A Review of the Clinical Features and Management of Systemic Congenital Mastocytosis through the Presentation of An Unusual Prenatal-Onset Case
Mastocytosis is a heterogeneous group of rare hematological disorders that can occur in infancy. We report a 16-year-old girl who presented with an aggressive form of systemic congenital mastocytosis, associated with a significant global developmental delay, deafness, and multiple anomalies. At 4 ye...
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| Format: | Article |
| Language: | English |
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MDPI AG
2023-10-01
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| Series: | Current Oncology |
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| Online Access: | https://www.mdpi.com/1718-7729/30/10/649 |
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| author | Valérie Larouche Marie-Frédérique Paré Pierre-Olivier Grenier Anna Wieckowska Eric Gagné Rachel Laframboise Nada Jabado Isabelle De Bie |
| author_facet | Valérie Larouche Marie-Frédérique Paré Pierre-Olivier Grenier Anna Wieckowska Eric Gagné Rachel Laframboise Nada Jabado Isabelle De Bie |
| author_sort | Valérie Larouche |
| collection | DOAJ |
| description | Mastocytosis is a heterogeneous group of rare hematological disorders that can occur in infancy. We report a 16-year-old girl who presented with an aggressive form of systemic congenital mastocytosis, associated with a significant global developmental delay, deafness, and multiple anomalies. At 4 years of age, she developed a germinoma presenting as an invasive spinal mass. Extensive cytogenetic, metabolic, and molecular genetic studies that included whole-exome sequencing studies revealed a <i>KIT</i> alteration (NM_000222.3(KIT):c2447A > 7 pAsp816Val) and likely pathogenic variant in the DNA from peripheral blood and skin lesions. C-kit was also found to be overexpressed in the spinal tumor cells. We compared the features of this child to those of six previously reported pediatric patients with cutaneous mastocytosis, microcephaly, microtia, and/or hearing loss reported in OMIM as mastocytosis, conductive hearing loss, and microtia (MIM 248910), for which the etiology has not yet been determined. This report extends the currently recognized spectrum of KIT-related disorders and provides clues as to the potential etiology of a syndromic form of congenital mastocytosis. International efforts to understand the benefits of long-term targeted therapy with tyrosine kinase inhibitors for this KIT-altered rare disease should continue to be evaluated in clinical trials. |
| first_indexed | 2024-03-10T21:19:46Z |
| format | Article |
| id | doaj.art-7a85a845c31941a29b56dc5072539f4b |
| institution | Directory Open Access Journal |
| issn | 1198-0052 1718-7729 |
| language | English |
| last_indexed | 2024-03-10T21:19:46Z |
| publishDate | 2023-10-01 |
| publisher | MDPI AG |
| record_format | Article |
| series | Current Oncology |
| spelling | doaj.art-7a85a845c31941a29b56dc5072539f4b2023-11-19T16:10:54ZengMDPI AGCurrent Oncology1198-00521718-77292023-10-0130108992900310.3390/curroncol30100649A Review of the Clinical Features and Management of Systemic Congenital Mastocytosis through the Presentation of An Unusual Prenatal-Onset CaseValérie Larouche0Marie-Frédérique Paré1Pierre-Olivier Grenier2Anna Wieckowska3Eric Gagné4Rachel Laframboise5Nada Jabado6Isabelle De Bie7Department of Pediatric Hemato-oncology, Centre Hospitalier Universitaire de Quebec-Université Laval, Quebec, QC G1V4G2, CanadaMedecine Faculty, Laval University, Quebec, QC G1V4G2, CanadaDepartment of Dermatology, Centre Hospitalier Universitaire de Quebec-Université Laval, Quebec, QC G1V4G2, CanadaDepartement of Pediatric, Centre Hospitalier Universitaire de Quebec-Université Laval, Quebec, QC G1V4G2, CanadaDepartment of Pathology, Centre Hospitalier Universitaire de Quebec-Université Laval, Quebec, QC G1V4G2, CanadaDepartment of Medical Genetics, Centre Hospitalier Universitaire de Quebec-Université Laval, Quebec, QC G1V4G2, CanadaDepartment of Pediatric Hemato-Oncology, Montreal Children’s Hospital, McGill University Health Centre, Montreal, QC G1V4G2, CanadaDivision of Medical Genetics, Department of Specialized Medicine, McGill University Health Centre, Montreal, QC G1V4G2, CanadaMastocytosis is a heterogeneous group of rare hematological disorders that can occur in infancy. We report a 16-year-old girl who presented with an aggressive form of systemic congenital mastocytosis, associated with a significant global developmental delay, deafness, and multiple anomalies. At 4 years of age, she developed a germinoma presenting as an invasive spinal mass. Extensive cytogenetic, metabolic, and molecular genetic studies that included whole-exome sequencing studies revealed a <i>KIT</i> alteration (NM_000222.3(KIT):c2447A > 7 pAsp816Val) and likely pathogenic variant in the DNA from peripheral blood and skin lesions. C-kit was also found to be overexpressed in the spinal tumor cells. We compared the features of this child to those of six previously reported pediatric patients with cutaneous mastocytosis, microcephaly, microtia, and/or hearing loss reported in OMIM as mastocytosis, conductive hearing loss, and microtia (MIM 248910), for which the etiology has not yet been determined. This report extends the currently recognized spectrum of KIT-related disorders and provides clues as to the potential etiology of a syndromic form of congenital mastocytosis. International efforts to understand the benefits of long-term targeted therapy with tyrosine kinase inhibitors for this KIT-altered rare disease should continue to be evaluated in clinical trials.https://www.mdpi.com/1718-7729/30/10/649congenital mastocytosisKIT alterationCNS tumorhearing lossmicrotiatyrosine kinase inhibitor |
| spellingShingle | Valérie Larouche Marie-Frédérique Paré Pierre-Olivier Grenier Anna Wieckowska Eric Gagné Rachel Laframboise Nada Jabado Isabelle De Bie A Review of the Clinical Features and Management of Systemic Congenital Mastocytosis through the Presentation of An Unusual Prenatal-Onset Case Current Oncology congenital mastocytosis KIT alteration CNS tumor hearing loss microtia tyrosine kinase inhibitor |
| title | A Review of the Clinical Features and Management of Systemic Congenital Mastocytosis through the Presentation of An Unusual Prenatal-Onset Case |
| title_full | A Review of the Clinical Features and Management of Systemic Congenital Mastocytosis through the Presentation of An Unusual Prenatal-Onset Case |
| title_fullStr | A Review of the Clinical Features and Management of Systemic Congenital Mastocytosis through the Presentation of An Unusual Prenatal-Onset Case |
| title_full_unstemmed | A Review of the Clinical Features and Management of Systemic Congenital Mastocytosis through the Presentation of An Unusual Prenatal-Onset Case |
| title_short | A Review of the Clinical Features and Management of Systemic Congenital Mastocytosis through the Presentation of An Unusual Prenatal-Onset Case |
| title_sort | review of the clinical features and management of systemic congenital mastocytosis through the presentation of an unusual prenatal onset case |
| topic | congenital mastocytosis KIT alteration CNS tumor hearing loss microtia tyrosine kinase inhibitor |
| url | https://www.mdpi.com/1718-7729/30/10/649 |
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