A child with unresectable biliary rhabdomyosarcoma: 48-month disease-free survival after liver transplantation.

We describe here a two-yr-old boy with biliary RMS successfully treated by chemotherapy and LT. The child presented with obstructive jaundice at 20 months of age. A mildly vascularized, non-calcified, partially cystic lesion was visualized in the left hepatic lobe. Solid infiltration of the common bile duct and of both left and right hepatic ducts was suspected. Liver biopsy suggested a botryoid-type embryonal RMS originating from the biliary tract. After extrahepatic spread of the tumor was excluded, a biliary drain was applied and neoadjuvant chemotherapy was started. After the treatment, although reduced in volume, the mass was still unresectable without aggressive surgery and gross residual disease. LT with a reduced segment II/III graft was performed four months after diagnosis. The patient received six cycles of adjuvant chemotherapy, and he is alive and recurrence-free 48 months post-transplantation. A posteriori, the transplant might have possibly been avoided with an aggressive resection with biliary reconstruction. Nevertheless, although the risk of the transplant has to be balanced against the chemoresponsiveness of the tumor, the four-yr disease-free survival of this patient suggests that, when coupled with effective chemotherapy, transplantation might be considered a potential treatment for unresectable biliary RMS.

Perianal rhabdomyosarcoma presenting 21 months after hamartoma excision.

Perianal rhabdomyosarcoma is a rare type of tumor with a relatively poor prognosis. We present the case of a patient who presented with a cutaneous perianal hamartoma at the age of 6 weeks. 21 months latter a recurrent mass at the excision site proved to be an embryonal rhabdomyosarcoma involving the anal sphincter. A pathologic review of the two specimens confirmed their relatedness. This report highlights the need to maintain a high level of suspicion in cases of recurrence following excision of a benign lesion.

Implication of unfavorable histology, MYCN amplification and diploidy for stage I and II neuroblastomas.

BACKGROUND: Surgery is the first line treatment for low-grade neuroblastomas. In stage I tumors, the presence of MYCN amplification is rarely detected and the Shimada histology is not always taken into consideration when deciding on the treatment. This study concerns the significance of these two factors in the evolution of children with low-grade neuroblastomas. METHODS: We analyzed the assessment and follow-up of children with low-grade neuroblastomas (stages I and II) with or without MYCN amplification, with either a favorable or unfavorable histology and with or without tumor cell diploidy. Favorable histology was defined as stroma-poor tumors with more than 5 % differentiating neuroblasts and a mitosis karyorrhexis index (MKI) of less than 100/5000 cells. RESULTS: From 1995 to 2006, out of 114 neuroblastomas, nine (7.9 %) were stage I and 21 (18.4 %) stage II. Of these 30 patients, 27 underwent surgery alone and three received chemotherapy after surgery. The combination of MYCN amplification, unfavorable histology and diploidy was noted in one patient who developed metastases within two months. MYCN amplification alone was noted in two cases who are still tumor-free after two years. Unfavorable histology alone was noted in four patients, of whom one suffered a recurrence of the tumor (previously stage I) and three are tumor-free after six years. Tumor cell diploidy alone was present in 11 patients whose evolution is satisfactory. CONCLUSION: Because MYCN amplification and unfavorable histology are rare in early stage neuroblastomas, these tumors may be misclassified if they are not investigated further. It seems that no single clinical or biological feature can be considered a significant factor in establishing a prognosis or determining whether additional treatment is required.

Agranular CD4+/CD56+ cutaneous neoplasm.

CD4+ CD56+ cutaneous neoplasm with hematological relapse is a rare malignant disease and has been described recently in the literature as blastic or agranular NK-cell leukemia/lymphoma. The origin of this neoplasm is uncertain. We describe a 75-year-old patient with a primary cutaneous neoplasm CD4+ CD56+ who evolved to leukemic phase despite standard lymphoma chemotherapy. Morphologically, the cells were undifferentiated without granules in the cytoplasm. The immunophenotype showed the expression of CD4, CD56, CD68, CD33, CD7, CD2, CD45RA, and CD38. Histological analysis revealed a cell infiltration mainly located in the dermis. T-cell receptor and immunoglobulin heavy chain genes were in germline configuration. Cytogenetic study showed complex structural abnormalities with a deletion of the chromosome 5 del(5q). The clinical course was aggressive with an early hematological relapse.