Neonatal Tumors
4/7/2015 Disclosures Neonatal Tumors Shahab Abdessalam, MD April 10, 2015 New Frontiers in Neonatal Care Conference Objectives Consultant/ Speakers bureaus No Disclosures Research funding No Disclosures Stock ownership/Corporate boards-employment No Disclosures Off-label uses No Disclosures Introduction • Discuss the most common neonatal tumors • Discuss the work up for the neonatal tumors • Discuss the treatment approach to neonatal tumors • Show representative cases of neonatal tumors • Prevalence – 1:12,000 to 1:17,000 live births Introduction Introduction • Diagnostic and management challenge because of the wide variety of locations and tumor types • Benign tumors can be lethal and malignant tumors can be very treatable with operation only • Lymphovascular malformations are the most common tumor overall encountered • Teratomas are the #1 benign tumor encountered • Neuroblastoma is the #1 malignant tumor encountered • 1.9-2.6% of all pediatric malignancies are diagnosed in the perinatal period 1 4/7/2015 Introduction Introduction • Up to 70% will be diagnosed prenatally via fetal U/S • RADIUS trial demonstrated no benefit in perinatal outcome or survival, but did show U/S detection did impact perinatal management • Not all masses will be “cancer”, so consider appropriate choice of words – Mass – Growth – Lump – Bump – Tumor Tumor distribution • Location • Tumor – – – – – Teratoma Lymphovascular malformations Neuroblastoma Fibrosarcoma Rhabdomyosarcoma – – Neuroblastoma Teratoma – Abdominal – – – – – Adrenal tumors Mesoblastic nephroma Teratoma Liver tumors Sarcoma – Pelvic/genital – – – Teratoma Fibroma/Sarcoma Neuroblastoma – Skin/soft tissue – – – – – Infantile fibrosarcoma rhabdomyosarcoma Neuroblastoma Lymphovascular malformations histiocytosis – Head/neck – Thoracic Vascular Malformations • Present at birth and grow commensurately with the child • Histologic examinations shows that there is no cellular proliferation but rather a progressive dilation of channels of abnormal mural structure • They are lined by flat, quiescent endothelium lying on a thin single laminar basement membrane • Divided into arteriovenous, venous, and lymphatic Head/Neck Lymphangiomas • Congenital malformations of lymph tissue that result from the failure of lymph spaces to connect to the rest of the lymphatic/venous system • Can occur anywhere in the body • Head and neck region is the most common site (75%) with axilla the second most common (20%) • Equal frequency in both sexes and among all ethnic groups • Divided into microcytic (capillary) and macrocytic (cavernous) 2 4/7/2015 Lymphangiomas • Clinical Presentation – Usually discovered at birth (60%) and 90% found by the age of one – presents as a soft, smooth, nontender mass that is compressible and can be transilluminated – Symptoms related to the anatomic location of the malformation and the extent of involvement of adjacent structures – Increase in size can result from infection or intralesional bleeding • Also the two most common complications Hemangiomas Lymphangiomas • Goal is to improve cosmetic appearance and to counter impaired breathing or eating – Sclerotherapy • pure ethanol, sodium tetradecyl sulfate, doxycycline, and OK-432 • Should be reserved for lesions of the head and neck, if < 5 cm, and if macrocytic – Surgical resection • offers the potential for "cure" • should be undertaken with the understanding that these are benign • ideally removed in one procedure MRI CHARACTERISTICS OF VASCULAR ANOMALIES • Typically involute by a year of age • Resection versus observation dependent upon location, if complications (bleeding/ulceration/infection), and need for diagnosis T1 T2Contrast Gradient Weighted Weighted (gadolinium) Hemangioma Soft-tissue mass, isointense or hypointense, flow voids Lobulated softtissue mass, increased signal, flow voids Uniform intense enhancement High-flow vessels within and around soft-tissue mass Venous malformation Isointense to muscle, possible high-signal thrombi Septated softtissue mass, high signal, signal voids (phleboliths) Diffuse or inhomogeneous enhancement No high-flow vessels Arteriovenous malformation Soft-tissue thickening, flow voids Variable increased flow voids Diffuse enhancement High-flow vessels throughout abnormal tissue Lymphatic malformation Septated softtissue mass, low signal Soft-tissue mass, high signal, fluid/fluid levels Rim enhancement or no enhancement No high-flow vessels Teratoma • Most common neoplasm – 30-45% of all tumors in the first month of life • Rarely malignant (<5%) – platinum based chemotherapy • 20% of teratomas arise in the head/neck • Contain tissue elements from all three germ layers (endo, meso, ectoderm) • Treatment is operative removal 3 4/7/2015 Teratoma • In the head/neck typically originate in the thyrocervical area, palate, or nasopharynx • Usually will have polyhydramnios in utero • Can develop hydrops if large/vascular • EXIT (ex utero intrapartum treatment) procedure may be necessary • Bimodal incidence • 39 wk GA boy born by SVD • Immediate respiratory compromise requiring emergent intubation • Obvious neck mass on physical exam 4 4/7/2015 Thoracic Thoracic masses Teratoma • Besides CPAM’s, pulmonary sequestrations, congenital lobar emphysema, lung masses are exceedingly rare • 5% of teratomas arise in the thoracic cavity • Typically located in the thymus in the anterior mediastinum • Treatment is operative removal • Teratomas and neuroblastomas account for the majority of thoracic masses and are located within the mediastinum Neuroblastoma • Derived from neural crest cells which develop into the sympathetic ganglia and adrenal medulla • Despite being a malignancy, neonatal neuroblastoma has a very good prognosis and can undergo spontaneous regression even if metastatic (stage 4s) • 40% will present in the first 3 months of life 5 4/7/2015 Neuroblastoma Case Presentation • Second most common location for presentation is in the posterior mediastinum • Rarely have symptoms until quite large or with metastatic disease • The patient is a newborn male who was born at 35 weeks gestation with immediate development of respiratory distress and required intubation • Initial CXR concerning for hyperlucency of the right lower lobe and possible mediastinal mass • CT scan performed – Horner’s syndrome – Spinal cord compression – Respiratory symptoms • Urinary HVA/VMA can aid in diagnosis • Staging with CT, bone scan, bone marrow biopsy Figure 1: early radiograph showing right chest mass. Figure 3: CT of mass with foraminal extension Figure 5: liver hypodesities, suspicious for metastasis. Figure 7 6 4/7/2015 Case Presentation Case Presentation • HVA – 66 (nl < 42) • VMA – 108 (nl < 27) • Given the lack of tissue needed for complete staging, as well as the need to keep him on antihypertensive medications to control his blood pressure, he was taken back to the OR for attempts at a thoracoscopic resection of the primary tumor • Taken to the OR for bone marrow bx, open liver mass bx, and CVL Abdomen Abdominal Tumors • Adrenal - neuroblastoma • Kidney – mesoblastic nephroma • Liver – hemangiomas (60%), mesenchymal hamartoma (23%), and hepatoblastoma (15%) Causes of antenatally diagnosed adrenal masses • Adrenal hemorrhage • Enteric duplication cysts • Subdiaphragmatic extralobar pulmonary sequestration • Adrenal cytomegaly • Adrenocortical tumors • Adrenal abscess • Neuroblastoma 7 4/7/2015 Management of antenatally diagnosed adrenal masses Neuroblastoma • Ultrasound evaluation and urinary catecholamines recommended at birth and at regular intervals thereafter every 3 months until 1 yo • MIBG and MRI scan within 9 weeks • Biopsy if evidence of progression • If >5 cm in diameter, operate • Most common location is adrenal gland followed by the organ of Zuckerkandl • Urinary HVA/VMA can aid in diagnosis • Staging with CT, bone scan, bone marrow biopsy • 70% of neonatal neuroblastoma will be favorable histology (not n-MYC amplified) and therefore require no chemotherapy and achieve 95-100% survival (stage 1 or 4s) • 5% will be high risk and require intensive multimodality therapy – 30-50% survival Case Presentation Case Presentation • Newborn male with prenatal diagnosis of a left adrenal mass • No symptoms • MRI confirmed an 4 cm solid mass of the left adrenal gland • HVA/VMA slightly elevated • Staging work up negative • Repeat U/S in 3 months showed mass enlarged to 8 cm and HVA/VMA increased • 2 month old male with constipation since birth and a enlarging mass on buttocks • Physical exam notable for the mass overlying the sacrum and rectal exam with large, firm, non-mobile mass pushing the rectum anteriorly • AFP normal, HVA – 191 (nl <42), and VMA – 223 (nl<27) • MRI done Case Presentation • Newborn male with massive abdominal distention at birth and respiratory distress • CT done confirming hepatomegaly and a left adrenal mass • Taken to the OR for biopsy 8 4/7/2015 Mesoblastic Nephroma Case Presentation • • • • • The patient is a 3 month old female born full term after an uncomplicated pregnancy • U/S at 20 weeks gestation reported to be normal • Seen at 2 month well baby check with no abnormalities noted • For the three weeks prior the mother began having a difficult time putting on diapers because of an enlarging abdomen • Patient was otherwise in good spirits and tolerating a diet 7% of all tumors in the neonatal period Almost exclusively found under 6 months of age Far outnumbers Wilm’s tumors in this age group Develops from proliferating nephrogenic mesenchyme • No risk of invasion of renal vessels or IVC • 90% are stage 1 or 2 and require no other therapy besides radical nephrectomy Primary liver tumors in the newborn Malignant Benign • Infantile hemangioendothelio • Hepatocellular carcinoma ma • Mesenchymal • Rhabdoid tumor hamartoma • Yolk sac tumor • Hepatoblastoma • Choriocarcinoma • Undifferentiated sarcoma • Rhabdomyosarcoma • • • • • • Teratoma Adenoma Focal nodular hyperplasia Hepatic cysts Liver abscess Inflammatory pseudotumor Liver hemangiomas • Classified as isolated, multifocal, or diffuse • Most will involute by a year of age • Frequently associated with hypothyroidism (iodothyronine deiodinase in the tumors) • Larger tumors associated with Kasabach-Merritt syndrome • MRI/CT diagnostic with early phase enhancement in the arterial phase • Medical treatment consists of propanolol (2-3 mg/kg/day), followed by steroids (5 mg/kg/day), followed by vincristine • Operative therapy if symptoms persist, medical treatment fails, or unsure of diagnosis • Mortality ranges from 12-90% 9 4/7/2015 Mesenchymal Hamartomas • Benign tumors but reports of malignant degeneration if left untreated • Relatively avascular on U/S and CT/MRI • Most will have a cystic component to them • Most patients are asymptomatic with an incidentally discovered mass • Most occur in the right lobe Case presentation • 3 month old male presents to his pediatrician for a well child check • Liver is enlarged on exam • U/S followed by a CT Hepatoblastoma • Most common liver malignancy in pediatrics • Prematurity with low birth weight associated with a 10-100 fold increased risk over the general population • Most occur 3-18 months of age • Elavated alpha-fetoprotein in more than 90% • Fetal subtype is most favorable • Cisplatin based chemotherapy • Transplant is an option for unresectable disease 60 10 4/7/2015 Case Presentation • The patient is 3 month old male who initially presented to his primary care physician with concerns about poor oral intake, constipation, and "not looking right" • A CXR was done and it was noted that his liver appeared enlarged • Concerns were now about a possible congenital heart defect • An ECHO was normal with the exception of a mass within the liver • This prompted an U/S followed by a CT 61 Case Presentation • AFP 702,000 • Underwent a percutaneous biopsy • He received cisplatin, doxorubicin, 5-FU, vincristine • AFP decreased to 313 • Repeat MRI 11 4/7/2015 Teratoma Pelvic/Genital • 1 in every 35,000 live births • Tumors that contain elements derived from more than one of the three embryonic germ layers • Contain tissue that is foreign to the anatomic site in which they occur • Can occur anywhere in the body and present as cystic, solid, or mixed lesions • Sacrococcygeal region is the most common site (40%) • Four times more common in females Surgical Aspects Types Altman Classification • Majority of the time can be excised through a chevron buttock incision, but if significant intraabdominal component (Type III + IV) approach through the abdomen first and then turn the baby over • Control the blood supply early • Must excise the coccyx otherwise high recurrence rate (>35%) • Preserve all muscular and neural structures even if very thinned/stretched out Outcome Outcome • Survival dependent upon development of intra-uterine hydrops and prematurity • Recurrence 4-21% • 50-70% of recurrences are malignant and usually endodermal sinus tumors • Follow-up every 3-6 months for the first three years with rectal examination and check of AFP level • If recurrence then resection and if malignant usually a platinum based chemotherapy • Approximately 25% of children followed long term will have urinary or bowel issues – Approximately 50% survival if diagnosis made prenatal and associated with maternal symptoms • Overall risk of malignancy 13-27% • Dependent upon time of presentation – < 2 months has < 10% malignancy – > 2 months has 50% malignancy 12 4/7/2015 Case Presentation bladder spine • Newborn male noted on initial physical exam to have an enlarged left testicle • U/S performed confirming a solid mass nearly replacing the normal testicle teratoma 74 • Infantile fibrosarcoma Skin/soft tissue – 25% of soft tissue sarcomas < 1 year – 5 year survival 95% – 50% present at birth – Rapid growth – Usually located in distal end of extremities – Characterized by the translocation of t(12;15)(p13;q25) – Neoadjuvant (vincristine/actinomycin) therapy prior to operation to spare normal tissues Management • Biopsy indicated unless imaging “classic” for vascular tumors • Malignant tumors can mimic vascular tumors • U/S and MRI most often used for soft tissue mass work up 77 13 4/7/2015 Original x-rays Original x-rays Original MRI Original MRI bones of fingers • Rhabdomyosarcoma – 33% of soft tissue sarcomas < 1 year – 5 year survival 60% – 2% of cases present at birth – Embryonal (70%) and alveolar (30%) – Occurs in all body sites – Symptoms vary based upon site – Despite more “favorable” tumor, neonates have worse outcomes for “equivalent” disease 84 14 4/7/2015 Case presentation • 3 week old male born with gastroschisis • Undergoes primary closure and was on advancing feeds when the mother felt a “lump” on his back when she was burping him Case presentation • 6 week old male in otherwise good health was noted by his parents to have a “bump” on his lower back when they were drying him off after a bath • Lymphovascular malformations – Most common soft tissue tumors – Can occur anywhere on the body 90 15 4/7/2015 91 THE END!!! 16
© Copyright 2024