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ABSTRACT Dyskeratosis congenita (DC) is a genetic syndrome with progressive multisystem involvement classically characterized by the clinical triad of oral leukoplakia, nail dystrophy, and reticular hyperpigmentation. Frequent complications are bone marrow failure, increased rate of malignancy, lung and liver diseases. DC results from an anomalous progressive shortening of telomeres resulting in DNA replication problems inducing replicative senescence. We report a death due to DC in a 16-year-old male with bone marrow failure and multiple organ dysfunction. At autopsy, nail dystrophy and skin hypopigmentation were observed. Gross and microscopic examinations of the internal organs showed cardiac hypertrophy, multiple lung consolidations and prominent interstitial fibrosis, liver cirrhosis, and fibrosis. Multiple foci of extramedullary hematopoiesis were identified, including on the epidural surface of the dura, that is an infrequent location, mimicking a focal area of epidural hemorrhage. Only a few autopsy studies about DC are reported in the literature. Further research should be done to understand the pathophysiology of the disease and its complications.

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ABSTRACT Hepatic cirrhosis, diabetes mellitus and iron overload can each independently predispose to cryptococcosis. Hereditary hemochromatosis leads to all three of these predispositions. This report is the case of a patient with chronic hepatitis B virus infection and cirrhosis, who had markedly elevated serum ferritin and 99% transferrin saturation, and developed a leukemoid reaction. Autopsy revealed disseminated cryptococcosis for which the leukemoid reaction was a clue and possible hereditary hemochromatosis of which elevated ferritin and transferrin saturation can be clues. Hereditary hemochromatosis is an important diagnosis clinicians should never miss because early treatment with phlebotomy can be life-saving. Disseminated cryptococcosis can be rapidly diagnosed with serum cryptococcal antigen test and is treatable.

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ABSTRACT An 80-year-old Japanese woman with diabetes mellitus was admitted with gastrointestinal symptoms and pyrexia. At presentation, liver abscesses and severe hemolytic anemia were noted. Before detailed diagnostic evaluation and adequate treatment, she suddenly died 2.5 hours after admission. The autopsy and bacteriological examinations revealed liver abscesses and massive intravascular hemolysis caused by Clostridium perfringens as well as other miscellaneous critical pathological findings, including acute renal tubular necrosis, lung edema, and pulmonary fat embolism. In this article, the detailed autopsy results are described and clinicopathologic characteristics on Clostridium perfringens-related sudden death are discussed with a review of the literature.

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ABSTRACT We present the case of a female patient diagnosed in childhood with Friedreich Ataxia (FA). At the age of 6, she developed left congestive heart failure with cardiomyopathy, as evident on echocardiogram. Neurologic signs only appeared at age 7, including marked loss of muscle mass, gait instability, muscle clonus, and Babinski's signal. At age 27, she had a stroke and was hospitalized; a few days later, she had a cardiorespiratory arrest with asystole, leading to death. The autopsy disclosed severe cardiomyopathy and significant myocardial replacement with fibrosis; therefore, the cause of death was assumed to be heart failure. Compared to the literature, our case has some unique features, such as cardiac disease as the presenting manifestation instead of gait instability, which is the major initial sign in most FA cases. Since our patient was submitted to an autopsy, it was an opportunity to retrieve important data to confirm the diagnosis and to evaluate the pathophysiology of this entity, such as myocardium fibrosis and cerebellar degeneration. In summary, our case demonstrates that cardiac disease can be the first manifestation of FA, with eventual diagnostic and prognostic implications. In addition, the autopsy provided findings of severe cardiomyopathy associated with FA.

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ABSTRACT We present the autopsy findings and differential diagnosis in a 42year old male who presented with fever and rapidly progressive respiratory symptoms like breathlessness, nonproductive cough and right sided chest pain. Initial imaging workup done at our hospital revealed a large unilateral tumor with tracheal shift. While being evaluated patient developed facial puffiness, tachypnea suggestive of superior vena cava obstruction. Antemortem biopsy of lung mass was attempted twice and that suggested malignant lesion. Unfortunately, the individual had a rapid downhill course following admission. Post mortem examination was conducted that on opening the thoracic cavity revealed total replacement of right lung tissue by a necrotic growth which was deeply adherent to the rib cage. The contralateral lung as well as all other visceral organs were unremarkable grossly. Histopathology confirmed primary Ewing sarcoma of the lung. We hereby, report a rare case of primary lung Ewing sarcoma diagnosed at autopsy.

Resumo em Inglês:

ABSTRACT We report on a 3-month old infant male who had a seven-days history of fever and rhinorrhea associated with wheezing prior to his death, during the Covid-19 pandemic. Viral testing for Covid-19 (SARS-CoV-2) was negative but was positive for Coronavirus 229E and RP Human Rhinovirus. The pulmonary histological examination showed diffuse alveolar damage along with thrombotic microangiopathy affecting alveolar capillaries. Also, thrombotic microangiopathy was evident in the heart, lungs, brain, kidneys and liver. Thrombotic microangiopathy is a major pathologic finding in Acute Respiratory Distress Syndrome and in the multiorgan failure. This is the first report that illustrates thrombotic microangiopathy occurring in lung, heart, liver, kidney and brain in Acute Respiratory Distress Syndrome with Coronavirus 229E with Rhinovirus co-infection. The clinical presentation and pathological findings in our case share common features with Covid-19.

Resumo em Inglês:

ABSTRACT Extragonadal non-gestational choriocarcinoma (ENC) is an uncommon malignant tumor occasionally found in the gastrointestinal tract. ENC is characterized by a biphasic tumor growth with distinct areas of adenocarcinoma and choriocarcinoma differentiation. Primary choriocarcinoma of the colon is extremely rare, with only 21 cases reported in the literature. Most of the perforation of colorectal cancers occurs in the abdominal cavity, while abdominal wall abscess is rare; the psoas abscess associated with colon carcinoma is even less observed. Herein, we report the case of a 61-year-old female with poorly differentiated adenocarcinoma of the ascending colon and sigmoid, with choriocarcinomatous differentiation, masquerading a psoas abscess formation. Unfortunately, despite the aggressive therapy, the patient’s disease rapidly progressed, and she died within 2 months after the diagnosis. The typical morphological pattern, immunohistochemistry, and its correlation with serum β-human chorionic gonadotropin enabled a correct diagnosis.

Resumo em Inglês:

ABSTRACT Spindle cell carcinoma (SCC) is a rare variant of squamous cell carcinoma characterized by elongated and pleomorphic epithelial cells that resemble a sarcoma. Due to its rareness, and histological resemblance to various sarcomas, the diagnosis of this neoplasia is challenging. Herein we present the case of an 82-year-old female with a polypoid, ulcerated, soft tissue mass located on the left side of the maxilla. The tomographic examination showed a hyperdense mass that infiltrated the orbital cavity, ethmoidal cells, middle and lower nasal concha, maxillary sinus, zygomatic arch, and mandibular ramus on the left side. Histopathologically, the tumor was composed of spindle cells that were sarcomatous in appearance, with aberrant mitosis, along with a group of pleomorphic cells with a more epithelioid and hyperchromatic appearance on a stroma of densely vascularized fibrous tissue. The immunohistochemistry panel used to determine the lineage of the tumor rendered the diagnosis of SCC. The diagnosis of SCC is challenging to the pathologist since its morphology can resemble a sarcoma. Thus, immunohistochemistry is a valuable resource to support the diagnosis. We propose that SCC should be considered when examining a biphasic neoplasm with the aforementioned histological characteristics and markers.

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ABSTRACT Metanephric adenoma (MA) is a rare benign neoplasm of the kidney that is usually asymptomatic and incidentally diagnosed. MA usually present as a solid mass; however, a cystic presentation has been reported. The main differential diagnosis of MA is the epithelial predominant Wilms tumor (e-WT) and the solid variant of papillary renal cell carcinoma (pRCC). The presence of the BRAF gene mutation has recently been reported in 85% of MA, and less than 10% of cases of MA do not express this specific gene mutation. Herein we report a 22-year-old man who presented with back pain and abdominal discomfort with a renal mass on the computed tomographic scan. The diagnosis of metanephric adenoma was confirmed histopathologically. In our case, the tumor presented as a solid and cystic mass hence mimicking a papillary renal cell carcinoma. The VE1 protein, which correlates with BRAF gene mutation, did not show any significant expression. We want to highlight that MA can present as a cystic lesion that should be taken into account to avoid unnecessary radical nephrectomy. Also, we demonstrated that a subset of MA might not harbor the BRAF gene and, they are classified as the BRAF wild type MA.

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ABSTRACT Arteriovenous malformation (AVM) is a rare lesion in the uterus, which can lead to abnormal uterine bleeding. While AVM has been described in other organs in the literature, there is a paucity of pathology reports of the AVM in uterus. On gross examination, the uterus was markedly enlarged and partly distorted with a pedunculated solid mass, which on the cut surface showed multiple well-circumscribed hemorrhagic cysts ranging from 0.1 to 4.0 cm in size. Microscopically, they were malformed dilated vascular structures containing organized thrombi. We present this case of uterine AVM with gross and microscopic findings, which can serve as a crucial reminder for pathologists to keep in the differential diagnoses as a potential cause of abnormal uterine bleeding.

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ABSTRACT The chest wall chondrosarcoma (CWC) is a rare slowly growing primary tumor of the chest wall with an incidence of <0.5 per million person-years. We present the case of a giant CWC that caused a mass effect on the mediastinum, heart, and lung. Large tumors with thoracic structures compression may be life threatening, and its resection and subsequent chest wall reconstruction represent a significant multidisciplinary surgical challenge. In this case, despite the large tumor dimensions, the preoperative planning—sparing key reconstructive options without compromising the tumor resection—allowed a complete en bloc tumor excision of a grade III chondrosarcoma with negative histologic margins. Successful reconstruction of the large full-thickness chest wall defect, with a latissimus dorsi muscle flap and methyl methacrylate incorporated into a polypropylene mesh in a sandwich fashion, was accomplished. Patient recovery was uneventful with good functional and aesthetic outcomes, and no evidence of recurrence at 1.5 years follow-up. This case report illustrates the main clinical, radiological, and histologic features of a CWC while discussing the surgical goals and highlighting the principles for chest wall reconstruction following extensive resection of a large and rare entity.

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ABSTRACT Benign multicystic peritoneal mesothelioma (BMPM) is a rare peritoneal tumor diagnosed predominantly in pre-menopausal women. Associated risk factors include endometriosis and pelvic inflammatory disease in women, and prior abdominal surgery in both genders. To date, the pathogenesis of this disease remains controversial with possible etiologies, including a neoplastic versus a reactive process. Given the risk factors, some authors believe that this disease is secondary to a reactive process. However, because some studies describe cases where there is no prior surgical history or inflammatory milieu present, and because of this entity’s predilection for recurrence, some authors believe the origin to be neoplastic. Some genetic and familial associations have also been reported. Malignant transformation is extremely rare, with only two cases reported in the literature, despite the recurrence potential. Like the etiology, the name of this entity is also controversial. Some authors prefer the term “peritoneal inclusion cyst (PCM)” instead of “benign cystic mesothelioma” and argue that the term mesothelioma should only be used when there is evidence of atypia. Most cases of BMPM are discovered incidentally. Others reflect sequela of tumor mass effect. It appears intra-operatively as large, multi-focal, cystic lesions in the peritoneal and pelvic cavity. Diagnosis is achieved through surgical sampling with histopathological examination. Immunobiologically, BMPM exhibits multiple small cystic spaces with flattened lining containing calretinin positive cells without atypical features, mitotic figures, or tissue invasion. Treatment includes cytoreductive surgery. Here we present a case of BMPM in a 60-year-old male – a rare disease in an uncommon patient population.

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ABSTRACT The pancreatic neuroendocrine tumors (PanNETs) most commonly present as solid neoplasms; however, very rarely, they may present primarily as cystic neoplasms. Most of the cystic PanNETs are non-secreting tumors, and the radiological features are not well defined. Hence pre-operative diagnosis is usually challenging and the tumors are misdiagnosed as mucinous cystic neoplasms, intraductal papillary mucinous neoplasms, serous cystic neoplasms, solid pseudopapillary neoplasms, and non-neoplastic cysts. However, the management depends on the accurate diagnosis of these cystic lesions, which poses a dilemma. Herein, we report the case of a cystic PanNET in the tail of the pancreas, which was clinically and radiologically misdiagnosed as a mucinous cystic neoplasm. This case is reported to highlight this issue to the medical community regarding the diagnostic difficulty in such rare non-functioning pancreatic neuroendocrine tumors.

Resumo em Inglês:

ABSTRACT Coronavirus disease 2019 (COVID-19), first recognized in Wuhan, China, was recently declared a global pandemic by the World Health Organization (WHO). Advanced age and comorbid disease, well-known characteristics in the solid tumor population, have been reported as risk factors for severe disease and death. Cancer-related immunosuppression and its treatments also seem to play an active role in the prognosis, response, and clinical outcomes of these patients. The most effective combination therapy for COVID-19 is still under investigation, and the use of corticosteroids is controversial. Although, as a group, metastatic cancer patients are often considered not to be good candidates for ICU treatment, the individual prognosis should always come into consideration, even in a context of high pressure on medical facilities. We report the case of a stage IV prostate cancer patient infected with SARS-CoV-2 who required ICU admission and recovered from COVID-19 infection. Further studies are needed in order to identify accurate clinical prognostic criteria and provide the best treatment for these challenging patients.

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ABSTRACT Radiation-induced brachial plexus neuropathy (RIBPN) is a rare and delayed non-traumatic injury to the brachial plexus, which occurs following radiation therapy to the chest wall, neck, and/or axilla in previously treated patients with cancer. The incidence of RIBPN is more common in patients treated for carcinoma of the breast and Hodgkin lymphoma. With the improvement in radiation techniques, the incidence of injury to the brachial plexus following radiotherapy has dramatically reduced. The currently reported incidence is 1.2% in women irradiated for breast cancer. The progression of symptoms is gradual in about two-thirds of cases; the patients may initially present with paresthesia followed by pain, and later progress to motor weakness in the affected limb. We present the case of a 68-year-old female patient with breast cancer submitted to surgery, chemotherapy, and radiotherapy in the year 2000. Eighteen years later, she developed symptoms and signs compatible with RIBPN and was successfully submitted to omentoplasty for pain control. Omentoplasty is an alternative treatment for RIBPN refractory to conservative treatment, which seems to be effective in improving neuropathic pain. However, postoperative worsening of the motor strength is a real possibility, and all candidates for this type of surgery must be informed about the risk of this complication.

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ABSTRACT Angiomyolipoma is a benign mesenchymal neoplasm of the renal parenchyma, accounting for 1% of all renal parenchymal tumors. However, this entity may rarely occur in extrarenal sites. Extrarenal angiomyolipoma has been documented in various sites of the body, but angiomyolipoma of the broad ligament was reported in only two cases. We report the reputed third case of angiomyolipoma of the broad ligament in a 33-year-old female, who presented clinically with abdominal distension. With a working diagnosis of low-grade neoplasm, an en-bloc excision of the left broad ligament mass was performed. Based on histopathology and immunohistochemistry, a diagnosis of the classical variant of angiomyolipoma of the left broad ligament was made. The post-operative period was uneventful with no recurrence after 6 months of follow-up.