RESUMO
Angiomyolipoma (AML) is classified as perivascular epithelioid cell neoplasm (PEComas) and is commonly seen in the kidney. AML is a solid mesenchymal neoplasm rarely encountered at the extrarenal site. Extrarenal AML is infrequently seen in the female genital tract. Four cases of AML of the cervix have been reported in the literature to our knowledge. We report a case of a 44-year-old female patient who presented with complaints of "lower abdominal pressure" and a history of post-coital bleeding and human papillomavirus (HPV) infection. A cyst in the uterine cervix was found incidentally on computerized tomography (CT) scan of the abdomen and pelvis. The patient underwent a loop electrosurgical excision procedure. The histologic and immunohistochemical features of the cervical biopsy favored the diagnosis of AML. The patient underwent a laparoscopic hysterectomy with bilateral salpingectomy. Grossly, a 4 cm white soft-to-firm mass was identified within the anterior lip of the cervix. Microscopy of the mass showed smooth muscle proliferation with prominent blood vessels, and scant mature adipose tissue trapped in between the smooth muscle bundles. Immunohistochemical stains showed smooth muscle actin (SMA) and desmin highlighting the smooth muscle component of AML. The histology and immunohistochemistry of the cervical mass in the surgical specimen were identical to the biopsy specimen and a diagnosis of AML was made.
RESUMO
Littoral cell angioma (LCA) is a rare, primary vascular tumor of the spleen that originates from the cells lining the venous sinuses of the spleen. Around 150 cases have been reported worldwide, with most reported cases of LCA being non-malignant but with unspecified malignant potential. As of 2022, three cases of malignant LCA have been reported. A 75-year-old male with a history of monoclonal gammopathy of uncertain significance presented with left upper outer quadrant abdominal pain. Ultrasound (US) scan showed a 10.5 cm round, circumscribed mass lesion, with hyperechoic foci, occupying the posterolateral aspect of the spleen. US-guided core needle biopsy of the mass revealed a diagnosis of "atypical cells present, suggestive of vascular neoplasm of the spleen," which was based on histologic and immunohistochemistry characteristics. Due to the size of the lesion, a malignant neoplasm was suspected, and a splenectomy was performed. Histological and immunohistochemical features of the splenic lesion returned a final diagnosis of benign LCA.
RESUMO
Intimal sarcoma (IS) is defined as a malignant tumor arising in the tunica intima of large blood vessels. In systemic circulation, the majority of IS develop in the aorta, where close to three fourths of published cases lack specific differentiation and are called undifferentiated intimal sarcomas (UIS). The remaining cases are intima-associated sarcomas of recognized types, also called differentiated intimal sarcomas (DIS). In this report, we further characterize UIS, including its immunohistochemical profile and results of comparative genomic hybridization. A total of 14 cases of UIS were collected from 17 medical institutions, including slides, blocks, electron photomicrographs, clinical abstracts, and reports of surgical pathology specimens and autopsies. The patients, 7 women and 7 men, were 41 to 85 years of age (median, 65.6 years). Twelve tumors arose from the aorta, one from the left external iliac and femoral arteries, and one in a large systemic vein (the venous tumor was included due to histologic similarity with the arterial lesions). Tumors ranged from 1 cm to over 10 cm in diameter. Histopathology was that of a largely necrotic, poorly differentiated epithelioid and pleomorphic malignant neoplasm relating to the tunica intima. Usually there was only a thin layer of viable tumor cells overlying a large thrombus. All tumors stained at least focally with the endothelial markers CD31 and Fli-1; however, there was otherwise considerable variability in immunophenotype. The distinctive histopathologic appearance of the primary luminal lesion was lost whenever tumor invaded outside the vessel wall (into adventitia and beyond) or in metastatic sites. Such extravascular tumors assumed a variety of patterns reminiscent of undifferentiated pleomorphic sarcoma (UPS; in older literature also known as pleomorphic malignant fibrous histiocytoma, MFH) or other distinct types of sarcomas, including osteosarcoma, angiosarcoma, and rhabdomyosarcoma. The results of comparative genomic hybridization were nonspecific. Eleven patients died of the disease, in an average of 11 months after diagnosis. Three patients are still alive and free of disease at 4, 16, and 27 years. UIS of large systemic vessels represents a distinct clinical entity where intraluminal sarcoma presents with thrombosis and occlusion of large vessels. It is associated with a highly characteristic, although not entirely specific, histology and immunohistochemical phenotype. The histogenesis of UIS is not certain; however, it seems that the cell of origin must leave the confines of the vessel wall to show altered morphology. Although there are rare long-term survivors, UIS behaves as a fully malignant neoplasm that is almost uniformly associated with metastases and tumor-related death.
Assuntos
Vasos Sanguíneos/patologia , Sarcoma/patologia , Túnica Íntima/patologia , Adulto , Idoso , Idoso de 80 Anos ou mais , Vasos Sanguíneos/metabolismo , Vasos Sanguíneos/ultraestrutura , Diagnóstico Diferencial , Feminino , Gelsolina/metabolismo , Humanos , Imuno-Histoquímica , Masculino , Proteínas dos Microfilamentos , Microscopia Eletrônica de Transmissão , Pessoa de Meia-Idade , Hibridização de Ácido Nucleico , Molécula-1 de Adesão Celular Endotelial a Plaquetas/metabolismo , Receptores Citoplasmáticos e Nucleares/metabolismo , Sarcoma/metabolismo , Sarcoma/ultraestrutura , Transativadores , Túnica Íntima/metabolismo , Túnica Íntima/ultraestruturaRESUMO
Clear cell follicular carcinoma is a rare type of thyroid cancer and some with aggressive biological behavior. The cytoplasmic clearing of the neoplastic cells has been attributed to the accumulation of various substances, such as glycogen, lipid, mucin, and thyroglobulin, or distension of mitochondria or endoplasmic reticulum. However, the molecular mechanisms responsible for the characteristic appearance of the cell cytoplasm and the biological behavior remain unknown. We report here a case of aggressive clear cell follicular carcinoma of the thyroid with molecular profile using targeted next generation sequencing (NGS) that presented as a metastatic tumor in a woman with a history of breast carcinoma. The NGS data revealed the coexisting of a well-characterized loss-of-function TP53 R248Q mutation and a putative gain-of-function mutation of TSHR L272V, which was suggested by the overexpression of thyroglobulin and SLC5A5 (NIS) genes in this tumor. TP53 mutations are usually related with dedifferentiation, progression, and metastasis of thyroid carcinomas. Identification of TP53 R248Q in this tumor correlated with its aggressive clinical behavior. Gain-of-function mutation of TSHR can overstimulate the thyroid follicular cells as the elevated level of TSH does and might have contributed to the development of clear cell morphology in this tumor. This report represents the first case of clear cell follicular carcinoma of the thyroid with NGS analysis and more molecular characterization is needed to elucidate the pathogenesis and provide more prognosis-relevant information for this uncommon variant of thyroid carcinomas.
Assuntos
Adenocarcinoma de Células Claras/genética , Adenocarcinoma Folicular/genética , Receptores da Tireotropina/genética , Neoplasias da Glândula Tireoide/genética , Proteína Supressora de Tumor p53/genética , Idoso de 80 Anos ou mais , Feminino , Humanos , Invasividade NeoplásicaRESUMO
Stercoral colitis with perforation of the colon is an uncommon, yet life-threatening cause of the acute abdomen. No one defining symptom exists for stercoral colitis; it may present asymptomatically or with vague symptoms. Diagnostic delay may result in perforation of the colon resulting in complications, even death. Moreover, stercoral perforation of the colon can also present with localized left lower quadrant abdominal pain masquerading as diverticulitis. Diverticular diseases and stercoral colitis share similar pathophysiology; furthermore, they may coexist, further complicating the diagnostic dilemma. The ability to decide the cause of perforation in a patient with both stercoral colitis and diverticulosis has not been discussed. We, therefore, report this case of stercoral perforation in a patient with diverticulosis and include a discussion of the epidemiology, clinical presentation, and a review of helpful diagnostic clues for a rapid differentiation to allow for accurate diagnosis and treatment.