CASES

1. CASES Dr. ASHOK R2 DEPT. OF RADIODIAGNOSIS GOVT MEDICAL COLLEGE, BARODA DATE:30-09-08

2. Case 1

3. 17 year old male who initially presented with fever, flu like symptoms and rib pain.

4. Largehomogenously radio-opaque soft tissue chest wall mass possibly in lateral basal or anterior basal region.

5. Chest film at that time showed left lower lobe pneumonia, which was treated with antibiotics. • Follow-up chest films showed a left pleural fluid collection and a questionable chest wall mass. • Clinically :- Palpable 5 x 5 cm left chest wall mass.

6. Axial CECT image of thorax shows hypodense mass lesion arising from the chest wall showing little contrast enhancement,have welldefined smooth borders with adjacent lung

7. Left chest wall mass with bony involvement

8. Histopathological examination and immunohistochemistry was done – proved to be ASKIN TUMOUR.

9. Askin Tumor – Belongs to group of tumours called SMALL ROUND CELL TUMOURS • AMONG MALIGNANT CHEST WALL TUMOURS OF CHILDREN, SMALL ROUND CELL TUMOURS ACCOUNT FOR MAJORITY.

10. SMALL ROUND CELL TUMOURS • EWING’S SARCOMA • RHABDOMYOSARCOMA • PNET • NEUROBLASTOMA • LYMPHOMA

11. All small round cell tumors encountered in children and young adults.

12. EWING’S SARCOMA & PNET • MC malignant tumor that affects the ribs of children & adolescent • Tumor infiltrate the bone in a permeative, “moth-eaten” pattern • Most tumor are lytic, sclerotic tumors do occur,1/3rd costal ES are expansile • Ass soft tissue mass that is significantly larger than the intraosseous tumor • Extensive periosteal reaction – not major feature of rib ES

13. Posteroanterior chest radiograph shows a large mass within the left hemithorax that extends into the right hemithorax.

14. Nonenhanced CT scan shows that the mass is large and heterogeneous. There is destruction and inward displacement of a left rib (long arrow). Rib destruction is typical but may not be extensive. Note the local invasion into the subcutaneous tissues (short arrow).

15. Axial fast spin-echo T2-weighted (c), coronal T1-weighted (d), and coronal gadolinium-enhanced T1-weighted (e) MR images show focal areas of high signal intensity and heterogeneous enhancement, findings consistent with necrosis and hemorrhage. Note the marked displacement of mediastinal structures into the right hemithorax. LV = left ventricle.

17. Recently, a new type of tumor which caused confusion about histogenesis & terminology was reported. • This type, named as extraskeletal Ewing sarcoma or soft tissue Ewing sarcoma shows a neural differentiation which can be demonstrated by immunohistochemical and ultrastructural methods. • Similar to Ewing sarcoma and PNET, these tumors have positivity in some neural markers such as neuron specific enolase, 70 kd neuroflaments and also neuroendocrine marker positivity such as chromagranin.

18. Also in some extraskeletal Ewing sarcoma cases, focal positivity of keratin and MIC 2 gene products are detected and such cases are classified as a separate clinicopathological group and referred to as Askin tumor. • According to current consensus, the so-called Askin tumor is a variant of Ewing sarcoma and PNET that involves the thoracopulmonary region

19. ASKIN TUMOUR (PNET)

20. DISCUSSION • Askin Tumor is malignant small round cell tumor, consistent with primitive neuroectodermal tumor . • They are due to reciprocal translocation between chromosome 11 & 22, • It is rare tumor seen in children & adolescents • F > M • Metastasis :- Bone , CNS , Liver & Adrenal

21. It presents as an intrathoracic soft tissue mass which usually arises in chest wall & may show calcification. • Tumors can be huge but even when large there may only minor rib focal lysis or no rib destruction at all. • Pleural effusion & hilar lymphadenopathy may be seen.

22. Primitive neuroectodermal tumor in a 44-year-old man. (a) Posteroanterior chest radiograph shows a large, right-sided chest mass.

23. Nonenhanced CT scan shows that the mass is heterogeneous. Note the absence of rib destruction. Primitive neuroectodermal tumors are typically located in the chestwall and demonstrate rib destruction less commonly than does Ewing sarcoma.

24. Rhabdomyosarcoma Rapidly growing mass with pain and symptoms due to nerve compression Age :< 45 yrs Site :Chest wall involvement is relatively uncommon Involves abdomen, head or neck Histologic subtypes – embryonal, alveolar and pleomorphic Alveolar subtype more common in chest and has worst prognosis

25. CT : Large heterogeneous mass with necrosis or cystic change with No e/o calcification Bone invasion seen in >20% Displacement or distortion of vessels is seen MRI Heterogeneous SI on T1 and T2 Low SI foci indicates – necrosis (alveolar & pleomorphic) On gad : Areas of necrosis with and alternates with ring like areas of high signal intensity and marked enhancement

26. Chestwall rhabdomyosarcomas in children differ from Ewing sarcoma and primitive neuroectodermal tumors in that rib involvement is uncommon.

27. Rhabdomyosarcoma in a 42-year-old man. (a) Posteroanterior chest radiograph shows a well-circumscribed mass in the right hemithorax that arises from the mediastinum. Note the small right pleural effusion and the surgical clips from incisional biopsy. (b) Contrast-enhanced CT scan shows that the mass is large and compresses the superior vena cava (arrow). Note the heterogeneous attenuation within the mass, which is consistent with necrosis.

28. Rhabdomyosarcoma in a 40 yrs -year-old woman. Coronal reformatted image of the apex of the left hemi thorax from a CECT scan shows heterogeneously enhancing mass that has invaded neck and chest wall muscle, vascular structures like ipsilateral subclavian artery and nerves also surrounding fascia and adipose tissue with multiple areas of necrosis within it

29. NEUROBLASTOMA Occurs in extra – adrenal sympathetic ganglia in chest wall in children C/F : Palpable masses with or without pain CT Neuroblastoma appears as ill defined tumor with calcification(50%) MR T1WI – heterogenous with low signal T2WI – high signal intensity Areas of necrosis and hemorrhage frequently present Intrathecal extension best demonstrated on MR

30. Tumor may occur anywhere within • sympathetic neural chain: • Unilateral adrenal 36%, • bilateral adrenal 7-10%, • abdominal but extraadrenal 18%, • thorax/posterior mediastinum 14%, • neck (carotid ganglia) 5%, • pelvis (organ of Zuckerkandl) 5%, • skull/olfactory bulb/cerebellum/cerebrum 2%, • other 10%, • unknown 10%.

31. Contrasted Chest CT demonstrating heterogenous appearing posterior mediastinal mass with punctate calcificatons which appears to extend into the neural foramina

32. Axial image from Chest MRI demonstrating heterogenous appearing posterior mediastinal mass with punctate calcificatons which appears to extend into the neural foramina

33. Axial image from Chest MRI demonstrating heterogenous appearing posterior mediastinal mass with punctate calcificatons which appears to extend into the neural foramina.

34. Coronal image from Chest MRI demonstrating heterogenous appearing posterior mediastinal mass with punctate calcificatons which appears to extend into the neural foramina.

35. Sagittal image from Chest MRI demonstrating heterogenous appearing posterior mediastinal mass with punctate calcificatons which appears to extend into the neural foramina.

36. Neuroblastoma in a 2-month-old girl with stridor. Coronal T2-weighted MR image shows a slightly hyperintense mass that involves the lower cervical and mediastinal regions (arrow) and displaces the trachea (arrowhead). T2

37. D / D :- Chest wall Hamartoma in infancy. • Multifocal /unifocal mesenchymal hamartomas manifesting as chest wall mass • Usually asymptomatic • Radiograph: -chest wall mass -shows a large expansile lesion involving the ribs with faint punctate chondroid mineralization (arrowheads).

38. Multifocal mesenchymal hamartomas manifesting as an anterior chest wall mass in an otherwise asymptomatic 1-day-old girl. (a) Anteroposterior chest radiograph shows a large expansile lesion involving the left seventh and eighth ribs with faint punctate chondroid mineralization (arrowheads). The smaller anterior lesion is not well seen

39. Transverse CT scan shows the noncontiguous expansile anterior and posterior rib lesions (arrows). Low-attenuating cystic areas (*) with fluid levels resulting from hemorrhagic cavities (secondary ABC areas) and calcification (arrowheads) are more evident in the posterior lesion.

40. Transverse T1-weighted (400/10) MR image reveals fluid levels (arrowheads) and high-signal-intensity foci in the posterior lesion, both resulting from hemorrhage (secondary ABC regions), whereas the anterior lesion is more homogeneous and intermediate in signal intensity.

41. CASE 2

42. A 3-year-old child presented with bilateral proptosis with associated exposure keratitis.

43. On clinical examination there was 'frog-like' facies with flattened nasal bridge, 'parrot-beaked; nose and hypoplastic supraorbital ridge.Rest of the anterior segment and posterior segment of both eyes were within normal limits. There were no syndactaly and no dental abnormalities.

44. Image #1 is an axial CT which demonstrates increased biparietal diameter in relationship to the AP diameter. Image #2 demonstrates rather shallow orbits. Image #3 is a 3-D reconstructed CT image, which demonstrates the increased biparietal diameter and coronal synostosis.

45. Crouzon's Syndrome • Crouzon's Syndrome is a triad of premature synostosis, midfacial hypoplasia and exophthalmos. • Most obvious deformity is premature and progressive craniosynostosis, which is usually present at birth and is, completed by end of third year of life. • There is no characteristic calvarial shape in this syndrome. Involvement of all sutures can occur at one time or there can be no involvement of sutures at all.

46. The coronal and sagittal sutures may fuse in 96% and 98% of cases respectively, whereas lambdoidal synostosis occurs in 79% of cases. • Clinically patient may present with headache, mental retardation, seizures because of raised intracranial tension secondary to early suture closure.

47. Midfacial hypoplasia leads to midfacial retrusion and shallow orbits characteristic of Crouzon's Syndrome. • Bony hypoplasia leads to 'frog-like'facies ,with a flattened nasal bridge of nose, hypoplastic supraorbital ridge, shallow orbits, 'parrot -beak' nose and hypoplastic cheek bones. • Hypertelorism and exophthalmos is invariably present in Crouzon's Syndrome. • There is preferential growth of brain into anterior and middle cranial fossas.

48. Superior orbital growth is stunted because of pressure in anterior fossa. • Depression in cribrifrom plate  displacement of ethmoid sinuses causing hypertelorism. • Maxillary hypoplasia  shortening of orbital floor. • Globe: pushed anteriorly because of four-wall compressive forces.

49. The traditional classification of craniosynostoses falls into three groups. • Simple or single craniosynostosis, • craniofacial dysostosis (Crouzon's Sydrome) • Acrocephalosyndactyly (Apert's Syndrome).

50. Apert's Syndrome is described as craniosynostosis combined with symmetric syndactyly of hands and feet. SYNDACTYLY