in AA, with an incidence of approximately 3 per 100,000. It mainly affects patients over 50-year-old. The most common locations of SCC (60-70% of cases) in AA were the sun-protected areas such as the lower limbs and anogenital region, rather than sun-exposed areas.

Methods/Case Report

We report a case of a 40-year-old AA male with longstanding folliculitis decalvans presenting with giant SCC. In 2016, the patient noted the enlargement of the atrophic hyperpigmented plaques on the right posterior scalp. They grew into a 10.5 x 10 x 4.5 cm exophytic, verrucous-like mass when the patient presented to the clinic in 2021. A skin biopsy of the giant mass showed pseudoepitheliomatous hyperplasia with cytologic atypia. CT scan ruled out underlying bone invasion. After that, the mass was resected with minimal 3-cm negative margins. Histological evaluation reveals a moderately differentiated keratinizing SCC with clear cell changes in a background of severe acute and chronic inflammation, folliculitis, and scar. No lymphovascular invasion is noted. An over 10-cm SCC arising within folliculitis decalvans on the scalp of a young AA patient is rare. To our knowledge, this the first report of such a case. Despite the limited data available, chronic scarring process and inflammation, instead of sun damage, are believed to be the most important risk factors for SCC development in the AA population. SCC greater than 4cm in chronic inflammation/scar is strongly associated with a poor prognosis. Therefore, early diagnosis, treatment, and close follow-up are critical.

Results (if a Case Study enter NA)

NA

Conclusion

Our report emphasizes (1) biopsy has limitations in diagnosing giant cutaneous neoplasms due to inadequate sampling; (2) the need for growing awareness, earlier diagnosis, and skin cancer treatment in people of color.
Immunohistochemical diagnosis of onychomycosis by monoclonal antibodies detection of dermatophyte T. rubrum
Authors: Audon P , Sigurdarson H , Guzman Y , Hua C , Bach M , Bach D , Villaluz S
Published: October 2021

Introduction/Objective

Onychomycosis is one of the most common nail infection disorders, caused predominantly by T. rubrum. Currently, PAS stain is the gold standard for histological onychomycosis detection. However, it does not differentiate between the types of fungi. In addition, PAS stains will only provide a positive or negative result. This leaves physicians to prescribe medications that may be ineffective in treating the root cause of the infection. By discerning the causative specie, physicians can provide a more targeted and effective anti-fungal therapy. A novel monoclonal antibody can be utilized to improve histological findings of T. rubrum. Our study takes a step forward to bring the monoclonal antibody into histological application. We have developed a new monoclonal antibody stain which binds to T. rubrum in vitro. For our project, we will perform in vivo staining on clinical nail samples using the novel monoclonal antibody. Developing a new applicable technique will benefit patients with onychomycosis as well as promote research in targeted identification of other infectious pathologies.

Methods/Case Report

Data from Bach Dx’s collaboration demonstrate isolation and validation of mice monoclonal antibody candidates for T. rubrum. Isotype IgG1/kappa 17B6 had the highest binding pair signal to the analyte. Direct ELISA of 17B6.1E3 shows immunoreactivity to T. rubrum. HRP and AP conjugates to 17B6 mice monoclonal antibody are produced (Rockland Immunochemicals Inc. Gilbertsville, PA). Histology slides analyzed for routine onychomycosis analysis at Bach Diagnostics are subject to secondary analysis. 220 retrospective, unstained nail slides from 55 patients will be stained using the 17B6 stains. 40 patients were known to have tested for onychomycosis caused by T. rubrum, 5 by Candida albicans, 5 by T. interdigitale, and 5 tested negative. All samples were confirmed by histology and molecular tests. H&E, PAS, and naked antibody stains will serve as controls. HRP and AP conjugated 17B6 monoclonal antibody stains will be optimized to Quantum Hdx (StatLab Lodi, CA) on July 12th, 2021 when the stains are scheduled to arrive. Images will be captured by light microscopy, and analyzed quantitatively and qualitatively.

Results (if a Case Study enter NA)

We hope to show preferential staining of antibody stains to positive T. rubrum cases by end of July 2021.

Conclusion

Conclusion pending based on results.
Primary Cutaneous Cryptococcosis of Nasal Ala with Extensive Tissue Destruction
Authors: Nishiyama-Fujita Y , Xu Y , Kondapi D S , Parkerson G R
Published: October 2021

Introduction/Objective

Primary cutaneous cryptococcosis (PCC) is rare and shows skin lesion(s) confined to a circumscribed body region mostly in immunocompromised host, with no sign of simultaneous dissemination condition. PCC usually presents as non-specific skin lesions such as cellulitis, nodules, and ulcers, and can be misdiagnosed in biopsy. We present a case of PCC with extensive tissue destruction.

Methods/Case Report

A 43-year-old male, with a history of human immunodeficiency virus infection 17 years ago, presented with complaint of his nose slowly “being eaten away” over the past 5 years after a bike accident. Physical examination showed most of the left nasal ala was completely destroyed, with visualizable septum. The biopsy of the left nasal ala showed the dermis has numerous yeasts with marked variation in size and shape, in foamy stroma with little inflammation. The capsules of the yeasts were highlighted by Mucicarmine stain. Grocott methenamine silver stain showed budding yeasts. The diagnosis of cutaneous cryptococcosis, gelatinous type, was rendered. Primary cutaneous cryptococcosis was considered based on no disseminated disease found, positive serum cryptococcus antigen with low titer (1:20), the culture of the nasal lesion positive for Crptococcus Neoformans, and the history of skin injury. The patient received appropriate treatment for PCC subsequently.

Results (if a Case Study enter NA)

NA

Conclusion

We have demonstrated a very rare case of undiagnosed/untreated PCC causing extensive destruction of skin and underlying nasal tissue. Identification of the histological features of cutaneous cryptococcosis, shown in this case, is the key for making the correct diagnosis.
NTRK3-rearranged thyroid carcinoma, clinical and pathologic features
Authors: Skibiel C , Ren S , Reid L
Published: October 2021

Introduction/Objective

NTRK3 gene encodes a transmembrane protein receptor of the tropomyosin receptor kinase (Trk) family. Gene fusions involving NTRK3 result in a constitutive activation or overexpression of Trk receptor, potentially leading to oncogenesis. NTRK targeted therapies show a promising activity in varied cancer types with NTRK fusions. The aim of this case review is to describe the clinical and pathologic findings of thyroid neoplasm with NTRK3 gene fusions.

Methods/Case Report

The cytology fine needle aspiration (FNA), molecular testing results and pathology of surgical resections are reviewed in 220 cases of total and hemithyroidectomy from January 2018 to May 2021.

Results (if a Case Study enter NA)

Three cases with NTRK3 gene fusions are identified by Thyroseq or Afirma GSC from FNA of thyroid nodules with later surgical intervention. No other mutations or gene fusions were identified. Each case had total thyroidectomy. Case 1 is a 41-year-old female with FNA diagnosis of suspicious for papillary thyroid carcinoma (PTC) and ETV6/NTRK3 fusion found by Afirma GSC. Pathology diagnosis is PTC classic type, two tumor nodules 1.1cm and 1.0cm, lymphovascular invasion not identified, three lymph nodes not involved by tumor and pathologic stage pT1b(m) pN0. Case 2 is a 49-year-old female with FNA diagnosis of atypia of undetermined significance and ETV6/NTRK3 fusion detected by Thyroseq. Pathology diagnosis is infiltrative PTC follicular variant, 2.0cm, angioinvasion present, no lymph nodes submitted and pathologic stage pT1b(m) pNX. Case 3 is a 28-year-old female with FNA diagnosis of suspicious for follicular derived neoplasm and NTRK3/RBPMS fusion is detected by Afirma GSC. Pathology diagnosis is infiltrative PTC follicular variant, 1.5cm, 9 of 11 lymph nodes positive for metastatic carcinoma and pathologic stage pT1b pN1b.

Conclusion

Thyroid neoplasm with NTRK3-rearrangement is rare. Cases 1 and 2 with common ETV6-NTRK3 fusion show PTC classic type and infiltrative PTC follicular variant with angioinvasion. Case 3 with less common NTRK3/RBPMS fusion shows infiltrative PTC follicular variant and significant lymph node involvement. Our limited cases of NTRK3-rearranged thyroid carcinoma demonstrate infiltrative growth, diverse phenotypes, one case with angioinvasion and no lymph nodes submitted and one case with multiple lymph node metastasis. This suggests aggressive behavior of thyroid cancer with NTRK3 gene fusion and patients may benefit from targeted NTRK therapy.
Synchronous bilateral pheochromocytomas and extra-adrenal paragangliomas without specific gene mutations
Authors: Bharadwaj H , Khan A
Published: October 2021

Introduction/Objective

Diagnosis of hereditary paraganglioma-pheochromocytoma syndrome (H-PGL/PCC-S) should be suspected in individuals with pheochromocytoma or paraganglioma, especially those with multifocal lesions, positive family history, or early-onset disease. Recent studies suggest one-third to half of these patients have germline/syndromic associations. We present a challenging case wherein a 44-year-old female with high-risk factors, multiple paragangliomas, and bilateral pheochromocytomas did not have any identifiable syndromic involvement.

Methods/Case Report

Patient presented seven years ago with epigastric pain, weight loss of 50lbs, and chronic diarrhea. Endoscopic ultrasound revealed 2cm hypoechoic mass behind pancreas, diagnosed as neuroendocrine tumor on fine-needle aspiration. Subsequent SPECT-CT and MRI revealed multiple intra-abdominal lesions, including bilateral adrenal-lesions (right 2cm; left 1.6cm), 2.2cm aortocaval-lesion, and multifocal retroperitoneal lesions, consistent with paragangliomas, gradually increasing in size on follow-up imaging. She also developed intermittent palpitations, flushing, and blood pressure fluctuations. Additionally, multiple thyroid nodules were identified on subsequent ultrasound imaging, suspicious for malignancy on both cytology and Afirma studies. Exploratory laparotomy with left para-adrenal, right infra-renal, and aortocaval nodule-excisions revealed nested tumor cells with abundant granular purple cytoplasm, round central nuclei, prominent nucleoli, diagnosed as moderate to poorly differentiated extra-adrenal paragangliomas with increased metastatic risk based on PASS and GAPP-scoring systems. Additionally, right adrenalectomy revealed pheochromocytoma with 7/20 PASS-score and 4/10 GAPP-score suggesting increased metastatic risk.

Results (if a Case Study enter NA)

NA

Conclusion

Young age, strong family-history, multiple high-grade paragangliomas, pheochromocytomas, and suspicious thyroid nodules raise concerns for syndromic association. Multitude of autosomal-dominant syndromes, including paraganglioma-syndromes (PGL1-to PGL5), VHL, MEN2A, MEN2B, and NF1, have been reported. Genes identified in these syndromes include SDHA, SDHB, SDHC, SDHD, SDHAF2, MAX, TMEM127, VHL, NF1, RET, FH, and KIF1B. However, no mutations were identified, thus creating a dilemma in risk-stratification. This leaves out only two considerations: either sporadic PGL/PCC or a yet unidentified genetic-mutation.
Clinicopathologic features of thyroid neoplasm with THADA-IGF2BP3 fusion
Authors: Skibiel C , Ren S , Reid L
Published: October 2021

Introduction/Objective

Thyroid adenoma-associated (THADA)-IGF2BP3 fusions is related to strong overexpression of insulin-like growth factor 2 mRNA-binding protein 3 (IGF2BP3) mRNA and protein, increased IGF2 translation and IGF1 receptor signaling via PI3K and MAPK pathways. THADA-IGF2BP3 have been identified as an oncogenic event in thyroid neoplasms, but the clinicopathologic features have not been greatly evaluated. The purpose of this cases review is to describe the clinical and pathologic findings of thyroid nodules with THADA-IGF2BP3 fusion on molecular testing.

Methods/Case Report

Surgical Pathology 220 cases of total and hemithyroidectomy from January 2018 to December 2019 were reviewed for cytology fine needle aspiration (FNA), molecular testing results and surgical resection pathology.

Results (if a Case Study enter NA)

Three cases of THADA-IGF2BP3 fusion identified by Thyroseq testing from FNA of thyroid nodules with all diagnosed as atypia of undetermined significance, Bethesda category 3. No other mutations or gene fusions are identified. Successive surgical interventions are performed. Case 1 is a 49-year-old female right hemithyroidectomy with pathologic diagnosis of papillary thyroid carcinoma (PTC) follicular variant with tumor capsular invasion and no lymphvascular invasion. The tumor is 2cm, two lymph nodes evaluated are not involved by tumor and pathological stage is pT1b pN0. Case 2 is a 71-year-old female total thyroidectomy and the pathologic diagnosis is PTC follicular variant with tumor capsular invasion and no lymphvascular invasion. The tumor is 2cm, one lymph node evaluated is not involved by tumor and pathologic stage is pT1b pN0. Case 3 is a 76-year-old male left hemithyroidectomy and pathologic diagnosis is PTC follicular variant with tumor capsular invasion and no lymphvascular invasion. The tumor is 2cm, two lymph nodes evaluated are not involved by tumor and pathologic stage is pT1b pN0.

Conclusion

THADA-GF2BP3 fusion is uncommon in thyroid neoplasms and only three cases are detected in 220 cases evaluated. The three cases of thyroid nodules are all diagnosed as AUS by FNA, and all are diagnosed as PTC follicular variant with capsular invasion upon resection without lymphvascular invasion or lymph node involvement. THADA-F2BP3 fusion is associated with thyroid carcinoma, with low-risk non-aggressive behavior, conservative surgery appears necessary and lobectomy is likely adequate.
Aggressive Behavior of Gastrointestinal Stromal Tumors (GISTs) Involving the Female Genital Tract (GYN- GIST) is Associated with TP53 Alterations
Authors: Yanchenko N , George A A , Montgomery E A
Published: October 2021

Introduction/Objective

Women with female reproductive system involvement by GISTs have an unfavorable outcome. We explored the possibility that the more aggressive behavior of GYN-GIST is related to a specific genetic alteration. Our objective was to study such tumors in a cohort of women in search of actionable genes for evolving targeted therapy.

Methods/Case Report

The pathology databases (2004-2020) of the participating institutions were searched for GIST with histologically proven GYN-GIST (study group). The control group consisted of women known to have high risk GIST without genital tract involvement. Patients for whom genetic testing of their GISTs and follow-up information were available were included in the study.

Results (if a Case Study enter NA)

Of 1082 patients with GIST, eight patients fulfilled the study group criteria. Primary sites for both groups were as follows: 5 small bowel, 1 colon, 1 rectum, 1 stomach. The mean follow-up period was 86 and 77 months (study and control, respectively, p=0.34). Favorable outcomes (disease free, stable disease) were seen in 2 and 5 women (study and Control, respectively). Unfavorable outcomes (death, progression on treatment) were seen in 6 and 3 women (study and control, respectively, p<0.05). All patients had initial KIT mutation (exons 11 or 9). In addition, 4 patients from the study group (of 5 tested) had alteration in TP53. One patient without TP53 alterations is disease free. None of the neoplasms from 8 patients tested in the control group had TP53 alterations; fatal outcomes in this group were related to superimposed KIT exon 17 mutation.

Conclusion

Alterations in TP53 (linked to the poor outcome in a host of tumors) may be related to adverse outcome in patients GYN-GIST patients and may be a potential focus as targeted therapy evolves in those patients.
Increased Activated Plasma Cells in Inflammatory Bowel Disease When Compared to Ischemic Acute Colitis
Authors: Thorburn C , Qu Z , Zhang P
Published: October 2021

Introduction/Objective

Inflammatory bowel disease (IBD) and acute ischemic colitis can both be involved by active colitis. IBD is characterized by crypt architectural distortion, basal lymphoplasmacytosis, and occasional granulomatous changes. However, diagnosis of IBDs is still largely by exclusion of other types of active colitis with similar changes. We previously demonstrated that glucose regulated protein 94 (grp94) is mainly expressed by activated plasma cells. We postulate that increased numbers of grp94-positive plasma cells may support diagnosis of IBDs. Here, we compared IBD and active ischemic colitis for grp94 expression in mucosal plasma cells of colectomy specimens

Methods/Case Report

Tissue sections from colectomy specimens with active IBD (n = 8) and ischemic colitis (n = 7) were examined for grp94 expression by immunohistochemistry (monoclonal antibody clone 9G10 at dilution of 1:200, Enzo Life Science, Inc Farmindale, NY). The staining intensity and highest number of grp94 in plasma cells per high power field was counted and recorded for each case, and combined scores were calculated as # of plasma cells multiplied by staining intensity (ranging from 0 to 3+). Unpaired student T tests were used to compare these indices between the two groups for statistical significance (p value < 0.05 was considered significantly different)

Results (if a Case Study enter NA)

Plasma cells in lamina propria identified by grp94 staining showed higher intensity in IBD than ischemic groups. The number of plasma cells and combined scores were also significantly higher in the IBC group than that of ischemic group

Conclusion

Our data indicates that active plasma cells are much more numerous in IBD than ischemic colitis, supporting the notion that active plasma cells are involved in the development of this disease process. Morphologically, active colitis with increased number of plasma cells appears to be another index favoring the diagnosis of IBD.
Histopathological Findings in the Gastrointestinal Tract of Patients with COVID-19
Authors: Middleton C E , Varshney N , Roland D
Published: October 2021

Introduction/Objective

Amidst the SARS-CoV-2 pandemic, we have learned that other organs, aside from the lungs, are affected by the virus. Tissue damage has been documented both clinically and histologically in multiple systems including the gastrointestinal tract. Clinical symptoms of gastrointestinal distress may be correlated with histopathologic findings. Studies have shown direct infection of epithelial cells in the GI tract in patients with the disease. The objective of this study is to identify specific histologic alterations that are present in patients with COVID-19.

Methods/Case Report

At our institution, a retrospective analysis was conducted to evaluate all COVID-positive patients who underwent any gastrointestinal procedure within 30 days after their positive test. The time frame included January 1, 2020 to December 31, 2020. Chart reviews were performed to document radiographic studies, endoscopic findings, histopathologic analysis, and clinical symptoms.

Results (if a Case Study enter NA)

A total of 26 patients met our criteria for inclusion in the study. The cohort consisted of 10 males and 16 females ranging in age from 13 to 78 years. Tissue was sent for histologic analysis in 19 of these individuals. Tubular adenomas (13), chronic gastritis (11), and prominent intestinal lymphoid aggregates (7) were the most common pathologic findings (Table 1).

Conclusion

These findings suggest that the histopathologic findings rendered from GI procedures of patients with COVID-19 may be non-specific and may not reveal any morphologic correlate to the clinical signs and symptoms. We propose that histopathological abnormalities identified from GI samples of SARS-CoV-2 positive patients must be correlated with clinical symptoms, endoscopic findings, and imaging when available.
Metastatic Neoplasms of the Large Bile Ducts- A Clinicopathological Study
Authors: Verma A , Nalbantoglu I , Barbieri A
Published: October 2021

Introduction/Objective

Biliary strictures are often considered malignant until proven otherwise. While the majority of malignant biliary strictures represent a primary neoplasm, secondary involvement by metastasis also rarely occurs. Primary cholangiocarcinoma and metastatic disease have different treatment considerations and likely different prognoses. The aim of this study is to look at the clinico-pathological characteristics of metastatic neoplasms of the bile duct.

Methods/Case Report

We retrospectively searched the pathology archives for biliary biopsies between 1991-2020. Patients with primary biliary, gallbladder, pancreatic, ampullary and hepatic malignancies and all cases of lymphoma were excluded from the study. A total of 20 cases were included.

Results (if a Case Study enter NA)

The median age of the patients was 63 years with a M:F ratio of 1.9:1. The biopsies were taken from the common bile duct (n=17), common hepatic duct (n=2) and left hepatic duct (n=1). 8 patients had synchronous and 12 had metachronous presentation. The overall median interval between the bile duct metastasis and primary was 18 months (Range: 0-100 months) for all patients and 33 months for metachronous cases. For 13 tumors, the primary site of origin was in the gastrointestinal tract (colon: 7; stomach: 4; anal canal: 1; gastro-esophageal junction: 1). Other primary sites included breast (3 cases), lung, endometrium and adrenal (1 each). One case presented with metastatic melanoma with an occult primary. Adenocarcinoma was the most common histological subtype seen in 17 cases. Other histological subtypes were squamous cell carcinoma, adrenocortical carcinoma and melanoma.

Conclusion

Secondary involvement of the bile duct by metastasis is rare. Most cases are metastasis from the lumenal gastrointestinal tract, with colon being the most common primary site. They are more likely to have a metachronous presentation with rare instances of bile duct metastasis as the first presentation. Awareness of secondary involvement of the biliary tree by metastasis is important as they can have prognostic and therapeutic significance.
Utility of colon allograft biopsies in surveillance of patients with small intestinal transplantation – A systematic study of 129 biopsies
Authors: Alkashash A M , Rush N , Saxena R , Rokop Z , Mangus R , Kubal C
Published: October 2021

Introduction/Objective

A segment of right colon is sometimes included with small intestinal allografts to preserve the ileocecal valve and maintain water reabsorption. We correlated pathological findings of colon allograft biopsies obtained during surveillance colonoscopies with clinical, endoscopic, and microbiologic findings.

Methods/Case Report

All colon allograft biopsies from surveillance colonoscopies over a 3-year period were reviewed for crypt apoptotic activity, cryptitis, lamina propria inflammation, ulceration, and crypt architectural distortion. Clinical and endoscopic findings, and positive cultures a week before and after the biopsies were recorded.

Results (if a Case Study enter NA)

There were 129 colon biopsies from 29 patients; 98 were histologically normal, whereas 28 showed rare apoptoses (n=14), focal cryptitis (n=8), increased intraepithelial lymphocytes (n=2), moderate acute rejection (n=1), and crypt architectural distortion (n=2). Of these 29 patients, 8 had abnormal endoscopic findings, 21 were normal. Out of 8 patients with abnormal endoscopic exams, 50% had normal histology on biopsy. Twenty-one biopsies were associated with positive cultures in the blood (n=5), urine (n=16) or wound, peritoneal, stool (n=6); 3 had abnormal endoscopies, and 4, abnormal histology. One patient with C.difficle toxin had normal endoscopy and focal cryptitis, whereas another with CMV DNA in blood showed endoscopically congested mucosa and rare apoptoses on biopsy. Of 12 biopsies (7 patients) with abnormal endoscopic findings, (erythema, congestion, ulceration), 4 biopsies had no pathologic findings, 8 had rare apoptosis, and one each had focal cryptitis and chronic colitis. Paired small intestinal biopsies were present with 59 biopsies; 10 showed rare apoptosis and 2, focal cryptitis. Of 70 without paired small intestinal biopsies, there were 5 with rare apoptotic bodies, 5 with focal cryptitis, and 2 with crypt architectural distortion.

Conclusion

The correlation of histologic, endoscopic, and microbiologic findings in colonic allograft surveillance biopsies is inconsistent. Colon allograft biopsies have limited utility in the follow-up of patients, particularly in absence of paired small intestinal biopsies.
Filiform polyposis in a 20-year-old patient with ulcerative colitis – a rare occurrence
Authors: Ramanarasimhaiah R , Chae B , Toprak M , Opitz L M , Wu H
Published: October 2021

Introduction/Objective

Filiform polyposis (FP), also referred as inflammatory polyposis or pseudopolyposis, is an uncommon benign entity usually diagnosed in patients with history of Crohn’s disease, ulcerative colitis, interstitial tuberculosis or histiocytosis X. It is characterized by multiple finger-like mucosal projections/pseudopolyps seen more commonly in transverse and descending colon. Pathogenesis of FP is uncertain but it is hypothesized to be reactive process to chronic inflammation leading to formation of fingerlike projections. The term filiform polyposis was coined in 1974 by Appleman HD and his collegues to describe numerous long slender worm-like (filiform) colonic lesions seen in radiographs. Herein, we are going to present a case of FP diagnosed in a 20-year-old male with history of medically refractive ulcerative colitis.

Methods/Case Report

The patient is a 20-year-old male, with a history of medically refractive ulcerative colitis on systemic steroids and vedolizumab. He underwent sigmoidoscopy and colonoscopy which reveals multiple pedunculated, polypoid lesions, ranging from 0.5 to 3 cm in length with white tips (cap of purulent mucous). Patient underwent total abdominal colectomy with end ileostomy. The specimen received by our deparment consist of a segment of right colon (63 cm in length, 3.5 cm in diameter) with attached ileum (3 cm in length, 2 cm in diameter) and appendix (6 cm in length, 0.8 cm in diameter). The part of the right colon is constricted/strictured measuring 24 cm in length, 2 cm in diameter. Opening reveals numerous (>100) pedunculated, finger-like polypoid lesions measuring from 0.3 cm to 2 cm in length. The lesions involve the entire right colon including distal colonic surgical margin. Appendix and ileum are not involved by the lesion and grossly unremarkable. Microscopic evaluation of the lesions reveal acute and chronic inflammatory cells, granulation tissue, areas of necrosis and reactive changes with focal mucosal atrophy consistent with chronic ulcerative colitis.

Results (if a Case Study enter NA)

NA

Conclusion

Filiform polyposis (FP) is an uncommon benign entity commonly seen in association with Inflammatory Bowel Diseases. Diagnosing FP requires comprehensive gross and microscopic examination as well as review of clinical history and imaginig studies. Because of its uncommon nature, we recommend to report this entity to raise awareness and to educate the pathologists who have not diagnosed it before.
TTF-1 Immunoexpression in Primary Rectal Adenocarcinoma with Brain Metastasis
Authors: Karimi S S , Valyi-Nagy T , Gonzalez M F
Published: October 2021

Introduction/Objective

Rectal adenocarcinoma metastatic to the brain occurs in 0.6%-3% of cases and is associated with advanced-stage disease.TTF-1 expression in rectal adenocarcinoma is an uncommon finding and less than five cases of TTF-1 positive rectal adenocarcinomas have been reported in the literature. Herein, we report a primary rectal adenocarcinoma with biopsy-proven brain metastasis, radiographic evidence of hepatic and pulmonary involvement and unique expression of TTF-1, a marker with high sensitivity for primary pulmonary and thyroid lesions. Furthermore, we discuss the importance of distinguishing this entity from Pulmonary Enteric Adenocarcinoma (PEA).

Methods/Case Report

A 68-year-old male with hypertension presented with a two-day history of left facial drooping and dysarthria. Brain MRI revealed a 2.9 cm, contrast-enhancing, solitary, right insular mass. A pterional craniotomy and gross total resection of the lesion was performed. Microscopic examination revealed metastatic adenocarcinoma with immunohistochemical expression of CAM 5.2, CDX2, CK20, focal immunoreactivity with Napsin A and TTF-1, and lack of expression of CK7 and Synaptophysin. Radiographic investigation revealed a right posterior rectal lesion and multiple hepatic and bilateral pulmonary nodules. Sigmoidoscopy a fungating, partially circumferential, ulcerated, and friable rectal mass extending 6 cm proximally from the anal verge. Biopsy demonstrated invasive well- differentiated rectal adenocarcinoma with microsatellite stable phenotype, expression of CDX2, CD20, TTF-1 in the lesional cells, and lack of immunostaining with CK7. Given these findings, we favored a diagnosis of invasive well- differentiated rectal adenocarcinoma.

Results (if a Case Study enter NA)

N/A

Conclusion

TTF-1 positive rectal adenocarcinoma is an important differential diagnosis for PEA. As the two primary lesions share histomorphological features, clinical history, radiological findings and immunohistochemical staining with CK7 can aid in distinguishing between the two entities. Recent literature suggests a possible role for CDH17 and SATB2 immunostaining to increase the sensitivity and specificity of distinction between the two entities. Lack of expression of CK7 in both the rectal and brain lesion biopsies, radiological finding of numerous bilateral pulmonary infiltrates and one large, solitary rectal mass supports the diagnosis of advanced stage primary rectal adenocarcinoma with distal metastasis in our patient.
A case of esophageal squamous cell carcinoma metastasized to the colonic anastomotic site of right hemicolectomy
Authors: Zhang Y , Nakanishi Y
Published: October 2021

Introduction/Objective

Although squamous cell carcinoma of the esophagus rarely metastasizes to the uncommon sites, colonic metastasis from squamous cell carcinoma of the esophagus is extremely rare. There has been no case report of colonic metastasis from squamous cell carcinoma of the esophagus to an anastomotic site of the colon.

Methods/Case Report

A 73-year-old female with a history of right hemicolectomy for advanced ascending colon cancer in 2006 was referred to our facility for a two-month history of solid food dysphagia. The patient has been followed up in the survivorship clinic for surveillance with no evidence of recurrence for 13 years to date. An esophagogastroduodenoscopy revealed a 7 cm fungating and ulcerated mass in the middle to lower esophagus. The biopsy from the esophageal mass showed a moderately to poorly differentiated squamous cell carcinoma. A colonoscopy showed an end-to-end ileocolonic anastomosis with a 7 mm ulceration in the transverse colon. The biopsy from the ulceration at the anastomotic site showed a moderately to poorly differentiated squamous cell carcinoma. Immunostains performed on both esophageal and colonic biopsies demonstrate that the tumor cells in both esophageal and colonic biopsies are positive for p40, p63, p16, and negative for CK7, CK20, and CDX2. The diagnosis of metastatic esophageal squamous cell carcinoma to the colonic anastomotic site of previous right hemicolectomy was rendered based on the morphology and immunoprofile. A subsequent computed tomography (CT) and positron emission tomography (PET) demonstrated no other distant metastases. Chemotherapy with 5-FU and oxaliplatin has been started.

A metastasis to the anastomotic site is extremely rare. Although the anastomotic site might be a good niche for cancer cells to metastasize to, the pathogenesis of a metastasis to the anastomotic site remains unknown. Our case is very intriguing because a metastasis occurred at the anastomosis site, and no other metastasis was found.

Results (if a Case Study enter NA)

N/A

Conclusion

We have reported the first case of metastatic esophageal squamous cell carcinoma to the colonic anastomotic site of previous right hemicolectomy in a 73-year-old female. Although the pathogenesis of a metastasis to the anastomotic site remains unknown, the possibility of contribution of surgical trauma to metastasis formation at the ileocolonic anastomosis cannot be completely ruled out.
Colonic Large Cell Neuroendocrine Carcinoma with Extensive Carcinomatosis: A Highly Aggressive Tumor
Authors: Bhatt M , Al-Khafaji B
Published: October 2021

Introduction/Objective

Large cell neuroendocrine carcinoma (LCNEC) of the colon is an exceedingly rare and aggressive neuroendocrine carcinoma. These tumors are associated with a poor prognosis, as they are commonly diagnosed in advanced stages with distant metastases. We present a case of a patient with colonic LCNEC with carcinomatosis peritonei who underwent surgical resection and hyperthermic intraperitoneal chemotherapy.

Methods/Case Report

The patient is a 49-year-old Caucasian male who presented with several months history of occasional hematochezia, constipation, 40-pound unintentional weight loss, and reflux. An initial diagnosis of adenocarcinoma of colorectal origin was rendered. Subsequently, the patient underwent a low-anterior resection with hyperthermic intraperitoneal chemotherapy (HIPEC). Histological evaluation of the rectosigmoid lesion demonstrated sheets of malignant epithelial cells with scant amphophilic cytoplasm, large pleomorphic vesicular nuclei, prominent nucleoli, and numerous mitotic figures. The tumor invaded the entire colonic wall and extended to the visceral peritoneum with extensive small vessel lymphovascular and perineural invasion with widespread involvement of the diaphragm, spleen, falciform ligament, and omentum. Immunohistochemical stains showed the tumor to be diffusely positive for CK20, CDX2, and synaptophysin; while negative for CK7, PAP, PSA, chromogranin, and p40. These findings are consistent with the diagnosis of a large cell neuroendocrine carcinoma. In addition, CD31 highlighted lymphatic spaces that were extensively filled with tumor cells. One-month post-operative, the patient remains in critical but stable condition with features of acute hypoxic respiratory failure and possible metastatic disease to the lung associated with pleural effusion.

Results (if a Case Study enter NA)

NA

Conclusion

Colonic large cell neuroendocrine carcinoma (LCNEC) is a rare, highly aggressive neuroendocrine carcinoma that frequently presents with distant metastases. Clinical awareness of the entity with early diagnosis and surgical resection remains the essential initial step. Utilizing immunohistochemistry stains to further characterize the tumor is critical to reach the correct diagnosis. Accumulating appropriate clinical data will aid in the establishment of future treatment protocols.
Squamous Metaplasia in Colonic Tubulovillous Adenoma: A Three Case Series and review of literature
Authors: Duhoki D , Allison D , Wiley E
Published: October 2021

Introduction/Objective

Although squamous metaplasia of colonic tubulovillous adenoma is a rare phenomenon, colorectal polyps can show focal squamous metaplasia. While the exact cause in unknown, it has been suggested that mechanical irritation, torsion and chronic inflammation may predispose to squamous metaplasia within large colonic polyps.

Methods/Case Report

We observed this finding in two men and one woman with colorectal polyps who underwent endoscopic mucosal resection in a three-week timeframe. In two cases the polyps were rectal, while in the third case, it was located in the descending colon. Polyp size ranged from 1-5 cm and were semi-pedunculated. Histologically, all three lesions were tubulovillous adenomas with focal high-grade dysplasia and multiple foci of squamous metaplasia characterized by cells with benign-appearing nuclei, eosinophilic cytoplasm, and solid growth pattern. Some metaplastic foci approached the muscularis mucosae, mimicking adenocarcinoma at low power magnification. Interestingly, these metaplastic foci were reactive against p16 immunohistochemical stain.

Results (if a Case Study enter NA)

NA

Conclusion

We present these three cases to add to the few previously reported. Pathologists should be aware of this finding to avoid the overdiagnosis of invasive carcinoma in the setting of nested and pseudo invasive squamous morules, especially in polyps with high grade dysplasia. In addition, squamous metaplasia could be a precursor lesion for colorectal squamous cell carcinoma.
Synchronous Schwannoma and Gastrointestinal Stromal Tumor in Small Intestine – A Rare Case
Authors: Mohammed S , Sadiq Q , Yadak N , Khan F
Published: October 2021

Introduction/Objective

Small bowel Schwannoma is a benign neoplasm of nerve sheath cells. The Gastrointestinal stromal tumor (GIST) constitutes only about 1-2% of small bowel spindle cell tumors. The simultaneous presence of two tumors in the small bowel is extremely uncommon.

Methods/Case Report

We report a case of small bowel GIST co-existing with Schwannoma. A 64-year-old female with a known history of Neurofibromatosis was admitted for excision of a small bowel tumor. MRI of the abdomen revealed two enhancing lesions in the left upper quadrant adjacent to the small bowel. Differential considerations included GIST versus Neurofibroma. Left hemicolectomy with small bowel resection was performed. The proximal small bowel revealed GIST, spindle cell type, low risk (3.5 cm), low grade (<5 mitoses/ 5mm2). Tumor cells were diffusely reactive to CD34, CD117, and DOG1 immunostains and were nonreactive to S100 and SOX10 immunostains confirming the diagnosis of GIST. Another segment of the small bowel revealed a 1.5 cm well-circumscribed, predominantly spindle cell tumor with abundant myxoid stroma and prominent cyst formation. Tumor cells were diffusely reactive to S100 and SOX10 immunostains but nonreactive to CD34, CD117, and DOG1, favoring a diagnosis of Schwannoma. Gastrointestinal Schwannomas may be associated with Neurofibromatosis in some cases. GIST, a KIT- or PGDFRA-signaling driven mesenchymal tumor has also rarely been reported to be associated with Neurofibromatosis type 1. However, synchronous small bowel Schwannoma and GIST represent a rare co-existence of two different histopathologic subtypes of spindle cell tumors.

Results (if a Case Study enter NA)

NA

Conclusion

In summary, we present the rare co-existence of two different spindle cell lesions in Neurofibromatosis patient.
Gastric marginal zone lymphoma of mucosa-associated tissue and Epstein-Barr Virus associated lymphoepithelioma gastric carcinoma: Two primaries with an unusual metachronous presentation
Authors: Gallardo J , Mahadik J , Finch C J , Szigeti R , Shilpa J
Published: October 2021

Introduction/Objective

Extranodal marginal zone lymphoma of mucosa-associated lymphoid tissue (MALT lymphoma) and Epstein-Barr virus (EBV) lymphoepithelioma gastric carcinoma, are two distinct gastric malignancies, with well-known clinicopathological characteristics. Synchronous or metachronous presentation of both entities in the same patient is extremely rare.

Methods/Case Report

We report a case of a 78-year-old woman, who presented with a 3 cm gastric body mass. Histologically, the biopsy showed H. pylori gastritis, with diffuse monotonous atypical lymphocytic cells and prominent lymphoepithelial lesions. CD20 immunostain was diffusely positive in these cells, supporting the diagnosis of MALT lymphoma. The patient was treated for H. pylorieradication, followed by Rituxan for resistant MALT lymphoma found in a surveillance biopsy. After being free of disease for one year, the patient developed a 2.0 cm, ulcerated lesion adjacent to the previous site. Biopsy of this lesion showed gastric mucosa with diffuse lymphoepithelial lesions, and atypical epithelial cells highlighted by pan-cytokeratin. The associated dense inflammatory infiltrate was comprised predominantly of CD3 T-lymphocytes. EBV was detected by in-situ hybridization (ISH) for EBV encoded RNA, and was positive in the epithelial cells, but negative in lymphocytes. These findings are consistent with EBV associated lymphoepithelioma carcinoma.

Results (if a Case Study enter NA)

NA

Conclusion

This case is presented due to its rarity, with only two cases reported previously, which invokes further research into the interaction between both infectious agents. Secondly, lymphoepithelial lesions are a common finding in both diseases, and in small biopsies, these entities can mask or mimic each other. EBV ISH and background B and T lymphocytes may be a clue and help in the diagnosis.