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Imaging studies such as Computerized Tomography (CT) and Magnetic Resonance Imaging (MRI) can aid diagnosis. Medulloepithelioma appears isodense or hypodense with variable heterogeneity and calcification on non-contrast CT scan, and enhances with contrast. This radiographical finding is consistent with a primitive neuroectodermal tumour, especially in children. Blood studies and imaging studies of the abdomen may be used to detect metastases.
Needle aspiration biopsy can be used to aid diagnosis. Definitive diagnosis requires histopathological examination of surgically excised tumour tissues.
Histologically, medulloepithelioma resemble a primitive neural tube and with neuronal, glial and mesenchymal elements. Flexner-Wintersteiner rosettes may also be observed.
Immunohistochemically, neural tube-like structures are vimentin positive in the majority of medulloepitheliomas. Poorly differentiated medulloepitheliomas are vimentin negative.
Regardless of location, all rhabdoid tumours are highly aggressive, have a poor prognosis, and tend to occur in children less than two years of age.
The histologic diagnosis of malignant rhabdoid tumour depends on identification of characteristic rhabdoid cells—large cells with eccentrically located nuclei and abundant, eosinophilic cytoplasm. However, the histology can be heterogeneous and the diagnosis of MRT can often be difficult. Misclassifications can occur.
In MRTs, the INI1 gene (SMARCB1)on chromosome 22q functions as a classic tumour suppressor gene. Inactivation of INI1 can occur via deletion, mutation, or acquired UPD.
In a recent study, SNP array karyotyping identified deletions or LOH of 22q in 49/51 rhabdoid tumours. Of these, 14 were copy neutral LOH (or acquired UPD), which is detectable by SNP array karyotyping, but not by FISH, cytogenetics, or arrayCGH. MLPA detected a single exon homozygous deletion in one sample that was below the resolution of the SNP array. SNP array karyotyping can be used to distinguish, for example, a medulloblastoma with an isochromosome 17q from a primary rhabdoid tumour with loss of 22q11.2. When indicated, molecular analysis of INI1 using MLPA and direct sequencing may then be employed. Once the tumour-associated changes are found, an analysis of germline DNA from the patient and the parents can be done to rule out an inherited or de novo germline mutation or deletion of INI1, so that appropriate recurrence risk assessments can be made.
As metanephric adenomas are considered benign, they can be left in place, i.e. no treatment is needed.
On ultrasound, a sertoli cell tumour appears as a hypoechoic intratesticular lesion which is usually solitary. However, the large cell subtype might present as multiple and bilateral masses with large areas of calcification. An MRI may also be conducted, but this typically is undefinitive.
Microscopy and immunohistochemistry are the only way to give a definitive diagnosis, especially when there is a suspected seminoma.
Cystic nephromas are diagnosed by biopsy or excision. It is important to correctly diagnose them as, radiologically, they may mimic the appearance of a renal cell carcinoma that is cystic.
The diagnosis is based on tissue examination, e.g. biopsy.
Under the microscope, glassy cell carcinoma tumours are composed of cells with a glass-like cytoplasm, typically associated with an inflammatory infiltrate abundant in eosinophils and very mitotically active. PAS staining distinctively extenuates the plasma membrane.
They generally have a good prognosis. In one larger study, the 5-year and 10-year survival were over 90% and 80% respectively.
Total resection of the tumour, followed by radiation therapy is the standard treatment modality. Medulloepithelioma of the ciliary body may necessitate enucleation of the eye. Radiation therapy alone may prolong survival. Aggressive chemotherapy with autologous bone marrow transplant is used for metastatic medulloepitheliomas.
PECs typically stain for melanocytic markers (HMB-45, Melan A (Mart 1), Mitf) and myogenic markers (actin, myosin, calponin).
Littoral cell angiomas show in CT scans. They are diagnosed by pathologists by taking a sample of the tumour via Fine Needle Aspiration or Core Needle Aspiration or from a splenectomy. Histologically, they have anastoming small vascular channels and cystic spaces with papillary projections.
Metanephric adenoma is diagnosed histologically. The tumours can be located at upper pole, lower pole and mid-hilar region of the kidney; they are well circumscribed but unencapsulated, tan pink, with possible cystic and hemorrhagic foci. They show a uniform architecture of closely packed acinar or tubular structures of mature and bland appearance with scanty interposed stroma. Cells are small with dark staining nuclei and inconspicuous nucleoli. Blastema is absent whereas calcospherites may be present. Glomeruloid figures are a striking finding, reminiscent of early fetal metenephric tissue. The lumen of the acini may contain otherwise epithelial infoldings or fibrillary material but it is quite often empty. Mitoses are conspicuously absent.
In the series reported by Jones "et al." tumour cells were reactive for Leu7 in 3 cases of 5, to vimentine in 4 of 6, to cytocheratin in 2 of 6, to epithelial membrane antigen in 1 of 6 cases and muscle specific antigen in 1 of 6.
Olgac "et al." found that intense and diffuse immunoreactivity for alpha-methylacyl-CoA racemase (AMACR) is useful in differentiating renal cell carcinoma from MA but a panel including AMACR, CK7 and CD57 is better in this differential diagnosis.
Differential diagnosis may be quite difficult indeed as exemplified by the three malignancies initially diagnosed as MA that later metastasized, in the report by Pins et al.
PECs bear significant histologic and immunohistochemical similarity to:
- angiomyolipoma,
- clear-cell sugar tumour (CCST),
- lymphangioleiomyomatosis, and,
- clear-cell myomelanocytic tumour of ligamentum teres/falciform ligament.
- abdominopelvic sarcoma of perivascular epitheloid cells
- primary extrapulmonary sugar tumour
Thus, it has been advocated that the above could be classified PEComas.
PEComas are rare and can have myriad features; therefore, they can be confused with carcinomas, smooth muscle tumours, adipocytic tumours, clear cell sarcomas, melanomas and gastrointestinal stromal tumours (GIST).
Due to the difficulty in identifying the tumour using imaging techniques, an orchiectomy is often performed. The majority of sertoli cell tumours are benign, so this is sufficient. There is no documented benefit of chemotherapy or radiotherapy.
Benign fibromas may, but need not be, removed. Removal is usually a brief outpatient procedure.
The diagnosis of synovial sarcoma is typically made based on histology and is confirmed by the presence of t(X;18) chromosomal translocation.
Spermatocytic seminomas are diagnosed based on tissue from orchiectomy (or partial orchiectomy), done for a lesion suspicious for cancer on medical imaging.
The macroscopic appearance of the tumour is of a mutinodular grey-white to tan coloured mass with gelatinous, haemorrhagic and necrotic areas. The tumour may extend beyond the testis.
The treatment of a Pancoast lung cancer may differ from that of other types of non-small cell lung cancer. Its position and close proximity to vital structures (such as nerves and spine) may make surgery difficult. As a result, and depending on the stage of the cancer, treatment may involve radiation and chemotherapy given prior to surgery (neoadjuvant treatment).
Surgery may consist of the removal of the upper lobe of a lung together with its associated structures (subclavian artery, vein, branches of the brachial plexus, ribs and vertebral bodies), as well as mediastinal lymphadenectomy. Surgical access may be via thoracotomy from the back or the front of the chest and modifications
Two cell types can be seen microscopically in synovial sarcoma. One fibrous type, known as a spindle or sarcomatous cell, is relatively small and uniform, and found in sheets. The other is epithelial in appearance. Classical synovial sarcoma has a biphasic appearance with both types present. Synovial sarcoma can also appear to be poorly differentiated or to be monophasic fibrous, consisting only of sheets of spindle cells. Some authorities state that, extremely rarely, there can be a monophasic epithelial form which causes difficulty in differential diagnosis. Depending on the site, there is similarity to biphenotypic sinonasal sarcoma, although the genetic findings are distinctive.
Like other soft tissue sarcomas, there is no universal grading system for reporting histopathology results. In Europe, the Trojani or French system is gaining in popularity while the NCI grading system is more common in the United States. The Trojani system scores the sample, depending on tumour differentiation, mitotic index, and tumour necrosis, between 0 and 6 and then converts this into a grade of between 1 and 3, with 1 representing a less aggressive tumour. The NCI system is also a three-grade one, but takes a number of other factors into account.
Recurrence rate of solid form of tumour is lower than classic form.
EMCas are diagnosed by examination of tissue, e.g. a biopsy.
Its appearance is very similar to adenomyoepithelioma of the breast, which may be the same tumour at a different anatomical site.
The histologic differential diagnosis includes adenoid cystic carcinoma and pleomorphic adenoma.
The presenting features may be a palpable testicular mass or asymmetric testicular enlargement in some cases. The tumour may present as signs and symptoms relating to the presence of widespread metastases, without any palpable lump in the testis. The clinical features associated with metastasising embryonal carcinoma may include low back pain, dyspnoea, cough, haemoptysis, haematemesis and neurologic abnormalities.
Males with embryonal carcinoma tend to have a normal range serum AFP. The finding of elevated AFP is more suggestive of a mixed germ cell tumour, with the AFP being released by a yolk sac tumour component.
An ossifying fibromyxoid tumour is a type of myxoma. It presents in the extremities more frequently than the trunk. It is derived from mesenchyme. Appearance in the head and neck is rare, but has been reported. Their malignancy has been characterized as "intermediate".
The treatment is dependent on the stage. Advanced tumours are treated with surgery (radical hysterectomy and bilateral salpingo-opherectomy), radiation therapy and chemotherapy.
A retrospective study of 83 women with sex cord–stromal tumours (73 with granulosa cell tumour and 10 with Sertoli-Leydig cell tumour), all diagnosed between 1975 and 2003, reported that survival was higher with age under 50, smaller tumour size, and absence of residual disease. The study found no effect of chemotherapy. A retrospective study of 67 children and adolescents reported some benefit of cisplatin-based chemotherapy.