bluuebunny/crossref_metadata_2025 huggingface dataset:
Indolent systemic mastocytosis or just ‘atypical enterocolic mast cell aggregates’?
Authors: Edema U , Fang Y , Qiang L , Huang Y
Published: October 2021

Introduction/Objective

Mastocytosis is a rare disease in which there are abnormal mast cell accumulation in one or more tissue sites. Multifocal dense mast cell aggregates with atypical morphology or immunohistochemistry are considered as systemic mastocytosis (SM) based on WHO criteria. SM usually involves bone marrow and majority of them also have KIT mutation. There are rare case reports of atypical enterocolic mast cell aggregates (EMCA) confined to gastrointestinal (GI) only with mild or no symptoms. Here we present a case with extensive atypical mast cell aggregates in lower GI tract yet no evidence of involvement of other organs.

Methods/Case Report

A 34-year-old woman presented with abdominal bloating, diarrhea along with pruritis but no cutaneous lesion. Biopsies from the ascending and descending colons, caecum and rectum consistently showed increased eosinophils and multifocal infiltrates of atypical spindle shaped mast cells which are positive for CD117/tryptase but negative for CD2 and CD25. This is consistent with SM by WHO criteria based on morphology. Bone marrow biopsy showed normal amount of mast cells with normal morphology. Upper gastrointestinal biopsy was unremarkable. Serum tryptase level was normal. No KIT mutation was detected in exon 9, 11, 13 or 17 from colonic mucosa. Patient has been treated with antihistamine and Montelukast and symptoms resolved.

Results (if a Case Study enter NA)

N/A

Conclusion

This case met the criteria of SM based on the presence of multifocal mast cell aggregates and atypical spindle morphology >25%. Johncilla et al. previously reported 16 cases of EMCA with atypical morphology or immunohistochemistry, absent to mild localized symptoms, and negative KIT mutation. Based on lack of generalized disease, the authors preferred using descriptive terminology instead of ‘systemic mastocytosis’ for those cases. Our case has broader involvement of lower gastrointestinal tract than any reported case and the patient needs treatment for the symptoms. However, there is no ‘systemic’ involvement of bone marrow or any other organ. The diagnosis of ‘Systemic Mastocytosis’ would cause potential confusion and/or unnecessary anxiety. Further study of more cases is needed to better characterize and categorize the cases of atypical mast cell aggregates localized only to the GI.
Duodenal Duplication Cyst in adult male; An Extremely Rare Entity and a Diagnostic Pitfall leading to Whipple procedure
Authors: Hussain F , Sonani H , Anderson C , Varshney N
Published: October 2021

Introduction/Objective

Whipple procedure is a complex, invasive operation and has high morbidity and mortality. It is the most commonly indicated treatment for treating malignant tumors, however, it can be also used for benign entities as well including biliary stricture, chronic pancreatitis, choledochal cyst, inflammatory pseudotumour, and duodenal angiodysplasia.

Methods/Case Report

We report a case of a 50-year-old man who presented with symptoms of gastric outlet obstruction. Esophagogastroduodenoscopy and CT scan showed an obstruction at the level of the second part of the duodenum with proximal dilation. Subsequently, a Whipple procedure was performed based on high clinical suspicion of duodenal cancer. Gross examination revealed a unilocular thick walled cyst (4.2 cm) in the duodenum. Histopathologic examination showed a cyst lined by duodenal mucosa with thick smooth muscle wall and focal ectopic gastric tissue. This was finally diagnosed as a duodenal cyst consistent with duplication cyst.

Results (if a Case Study enter NA)

NA

Conclusion

Duplication cysts are rare congenital abnormality predominantly diagnosed in infancy and childhood. They are most commonly located in the distal ileum, followed by the esophagus and ileocecal region, and are extremely rare in duodenum. Differential diagnosis includes choledochocele, pancreatic pseudocyst, and cystic tumors of the pancreas, mesenteric cysts, and duodenal diverticulums. Treatment options include total excision, cystojejunostomy, and endoscopic marsupialization but occasionally may lead to more invasive measures such as the Whipple procedure. Although duodenal duplication cysts can have variable clinical presentation and radiological findings, making preoperative diagnosis very challenging, it is still pertinent to be aware of this entity for the optimal patient care.
Dicyclomine-Induced Esophagitis Dissecans Superficialis
Authors: Alkamachi B , Siddiqui Y , Jaratli H
Published: October 2021

Introduction/Objective

Esophagitis dissecans superficialis (EDS) is a rare benign condition of the esophagus, characterized by desquamation of superficial epithelium of the esophageal lining. Etiology is uncertain, considered idiopathic in most cases. EDS can be associated with medications, hot beverages, chemical irritants, celiac disease and skin bullous disorders. It has a predilection for the distal and/or middle esophagus.

Methods/Case Report

We report a case of a 25-year-old otherwise healthy female with mild gastrointestinal symptoms over 3 years. Her symptoms had worsened over a period of 2-3 weeks, and she complained of lower abdominal cramping associated with constipation. No rectal bleeding or melena was reported. Labs including complete blood count and comprehensive metabolic panel were within normal range values. A presumptive diagnosis of irritable bowel syndrome was made by gastroenterologist. Antispasmodic drug, Dicyclomine 10 mg capsule (a blue capsule), was prescribed. After 4 weeks, a scheduled esophagogastroduodenoscopy revealed patchy plaque-like mucosal changes, characterized by blue discoloration, in the upper third of esophagus. Microscopically, biopsy showed strips of squamous mucosa with a thick layer of parakeratosis, basal cell hyperplasia and foci of minimal inflammation. There were multiple transverse splits at different levels in the parakeratotic layer. A pathologic diagnosis of EDS was established. A further clinical investigation demonstrated that the patient was swallowing medication without water.

Results (if a Case Study enter NA)

NA

Conclusion

In conclusion, we present the first case of Dicyclomine-Induced EDS secondary to an irritant effect of waterless medication ingestion. Recognition of this rare entity and clinical correlation are important as it can pose a diagnostic challenge to pathologists and clinicians.
Incidental Gastrointestinal Stromal Tumors – What can we learn from them?
Authors: Proca D , Lazim A , Mazur I , Jhala N
Published: October 2021

Introduction/Objective

Gastrointestinal stromal tumors (GIST), albeit very rare overall, with approximately 5,000 new diagnoses yearly in the US, represent the most common mesenchymal tumor involving the GI tract. particularly the stomach and small bowel. Much progress has been made in the past two decades in terms of classification and targeted therapy of GIST, however, their behavior is still quite challenging and unpredictable, and their prognosis remains guarded.

Methods/Case Report

We reviewed our institutional experience with GIST over the past decade and identified 80 GIST in total, 5 of which were incidental findings, meaning that they were detected as a secondary diagnosis in a specimen that was obtained for a different pathology. All 5 tumors were less than 2 cm in greatest dimension and showed less than 5 mitoses/ 50HPF, which put them into the “no risk of malignant progression category”. As a matter of fact, all five tumors were less than 1 cm (ranging from 0.2-0.7cm), while the mean size overall for GIST is 6 cm, ranging from 0.2-40 cm. They were all c-kit and DOG-1 positive, and 3 out of 5 incidental GIST were diagnosed in association with an adenocarcinoma of the GI tract (gastric or distal esophagus). Three of the 5 incidental GIST were located in the stomach, one in the distal esophagus and one in the sigmoid; unsurprisingly, two gastric and one esophageal GIST were associated with poorly differentiated adenocarcinoma of the stomach or distal esophagus. The mean age at diagnosis in our series was 72.4 yo, while reported mean age for GIST ranges between 60-65yo. All but one of the patients with incidental GIST were males, while there seems to be no gender predilection in GIST in general. The two benign cases associated with incidental, “no risk” GIST were perforated diverticulitis and sleeve gastrectomy for morbid obesity. Review of the stained slides showed no apparent increase of interstitial cells of Cajal in the blocks containing the tumor.

Results (if a Case Study enter NA)

NA

Conclusion

In summary, we report a small series of 5 incidental GIST diagnosed over a span of 10 years in our institution. Although a rare tumor overall, with an annual incidence of 10-20 new cases/ million, incidental GIST is even more rare, in our case representing 6.25% out of the total number of cases diagnosed in a decade. Increased awareness of the incidental GIST and closer pathological assessment may throw more light into the pathogenesis of GIST in general.
Malignant Mixed Germ Cell Tumor of the Testis with Associated Nephroblastoma: A Rare Entity
Authors: Al-Attar M M , Cosar E F , Clark J L
Published: October 2021

Introduction/Objective

While nephroblastoma is the most common primary childhood renal malignancy, it rarely occurs at extra-renal sites. Testicular nephroblastoma is exceedingly rare, with only 5 previously reported cases arising in association with primary testicular teratoma (4 of which arising in non-atrophic, and 1 arising in atrophic testis). We report a case of testicular nephroblastoma with multiple associated germ cell components.

Methods/Case Report

The case is that of a 28-year-old male presenting with an enlarging, painless right scrotal swelling. Laboratory results showed elevated serum AFP with normal LDH and beta-HCG, and imaging confirmed the presence of a heterogenous testicular mass. A radical orchiectomy was performed, revealing a tan-white, fleshy, nodular 5.5 cm mass almost entirely replacing the testicular parenchyma. Microscopically, the tumor consisted of multiple components. The nephroblastoma component was associated with teratoma with immature elements and consisted of epithelial tubular structures, small blue blastemal cells, and pale mesenchymal stroma which demonstrated pan-cytokeratin and patchy WT1 expression by immunohistochemistry. Additional components included yolk sac tumor and minor component of seminoma. Foci of germ cell neoplasia in-situ were also identified, supported by immunohistochemical stains for PLAP and OCT3/4. The patient’s post-resection tumor markers normalized, and further assessment for metastasis and chemotherapy is pending.

Results (if a Case Study enter NA)

NA

Conclusion

Malignant mixed germ cell tumors of the testis with associated nephroblastoma are exceedingly rare, further studies nand followup are required to determine prognostic values and achieve a more complete understanding of this combination of entities.
Malignant Melanoma of the Genitourinary System
Authors: Khayyat A , Amin A
Published: October 2021

Introduction/Objective

Malignant melanoma (MM) of mucosal membranes (excluding anus and head and neck) is a rare but aggressive disease with poor outcome. There is little information available on the development mechanism, risk factors, and management of this tumor, mainly due to the low number of cases.

Methods/Case Report

We performed a comprehensive literature review on mucosal MM (between 1970-2020). We identified 52 papers reporting 242 patients with primary genitourinary melanomas (limited to urothelium, vagina and cervix). A comprehensive review of the demographics, stage, treatment and survival was performed.

Results (if a Case Study enter NA)

The demographics are provided in Table 1. In 204 cases, lesions were located in the urothelium (urethra: 202, bladder: 2) followed by 34 in the vagina and 4 in uterine cervix. None of the cases had any other known primary source of MM. Molecular studies in a subset of cases revealed alterations in c-KIT, NRAS, BRAF (non-V600E and V600E), TP53 and NF1 (Table 2). Tumor stage was provided in a few (n=10) cases (stage 1=1, stage 2=1, stage 3=3 & stage 4=5). 3 patients had distant metastasis (brain, retroperitoneal and inguinal lymph nodes). Treatment data was available in 178 cases. 177 patients were managed by surgery. In addition to surgery, 10 received chemotherapy, 7 received immunotherapy and chemotherapy, 2 received chemoradiation, 1 received immunotherapy and 1 received radiotherapy. In 43 patients, the treatment regimen was not provided. The outcome was available in 178 cases (range of follow up between 3-97 months), showing 15 deaths of disease. Median survival based on available information in 28 patients was 82% (5-year survival). Table 1 legend: Demographics of genitourinary malignant melanoma cases.

Table 2 legend: Frequency of molecular alterations in genitourinary malignant melanoma.

Conclusion

Similarities in genetic signatures of mucosal and skin MM suggest similar mechanism of development; however, unlike skin melanoma, there is less BRAF mutation and more of PI3K/AKT/mTOR pathway alterations in mucosal MM. Prolonged administration of chemotherapy (i.e., methotrexate) and immune-modulating agents (i.e., natalizumab) may be a risk factor. In light of absence of a definite adjuvant therapy, tumor stage at the time of diagnosis and proper surgical removal have central role in the prognosis and survival of patients.
Two Cases of The Follicular Lymphoma of The Breast: An Exceedingly Rare Presentation
Authors: Kumar V , Sonani H , Patel T , Lam J
Published: October 2021

Introduction/Objective

The primary Non-Hodgkin lymphoma of the breast is a very rare entity, which comprises only less than 0.5% of all breast malignancies. The follicular lymphoma of the breast is still rarer as the most common type is diffuse large B cell lymphoma (DLBCL). We are reporting two cases of follicular lymphoma of the breast.

Methods/Case Report

Case 1: A 67-year-old female with a history of low-grade follicular lymphoma of the lacrimal gland and cervical lymph node was presented with 1.7 cm irregular soft tissue mass in the upper inner quadrant of left breast identified on CT scan. Microscopic examination showed diffuse infiltration of medium-sized lymphocytes with focal follicular architecture. These lymphocytes were positive for CD20, CD10, BCL2, BCL6, and Ki67 (10%); while negative for CD5, CD3, cyclin D1, and EBER. These findings are consistent with low-grade follicular lymphoma. Subsequently, a biopsy of the right breast mass revealed similar findings. The patient was followed up with a PET scan every six months and doing well.

Case 2: A 52-year-old female with a history of low-grade follicular lymphoma of the right hard/soft palate junction was presented with bilateral breast masses identified on mammography. The biopsy was performed and microscopic examination showed vaguely follicular architecture with small to medium-sized lymphocyte infiltration. The flow cytometric analysis revealed CD10 positive B cell population with kappa light chain restriction. Fluorescence in situ hybridization (FISH) analysis showed 96% of cells with BCL2 and BCL6 rearrangement. These findings were consistent with low-grade follicular lymphoma. The patient was started on chemotherapy with good outcomes.

Results (if a Case Study enter NA)

N/A

Conclusion

By reviewing two cases, we emphasize the rarity of follicular lymphoma in the breast. The most important differential diagnosis is extranodal marginal zone lymphoma and DLBCL. In absence of flow cytometric analysis FISH analysis for BCL-2 rearrangement or other molecular analysis is key to diagnose follicular lymphoma.
Unusual Case of Uterine Intravascular Leiomyomatosis with Lymphatic Spread to Pelvic Lymph Nodes
Authors: Siatecka H , Masand R
Published: October 2021

Introduction/Objective

Intravascular leiomyomatosis, also known as intravenous leiomyomatosis, is characterized by presence of smooth muscle within venous spaces in the myometrium, usually in conjunction with a leiomyoma. Although presence of tumor within lymphatics in addition to veins are alluded to in literature, exclusively lymphatic spread with lymph node metastases have not been previously reported.

Methods/Case Report

A 50-year-old woman presented with left flank pain. CT pelvis showed an enlarged uterus with multiple large leiomyomata as well as pelvic lymph node enlargement. Hysterectomy with bilateral salpingo- ophorectomy and pelvic lymph node dissection was performed. Gross examination revealed multifibroid uterus. Separately sent pelvic lymph nodes showed well-circumscribed, whorled lesions resembling leiomyoma. Microscopically, in addition to typical leiomyomata, a 11.5 cm intramural tumor with epithelioid cells, very rare mitoses and no necrosis was identified. Adjacent to this mass, several large endothelial lined spaces (positive for D240 and negative for CD31), consistent with lymphatics, showed intravascular extension of the same epithelioid tumor. All the pelvic lymph nodes were replaced by the tumor. Due to the unusual morphology and pattern of spread, immunohistochemical stains were performed to rule out an endometrial stromal sarcoma and lymphangioleiomyomatosis. The lesion was positive for desmin, caldesmon, and negative for CD10 and HMB45. Ki67 was extremely low (<1%). Based on morphology and immunophenotype, the tumor was consistent with an epithelioid leiomyoma with highly unusual lymphatic spread through myometrial vessels to regional lymph nodes.

Results (if a Case Study enter NA)

NA

Conclusion

Intravascular leiomyomatosis is a rare condition with no reported progression to malignancy. Typically, benign smooth muscle is present in veins within the myometrium of a leiomyomatous uterus with progressive spread to the right heart via the inferior vena cava. We present the first report of a rare case of intravascular leiomyomatosis with spread exclusively via lymphatics to pelvic lymph nodes.
Primary Malignant Melanoma of Vagina: A Clinicopathologic Analysis of 6 Cases
Authors: Xiang Y , Xu X G , Zhang X
Published: October 2021

Introduction/Objective

Primary malignant melanoma of vagina (PMMV) has a very high rate of recurrence and poor long-term survival. Less than 250 cases are reported in English literature to date, optimal treatments, risk factors, and prognostic predictors for PMMV are still subjects of debate. This study sought to evaluate the clinicopathologic features, initial management, and survival of 6 patients over 7 years follow-up in one institution.

Methods/Case Report

In this study, the clinical and pathologic features of 6 PMMV occurring in patients age 49 to 83 years were evaluated retrospectively. The mean age of the patients was 68.2 years, and all patients were postmenopausal women. At the time of diagnosis, all tumors were limited to the vagina.

Results (if a Case Study enter NA)

Vaginal bleeding, discharge and a tumor mass were the chief complaints. These patients were treated by pelvic exenteration, radical surgery and postoperative chemotherapy and/or radiotherapy. Follow-up was available in all patients ranging from 1 to 7 years. Two patients had metastases in other organs died at 16 and 34 months respectively. Two patients had distant recurrence at 1 to 2 years and are still alive. The other 2 patients have no evidence of disease over 2 years follow-up. Grossly, the tumors were mostly polypoid and ranged from 0.25 to 9.5 cm (mean, 5 cm) in maximum dimension. The depth of invasion ranged from 2.2 to 11 mm. A vertical growth phase was present in all tumors. S-100, HMB-45 and Melan-A were positive in 100% of cases tested. Depth of invasion, mitotic index of tumor cells, tumor size, age, menopausal status, pelvic lymph node metastasis and lymphocytic infiltration show no tendency towards progression-free survival. Patients with positive or indeterminate margin status demonstrated a higher risk of recurrence than did patients with negative margins. And adjuvant therapy was associated with progression-free survival.

Conclusion

In conclusion, PMMV is a rare disease, predominantly seen in women of postmenopausal age, and is associated with a poor prognosis. This study confirms S-100, HMB-45and Melan-A remains the most sensitive marker. Conventional predictors were of no prognostic value. Positive margin and adjuvant therapy were associated with progression-free survival. This report can facilitate the expansion of the phenotypic spectrum of gynecologic melanomas, and contribute to the prevention of misdiagnosis and inadequate treatment of PMMV.
Primary small cell neuroendocrine carcinoma of oropharynx: A potential diagnostic pitfall with Human papillomavirus (HPV)-related squamous cell carcinoma
Authors: Yang L , Hammad A , Abramovich C
Published: October 2021

Introduction/Objective

Small cell neuroendocrine carcinoma (SCNEC) primary to the head and neck region, especially from oropharynx, is very rare. Published data have shown that Human papillomavirus (HPV) positivity may be associated with a better overall survival in these tumors. Here we report a case of p16 positive SCNEC arising from the tonsil.

Methods/Case Report

A 51-year-old man with former smoking history was evaluated for sore throat and difficulty swallowing. Nasopharyngolaryngoscopy showed a left tonsillar mass and imaging revealed left jugular chain lymphadenopathy with no other evidence of a primary tumor elsewhere, including the lung. Biopsy of the mass was performed which revealed nested proliferation of uniform, hyperchromatic tumor cells with scant cytoplasm, indistinct nucleoli, areas of nuclear molding, and brisk mitotic activity. No keratinization was present, but a vague peripheral palisade was seen in some of the nests. The major differential diagnostic considerations included HPV-related nonkeratinizing squamous cell carcinoma, basaloid squamous cell carcinoma, and SCNEC. Immunohistochemistry revealed tumor cells were positive for AE1/AE3 with partial dot-like perinuclear pattern, cytokeratin 8/18, synaptophysin, and strong p16; negative for P40, P63, cytokeratin 5/6, cytokeratin 7, chromogranin, and CD56. Because SCNEC at any site may be positive for p16, testing for HPV RNA by in-situ hybridization was performed and showed negative for HPV subtypes 6, 11, 16, and 18.

Results (if a Case Study enter NA)

NA

Conclusion

This case highlights the differential diagnosis of a “basaloid” appearing carcinoma in the oropharynx. It also reinforces the fact that although p16 is considered a reliable surrogate marker for HPV infection in oropharyngeal squamous cell carcinoma, the same does not hold true for SCNEC.
A Challenging and Rare Case of Metastatic Follicular Dendritic Cell Sarcoma Originating from a Tonsil
Authors: Gallardo J , Watson E , Finch C J , Xu Y
Published: October 2021

Introduction/Objective

Follicular dendritic cell sarcoma (FDCS) is a rare malignant tumor of follicular dendritic cells. Most cases of FDCS are described in lymph nodes, but it can involve extra-nodal locations such as the tonsil.

Methods/Case Report

We report a case of a 55-year-old male with a 6-month history of a slow growing left neck mass. The patient had a poorly differentiated carcinoma of the left tonsil diagnosed based on morphologic features eight years ago, followed by chemoradiation, and subsequent left tonsillectomy without tumor identified. Imaging reported a 4.0 cm mass in the left neck level III lymph node location. Biopsy of the mass revealed a spindle cell neoplasm. It was difficult to reach a definitive diagnosis despite an extensive work-up. Review of the previous left tonsil biopsy showed a pleomorphic epithelioid cell proliferation. On the radical resection specimen of the left neck mass, a 4.5 cm, tan-gray, fleshy, necrotic mass was present. Microscopically, it demonstrated a neoplasm with spindle cell and epithelioid cell proliferation, with extensive necrosis. A wide panel of immunostains was performed; the tumor cells showed positivity for CD21, CD23, CD35, and focally weak positivity for cytokeratin OSCAR and Synaptophysin. Squamous cell markers were negative. These findings are consistent with FDCS. Further work-up on the original tonsil tumor displayed immunostaining profile of FDCS. This case was consulted with the National Institute of Health (NIH) for confirmation of the diagnosis.

Results (if a Case Study enter NA)

NA

Conclusion

Morphologically, FDCS can present with various histologic patterns, which can lead to diagnostic pitfalls, and common confusion with poorly differentiated carcinoma or soft tissue tumors, especially in needle biopsies. Generally, patients present with a prolonged clinical course, with a 50% and 25% chance of recurrence and metastasis respectively, hence the awareness and accurate diagnosis of this entity is important in biopsies of lymph nodes or of extranodal locations such as a tonsil.
A Diagnostic Pitfall in the Evaluation of CD138-Positive Plasmacytoid Cells in a Fine Needle Aspiration Biopsy
Authors: Ali H , Mai B , Wahed A , Nguyen A , Liu J , Zhu H
Published: October 2021

Introduction/Objective

The identification of plasmacytoid cells on rapid assessment leads to a wide range of differential diagnoses.

Methods/Case Report

We present a 51-year-old female with a parotid mass and cervical lymphadenopathy. The fine needle aspiration biopsy of the lymph node showed clusters of plasmacytoid cells. Flow cytometric studies showed cells positive for CD19, CD45, CD138 and kappa, but negative for CD38 and lambda. The kappa to lambda ratio was greater than 100. Histological sections showed plasmacytoid cells that were positive for AE1/AE3, S100, and SOX10, weakly positive for CK7 and GATA3, but negative for CD79a, CD45, EMA, p40, p63, and pan-melanoma markers. Kappa and lambda had a 1:1 ratio. Due to the discrepancy between the flow cytometric results and the immunohistochemistry, excision was recommended. The subsequent excision specimen showed classic morphology for myoepithelial carcinoma, plasmacytoid variant.

Results (if a Case Study enter NA)

NA

Conclusion

Myoepithelial carcinomas of the salivary glands are rare neoplasms, and they have various morphologies. The plasmacytoid variant can pose as a diagnostic pitfall. In fine needle aspiration biopsies, carcinoma cells with plasmacytoid morphology can be confused with a plasma cell neoplasm. CD138 is nonspecific marker, and it can be expressed in plasma cells as well as carcinomas. To further complicate matters, pancytokeratin and SOX10 can aberrantly expressed in some plasma cell myelomas. Flow cytometry studies is a valuable tool to define various cell types. However, it can be misleading if it is used as a sole source for interpreting plasmacytoid cells. Epithelial and myoepithelial neoplasms should be considered as differential diagnoses when CD138-positive plasmacytoid cells are encountered. Extended immunohistochemistry panel including multiple epithelial and myoepithelial markers play pivotal role in settling the diagnosis.
Mimics of carcinoma: pancytokeratin positive follicular dendritic cell sarcoma
Authors: Ricks E T , Hu Z
Published: October 2021

Introduction/Objective

Follicular dendritic cell sarcoma (FDC-S) is a malignant neoplasm of follicular dendritic cells that can present with variable morphology including epithelioid and spindle cell components. Given its morphological diversity, FDC-S can mimic neoplasms including poorly differentiated carcinomas. Here we present a rare case of FDC-S in which immunohistochemical staining for pancytokeratin was focally positive, potentially leading to an erroneous diagnosis if a full spectrum of immunohistochemical stains was not considered.

Methods/Case Report

A 34-year-old man presented with an enlarging left neck mass, night sweats and fatigue that began approximately three months ago. CT scan showed a 5.6 x 4.2 x 3.7 cm necrotic mass in the left upper lateral carotid space. Histologic examination of the incisional biopsy specimen demonstrated portions of soft tissue comprised of pleomorphic and plump spindle cells forming whorls with no discernable node architecture (Panels A-B). The tumor cells are large with oval nuclei, vesicular chromatin, distinct nucleoli, and a moderate amount of eosinophilic cytoplasm. Occasional binucleated and multinucleated tumor cells, rare tumor cells with nuclear pseudoinclusions and atypical mitotic figures, and focal necrosis are identified. Scattered small mature lymphocytes are present. By immunohistochemistry, tumor cells are positive for pancytokeratin (focal) (Panel C), CD21 (panel D), CD23 (panel E), D2-40 (panel F), CD35 and clusterin, and negative for CD3, CD20, CD30, CD45, ALK-1, EMA, PAX5, PDL1 and S100 stains. The overall morphology and immunostaining pattern are compatible with follicular dendritic cell (FDC) sarcoma.

Results (if a Case Study enter NA)

NA

Conclusion

FDC sarcoma rarely occurs as the solitary mass in the head and neck region. The unusual focal positivity for pancytokeratin highlights the importance of comprehensive immunohistochemistry stains to confirm the diagnosis of FDC sarcoma since this case is focally positive for pancytokeratin, mimicking other neoplasms such as poorly differentiated carcinomas
CD30+ Anaplastic Enteropathy-Associated T-cell Lymphoma Mimicking Crohn’s Disease
Authors: Harbert J L , Da Silva Lameira F , Beversdorf W , Bhalla R , Rinker E
Published: October 2021

Introduction/Objective

Enteropathy-associated T-cell lymphoma (EATL) is an aggressive peripheral T-cell lymphoma with a very poor prognosis. It is not uncommon for patients with EATL to present with intestinal obstruction or perforation, with the diagnosis made following surgical resection or autopsy. Although EATL is associated with celiac disease, this diagnosis may be made concomitant with EATL. The symptomology is often non-specific, particularly without a known history of celiac disease, and progression may be rapid.

Methods/Case Report

We describe the case of a 57 year old male who presented with several months of diarrhea, fatigue, night sweats, severe weight loss, and failure to thrive. Initial workup indicated positivity for Clostridium difficile and cryptosporidium, leading to antibiotic treatment. His symptoms persisted without significant improvement and a presumptive diagnosis of Crohn’s disease was made based on colonoscopy with biopsy and imaging that showed inflammatory changes with entero-enteric fistula formation. Further clinical decline necessitated exploratory laparotomy which revealed multiple enteric strictures, intra-loop abscesses, and necrotic ulceration necessitating segmental ileal resections. There was no associated lymphadenopathy.

Microscopically, there was a dense, polymorphic lymphoid population within the bowel wall with associated mucosal ulceration and abundant necrosis. Striking anaplastic cytomorphology was present, with a heavy intratumoral eosinophilic infiltrate. Neoplastic lymphocytes were CD3+, CD30+ T cells with a CD7+, CD5-, CD4-, CD8-, CD56-, ALK- immunophenotype. The adjacent intestinal mucosa showed features of celiac disease (villous atrophy, intraepithelial lymphocytosis).

Results (if a Case Study enter NA)

NA

Conclusion

The prominent anaplastic morphology in combination with strong, diffuse CD30 expression prompted consideration of other T cell lymphomas, including anaplastic large cell lymphoma and peripheral T cell lymphoma, NOS, within the differential. The presence of coexisting histologic changes of celiac disease, dense eosinophilic infiltrate, and absence of lymphadenopathy were clues to the correct diagnosis. Notably, the frequency of CD30 expression in EATL is variable but common among cases manifesting large cell morphology.
The Practicality of Viscoelastic Testing in Acute Hemorrhage to Guide Appropriate Transfusion Management
Authors: Weng K
Published: October 2021

Introduction/Objective

Acute hemorrhage often leads to multiple blood product transfusions and warrants efficient and dependable laboratory tests to elucidate the etiology for appropriate transfusion management. Conventional coagulation tests (aPPT, PT, INR, platelet count, fibrinogen) are inexpensive and have minimal labor requirements, but have slow turnaround times and may not accurately represent in vivo coagulopathies leading to inappropriate use of transfusion products, which in turn may lead to increased adverse events and mortality. Viscoelastic testing (VET) overcomes some of the disadvantages of conventional coagulation tests, but is not without its own limitations. This case study will summarize the advantages and disadvantages of VET by presenting two cases to highlight clinical situations in which VET is used and its impact on guiding management and clinical outcomes.

Methods/Case Report

We present 2 cases of acute hemorrhage to illustrate the importance of correct interpretation of VET in the appropriate clinical setting. Case 1 features a clinical situations in which TEG was misinterpreted due to lack of communication with the laboratory while Case 2 presents an acute hemorrhage situation in which Rapid TEG was used to guide transfusion strategy. While VET has many advantages in acute hemorrhage, clinicians must be aware of the disadvantages and the potential for misinterpretation of data.

Results (if a Case Study enter NA)

NA

Conclusion

VET is useful in acute hemorrhage if its functionality is understood and interpretation is correct. Appropriate use of VET may lead to effective transfusion management and improve clinical outcomes. However, it is imperative clinicians are aware of the limitations of VET when making clinical decisions. VET can only improve patient outcomes if it is used in the proper clinical situation and with proper interpretation of the data. Appropriate use of VET has the potential to improve transfusion management and ultimately lead to better patient outcomes.
Acquired Glanzmann Thrombasthenia in a Pediatric Patient with Alagille Syndrome
Authors: Cox C A , Hastings H
Published: October 2021

Introduction/Objective

Acquired Glanzmann Thrombasthenia is a rare bleeding disorder that is characterized by inhibition of glycoprotein IIb/IIIa signaling, usually by an autoantibody, leading to an interference in platelet aggregation. Clinically, this disorder presents with spontaneous mucocutaneous bleeding in the setting of a normal platelet count. Acquired Glanzmann Thrombasthenia has been associated with primary immune thrombocytopenic purpura (ITP), several types of hematologic and solid malignancies, solid organ transplants, and other autoimmune disorders.

Methods/Case Report

A 4-year-old female patient with a history of Alagille Syndrome requiring liver transplant at age 3 was admitted to the hospital after presenting to the emergency department with complaints of bruising, nosebleeds, and a petechial rash. The patient was found to have a platelet count of 11 K/mm3 and was diagnosed with ITP. The patient received a single dose of IVIG at 1g/kg with subsequent resolution of bleeding and a recovering platelet count of 27 K/mm3 12 hours after administration. However, two months later, the patient presented again with worsening bruising, multiple nosebleeds per day, and worsening petechiae. Lab studies revealed the patient’s platelet count was within normal limits. A platelet antibody screen was positive with a subsequent Platelet Antibody Bead Array revealing anti-Gp IIb/IIIa HPA-1 and HPA-3 positivity.

Results (if a Case Study enter NA)

N/A

Conclusion

Acquired Glanzmann Thrombasthenia is a rare bleeding disorder that is the result of interference with platelet aggregation. Antibodies that may be associated with any of several underlying conditions lead to impaired platelet function and subsequent mucocutaneous bleeding. The present case represents an occurrence of Acquired Glanzmann Thrombasthenia in a patient with multiple risk factors for development of the disorder.
Machine learning based decipherment of Cell Population Data: a promising hospital front-door screening tool for COVID-19
Authors: Haider R , Shamsi T S , Khan N A
Published: October 2021

Introduction/Objective

Key challenges against early diagnosis of COVID-19 are its symptoms sharing nature and prolong SARS-CoV-2 PCR turnaround time. Hither machine learning (ML) tools experienced by routinely generated clinical data; potentially grant early prediction.

Methods/Case Report

Routine and earlier diagnostic data along demographic information were extracted for total of 21,672 subsequent presentations. Along conventional statistics, multilayer perceptron (MLP) and radial basis function (RBF) were applied to predict COVID-19 from pre-pandemic control. Three feature sets were prepared, and performance evaluated through stratified 10-fold cross validation. With differing predominance of COVID-19, multiple test sets were created and predictive efficiency was evaluated to simulate real-fashion performance against fluctuating course of pandemic. Models validation was also inducted in prospective manner on independent dataset, equating framework forecasting to conclusions from PCR.

Results (if a Case Study enter NA)

RBF model attained superior cross entropy error 20.761(7.883) and 20.782(3.991) for Q-Flags and Routine Items respectively while MLP outperformed for cell population data (CPD) parameters with value of 6.968(1.259) for ‘training(testing)’. Our CPD driven MLP framework in challenge of lower (<5%) COVID-19 predominance affords greater negative predictive values (NPV >99%). Higher accuracy (%correct 92.5) was offered during prospective validation using independent dataset. Sensitivity analysis advances illusive accuracy (%correct 94.1) and NPV (96.9%). LY-WZ, Blasts/Abn Lympho?, ‘HGB Interf?’, and ‘RBC Agglutination?’ are among novel enlightening study attributes.

Conclusion

CPD driven ML tools offer efficient screening of COVID-19 patients at presentation to hospital to backing early expulsion and directing patients’ flow-from amid the initial presentation to hospital.
Unique case of 19p13 syndrome with storage pool disease
Authors: Liaquat S , Riley R , Massey G , Gunning W T
Published: October 2021

Introduction/Objective

Microdeletion of a region of the short arm of chromosome 19 results in a very rare syndrome called 19p13.3 deletion syndrome, which manifest itself in developmental delay as well as structural abnormalities such as facial dysmorphism and macrocephaly.

Methods/Case Report

We present a case of 14-month-old patient, born at term and was large for her gestational age. She had dysmorphic facial features including posterior cleft palate for which, she required placement of G-tube. Post-delivery, she experienced respiratory distress as well as hypoglycemic episodes. Over the period of time, her mother also noticed occasional bleeding through her gums with teething. Genetic workup was performed, which revealed 2.4 Mb of microdeletion at chromosome 19 region p13.3, including deletion of PIAS4, MAP2K2, GNA11, TBXA2R, RAX2 genes. TBXA2R mutation is associated with bleeding disorder due to a defect in platelet aggregation. The mutation in TBXA2R can lead to platelet type 13 bleeding disorder. For this purpose, a platelet aggregation study was performed to evaluate platelet function disorders. However, the result of the platelet aggregation study was inconclusive as it showed decrease responses to all agonists including arachidonic acid, epinephrine, ADP, collagen and ristocetin. Further work-up by electron microscopy (EM) of platelets (PL) revealed a significant decrease of delta granules (DG) (0.89 DG/PL, normal 4-6 DG/PL), consistent with delta granule storage pool deficiency (δ-SPD). Other abnormalities observed by EM included occasional gray platelets, platelets with immature and/or decreased numbers of α-granules, and rare giant α-granules.

Results (if a Case Study enter NA)

NA

Conclusion

To the best of our knowledge, no other case of 19p13.3 microdeletion syndrome with δ-SPD and associated abnormalities in α-granules has previously been described in the literature. Although it is unclear if there is any relationship between δ-SPD and 19p13.3 deletion syndrome, further investigation is warranted.
Anemia prevalence in mothers with children under five years of age in Dodi Papase, Volta region of Ghana and preventive practices
Authors: Sanyaolu A , Dzando G , Okorie C , Jaferi U , Marinkovic A , Prakash S , Patidar R , Desai P , Younis K
Published: October 2021

Introduction/Objective

Sociodemographic factors influence the prevalence of anemia in endemic areas. The purpose of this study is to establish the prevalence and causes of anemia and to determine anemia preventive practices carried out by mothers with children under five years of age in the Kadjebi District of the Volta region of Ghana.

Methods/Case Report

This homogenous sampling study involved women of reproductive age with children less than five years of age from Saint Mary Theresa Hospital. Interview guides were administered, and the data collected were analyzed using the Statistical Package for Social Sciences (SPSS) version 21.

Results (if a Case Study enter NA)

A total of 150 participants were studied. 52.7% of the mothers indicated that their children had never been diagnosed with anemia; however, Hb levels recorded for these children showed that 73.3% were anemic, even though 93.8% of the mothers had been given iron supplements during their pregnancy. Furthermore, anemia prevention practices comprised of whether the child had been given any anti-malaria prophylaxis (98.4% denied / 1.6% confirmed) if the child had been dewormed in the last three months (89.9% denied / 10.1% confirmed), whether the child was given iron supplements in the last three months (59.7% denied / 40.3% confirmed), if the child had been given vitamin supplements in the last three months (24.0% denied / 76.0% confirmed).

Conclusion

Nutritional deficiencies, worm infestation, and malaria were identified as the major causes of anemia among the children. Mothers were educated about the possible causes and prevention methods of anemia.
Using digital pathology in competency based case scenarios as an efficient pathology learning platform
Authors: Saxena R , Ejutse T , Salzle M , Carnevale K
Published: October 2021

Introduction/Objective

Case-based learning has been utilized for implementation in learning pathological and clinical features of diseases in an integrated, facile manner for some time now. We applied certain novel technological advances to improve case-based learning - short clinical vignettes describing all pertinent pathologic features with the help of digital pathology images - including both negative and positive findings. The clinical cases combined with digital pathological and radiological images and labs were uploaded on Moodle platform for student access, to be followed later by an online interactive discussion via Zoom.

Methods/Case Report

Clinical cases meticulously woven with digital pathological and radiological images and labs were centralized on 3 fundamental competencies – disease processes, systemic pathology and diagnostic & therapeutic pathology. This was followed by corresponding Q-A session using the “breakout room” feature of Zoom to form a differential diagnosis, reach a final diagnosis and discuss appropriate management options. Students exited the breakout rooms after individual groupwork to return to the main Zoom session for final discussion. Novel web- based tools, social media assistance, and other online resources were utilized to enhance the online learning experience.

Results (if a Case Study enter NA)

Student feedback confirmed that our online instructional methodology was incredibly stimulatory, particularly in topics that were difficult to grasp using traditional pedagogical methods. Summative and formative assessments indicated performance gain, enhanced motivation, improved critical thinking and evolved ability to solve clinical cases. Drawbacks included irregular student participation, lack of face-to-face interaction, network issues and time differences.

Conclusion

Our pathology pedagogy provides flexibility and self-directed learning skills, while simultaneously covering the geographical limitations. This not only helps students in developing critical clinical reasoning, but also enables them to acquire life-long learning and problem-solving skills. The technique proved to be a powerful educational tool that facilitated an interactive learning experience beyond the classroom setting, with integration of multidisciplinary aspects in learning Pathology. Additionally, the communication competency was also covered during case discussion among students, promoting literary, verbal and team-working capabilities.
DOG1 expression is in common human tumors: A tissue microarray study on more than 15,000 tissue samples
Authors: Jansen K , Steurer S
Published: October 2021

Introduction/Objective

Introduction: DOG1 (Discovered on GIST1) is a voltage-gated calcium-activated chloride and bicarbonate channel that is highly expressed in interstitial cells of Cajal and in gastrointestinal stromal tumors (GIST) derived from Cajal cells.

Methods/Case Report

Methods: To systematically determine in what tumor entities and normal tissue types DOG1 may be further expressed, a tissue microarray (TMA) containing 15,965 samples from 121 different tumor types and subtypes as well as 608 samples of 76 different normal tissue types was analyzed by immunohistochemistry.

Results (if a Case Study enter NA)

Results: DOG1 immunostaining was found in 67 tumor types including GIST (95.7%), esophageal squamous cell carcinoma (31.9%), pancreatic ductal adenocarcinoma (33.6%), adenocarcinoma of the Papilla Vateri (20%), squamous cell carcinoma of the vulva (15.8%) and the oral cavity (15.3%), mucinous ovarian cancer (15.3%), esophageal adenocarcinoma (12.5%), endometrioid endometrial cancer (12.1%), neuroendocrine carcinoma of the colon (11.1%) and diffuse gastric adenocarcinoma (11%). Low level-DOG1 immunostaining was seen in 17 additional tumor entities. DOG1 expression was unrelated to histopathological parameters of tumor aggressiveness and/or patient prognosis in cancers of the breast (n=1,002), urinary bladder (975), ovary (469), endometrium (173), stomach (233), and thyroid gland (512).

Conclusion

High DOG1 expression was linked to estrogen receptor expression in breast cancer (p<0.0001) and absence of HPV infection in squamous cell carcinomas (p=0.0008). In conclusion, our data identify several tumor entities that can show DOG1 expression levels at similar levels as in GIST. Although DOG1 is tightly linked to a diagnosis of GIST in spindle cell tumors, the differential diagnosis is much broader in DOG1 positive epithelioid neoplasms.