Fatal outcome in two girls with Hodgkin disease complicating ataxia-telangiectasia (Louis-Bar syndrome) despite favorable response to modified-dose chemotherapy

Irsfeld, H.; Krholz, Dieter; Janen, Gisela; Wahn, V; Schroten, Horst

doi:10.1002/(sici)1096-911x(200001)34:1<62::aid-mpo14>3.0.co;2-e

Cited by 14 publications

(12 citation statements)

References 9 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…Based on the above-mentioned data, we think radiotherapy can and should be part of the treatment of Hodgkin disease in AT patients. [19] ABV/COPP(CVPP)# † 22 Secondary leukemia 1995 [19] ABV/COPP# NED 16C 1998 [20] RT † <7 ND 1998 [20] RT † <7 ND 1998 [20] ABVD## † 4 Pulmonary toxicity (nodules) 1998 [20] OPA/ChVPP † 17 ND 1998 [20] ABVD# † 3 Pulmonary toxicity (® brosis) 1998 [20] PE † 28 ND 2000 [29] OPPA † 16 Pneumonia OPPA/ABVD † 6 Pneumonia (CMV) This report RT 900 and OPA## † 6 Progressive disease, pneumonia…”

Section: Discussionmentioning

confidence: 99%

Chemo- And Radiosensitivity Testing in a Patient With Ataxia Telangiectasia and Hodgkin Disease

Tamminga

Dolsma²,

Leeuw

et al. 2002

Pediatric Hematology and Oncology

View full text Add to dashboard Cite

Treatment of Hodgkin disease (HD) in ataxia telangiectasia (AT) patients is hampered by hypersensitivity to radiation and chemotherapy. Most patients die, due to toxicity or, rarely, to progressive disease. The authors report on a 9-year-old girl with stage IIA HD and AT She was treated with a tailored combined modality approach. No unacceptable toxicity was found, but the girl died of a relapse outside the irradiation field. In comparison with fibroblasts of non-AT patients, the fibroblasts of the patient were 3 times as sensitive for radiotherapy but just 1.2 times as sensitive for doxorubicin. A good correlation was shown between in vitro radio- and chemosensitivity testing and the observed clinical toxicity. The authors suggest, therefore, treating AT patients as much as possible according to standard protocols by adjusting the radiotherapy delivery and the chemotherapy regimen to individual doses derived from in vitro radio- and chemosensitivity testing.

show abstract

Section: Discussionmentioning

confidence: 99%

Chemo- And Radiosensitivity Testing in a Patient With Ataxia Telangiectasia and Hodgkin Disease

Tamminga

Dolsma²,

Leeuw

et al. 2002

Pediatric Hematology and Oncology

View full text Add to dashboard Cite

show abstract

“…15,37,38 Although CMV pneumonia is not well studied in nontransplant children receiving chemotherapy, our case and previously reported cases in leukemia and lymphoma children imply that CMV disease could also be fatal in this population. 9,39,40 Accordingly, detecting patients at high risk for CMV disease is necessary when commencing chemotherapy.…”

Section: Discussionmentioning

confidence: 99%

Risk Factors and Clinical Features of Cytomegalovirus Disease in Children Receiving Anticancer Chemotherapy

Han

Lee

et al. 2016

Journal of Pediatric Hematology/Oncology

View full text Add to dashboard Cite

This study was conducted to identify risk factors for cytomegalovirus (CMV) infection and demonstrate the spectrum of CMV disease in children receiving anticancer chemotherapy without hematopoietic stem cell transplantation (HSCT). A total of 289 children who received chemotherapy and were tested for CMV infection were included in the study. CMV antigenemia and DNAemia were determined by identifying the pp65 antigen in leukocytes and performing real-time PCR. CMV disease was diagnosed by tissue biopsy, culture, or ophthalmic examination. Of the 289 children, CMV infection was demonstrated in 46 patients (15.9%). Young age at cancer diagnosis was the risk factor for CMV infection by multivariate analysis (7 mo vs. 7 y, P<0.001). Among 46 children with CMV infection, 10 (21.7%) were diagnosed with CMV disease; hepatitis (n=4), retinitis (n=3), hepatitis and pneumonia (n=2), and hepatitis and retinitis (n=1). The age of the patients with CMV disease was significantly younger than those without (3 vs. 16 mo, P=0.023). Retinoblastoma and neuroblastoma were the 2 most common underlying malignancies. There were 2 fatal cases associated with CMV disease, including 1 who died of CMV pneumonia. The findings of this study demonstrated significant morbidity of CMV infection and disease in young children during the course of chemotherapy without HSCT.

show abstract

“…In our case despite the long-term steroid treatment the progressive lung disease led to lethal outcome at the age of nine. The patient did not receive Bleomycin, which could possibly contribute to the progression of the chronic lung disease in A-T [10,18]. The several episodes of hemoptysis were caused more probably by a severe chronic inflammation rather than by telangiectasias of the respiratory tract.…”

Section: Discussionmentioning

confidence: 99%

“…Elevated AFP occurs in about 95% of the A-T patients. Thus, AFP appears to be a reliable diagnostic tool when other causes for its elevation are excluded, keeping in mind that another laboratory evidence like increased chromosomal breakage after radiation exposure of cell cultures or sequencing of the ATM gene is expensive and not routinely available [10,11].…”

Section: Discussionmentioning

confidence: 99%

Hodgkin's Disease with Atypical Clinical Presentation, Associated with Ataxia-Telangiectasia

Spasova

Ivanov

Grudeva-Popova

et al. 2009

Scholarly Research Exchange

View full text Add to dashboard Cite

The authors report a 4-year-old male with Hodgkin's disease with atypical clinical presentation, laboratory data and imaging studies as well as an increased radiosensitivity. These were the first symptoms which raised the suspicion of ataxia-telangiectasia. The lymphoma presented as a solid tumor mass in the right upper posterior mediastinum without peripheral lymphadenopathy. The alpha-fetoprotein was significantly increased and the diagnosis of a germ-cell tumor or neuroblastoma was suspected. After partial resection of the tumor the histology indicated Hodgkin's disease-mixed cellularity. The boy received chemotherapy according to DAL HD-95 protocol without any unusual toxicity. Low-dose radiation therapy of the upper and middle mediastinum was followed by early radiation-induced esophagitis and appearance of a large pericardial effusion one year later. Ataxia and bulbar and skin telangiectasias at the radiation site appeared in the next years. He suffered recurrent pulmonary infections and succumbed to severe pneumonia with respiratory failure and pulmonary hypertension five years after the diagnosis of malignant lymphoma without evidence of recurrence of Hodgkin's disease. Case ReportThe child was a 4-year-old male of Roma origin, born after second normal pregnancy without family history of immune deficiency. He had a past history of cerebral palsy, diagnosed at the age of 20 months because of a delay in motor and intellectual development. His present complaints were productive cough and fever for one month. After admission to the regional hospital physical and Xray signs of right pulmonary infiltrate were found, and he received antibiotic treatment with Clindamycin, Amikacin, Imipenem, and Cefepime without any improvement. He was referred for further diagnostic evaluation to the Department of Pediatrics, Medical University-Plovdiv. Physical examination on admission showed mask-like, sad, and relaxed face with progeroid features, growth retardation, reduced subcutaneous fat, generalized muscle hypotonia and atrophy, bronchial breathing in the right parascapular region, tracheal stridor, and enlarged liver 3 cm below the costal margin and lack of peripheral lymphadenopathy. Mental retardation was mild (IQ: 60%) with predominantly affected expressive speech and fine motor skills. Computer tomography (CT) scan showed tumor mass in the right upper posterior mediastinum (Figure 1). It deviated the trachea and was well demarked from the pulmonary parenchyma. No destruction of the adjacent bones was evident.Laboratory data showed leukocytosis, thrombocytosis; elevated erythrocyte sedimentation rate, serum fibrinogen and C-reactive protein 221 mg/L. The diagnostic workup for the mediastinal tumor revealed significant increase of alpha-fetoprotein (AFP) 238.98 ng/mL (reference range 0-5 ng/mL), moderate elevation of vanylmandelic acid 80.9 µmol/l, anergic tuberculin test, and negative blood and sputum cultures and serology for ecchinococcus.Germ-cell tumor or neuroblastoma was suspected and the boy was referred to ...

show abstract

Fatal outcome in two girls with Hodgkin disease complicating ataxia-telangiectasia (Louis-Bar syndrome) despite favorable response to modified-dose chemotherapy

Cited by 14 publications

References 9 publications

Chemo- And Radiosensitivity Testing in a Patient With Ataxia Telangiectasia and Hodgkin Disease

Chemo- And Radiosensitivity Testing in a Patient With Ataxia Telangiectasia and Hodgkin Disease

Risk Factors and Clinical Features of Cytomegalovirus Disease in Children Receiving Anticancer Chemotherapy

Hodgkin's Disease with Atypical Clinical Presentation, Associated with Ataxia-Telangiectasia

Contact Info

Product

Resources

About