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Spindle epithelial tumor with thymus-like differentiation (SETTLE), a rare tumor of the thyroid gland, is difficult to diagnose irrespective of its unique morphology. It is usually misdiagnosed as synovial sarcoma, thymoma, teratoma, or other thyroid carcinomas. In the current case report, we detail a case of a 36-year-old male patient who presented with thyroid swelling that was initially misdiagnosed as papillary thyroid carcinoma instead of SETTLE. Based on fine needle aspiration, the tumor showed a variable pattern with features suggestive of follicular neoplasm in the right lobe and atypia of undetermined significance in the left lobe. Pathological examination showed multiple nodules on both the right and left lobes, with the largest nodule measuring 4.8 x 4.5 x 3 cm. On microscopic examination, a predominant papillary pattern was observed along with spindle cell areas. Immunohistochemistry revealed positive staining for thyroglobulin, CK, HMWCK, CD99, and BCL-2, which led to the diagnosis of SETTLE. The rare nature of the condition and the reduced awareness about it make this tumor a diagnostic challenge. This case report concludes that in case of any biphasic tumor with epithelial and spindle cells in the thyroid gland, it is important to consider the differential diagnosis of SETTLE. Immunohistochemistry is more useful for diagnosing SETTLE, and thus pathologists are encouraged to judiciously advise the patients for immunohistochemistry to establish accurate and efficient diagnosis.
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Tumefactive demyelinations (TDs) are demyelinating central nervous system lesions that masquerade as neoplastic lesions on radiological images. Brain biopsy is often required for confirmatory diagnosis. Since crush cytology has become a routine practice, a thorough knowledge of the cytomorphologic features of TD is required to prevent misdiagnosis. In this report, we describe the cytomorphological and histomorphological features of a case of TD.
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Syringomatous adenoma of the nipple (SAN) is a benign and locally infiltrative lesion possibly arising from the sweat gland ducts in the nipple-areolar region. This rare lesion has been reported in the female breast; however, reports on the male breast are extremely rare. Although benign, SAN has a high risk of recurrence. The clinical presentation and histomorphological features often mimic a malignancy. Hence, an awareness of this lesion is required to make a correct diagnosis. In this report, we describe the histomorphological features of SAN in a male breast.
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Newer diagnostic modalities have revolutionized the pathologist's approach to diagnosing thyroid malignancies. Molecular characterization of these malignancies has helped circumvent common morphologic diagnostic difficulties by integrating their genotypic, phenotypic, and immunohistochemical features. BRAF V600E mutation has been characterized as highly specific for thyroid carcinoma, especially papillary thyroid carcinoma (PTC); human bone marrow endothelial marker-1 (HBME-1) and galectin-3 are also such markers that are highly specific for PTC. We propose to study HBME-1 and galectin-3 expression and BRAF V600E mutation in thyroid neoplasms and do a comparative analysis to determine whether there is a correlation between BRAF V600E expression and that of HBME-1 and galectin-3. We further propose to analyze the individual and combined diagnosed utility of the above-mentioned ancillary diagnostic techniques.
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The most common peripheral nerve sheath and vascular tumors are schwannomas and hemangiomas, respectively. These tumors can affect any organ system and usually occur as separate morphologic and diagnostic entities. Herein, we describe the case of a 24-year-old woman with a tumor demonstrating composite differentiation to both cavernous hemangioma and schwannoma in the scalp. The patient had a slow-growing subcutaneous scalp tumor in the occipital region with an insidious onset and progression. The patient underwent wide local excision for treatment and based on follow-up evaluations has remained asymptomatic with no signs of recurrence.
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Schwannomas are common peripheral nerve sheath tumors. Cavernous hemangiomas are vascular tumors that can affect any organ system. The coexistence of cavernous hemangioma with peripheral nervous system neoplasms is a rare occurrence. So far, 37 cases have been documented, and they have been divided into two categories: conjoined association (neoplasms discovered within the tumor tissue) and discrete association (neoplasms discovered outside the tumor tissue, thus placing neoplasms and tumors in close proximity but in different locations). Schwannomas and neurofibromas are the most prevalent tumors linked to cavernous hemangiomas that have been documented. The author provides a comprehensive review of all such cases published in the past with an emphasis on the implications of their tumorigenetic molecular pathways and syndromic manifestations.
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Aims We aimed to assess the incidence of the BRAF V600E mutation in thyroid neoplasms at a tertiary care center and its association with various phenotypic features. Methods and material We included all cases diagnosed as thyroid neoplasm in the past decade at the Department of Pathology of our institute and obtained their clinical details from the medical records department of the institute after obtaining permission from the authorities and due International Human Epigenome Consortium clearance. We included data on age, sex, clinical presentation, hormone status, and T and N status of the malignant neoplasms. Hematoxylin and eosin (H&E) slides of all cases were evaluated for the type of neoplasm, nuclear features, invasion into the capsule and vascular spaces, extrathyroidal extension, lymph node metastases, mitoses, necrosis, and presence/absence of amyloid. Paraffin blocks of sections with high tumor density and less normal tissue were chosen for evaluation after H&E staining. The slides showing tumors with large areas of hemorrhage, cystic change, or necrosis were excluded. Two primers were used to amplify a 339-bp fragment containing the V600E mutation in exon 15 of BRAF. Tissues were prepared from formalin-fixed paraffin-embedded (FFPE) blocks, and DNA was isolated using a standard protocol BRAF NF and BRAF NR Primer Standardized Protocol For FFPE Tissue DNA. Percentages and tables have been used for data presentation. Results Among 47 identified cases, 14 were positive for the BRAF V600E mutation and had papillary carcinoma (n = 9) or follicular neoplasms (n = 5; follicular adenoma, n = 3; follicular carcinoma, n = 2). In the BRAF-positive papillary carcinomas, five cases were aged 20-30 years, eight were female, eight (88.88%) were euthyroid, and one was hypothyroid. Furthermore, 55.55% (5/9 cases) of BRAF-positive cases were stage I, 33.3% (3/9 cases) were stage II, and 0.02% (1/9 cases) were stage III. Conclusions In our cohort, 31% of cases of papillary thyroid carcinoma (PTC) and 18.72% of follicular neoplasms expressed the BRAF V600E mutation. BRAF V600E mutation-positive papillary thyroid carcinomas consistently showed all characteristic nuclear features, such as nuclear crowding, overlapping, and grooves. Considering the greater prevalence in the younger age group, the importance of mutation surveillance in PTCs for a total thyroidectomy may be warranted in mutation-positive patients.
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Hemophagocytic lymphohistiocytosis (HLH) is a rare and potentially life-threatening condition associated with high mortality and can be classified into primary (familial) and secondary HLH. Primary HLH is an inherited, autosomal recessive disorder associated with defects in perforin function, whereas secondary HLH is associated with infections, especially Epstein-Barr virus infection, malignancies, and autoimmune disorders. Patients with malignancy-associated secondary HLH experience symptoms that overlap with those described for other HLH types, which is associated with an increased incidence of misdiagnosis and mortality. Here, we report the case of a patient with secondary HLH associated with a solid malignancy (signet-ring cell carcinoma of the stomach).
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Carcinoma de Células em Anel de Sinete/complicações , Linfo-Histiocitose Hemofagocítica/diagnóstico , Neoplasias Gástricas/complicações , Estômago/patologia , Evolução Fatal , Humanos , Linfo-Histiocitose Hemofagocítica/etiologia , Masculino , Pessoa de Meia-IdadeRESUMO
Epithelioid vascular neoplasms of the bone are classified by the World Health Organization (WHO) into only two tiers: low-grade epithelioid hemangioma (EH) and a more malignant category including both epithelioid hemangioendothelioma and epithelioid angiosarcoma. The World Health Organization defines bone EH as a locally aggressive neoplasm with no connotation of benign or intermediate malignancy. We reviewed three cases of EH in our lab archives with the perspective of appraising their histomorphological approach toward diagnosis. Patients were in the age range of 15-25 years. The site of the neoplasms ranged from the carpal bones to the metatarsal bones. Histomorphological examination of the lesions showed a nodular growth pattern of a vascular neoplasm without demonstrable vessel origin. The vasoformative area increased from the center to the periphery, with prominent epithelioid morphology of the endothelial cells at the periphery and an associated inflammatory infiltrate comprising eosinophils, lymphocytes, and plasma cells. The growth pattern was diffuse, with extension into the deeper dermis of overlying skin.
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Sacrococcygeal myxopapillary ependymoma (MPE) is an uncommon type I glial tumor detected most frequently in the lumbosacral area of adolescents and children. It is usually presented as an intradural ependymal tumor that originates from the filum terminale and other locations within the ventricular system along the craniospinal axis. In rare cases, however, MPE may develop as a primary subcutaneous tumor in the sacrococcygeal area. Tumors can also appear as a dorsal sacrococcygeal growth or subcutaneous nodule. In this case report, we describe a rare case presenting as a subcutaneous sacrococcygeal mass in an elderly female that was subsequently resected and confirmed as subcutaneous MPE. The current standard treatment for MPE is maximal surgical resection with or without postoperative radiotherapy based on the locoregional extent and histological grading. However, there is limited evidence that radiotherapy for oligometastatic foci improves longevity or extends the time to recurrence. In addition to this case report, we provide a comprehensive review of similar cases and case series in the medical literature. Prospective studies evaluating the efficacy of resection and/or radiotherapy are required for improved management of extradural MPE.
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Subinvolution of the implantation site is a significant contributor to delayed postpartum hemorrhage (PPH). There is immense literature documenting the histologic features, development, and involution of the uteroplacental site; however, practice-oriented literature on subinvolution of the implantation site is sparse. In the present study, we briefly review the physiologic characteristics associated with the normal development and involution of uteroplacental arteries and the proposed pathophysiologic attributes of subinvolution. Furthermore, we engage in a comparison of the condition with preeclampsia. Herein, we report a case of postpartum vaginal bleeding that persisted for two weeks following cesarean delivery. The bleeding was nonresponsive to conservative treatment. Sonography performed revealed that a heterogeneous intrauterine vascular mass measuring 14.6 × 9.2 × 10.4 cm was present, distending the uterine cavity. The presence of retained products of conception could not be ruled out. Therefore, to further confirm the condition, the patient underwent an emergency hysterectomy. Gross examination showed an enlarged and boggy uterus with numerous dilated and ecstatic thrombosed blood vessels in the implantation site of the endomyometrium. Histologic and immunohistochemical examination of the implantation site revealed the presence of persistently patent uteroplacental arteries with variable degrees of thrombosis adjacent to normally involuted vessels. Hence, a diagnosis of placental site vessel subinvolution (VSI) was established in this case. We also reviewed the related literature to illustrate the informative histologic findings of subinvolution. Preparing the ground for diagnosing subinvolution is important as this process defines that the cause of delayed postpartum uterine bleeding is idiopathic, rather than iatrogenic.
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Tumors involving the ampulla could be arising primarily in the ampulla or extending from the adjacent. When a neoplasm is centered primarily in the ampulla with or without periampullary mucosal involvement, it is considered a primary ampullary carcinoma. These tumors generally have a better prognosis than duodenal and pancreaticobiliary neoplasms secondarily involving the ampulla. Distinguishing between the two primary types has prognostic implications, as the pancreaticobiliary-type ampullary carcinomas are said to have a poorer prognosis than the intestinal-type. Morphological analysis alone may not suffice in this context. The role of immunohistochemistry has therefore been explored by various groups of workers. The purpose of the present study was to determine the role of morphology and cytokeratin profile in accurate typing of ampullary carcinomas as intestinal and pancreaticobiliary.
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Ewing's sarcoma family of tumors (EFTs) are malignant mesenchymal tumors with a predilection for bone and soft tissue. They are characterized by their monomorphic small blue round cell morphology. However rare morphologic variants of EFTs can also show overt epithelial differentiation in the form of squamoid differentiation along with strong cytokeratin expression. This particular subset of EFTs are known as adamantinoma-like EFTs which can be difficult to differentiate from epithelial head and neck malignancies. Here we report a case of sinonasal adamantinoma-like EFT in an 18-year-old male patient. The lesion differed from a typical EFT by means of overt squamoid differentiation which showed a basaloid appearance with peripheral palisading. The immunohistochemistry was positive for pan-cytokeratin, p40, p63, ERG, FLI1, and CK5/6. It was negative for actin, desmin, and WT-1. Initial diagnosis of a basaloid squamous cell carcinoma was made. Further molecular studies were also done due to the complex presentation of the tumor. EWSR testing with break-apart analysis confirmed EWSR1 and FLI1 rearrangements. Further confirmation was done with RT-PCR. The case was found to be positive for EWS-FLI-1 translocation. The revised immunohistochemistry panel showed CD99, ERG, FLI1, and synaptophysin positivity. The lesion was reclassified as an adamantinoma-like ES. Our case reinforces the fact that a subset of EFTs can show histomorphologic and immunohistochemical features of aberrant epithelial differentiation. These cases are difficult to differentiate from usual epithelial malignancies which occur in this region. This diagnostic pitfall can be avoided by the inclusion of CD99 and/or FLI1 in the immunohistochemical assessment of any round cell malignancy at any anatomic location. A strong and diffuse CD99 positivity should prompt molecular testing for the presence of EWSR1 gene rearrangements.
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We present a case of sequestrated meningocele in a 1-year-old girl, who presented with a 1x1cm occipital swelling since birth. CT brain revealed the soft tissue swelling to be extracranial. She underwent surgical excision of the specimen and the excised mass was sent for histopathological examination. The specimen consisted of skin and subcutaneous tissue measuring 2 x 1 x 1 cm. The entire tissue was paraffin processed. Multiple sections studied from the lesion showed an ill circumscribed locally infiltrative dermal lesion. The lesion was composed of whorled proliferations of meningothelial cells enclosing pseudovascular spaces. Immunohistochemically the lesion was positive for EMA, Desmin, and negative for endothelial markers. The present case was documented as a rare case of a rudimentary meningocele.
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Giant cell tumor (GCT) of bone is a giant-cell-rich bony lesion associated with abundant multinucleated osteoclast-type giant cells. It is a primary neoplasm of bone with characteristic clinical, radiological, and pathological features. It is an expansive and lytic lesion without periosteal reaction and prominent peripheral sclerosis. Giant cells are also seen in other diseases like giant cell granuloma of the jaws, traumatic bone cyst, aneurysmal bone cyst, and jaw tumor of hyperparathyroidism. We present a unique case of GCT of palate in a 30-year-old female.
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The aim of this study was to find out the ideal speed for making a precise osteotomy with minimal damage to the surrounding bone. Thirty-six patients were divided into two groups (n=18 in each) depending on the speed of the handpiece used for osteotomy (slow=20000rpm and fast=40000rpm). Samples were taken from the peripheral bone and examined histologically to measure the margins of the osteotomy, the amount of debris produced, and the degree of thermal osteonecrosis. The osteotomy made with the high speed handpiece was better than that made with the low speed one on all counts. The margins in the high speed group were more or less precisely as required, with less debris and no thermal necrosis, which illustrated the efficacy of a high speed osteotomy. These findings can apply to other procedures that involve osteotomies in maxillofacial surgery.
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Dente Serotino , Osteotomia , Extração Dentária , Humanos , Mandíbula , Dente ImpactadoRESUMO
Mucoceles are nonneoplastic cystic lesions of major and minor salivary glands which result from the accumulation of mucus. These lesions are most commonly seen in children. Though usually these lesions can be treated by local surgical excision, in our case, to avoid intraoperative surgical complications like bleeding and edema and to enable better healing, excision was done using a diode laser in the wavelength of 940 nm.