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BACKGROUND: Testicular mixed germ cell tumor is common in the post-pubertal age, less so in prepuberty. There are only 3 reports of prepubertal mixed teratoma and yolk sac tumor. Two of these cases had immature teratoma component and were in the neonatal age group. The third case in a toddler had a mature teratoma component. CASE REPORT: An 18-month-old boy presented with a testicular mass. Serum AFP was elevated (2200 ng/ml). The orchidectomy specimen contained a yolk-sac tumor and a small epidermoid cyst, indicating a mature teratomatous component. CONCLUSION: We report a testicular mixed teratoma and yolk sac tumor, prepubertal type along with summary of prior published cases. There is only one report describing this combination of mature teratoma with yolk sac tumor in the prepubertal testis.
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Tumor del Seno Endodérmico , Neoplasias de Células Germinales y Embrionarias , Teratoma , Neoplasias Testiculares , Masculino , Recién Nacido , Humanos , Lactante , Tumor del Seno Endodérmico/diagnóstico , Tumor del Seno Endodérmico/patología , Teratoma/diagnóstico , Teratoma/patología , Neoplasias Testiculares/diagnóstico , Neoplasias Testiculares/patologíaRESUMEN
Neuroblastoma is the most common extracranial malignant solid tumor in childhood. Neuroblastoma is known to metastasize in certain niche areas such as the bone, bone marrow, liver, and skin. Testicular metastasis of neuroblastoma is uncommon, and only a few cases have been reported. In this communique, we describe an infant with neuroblastoma presenting with testicular metastasis. Testicular metastasis of neuroblastoma, although uncommon, should be considered a differential of testicular masses in children.
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Post kala-azar dermal leishmaniasis (PKDL), a sequel of apparently cured visceral leishmaniasis (VL) presents with papulonodular (polymorphic) or hypopigmented lesions (macular) and is the proposed disease reservoir. As hypopigmentation appears consistently in PKDL, especially the macular form, this study aimed to delineate immune factors that singly or in combination could contribute towards this hypopigmentation. At lesional sites, the presence of melanocytes and CD8+ T-cells was assessed by immunohistochemistry and mRNA expression of melanogenic markers (tyrosinase, tyrosinase-related protein-1 and MITF) by droplet digital PCR, while plasma levels of cytokines and chemokines were measured by a multiplex assay. In comparison with skin from healthy individuals, macular PKDL demonstrated a near total absence of Melan-A+ cells at dermal sites, while the polymorphic cases demonstrated a 3.2-fold decrease, along with a dramatic reduction in the expression of key enzymes related to the melanogenesis signalling pathway in both forms. The levels of circulating IFN-γ, IL-6, IL-2, IL-1ß, TNF-α and IFN-γ-inducible chemokines (CXCL9/10/11) were elevated and was accompanied by an increased lesional infiltration of CD8+ T-cells. The proportion of CD8+ T-cells correlated strongly with plasma levels of IFN-γ (r = 0.8), IL-6 (r = 0.9, p < 0.05), IL-2 (r = 0.7), TNF-α (r = 0.9, p < 0.05) and IL-1ß (r = 0.7), as also with CXCL9 (r = 0.5) and CXCL10 (r = 0.6). Taken together, the absence/reduction in Melan-A suggested hypopigmentation in PKDL was associated with the destruction of melanocytes, following the impairment of the melanogenesis pathway. Furthermore, the presence of CD8+ T-cells and an enhanced IFN-γ-associated immune milieu suggested the generation of a pro-inflammatory landscape that facilitated melanocyte dysfunction/destruction.
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Hipopigmentación , Leishmania donovani , Leishmaniasis Cutánea , Leishmaniasis Visceral , Humanos , Leishmaniasis Visceral/complicaciones , Leishmaniasis Visceral/patología , Antígeno MART-1 , Linfocitos T CD8-positivos , Interleucina-6 , Factor de Necrosis Tumoral alfa , Interleucina-2RESUMEN
Cytological diagnosis of nodular fasciitis can be challenging. The main features on cytological smears are bland, round to ovoid cells with fuzzy cytoplasmic processes in a background of focal myxoid change. The cytological features of two cases of nodular fasciitis are described here, along with the cytological differentials.
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Fascitis , Fibroma , Humanos , Biopsia con Aguja Fina , Diagnóstico Diferencial , Fascitis/diagnóstico , Citoplasma , Fibroma/diagnósticoRESUMEN
Background: Extralobar pulmonary sequestration (ELS) is a malformation composed of bronchopulmonary tissue outside the lungs that is discontinuous from the main tracheobronchial tree. ELS can present as a suprarenal space occupying lesion. Case Report: A 1-day old girl presented with a right supra-adrenal mass, first detected in-utero at 34 weeks. The differential included congenital neuroblastoma, but the urinary VMA was normal. At resection, there was lung tissue composed of dilated and tortuous bronchioles lined by columnar epithelium present in a back- to- back arrangement along with thick-walled vessels, features of an ELS with congenital pulmonary airway malformation type II. Conclusion: ELS enters the differential diagnosis of neonatal suprarenal masses with normal urinary catecholamines, and can have the morphology of a type II congenital pulmonary airway malformation.
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Neoplasias de las Glándulas Suprarrenales , Secuestro Broncopulmonar , Malformación Adenomatoide Quística Congénita del Pulmón , Neuroblastoma , Recién Nacido , Femenino , Humanos , Secuestro Broncopulmonar/diagnóstico , Secuestro Broncopulmonar/patología , Secuestro Broncopulmonar/cirugía , Pulmón , Neoplasias de las Glándulas Suprarrenales/diagnóstico , Malformación Adenomatoide Quística Congénita del Pulmón/patología , Neuroblastoma/diagnóstico , Neuroblastoma/patologíaRESUMEN
BACKGROUND: Yolk sac tumors (YST) are commonly encountered gonadal germ cell tumors in children, especially in the prepubertal age group. In addition to gonadal primary, it can occur in multiple extragonadal sites, of which sacrococcygeal, retroperitoneum, gastric and mediastinum are the commonest. There are 4 previous reports of primary penile YST. CASE REPORT: We describe a primary penile yolk sac tumor in a child with achondroplasia. CONCLUSION: Yolk sac tumor can occur in the penis during the prepubertal period. Penile yolk sac tumor associated with achondroplasia has not been previously reported, but this could be incidental.
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Tumor del Seno Endodérmico , Neoplasias de Células Germinales y Embrionarias , Masculino , Humanos , Niño , Tumor del Seno Endodérmico/complicaciones , Tumor del Seno Endodérmico/diagnóstico , Tumor del Seno Endodérmico/patología , Pene/patologíaRESUMEN
BACKGROUND: Giant congenital melanocytic nevus (GCMN) is characterized by its large size and potential for transformation into melanoma. It can be associated with other neural cristopathies, including neurofibroma, however, it has not previously been described with a congenital neurofibroma. CASE REPORT: A newborn girl presented with a large congenital neurofibroma arising in a bathing trunk type of giant congenital melanocytic nevus. CONCLUSION: Congenital neurofibromas can be associated with (or a component of) a GCMN.
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Melanoma , Neurofibroma , Nevo Pigmentado , Neoplasias Cutáneas , Recién Nacido , Femenino , Humanos , Neoplasias Cutáneas/diagnóstico , Neoplasias Cutáneas/congénito , Nevo Pigmentado/diagnóstico , Nevo Pigmentado/congénitoRESUMEN
Lipoblastoma and lipoblastomatosis are benign fatty tumors of soft tissues that are unique to childhood. Occurrence of lipoblastoma in the labial region is infrequent and can cause diagnostic dilemma. Awareness about this entity is important to avoid hazardous treatment in young children. Here, we present a case of labial lipoblastoma in a 2-year-old child along with its differential diagnosis.
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Glial dysfunction outraging CNS plasticity and integrity results in one of the most dangerous cancers, namely glioma, featuring little median survival period and high recurrence. The hallmark properties of proliferation, invasion and angiogenesis with the infiltrated macrophages in glioma are expected to be tightly coupled or cross-linked, but not properly related so far. The present study is aimed to find a relationship between this featured quadrangle from lower to higher grades (HG) of post-operative glioma tissues and their invading subsets. Elevated Ki67-associated proliferation in lower grades (LG) was supported with VEGF dependent angiogenic maintenance which found a decrease unlikely in HG. In contrast, MMP 2 and 9-associated invasions augmented high in HG with the dominant presence of CD204+ M2 polarized macrophages and a general increase in global DNMT1-associated methylation. Marked differences found in ECM invading cellular subsets of HG showing high proliferative capacity indicating rationally for recurrence, contrasting the nature of gross tumor tissue of the same grade. Thus in LG, the neoplastic lesion is more inclined to its growth while in higher grade more disposed towards tissue wreckage in support with cellular environmental milieu whereas the cellular variants and subsets of invaded cells showed different trends. Therefore, some operational dichotomy or coupling among cellular variants in glioma is active in determining its low- to high-grade transition and aggressive progression.
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Neoplasias Encefálicas , Glioma , Humanos , Macrófagos , Invasividad Neoplásica , Neovascularización PatológicaRESUMEN
Clear cell meningioma (CCM) is a rare histological variant of meningioma. It is commonly located at the cerebellopontine angle and the spine particularly around the cauda equina. Squash cytology finding of meningioma is well-established, however there is sparse literature available on squash cytology of CCM. Here we describe a case of CCM occurring in the lumbar spine in a young woman. Initially, on squash cytology a diagnosis of a low grade glioma favouring an ependymoma was considered. Eventually histopathological examination along with immunohistochemistry helped us reach the diagnosis of a CCM. In this article we discuss the cytomorphology of CCM along with its cytological differentials and the hurdles to an accurate diagnosis.
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Ependimoma , Neoplasias Meníngeas , Meningioma , Citodiagnóstico , Ependimoma/diagnóstico , Ependimoma/patología , Femenino , Humanos , Inmunohistoquímica , Neoplasias Meníngeas/diagnóstico , Neoplasias Meníngeas/patología , Meningioma/diagnóstico , Meningioma/patologíaRESUMEN
Pilomyxoid astrocytoma is a subtype of pilocytic astrocytoma that is described as a grade 1 tumour in the 2022 WHO classification of central nervous system tumours. It occurs predominantly in the hypothalamic region in infants. Although the histological features of pilomyxoid astrocytomas are well documented, few reports are available in the literature regarding cytological findings. Here we describe the squash cytological features of a case of pilomyxoid astrocytoma along with a summary of prior published cases. Smears for this type of tumour tend to be more cellular, with piloid cells arranged in an angiocentric pattern without Rosenthal fibres or eosinophilic granular bodies. A blue myxoid substance may be present in the background.
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Astrocitoma , Neoplasias Encefálicas , Astrocitoma/diagnóstico , Astrocitoma/patología , Neoplasias Encefálicas/diagnóstico , Neoplasias Encefálicas/patología , Humanos , Lactante , Imagen por Resonancia MagnéticaRESUMEN
Background: Giant cell fibroblastoma (GCF) shows a wide spectrum of morphological patterns which may lead to a misdiagnosis of sarcoma. Case Report: This 14- month- old baby was referred to us for recurrent left scrotal embryonal rhabdomyosarcoma (ERMS), first diagnosed at 8 months, status post chemotherapy. Review of previous histology, cytology (with frequent multinucleated floret type giant cells but without cross striations) and immunohistochemistry resulted in the change of diagnosis to GCF. It was re-excised, recurred at 20 months of age, and was again re-excised. The morphology was the same in both recurrences as the original. Conclusion: Despite chemotherapy, the histology of multiple recurrences for GCF remained the same as the original. Cytologically, identification of the multinucleated floret like giant cells without cross striations was helpful in differentiating this lesion from embryonal rhabdomyosarcoma.
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Dermatofibrosarcoma , Neoplasias Cutáneas , Neoplasias de los Tejidos Blandos , Humanos , Inmunohistoquímica , Lactante , Recurrencia , Neoplasias Cutáneas/diagnóstico , Neoplasias de los Tejidos Blandos/diagnósticoRESUMEN
Background Gliomatosis peritonei (GP) is characterized by widespread implants of mature glial tissue in the peritoneum. It is most often associated with immature or mature ovarian teratomas. Case Report: A 6-month old infant developed isolated gliomatosis involving the tunica vaginalis following excision of an immature sacrococcygeal teratoma in the neonatal period. Conclusion: Tunica vaginalis gliomatosis can occur in the setting of a retroperitoneal extragonadal congenital immature teratoma.
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Neoplasias Ováricas , Neoplasias Peritoneales , Teratoma , Humanos , Lactante , Recién Nacido , Neoplasias Ováricas/patología , Neoplasias Peritoneales/complicaciones , Neoplasias Peritoneales/patología , Teratoma/patologíaRESUMEN
Background Peutz-Jeghers syndrome (PJS) is characterized by hamartomatous gastrointestinal polyposis, mucocutaneous pigmentation and cancer predisposition. The clinical features of PJS manifest in first two decades of life; however, neonatal presentation is uncommon. Case report: We present a five day old girl with PJS that presented with obstructive hamartomatous polyps in the sigmoid colon. At colostomy closure at six months, an incidental ovarian sex-cord tumor with annular tubules (SCTAT) was detected. It showed predominantly a solid pattern with limited tubule formation and was composed of lipid-rich cells. She had no hormonal symptoms. Conclusion: SCTAT can occur as young as six months of age in PJS, and may show histologic overlap with lipid-rich Sertoli cell tumors.
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Neoplasias Ováricas , Síndrome de Peutz-Jeghers , Tumores de los Cordones Sexuales y Estroma de las Gónadas , Femenino , Genotipo , Humanos , Recién Nacido , Neoplasias Ováricas/patología , Síndrome de Peutz-Jeghers/complicaciones , Síndrome de Peutz-Jeghers/diagnóstico , Síndrome de Peutz-Jeghers/patología , Tumores de los Cordones Sexuales y Estroma de las Gónadas/complicaciones , Tumores de los Cordones Sexuales y Estroma de las Gónadas/diagnóstico , Tumores de los Cordones Sexuales y Estroma de las Gónadas/patologíaRESUMEN
Background: Colorectal carcinomas (CRCs) are uncommon tumors in children. Here, we elucidate three cases of childhood CRCs with their underlying molecular derangements using immunohistochemistry (IHC) with emphasis on BRAF mutation. Case summary: All three CRCs were sporadic tumors involving the left colon with two of them having a mucinous phenotype. We performed IHC for BRAF, p53 and ß-catenin along with markers of microsatellite instability (MSI) in all three tumors. All the tumors had diffuse strong cytoplasmic BRAF positivity, with focal p53 positivity in two cases and cytoplasmic ß-catenin staining in one case. One case showed CpG island hypermethylation with isolated loss of PMS2 staining. None of the cases had any family history of CRC. Conclusions: IHC can be used as a surrogate marker for determining the underlying molecular derangements in CRC. Sporadic CRCs in children are a cumulative effect of multiple mutations, of which BRAF mutation is significant and critical for planning targeted therapy.
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Neoplasias Colorrectales , Proteínas Proto-Oncogénicas B-raf , Biomarcadores , Neoplasias Colorrectales/genética , Humanos , Inmunohistoquímica , Inestabilidad de Microsatélites , Repeticiones de Microsatélite , Mutación , Proteínas Proto-Oncogénicas B-raf/genéticaRESUMEN
BackgroundNeuroblastoma can arise from extra-adrenal sites in the paraspinal sympathetic chain, including the presacral region, where they must be differentiated from an immature or malignant neural lesion arising from a teratoma.Case ReportWe describe two congenital presacral neuroblastomas. The main clinical differential diagnoses were sacrococcygeal teratoma and meningomyelocele. Pathologically, they lacked teratomatous tissues, lacked germ cell serum markers, were localized without metastases, and were MYCN non-amplified. Both patients have done well without chemotherapy at 18 and 15 months of follow-up.ConclusionCongenital presacral neuroblastoma should be differentiated from teratomatous lesions, and in general have a good prognosis.
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Meningomielocele , Neuroblastoma , Teratoma , Diagnóstico Diferencial , Humanos , Meningomielocele/patología , Neuroblastoma/patología , Región Sacrococcígea/patología , Teratoma/diagnóstico , Teratoma/patologíaRESUMEN
BackgroundInfantile myofibromas (IM) are benign soft tissue lesions of childhood and represent a significant portion of the benign spectrum of fibroblastic-myofibroblastic tumors. Cytological diagnosis of these tumors can be challenging because of overlapping morphology and limited case report descriptions. We describe the cytological features and the cytological differential diagnoses.Case reportWe describe cytological features of two IMs. The main features were the presence of loose clusters and dispersed bland myofibroblasts in varying stages of maturation with traversing blood vessels and myxoid stroma. The cells typically lacked features of atypia, mitoses and significant pleomorphism.ConclusionDiagnosis of IM on the basis of cytology alone can be tricky and definitive diagnosis should be made only after correlating the cytological features with histology. However, bland morphology of differentiating myofibroblasts can aid in cytological diagnosis and help to exclude other malignant spindle cells neoplasms needing preoperative chemotherapy.
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Miofibroma , Diagnóstico Diferencial , Humanos , Miofibroma/diagnóstico , Miofibroma/patologíaRESUMEN
Infantile myofibromas (IMs) are benign soft-tissue tumors of children. They are of fibroblastic-myofibroblastic origin and show considerable morphological overlap with other spindle cell neoplasms. Here, we present two cases of solitary myofibromas, one in a neonate and one in a 2-year-old girl. A 2-day-old girl presented with severe respiratory distress and died during intubation. At autopsy, a myofibroma involving the oropharynx with extension up to the larynx was noted. Second case was a 2-year-girl with a myofibroma in the hard palate. IM must be differentiated from other benign and malignant spindle cell tumors of infancy and childhood. Oropharyngeal myofibroma should be considered in the differentials of neonatal respiratory distress.
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Teratomas are common tumors in children. The most common sites are gonads, however, several extragonadal sites are well known such as sacrococcygeal region, mediastinum, head and neck, stomach, and vagina. Occasionally, teratomas occur in unusual sites which pose diagnostic difficulties. Here, we describe two cases of infantile teratomas with unusual presentation. The first case was a 6-month-old girl who presented with a mass in the right side of the abdomen. Computed tomography (CT) scan showed a solid-cystic mass in the right suprarenal region. The second was a 4-month-old boy who came with a huge abdominal mass. Contrast-enhanced CT showed a tumor arising from the jejunal mesentery. On microscopic examination, they were diagnosed as mature and immature teratoma, respectively. Although neuroblastoma is the most common infantile adrenal neoplasm, the possibility of teratoma should be considered for cystic adrenal lesions. Mesenteric teratoma can be difficult to distinguish radiologically from the more common lymphangioma; however, accurate diagnosis is important in view of long-term follow-up for teratomas because of the possibility of malignant transformation.
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PURPOSE: Immunohistochemical (IHC) testing for mismatch repair (MMR) deficiency (MMRD) is used as a screening tool to identify microsatellite instability in various cancers (especially colon). This not only identifies hereditary cancer syndromes like Lynch and constitutional mismatch repair deficiency (CMMRD) but also aids in prognostication and prediction of sensitivity to checkpoint inhibitor drugs. There are very few reported studies on MMRD status of pediatric high-grade gliomas (pHGG) and none from the Indian subcontinent. The aim of this study is to evaluate the frequency of MMRD in pHGG and to assess if there is a need for universal screening with immunohistochemistry. METHODS: Paraffin blocks of consecutive cases of pHGG (< 18 years) were retrieved from 2 centres, and IHC with four MMR antibodies - MLH1, PMS2, MSH2 and MSH6 - was performed using tissue microarray-based technique. RESULTS: Three out of nine cases (33%) studied showed loss of staining. One case had loss of MSH2 and MSH6 confirmed by gene sequencing. Eight of the cases were glioblastoma. One case of IDH1-mutated anaplastic astrocytoma showed loss of MLH1 and PMS2 staining. Isolated PMS2 loss was noted in 1 case, where the non-tumour cells also showed loss of staining, indicative CMMRD syndrome. This patient had prior colon cancer with isolated PMS2 loss and responded to check-point inhibitor therapy with nivolumab. CONCLUSION: Our study shows that the frequency of MMRD to be about one-third of pHGG. Universal IHC screening for MMRD in all pHGGs may benefit early diagnosis and play a role in therapeutic decisions. A larger multi-institutional study will help better assess the prevalence and treatment implications in MMRD tumours.