RESUMEN

In the elderly with cytopenia, the diagnosis of myelodysplastic syndrome (MDS) may be missed. Cytokine levels contribute to the pathology of MDS. Hence, the objectives were to evaluate cytogenetic profile as a prognostic indicator in risk stratification and cytokine levels as a screening tool in patients with cytopenia for diagnosis. Over 2 years (2016-2018), 150 elderly patients were screened. MDS diagnosis was confirmed by morphology. Interleukin-2 (IL-2) and IL-6 levels were assessed in 50 patients, and karyotyping was performed in 20 confirmed cases of MDS. Age-matched healthy controls were used for comparison of cytokine levels. Among 150 patients, 88.6% had anemia, including nutritional anemia (51.2%). MDS diagnosis was confirmed in 35 patients. In 15 patients, unexplained cytopenia (UC) was present. Karyotyping in 20 MDS patients was normal in 15 (75%) patients and revealed a complex karyotype in four (20%) patients and double chromosomal abnormality in one (5%) patient. The Revised International Prognostic Scoring System (IPSS-R) scored 91% in the low-risk group and 9% (n = 3) in the high-risk group; the latter three developed acute myeloid leukemia (AML) and two of them had a 7q deletion. Among the 15 cases of UC, one patient died from refractory anemia. No significant difference in levels of IL-2 and IL-6 were found between MDS and UC patients when compared with healthy controls, as well as between different risk groups and karyotypes. A significant difference in IL-2 levels was found in MDS patients with disease progression and with stable disease. On the basis of the findings, it is suggested that IL-2 levels will help in predicting disease progression.

Asunto(s)

Anemia/genética , Biomarcadores de Tumor/genética , Interleucina-2/genética , Leucemia Mieloide Aguda/genética , Síndromes Mielodisplásicos/genética , Síndrome de Williams/genética , Anciano , Anciano de 80 o más Años , Anemia/sangre , Anemia/diagnóstico , Anemia/patología , Biomarcadores de Tumor/sangre , Estudios de Casos y Controles , Estudios Transversales , Progresión de la Enfermedad , Femenino , Expresión Génica , Humanos , Interleucina-2/sangre , Interleucina-6/sangre , Interleucina-6/genética , Cariotipo , Cariotipificación , Leucemia Mieloide Aguda/sangre , Leucemia Mieloide Aguda/diagnóstico , Leucemia Mieloide Aguda/patología , Masculino , Persona de Mediana Edad , Síndromes Mielodisplásicos/sangre , Síndromes Mielodisplásicos/diagnóstico , Síndromes Mielodisplásicos/patología , Síndrome de Williams/sangre , Síndrome de Williams/diagnóstico , Síndrome de Williams/patología

RESUMEN

Giant cells in soft tissue (ST) tumors are rare, pose great challenges to treating clinicians, and diagnosing pathologists. Common lesion with giant cells includes benign conditions such as nodular fasciitis to highly malignant lesions such as giant cell variant of malignant fibrous histiocytoma and extraskeletal osteosarcoma. Giant cell tumors of ST, extension of bony lesion to the ST are also rare possibilities. Recently, giant cell fibroblastoma and dermatofibrosarcoma protuberans have also been added to this list. These tumors show unpredictable behavior; some patients are cured by simple surgical excision whereas others develop metastasis. Diagnosing these in cytology is still more challenging. We report here a rare case of a giant cell-rich dermatofibrosarcoma protuberans in a 23-year-old male who presented with ST lesion in left forearm since 6 months. The lesion was predicted in fine-needle aspiration cytology and confirmed later with histopathology. When evaluated along with clinical features, the cytological features are very useful to distinguish between these tumors with giant cell morphology.

Asunto(s)

Células Gigantes/patología , Neoplasias de los Tejidos Blandos/diagnóstico , Biopsia con Aguja Fina , Histocitoquímica , Humanos , Masculino , Necrosis/patología , Osteoclastos/patología , Adulto Joven

RESUMEN

Co-existence of mucinous cystadenocarcinoma with mature cystic teratoma in the same ovary is very rare. We report a case in a 48-year-old female who presented with left abdominal mass. CT scan revealed a heterogeneous enhancing left ovarian mass lesion. Clinical diagnosis of complex ovarian cyst was made, later underwent laparotomy and histologically diagnosed as mucinous cystadenocarcinoma (grade 2) co-existing with benign cystic teratoma, stage Ia (FIGO) of the left ovary. Six months after surgery, the patient is doing well without any recurrence or metastasis. Hence, histopathological examination plays a significant role in accurate diagnosis and management of the patient. So, we should be aware of these rare co-existent tumours and meticulous dissection should be done to look for any synchronous tumours or malignant areas; since management and prognosis will vary significantly depending upon the microscopic type and stage.

RESUMEN

Lymphoepithelioma -like carcinomas (LELCs) are tumors with histological features similar to those of lymphoepithelioma of nasopharynx. They have been described in many organs including female genital tract. Their histology is characterized by sheets, nests and cords of large syncytial tumor cells containing round nuclei with prominent nucleoli and dense lymphoplasmacytic infiltrate in the stoma. The association of Epstein-Barr virus (EBV) with LELCs has not been observed in western patients. But a few Asian patients with these tumors in uterine cervix have shown positive association of EBV. Cervical LELCs harbor EBV more frequently than cervical squamous cell carcinomas. These tumors are rarer in endometrium. Only 3 cases have been reported and the association of EBV has not been observed. We present here a rare case of LELC in endometrial polyp from India, who presented with postmenopausal vaginal bleeding. The tumor cells were positive for cytokeratin and EBV Latent membrane protein-1.

RESUMEN

Ewings sarcoma (ES) and primitive neuroectodermal tumor are closely related family of small round cell tumors seen in childhood and adolescence. The incidence of these tumors occurring in the head and neck region is just 2-7%. Mandible and maxilla are the most common sites, whereas involvement of the sinonasal tract is very rare. We report a case of extraskeletal ES of the sinonasal tract in a 29-year-old female who presented with nasal obstruction and epistaxis. The patient was treated with 14 cycles of chemotherapy, combined with surgery and radiotherapy with complete recovery. We present this case due to its rarity, to analyze the clinical, histopathological and immunohistochemical findings, so as to differentiate from other small round cell tumors of the sinonasal tract for appropriate treatment.

Asunto(s)

Neoplasias Nasales/diagnóstico , Senos Paranasales , Sarcoma de Ewing/diagnóstico , Adulto , Femenino , Humanos , Neoplasias Nasales/terapia , Sarcoma de Ewing/terapia , Resultado del Tratamiento

Asunto(s)

Enfermedad de Hashimoto/complicaciones , Linfoma/etiología , Linfoma/patología , Neoplasias de la Tiroides/etiología , Neoplasias de la Tiroides/patología , Biopsia con Aguja Fina , Femenino , Estudios de Seguimiento , Enfermedad de Hashimoto/patología , Humanos , Linfoma/terapia , Persona de Mediana Edad , Neoplasias de la Tiroides/terapia , Resultado del Tratamiento

RESUMEN

Imerslund Grasbeck syndrome (IGS) is a rare autosomal recessive childhood disorder characterized by selective Vitamin (vit) B 12 malabsorption with asymptomatic proteinuria without any structural renal pathology. The patients stay healthy for decades with life-long parenteral vit B12. We report a case of young female who presented with pancytopenia and proteinuria, evaluated in local hospitals as chronic hemolytic anemia (autoimmune cause), finally diagnosed as IGS on complete evaluation. She was treated with injectable vit B12 (1000 µg cyanocobalalmin) and showed drastic recovery. IGS should be considered in patients with megaloblastic anemia not responding to oral vit B12 and associated proteinuria.

RESUMEN

Chromophobe renal cell carcinoma is a relatively uncommon variant of renal cell carcinoma. Eosinophilic variant of chromophobe renal cell carcinoma (EVCRCC) is still less frequent and is composed predominantly of small to medium-sized cells with abundant granular eosinophilic cytoplasm. We report two cases of EVCRCC, with one having a rare association of right atrial myxoma. We present these cases, due to the rarity of EVCRCC and an unusual association of right atrial myxoma in one of them. Both patients recovered well after surgery, with no recurrence or metastasis after 2 years of follow-up.