RESUMEN
Radiation-induced sarcoma (RIS) of the central nervous system is an uncommon late complication of radiation therapy. We report a case of a 47-year-old male patient who underwent surgery followed by irradiation and chemotherapy with temozolomide for a frontal lobe gliosarcoma and presented 43 months later with a recurrent tumor in the same location with interval growth in the size of the lesion. Histology from surgical resection of the recurrent tumor revealed embryonal rhabdomyosarcoma (RMS). Adjacent brain parenchyma showed radiation-induced changes. There was no evidence of gliosarcoma at recurrence. In addition to the rarity of sarcomas arising following irradiation for glial tumors, this case represents one of the first reports of an intracerebral RMS arising in this setting.
RESUMEN
Despite declining rates worldwide, autopsy studies remain invaluable tools to expand existing knowledge on the pathophysiology of diseases, especially those with multisystem involvement. ß-thalassemia major (ß-TM) is a relatively common hemoglobinopathy in India and is characterized by a regular requirement for life-sustaining transfusions and chelation. The iron overload is an invariable side effect. This secondary hemosiderosis leads to several complications, primarily in the heart, liver, pancreas, and endocrine organs. Despite adequate transfusion and chelation, untransplanted patients may show early mortality for several reasons. We report a 10-year-old boy with ß-TM who died with clinical possibilities of iron overload-related cardiac failure and pulmonary arterial hypertension. His autopsy revealed certain unique disease pathologies in the form of minimal cardiac fibrosis in the presence of significant cardiac siderosis and widespread endocrine damage due to iron-overload. A null-cell pituitary microadenoma, previously undescribed in thalassemia syndromes, was found. This report highlights the importance of the diminishing art of autopsy, without which these histopathological insights would not have emerged.
Asunto(s)
Sobrecarga de Hierro , Talasemia beta , Autopsia , Transfusión Sanguínea , Niño , Resultado Fatal , Humanos , Sobrecarga de Hierro/etiología , Masculino , Talasemia beta/complicacionesRESUMEN
BACKGROUND: Mycobacterium tuberculosis (MTB) in latent infection has been demonstrated in pulmonary/extra-pulmonary locations (lung, spleen, liver, kidney, adipose tissue) in autopsy studies, but its presence in ocular tissues in the latent state is not known. METHODS: We conducted molecular and histopathological study of 100 cadaver eyes (50 humans) who died from causes other than tuberculosis (TB) (and were potential candidates for corneal transplantation) to detect MTB in ocular tissues in an endemic setting. After removal of the corneal button, an 8 to 10 mm block of tissue (choroid, retina and part of the vitreous) was excised from the remaining globe for DNA isolation. Gel-based IS6110 and devR3 polymerase chain reaction (PCR) assays were done, followed by real-time PCR using beta actin gene as an internal control. Sixteen randomly selected DNA samples were double checked using a commercial kit for MTB and non-tuberculous mycobacteria (NTM) DNA. The remaining larger part of the globe was subjected to histopathology. RESULTS: The mean age was 65.14 ± 18 years. All 100 samples were negative for both IS6110 and devR, and all 16 samples were negative with NTM MTB commercial kit. All samples were negative with Ziehl-Neelsen stain for acid fast bacilli and none showed any inflammation or granulomatous pathology. CONCLUSIONS: MTB could not be detected in human ocular tissues in latent state in India, a TB-endemic country. This may suggest the inability of MTB to seed ocular tissues in the latent state, unlike other organs which serve as reservoirs for the bacilli in the absence of manifest disease.
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ADN Bacteriano/genética , Infecciones Bacterianas del Ojo/microbiología , Mycobacterium tuberculosis/genética , Tuberculosis Ocular/microbiología , Adulto , Anciano , Anciano de 80 o más Años , Cadáver , Enfermedades Endémicas/estadística & datos numéricos , Femenino , Humanos , India , Masculino , Persona de Mediana Edad , Mycobacterium tuberculosis/aislamiento & purificación , Micobacterias no Tuberculosas/genética , Reacción en Cadena en Tiempo Real de la Polimerasa , Tuberculosis Pulmonar/epidemiología , Tuberculosis Pulmonar/microbiología , Adulto JovenRESUMEN
Lymphangioma circumscriptum is a benign hamartomatous malformation involving the lymphatic system of skin and subcutaneous tissue. It can involve any part of the body with maximum predilection for proximal parts of limbs. Vulvar involvement is quite infrequent. Based on the aetiopathogenesis, it can be either primary or secondary, with the secondary form being relatively more common in vulva. We report an exceedingly rare case of primary lymphangioma circumscriptum in a post-menopausal female presenting with multiple warty, papulo-nodular lesions on both labia majora. The patient was diagnosed histopathologically and managed surgically by wide local excision with primary closure.
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Linfangioma/patología , Neoplasias de la Vulva/patología , Diagnóstico Diferencial , Femenino , Humanos , Linfangioma/cirugía , Persona de Mediana Edad , Neoplasias de la Vulva/cirugía , Verrugas/patologíaRESUMEN
Acute lymphoblastic leukaemia/lymphoma (ALL) is a systemic disease which primarily involves bone marrow or lymphoid organs. Extranodal presentation of ALL is uncommon, and ALL presenting as a dural mass is exceedingly rare. Here we present a case of primary dural B-cell ALL which was preoperatively diagnosed as meningioma on clinico-radiological grounds. A 27-year-old female patient presented with left hemicranial headache for one month's duration along with progressive vision loss of in both eye and altered behaviour. Contrast enhanced magnetic resonance imaging (CE-MRI) suggest dural based mass with dural tail sign. Histopathological examination of the resected specimen revealed B-cell ALL. Further systemic investigations didn't suggest any peripheral blood, bone marrow or lymph node involvement. To the best of our knowledge, only two cases of primary dural ALL have been reported in the literature so far. This report highlights the diagnostic difficulty in extramedullary precursor lymphoid neoplasm.
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Linfoma , Neoplasias Meníngeas , Meningioma , Leucemia-Linfoma Linfoblástico de Células Precursoras , Femenino , Humanos , Adulto , Meningioma/diagnóstico por imagen , Meningioma/patología , Leucemia-Linfoma Linfoblástico de Células Precursoras/diagnóstico , Radiografía , Neoplasias Meníngeas/diagnóstico por imagen , Neoplasias Meníngeas/patologíaRESUMEN
Teratomas with secondary somatic malignancy showing neuroglial differentiation (central nervous system (CNS)-type tumors) arising from a glial or neuroepithelial component is a very uncommon event and primarily described in the ovary. We aimed to describe the morphological spectrum and molecular features of CNS type of neuroepithelial tumors arising from the germ cell tumors (GCT) in the extra-gynecological sites. All cases of teratoma and mixed GCT arising from the non-gynecological sites over 7 years were screened for CNS type of neuroepithelial tumors. Detailed histological and immunohistochemical analysis was performed. IDH1 and 2 sequencings were performed in the glial tumors. Fluorescent in situ hybridization (FISH) was performed for EWSR1 rearrangement, 19/19q co-deletion, CDKN2A homozygous deletion, EGFR amplification, and C19MC amplification, wherever required. Out of 302 GCTs examined, the neuroglial tumor was detected in 15 cases. It included nine cases of glial tumors (including one pilocytic astrocytoma (grade I), two diffuse astrocytomas (grade II), one oligodendroglioma (grade II), one gemistocytic astrocytoma (grade II), three anaplastic astrocytomas (grade III), and one case of glioblastoma (grade IV)) and six cases of the embryonal tumor with multilayered rosettes (ETMR). None of the gliomas showed IDH mutation by immunohistochemistry or sequencing. The ETMR cases did not show Lin28 expression or C19MC amplification. To conclude, the spectrum of neuroglial tumors arising from teratoma in the extragonadal sites is vast and most commonly includes glial neoplasms and embryonal tumors. Our findings indicate that the genotype and pathogenesis of tumors with neuroglial differentiation in teratoma are distinct from their CNS counterpart.
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Astrocitoma , Neoplasias Encefálicas , Neoplasias del Sistema Nervioso Central , Glioma , Neoplasias de Células Germinales y Embrionarias , Neoplasias Neuroepiteliales , Teratoma , Astrocitoma/genética , Neoplasias Encefálicas/genética , Neoplasias Encefálicas/patología , Sistema Nervioso Central/patología , Neoplasias del Sistema Nervioso Central/genética , Neoplasias del Sistema Nervioso Central/patología , Femenino , Glioma/genética , Homocigoto , Humanos , Hibridación Fluorescente in Situ , Neoplasias de Células Germinales y Embrionarias/genética , Neoplasias Neuroepiteliales/genética , Eliminación de Secuencia , Teratoma/genéticaRESUMEN
Parathyromatosis is a rare cause of recurrent or persistent hyperparathyroidism after parathyroidectomy. The knowledge of such an entity is essential for clinical suspicion as well as cytological diagnosis and can be confirmed by ancillary techniques. We report a case, previously operated endoscopically for parathyroid adenoma, who presented with recurrent hyperparathyroidism and was found to have multiple tiny subcutaneous chest wall nodules along the endoscopic tract. Fine needle aspiration cytology coupled with immunocytochemistry confirmed parathyroid tissue. Clinical awareness of this entity can help in early detection of the cause of persistent hyperparathyroidism in these patients. Diagn. Cytopathol. 2016;44:1125-1127. © 2016 Wiley Periodicals, Inc.