Mark E. Weinblatt

Transformation of congenital neutropenia into monosomy 7 and acute nonlymphoblastic leukemia in a child treated with granulocyte colony-stimulating factor

A cytogenetically normal infant with Kostmann syndrome (severe congenital granulocytopenia) was treated with granulocyte colony-stimulating factor, which resulted in a rapid improvement in his neutrophil count and a resolution of recurrent infections. After 11 months of therapy, splenomegaly developed, with thrombocytopenia, anemia, circulating nucleated erythrocytes, and acquired monosomy 7, which evolved during a period of 7 months into acute nonlymphoblastic leukemia. The use of granulocyte colony-stimulating factor in patients with congenital marrow failure disorders may induce or hasten the onset of a malignant transformation.

Chemotherapeutic treatment of malignant chordoma in children.

Purpose: We describe the effect of multiugcnt chemotherapy for malignant chordoma. Previous reports of other patients with malignant ehordoma treated with chemotherapy as well as other therapeutic interventions are reviewed. Patients and Methods: We describe a 19-month-old girl with unresectable cervical chordoma mctastatic to the lungs at diagnosis treated with multiagent systemic chemotherapy. CNS disease was diagnosed after one course of therapy, and intrathecal chemotherapy was then administered. Conclusions: Ifosfamidc and doxorubicin were efficacious in a patient with advanced mctastatic disease, producing significant disease regression. The addition of intrathecal or intraventricu-lar therapy with hydrocortisone, ARA-C. and methotrexate was effective in controlling CNS disease due to chordoma. There was no apparent benefit from the use of actinomycin-D, cyclophos-phamide and vincristine nor the combination of cisplatin and 5-fluorouracil or high-dose methotrexate.

Atypical PFAPA Syndrome (Periodic Fever, Aphthous Stomatitis, Pharyngitis, Adenitis) in a Young Girl with Fanconi Anemia

Purpose: To describe a case of atypical, severe, periodic fever, aphthous stomatitis, pharyngitis and adenitis syndrome (PFAPA syndrome) in a patient with Fanconi anemia. Important aspects about the PFAPA syndrome and Fanconi anemia are reviewed. Patients and Methods: An 8-year-old girl with Fanconi anemia was noted to have a pattern of periodic fever, stomatitis, and pharyngitis consistent with the diagnosis of PFAPA syndrome, a generally benign disorder. After prednisone treatment for the syndrome, life-threatening intestinal ulceration and perforation developed, which was successfully treated. Conclusion: In patients with underlying hematologic disease such as Fanconi anemia. PFAPA syndrome may be associated with severe clinical problems in contrast to otherwise normal children with the disorder.

Diamond-Blackfan syndrome: an unusual cause of hydrops fetalis

An unusual case of Diamond-Blackfan syndrome whose initial presentation was hydrops fetalis is presented. Diamond-Blackfan syndrome and the pathophysiology of hydrops fetalis in severely anemic infants are briefly reviewed.

Hemolytic uremic syndrome associated with cisplatin therapy.

An adolescent with a small round cell tumor of the chest wall, who was treated with cisplatin, developed hemolytic uremic syndrome with severe hypertension, which ultimately contributed to her death. Cisplatins role as a possible causative agent of this syndrome is discussed. Recommendations are made for monitoring abnormalities that may signal the onset of this potential complication.

Sirolimus as an Effective Agent in the Treatment of Immune Thrombocytopenia (ITP) and Evans Syndrome (ES): A Single Institution's Experience.

Background: Autoimmune cytopenias are characterized by immune-mediated destruction of hematopoietic cell lines with immune thrombocytopenia (ITP) affecting platelets and Evans syndrome (ES) affecting platelets and red blood cells. For patients with persistent disease, limited options for effective and well-tolerated therapies exist. Objectives: Our aim is to describe our institution’s experience with sirolimus as therapy for pediatric patients with persistent ITP and ES. Design/Method: A retrospective analysis was performed in patients with persistent ITP and ES treated with sirolimus. Responses were categorized as complete response (CR), partial response, modest response, or no response. Results: Of the 17 patients treated, 12 had ITP and 5 had ES. Seventy-three percent of ITP patients achieved a CR, 78% of them by 3 months. Only 2 patients did not achieve a durable response. Eighty percent of ES patients had a response, with 50% of them achieving CR and the other 50% an asymptomatic partial response. One patient with ES achieved modest response, but discontinued therapy due to an adverse effect. Of the patients that achieved CR, 90% remain off all therapy for a median of 2 years. Conclusions: Our data suggest that sirolimus is a safe and effective steroid-sparing agent in the treatment of persistent ITP and ES.

Immune thrombocytopenic purpura evolving into aplastic anemia in association with Epstein-Barr virus infection

Two children with typical findings of acute immune thrombocytopenic purpura (ITP) soon progressed to pancytopenia with severely hypocellular bone marrows. Both were found to have evidence of recent Epstein-Barr virus (EBV) infection. Treatment with anti-thymocyte globulin resulted in a complete remission in one patient and near complete remission in the other. Possible pathophysiologic mechanisms of this transformation are discussed. Children with a diagnosis of ITP who suffer a progressive fall in all hematologic cell lines should be examined for the possibility of EBV-associated aplastic anemia.

Relapse and outcome patterns of patients with central nervous system mixed malignant germ cell tumors treated without irradiation: Findings from the Third International Central Nervous System (CNS) Germ Cell Tumor (GCT) Study

To evaluate patterns of relapse and outcome in patients newly diagnosed with CNS Mixed Malignant GCT (MMGCT) treated initially with chemotherapy alone.

Transient TTP in childhood.

Thrombotic thrombocytopenic purpura (TTP) is a type of microangiopathic hemolytic anemia that is uncommon in childhood. Adults with TTP have a high mortality rate unless they are treated with plasma exchange. There are few reports of children with acquired idiopathic TTP, and most of those children received some form of treatment. We describe a child with acquired idiopathic TTP who had severe thrombocytopenia and anemia that resolved over several months without the use of any medications. This case suggests that some children with acquired idiopathic TTP might be safely observed without ill effects. Pediatr Blood Cancer 2009;52:424–426.