bluuebunny/crossref_metadata_2025_split huggingface dataset:
Microcystic Stromal Tumor of the Ovary: A Case Report With Unique Histologic Features
Authors: Derakhshandeh Roshanak , Newsom Jonathan , Mneimneh Wadad , Carter Elliot 
Published: September 2019

Abstract

Objectives
Microcystic stromal tumor (MST) of the ovary is an extremely rare subtype of sex cord-stromal ovarian tumor with characteristic microcystic features and stromal tumor immunophenotype. First described as a distinct ovarian neoplasm in 2009, fewer than 30 cases of MST have been reported worldwide.

Methods
We present a 65-year-old patient who underwent a hysterectomy and bilateral salpingo-oophorectomy for endometrial carcinoma and an enlarged right ovary detected by an abdominal CT scan.

Results
Grossly, the 3.6-cm ovarian mass had a smooth, firm external surface and clear demarcation from the adjacent ovarian parenchyma. Sectioning of the mass revealed solid, tan-white cut surfaces. The gross appearance of the contralateral ovary was unremarkable. Microscopic examination of the hysterectomy specimen confirmed FIGO grade 1 endometrial adenocarcinoma, endometrioid type. Stromal hyperthecosis was present in both ovaries. Unique to our case, the ovarian mass was composed of a prominent hyalinized fibrous stroma with occasional scattered nodules of small to medium cells with vacuolated cytoplasm, bland chromatin, inconspicuous nucleoli, and sparse mitotic activity. Characteristic microcystic spaces were present. The cells within these microcystic nodules were positive for β-catenin (nuclear), CD10 (membranous), and cyclin D1 (nuclear). Immunohistochemical stains for calretinin, CD56, CD99, cytokeratin AE1/AE3, EMA, inhibin, and WT-1 were negative.

Conclusion
The combined histologic and immunohistochemical properties of this tumor are most consistent with MST of the ovary. While the clinical behavior of this new entity appears to be benign, reported cases are limited and further investigation is needed. This report highlights a histologically unique case of MST of the ovary.
Tumor-Infiltrating Lymphocytes and Programmed Death-Ligand 1 Expression in Salivary Duct Carcinoma
Authors: Chatzopoulos Kyriakos , Collins Andrea , Garcia Joaquin 
Published: September 2019

Abstract

Objectives
Salivary duct carcinoma is a rare high-grade salivary gland tumor, sharing common features with invasive ductal carcinoma of the breast—particularly apocrine type. Increased density of tumor-infiltrating lymphocytes (TILs) is a favorable prognostic factor in many solid tumors and has been correlated with elevated expression of programmed death-ligand 1 (PD-L1), a targetable molecule. We investigated the prognostic role of TILs and PD-L1 expression in salivary duct carcinoma.

Methods
Clinical records and archived surgical pathology material were evaluated from 28 patients with a diagnosis of salivary duct carcinoma at Mayo Clinic Rochester (between 1961 and 2007). TILs were evaluated on hematoxylin and eosin–stained slides and reported as continuous variables. Immunohistochemistry for PD-L1 (clone 22C3) was performed on unstained slides and evaluated using the Combined Positive Score (CPS). Fisher’s exact test was used to assess frequency distribution differences. Log-rank test and Cox proportional hazards model were used to assess the impact of the variables on survival.

Results
Twenty-eight patients had salivary duct carcinoma (age range 35-87, mean 61), and follow-up averaged 60 months (range 6-252 months). At the end of the follow-up period, 22 patients (79%) had died of salivary duct carcinoma, while remaining patients were alive (4.14%) or had died of other causes (2.7%). For the entire follow-up period, levels of TILs of 40% or more were associated with favorable overall survival (log-rank test, P = .01) and were predictors of better survival in univariate analysis (hazard ratio: 0.18, P = .02). PD-L1 expression was not significantly different between the high and low TIL groups (Fisher’s exact test, P = .67). Survival analysis regarding PD-L1 expression did not yield statistically significant results (log-rank test, P = .74; hazard ratio: 0.87, P = .74).

Conclusion
High TIL levels, but not PD-L1 expression as determined using the CPS, predict better survival in patients with salivary duct carcinoma.
Primary Smooth Muscle Tumor of Breast: An Unusual Case Presentation
Authors: Liu S Shawn , Patel Krutika , Dyess Donna Lynn , Kahn Andrea 
Published: September 2019

Abstract

Introduction
Primary smooth muscle tumors (SMT) of the breast are rare with leiomyosarcomas representing less than 0.1% of all malignant breast tumors.

Case Presentation
A 58-year-old female with no significant past medical history noted on screening mammography to have a circumscribed 6-mm nodule in the right breast, upper outer quadrant. Core needle biopsy showed a spindle cell neoplasm with smooth muscle differentiation. The excisional biopsy showed a 6-mm lesion composed of atypical hyperchromatic spindle cells in fascicles, marked nuclear pleomorphism, and 5 mitoses per 10 high-power fields. By immunohistochemistry, the spindle cells were positive for smooth muscle actin, desmin, and negative for S-100 and cytokeratin AE1/AE3. Positron emission tomography/computed tomography of head/neck, chest, abdomen, and pelvis did not identify other neoplasms. Despite the lesion size, findings were supportive of a leiomyosarcoma.

Discussion
Breast SMTs have nonspecific clinical or imaging features. Histologically, these present as spindle cell tumors with smooth muscle differentiation. Initial workup starts with distinction between benign and malignant neoplasms. The malignant SMTs are usually large tumors with cytologic atypia and mitotic activity used as diagnostic criteria. In addition, the distinction between primary and metastasis is important and frequently relies on clinical history and exclusion of other primary origins by radiographic survey. In the current case, although the tumor size is unusually small, the histological features and absence of other primary malignancies support the diagnosis of a leiomyosarcoma.

Conclusion
Primary leiomyosarcoma of breast is extremely uncommon with less than 70 cases reported in the literature. Although they are usually large tumors, this diagnosis should be included in the differential diagnosis when smooth muscle differentiation, significant atypia, and mitoses are encountered in a spindle cell tumor of the breast.
Lipomatous Metaplasia of the Thyroid Gland: A Clinicopathologic Review
Authors: Solarewicz Joanna , Reddy Vijaya , Bitterman Pincas , Ghai Ritu , Gattuso Paolo 
Published: September 2019

Abstract

Objectives
Lipomatous metaplasia involving the thyroid gland is uncommon in surgical pathology and the majority of published literature is confined to single case reports. We undertook a retrospective study to assess the frequency of fat metaplasia among benign and neoplastic thyroid lesions.

Methods
Surgical pathology files from 1992 to 2018 at our institution were searched for lipomatous metaplasia involving the thyroid gland. A total of 2,018 cases of thyroid lesions after lobectomy or total thyroidectomy with or without regional lymph node sampling were identified. Patient clinical and pathologic data were reviewed.

Results
The 2,018 thyroid cases reviewed included 828 papillary carcinomas, 33 medullary carcinomas, 26 anaplastic carcinomas, 25 follicular carcinomas, 262 follicular adenomas, 422 goiters, 373 Hashimoto thyroiditis, and 49 Grave disease. Lipomatous metaplasia was recorded in 17 cases (0.8%), which included 8 males and 9 females with a mean age of 67 years (range: 55 to 82). The most common lesion containing fat metaplasia was goiter (7/422 cases, 1.7%), followed by follicular adenoma (4/262, 1.5%), papillary carcinoma (4/828, 0.5%), Hashimoto thyroiditis (1/373, 0.3%), and Grave disease (1/49, 2%). When associated with papillary carcinoma, lipomatous metaplasia was located in the surrounding benign thyroid tissue in 2/4 cases and in malignant papillary structures metastatic to neck lymph nodes in the remaining 2/4 cases.

Conclusion
Lipomatous metaplasia of the thyroid gland is a rare phenomenon, present in only 17/2,018 cases (0.8%) in our study. It was more commonly seen in reactive processes (9/844 cases, 1.1%) and follicular adenomas (4/262 cases, 1.5%). Among the 912 cases of malignant tumors, fat metaplasia was only identified in papillary carcinoma (4/828, 0.5%), half of which showed metaplasia at the metastatic site. The presence of lipomatous metaplasia in reactive as well as neoplastic lesions cannot be used as a reliable histologic feature to exclude a neoplastic process.
A Rare Case of Hermansky-Pudlak Syndrome Involving Bilateral Lung: Histopathologic and Electron Microscopic Findings
Authors: Basu Atreyee , Seshan Surya , Angel Luis , Moreira Andre , Zhou Fang 
Published: September 2019

Abstract

Introduction
Hermansky-Pudlak syndrome (HPS) is a rare autosomal recessive hereditary disorder characterized by oculocutaneous albinism and bleeding diathesis. Transplantation is often conducted to treat lung fibrosis, which is the most fatal complication of this disease. While the literature discusses the diagnosis of HPS based on genetic testing, radiology, and electron microscopic (EM) findings of platelet granules, there is a paucity of images in the literature illustrating the pulmonary histopathologic and EM features of HPS.

Case Report
Here we present striking histopathologic and EM images from a case of pulmonary fibrosis due to HPS in a 48-year-old female. The patient presented with restrictive lung disease and bilateral decreased breath sounds with diffuse crackles. She was clinically diagnosed with HPS and underwent bilateral lung transplant. On histopathology, both pneumonectomy specimens showed diffuse interstitial fibrosing and cellular pneumonitis with end-stage remodeling and type II pneumocyte (PC-II) hyperplasia. The PC-IIs had abundant foamy cytoplasm and compressed scalloped nuclei. Alveolar macrophages contained fine brown granules positive for PAS-D stain. EM analysis revealed that the PC-IIs contained numerous lamellated myelin bodies (so-called giant lamellar body degeneration) suggestive of surfactant admixed with lipid and luminal microvilli. The pigmented alveolar macrophages also contained lamellated myelin bodies, as well as clusters of single membrane-bound structures with varying size and electron density admixed with vacuolar and granular debris suggestive of ceroid deposits.

Conclusion
Based on light microscopy, histochemical analysis, EM, and clinical presentation, it was concluded that our findings were consistent with pulmonary changes as seen in HPS.
A Rare Epithelioid Sarcoma of the Jaw Mimicking Pleomorphic Rhabdomyosarcoma: Case Report and Literature Review
Authors: Brown Tupokigwe , Mlaga Salvatory , Vuhahula Edda 
Published: September 2019

Abstract

Background
Epithelioid sarcoma, a rare soft tissue malignancy, is clinically aggressive and commonly affects distal extremities. Proximal, fibroma-like, and angiomatoid variants are lightly outlined. The proximal variant is the most aggressive, composed of larger cells and rhabdoid features, characteristically captivating one’s attention to rhabdomyosarcoma. We present a rare epithelioid sarcoma that histologically mimicked pleomorphic rhabdomyosarcoma of jaw in a 31-year-old male.

Objectives
To discuss histopathological features of epithelioid sarcoma of rhabdoid features, distinguishing it from other histological mimics like rhabdomyosarcoma.

Methods
A 31-year-old male was admitted at Muhimbili National Hospital in October 2017 with a 4-month history of slow-growing tender ulcer on the lower right jaw and right-side facial swelling. Clinical impression was squamous cell carcinoma with differential of adenocarcinoma. Various laboratory investigations, imaging, routine staining, and immunohistochemistry were performed.

Results
CT scan revealed a heterogenous mass in the right submandibular region. Initial examination from incision biopsy showed large oval pleomorphic tumor cells with enlarged vesicular nuclei and abnormal mitoses. Wide excision biopsy followed after conclusion of poorly differentiated carcinoma. Its examination revealed a diffuse, nodular tumor with large, polygonal, round, spindle cells displaying abundant deeply eosinophilic cytoplasm, sometimes showing eccentric vesicular nuclei. Rhabdoid features were observed. Immunohistochemistry revealed strong positivity for wide-spectrum cytokeratin, vimentin, and CD99 and was negative for EMA and myogenin.

Conclusion
Morphology by routine stains suggested both epithelial and mesenchymal malignancy. Cells with rhabdoid features suggested pleomorphic rhabdomyosarcoma with differential of epithelioid sarcoma. Cytokeratin, vimentin, and CD99 confirmed the diagnosis of epithelioid sarcoma, proximal variant. This case adds information on this rare entity emphasizing application of diagnostic immunohistochemistry procedures in the platform for confirmation of diagnosis to assist in proper patient management.
Leiomyosarcoma: A Rare Tumor of the Vulva
Authors: Sameeta Fnu , Haque Monira , Akbar Shalla , Zotto Valeria Dal , Kahn Andrea 
Published: September 2019

Abstract

Objective
Primary sarcomas of the vulva are very rare malignancies, accounting for 1% to 3% of all gynecologic sarcomas. Leiomyosarcoma is the most common histologic type. They present with nonspecific symptoms, aggressive behavior, and high metastatic potential.

Methods
A 63-year-old female patient presented with a 6-month history of a slow-growing, painless vulvar mass at the right posterior fourchette. CT scan revealed an asymmetric, heterogeneous vulvar mass extending to the distal vagina, without lymphadenopathy or evidence of distant metastasis. Focal prominence of the uterus suggestive of leiomyoma was also noted, but primary uterine neoplasm with vulvar metastasis could not be excluded. The patient underwent wide local excision of the vulvar mass with hysterectomy and bilateral salpingo-oophorectomy.

Results
Gross examination of the vulvar specimen showed an ulcerated 2.1-cm solid white mass with irregular borders. Microscopically, the vulvar tumor consisted of a focally infiltrative spindle and pleomorphic neoplastic proliferation with interlacing fascicular pattern and increased mitotic activity up to 25/10 HPF, without necrosis or lymphovascular invasion. The tumor focally extended to resection margins. Immunohistochemically, the neoplastic cells were positive for SMA, ER, and desmin and negative for S-100 and cytokeratin AE1/AE3. These findings, in conjunction with the clinical presentation, were consistent with high-grade primary vulvar leiomyosarcoma. Radiation therapy was subsequently started.

Conclusion
Primary vulvar leiomyosarcomas are rare and secondary involvement by uterine primary should always be ruled out. In addition, these tumors can be mistaken clinically as benign processes such as Bartholin gland cysts, infectious granuloma, fibroma, or myoma. Hence, it is vital to consider vulvar sarcomas in the differential diagnosis of nonspecific vulvar lesions in order to avoid delay in diagnosis and treatment. The rarity of this diagnosis makes this case worth reporting.
Primary Mucinous Adenocarcinoma: The Critical Role of Morphology in a Rare Neoplasm
Authors: Williams Michael , de la Roza Gustavo 
Published: September 2019

Abstract

Objectives
Primary mucinous adenocarcinoma of the skin is a rare clinical entity derived primarily from sweat glands with reported sites mainly arising from the head and neck region. Difficulty then arises with distinguishing between these primary neoplasms and those with similar morphology in the breast and/or gastrointestinal tract.

Presentation of Case
We report a case of an 85-year-old female with a past medical history of endometrial cancer presenting to clinic with a slow-growing right temporal lesion that was excised and diagnosed as primary mucinous adenocarcinoma. Further clinical workup and imaging revealed an oral lesion diagnosed as squamous cell carcinoma after excision along with an enhancing right breast mass with biopsy and excision showing an invasive ductal carcinoma with papillary and micropapillary features. This unusual presentation of more than two malignancies provides a challenge to differentiate between primary versus metastatic disease, especially with a rare malignancy that is present.

Discussion
A review of the literature on primary mucinous adenocarcinoma of the skin is presented, discussing epidemiology, clinical presentation, morphology, and immunohistochemistry sets historically studied to aid in diagnosis, with our case relying on morphology to finalize our diagnosis.

Conclusion
This unusual case highlights the difficulty in differentiating between primary versus metastatic mucinous adenocarcinoma yet highlights the value of morphology to aid in arriving at a diagnosis to help guide correct clinical treatment and follow-up.
Characterization of an Unusually Aggressive Ovarian Malignant Sex Cord Stromal Tumor in an Adolescent Female With Peutz-Jeghers Syndrome
Authors: Benzi Eduardo , Patil Ninad 
Published: September 2019

Abstract
Peutz-Jeghers syndrome (PJS) is a rare autosomal dominant disorder with mutations in SKT11 (19p13.3), mucocutaneous hyperpigmentation, gastrointestinal hamartomatous polyposis, and increased cancer predisposition. A PJS-associated distinctive ovarian tumor is sex cord tumor with annular tubules (SCTAT), which is multifocal, microscopic, bilateral, and almost always clinically benign. Non-SCTAT ovarian tumors with malignant behavior are exceptionally rare. We describe a malignant, multiply recurrent, widely metastatic sex cord stromal tumor in PJS.
Case Report: A 17-year-old female presented with new complaints of unintentional weight loss, alopecia, and abdominal fullness. She had a PJS diagnosis at age 7 with mucocutaneous pigmentation, gastrointestinal polyposis, and STK11 mutation. CT showed a 23-cm abdominopelvic mass with diffuse peritoneal metastases and malignant pleural effusion. CA-125 was elevated. CEA, CA 19-9, β-hCG, AFP, and LDH were normal. Laparoscopic biopsy pathology revealed a tumor composed of sheets and loose aggregates of mitotic spindled and round heterogenous eosinophilic and basophilic cells within fibromyxoid stroma. Rare tubules with eosinophilic cytoplasm and focal foamy cells were also seen. IHC was significant for inhibin, calretinin, CD56 and WT1 positivity, and cytokeratin and EMA negativity, consistent with poorly differentiated sex cord stromal tumor. Interestingly, EM showed neurosecretory dense core granules and neurite-like processes. After neoadjuvant therapy, the resected left adnexal mass was 25.5 cm, purple-gray/tan-red, heterogeneous, diffusely cystic, diffusely edematous, rubbery to spongy. In the left ovary were also found unassociated microscopic SCTAT foci. During adjuvant chemotherapy, the patient became pregnant. During the pregnancy, the patient developed liver and pelvic peritoneal recurrence and continued altered chemotherapy. She delivered a healthy late-preterm infant but also concurrently had diffuse peritoneal recurrence. She underwent two more cycles of adjuvant chemotherapy. Approximately 2 years after finishing adjuvant chemotherapy, she again developed peritoneal recurrences, which were resected, and partial chemotherapy response was seen on pathology. She is currently undergoing additional chemotherapy cycles 4 years since the initial diagnosis.
Lymphangioleiomyomatosis and Micronodular Pneumocyte Hyperplasia in a Patient With Tuberous Sclerosis Complex
Authors: Peter An , Aneja Amandeep 
Published: September 2019

Abstract
Lymphangioleiomyomatosis (LAM) is a rare progressive disease characterized by proliferation of smooth muscle–like cells in the lung, mediastinum, and abdomen. In the lung, it is seen with cystic destruction of the lung parenchyma, which occurs almost exclusively in premenopausal women. It occurs in about 1% of patients with tuberous sclerosis complex (TSC). MNPH is an extremely rare pulmonary manifestation of TSC, comprising type 2 pneumocytes in a pattern resembling bronchioloalveolar adenocarcinoma. We report a case of both pulmonary LAM and MNPH associated with TSC. A 35-year-old female with a past medical history of TSC with multiple complications was admitted with iatrogenic pneumothorax following nasopharyngeal intubation during a dental procedure. A blebectomy with wedge resection and mechanical pleurodesis was performed. On gross examination, the wedge specimens revealed multiple cysts in a random distribution. Microscopic examination of the lung parenchyma revealed prominent smooth muscle cells with focal nodule formation. Immunohistochemical stains for SMA and HMB-45 were found to be positive and corroborated these findings. Areas of localized nodular proliferation of benign cuboidal type II pneumocytes lining alveolar walls were also identified. These findings are consistent with LAM and MNPH. Clinicopathological correlation with surgical investigation is indispensable in diagnosing LAM and MNPH, especially when radiologic findings are not definitive in these entities.
How Does Noninvasive Follicular Thyroid Neoplasm With Papillary-Like Nuclear Features (NIFTP) Compare to Encapsulated and Nonencapsulated Follicular Variants of Papillary Thyroid Carcinoma? An Examination Into Next-Generation Sequencing Molecular Profiles
Authors: Serrano Antonio , Sun Wei , Liu Cheng , Simsir Aylin , Cangiarella Joan , Brandler Tamar 
Published: September 2019

Abstract

Objectives
With the removal of noninvasive follicular thyroid neoplasm with papillary-like nuclear features (NIFTP) from the follicular variant of papillary thyroid carcinoma (FVPTC) categorization, the question arises as to how the molecular profile of invasive encapsulated FVPTC (IEFVPTC) compares with NIFTP. Our study aimed to examine the molecular alterations associated with NIFTP, IEFVPTC, and infiltrative FVPTC (iFVPTC) to determine whether these entities are actually distinct at the molecular level.

Methods
Forty-five NIFTP cases, 12 IEFVPTC cases, and 8 iFVPTC cases from 1/2013 to 8/2016 were assessed for presurgical fine-needle aspiration ThyroSeq V2 next-generation sequencing results.

Results
The NIFTP cases displayed alterations in BRAF K601E/EIF1AX, BRAF T599_R603, NRAS x15 (two with additional PTEN and one with P53), KRAS x3, HRAS x11 (one with an additional TERT/EIF1AX), PAX8-PPARgamma x5, PTEN, THADA x3, MET x2, copy number alteration, EF1AX, and DICER1. The IEFVPTC displayed alterations in RAS x5 (1 NRAS/TERT, 2 HRAS, 2 NRAS), BRAF-K601E x2, and BRAF-pG469A with gene expression profile; PAX8-PPARgamma x2; THADA-IGF2BP3; and ETV6/NTRK3. The iFVPTC cases displayed alterations in RAS x2 (NRAS and HRAS), TERT x2, BRAF-V600E mutation, ALK, MET, and NTRK3.

Conclusion
NIFTP and IEFVPTC cases most commonly displayed RAS mutations (64.4% and 41.7%, respectively) and lacked aggressive BRAF-V600E mutations, whereas iFVPTC harbored aggressive mutations such as BRAF-V600E and TERT more commonly, with fewer RAS mutations. The possibility of NIFTP and IEFVPTC being on a premalignant to malignant continuum must be raised and these entities may be more similar to each other than to other entities such as iFVPTC.