| Content Provider |
World Health Organization (WHO)-Global Index Medicus |
| Author |
Álvarez-twose, Iván Jara-Acevedo, María Morgado, José Mário García-Montero, Andrés Sánchez-Muñoz, Laura Teodósio, Cristina Matito, Almudena Mayado, Andrea Caldas, Carolina Mollejo, Manuela Orfao, Alberto Escribano, Luis |
| Description |
Author Affiliation: Álvarez-Twose I ( Instituto de Estudios de Mastocitosis de Castilla La Mancha (CLMast), Hospital Virgen del Valle, Toledo, Spain); Jara-Acevedo M ( Spanish Network on Mastocytosis (REMA), Toledo and Salamanca, Spain); Morgado JM ( Instituto de Estudios de Mastocitosis de Castilla La Mancha (CLMast), Hospital Virgen del Valle, Toledo, Spain); García-Montero A ( Spanish Network on Mastocytosis (REMA), Toledo and Salamanca, Spain); Sánchez-Muñoz L ( Instituto de Estudios de Mastocitosis de Castilla La Mancha (CLMast), Hospital Virgen del Valle, Toledo, Spain); Teodósio C ( Spanish Network on Mastocytosis (REMA), Toledo and Salamanca, Spain); Matito A ( Instituto de Estudios de Mastocitosis de Castilla La Mancha (CLMast), Hospital Virgen del Valle, Toledo, Spain); Mayado A ( Spanish Network on Mastocytosis (REMA), Toledo and Salamanca, Spain); Caldas C ( Spanish Network on Mastocytosis (REMA), Toledo and Salamanca, Spain); Mollejo M ( Spanish Network on Mastocytosis (REMA), Toledo and Salamanca, Spain); Orfao A ( Spanish Network on Mastocytosis (REMA), Toledo and Salamanca, Spain); Escribano L ( Spanish Network on Mastocytosis (REMA), Toledo and Salamanca, Spain.) |
| Abstract |
BACKGROUND: Well-differentiated systemic mastocytosis (WDSM) is a rare variant of systemic mastocytosis (SM) characterized by bone marrow (BM) infiltration by mature-appearing mast cells (MCs) often lacking exon 17 KIT mutations. Because of its rarity, the clinical and biological features of WDSM remain poorly defined. OBJECTIVE: We sought to determine the clinical, biological, and molecular features of a cohort of 33 patients with mastocytosis in the skin in association with BM infiltration by well-differentiated MCs and to establish potential diagnostic criteria for WDSM. METHODS: Thirty-three patients with mastocytosis in the skin plus BM aggregates of round, fully granulated MCs lacking strong CD25 and CD2 expression in association with clonal MC features were studied. RESULTS: Our cohort of patients showed female predominance (female/male ratio, 4:1) and childhood onset of the disease (91%) with frequent familial aggregation (39%). Skin involvement was heterogeneous, including maculopapular (82%), nodular (6%), and diffuse cutaneous (12%) mastocytosis. KIT mutations were detected in only 10 (30%) of 33 patients, including the KIT D816V (n = 5), K509I (n = 3), N819Y (n = 1), and I817V (n = 1) mutations. BM MCs displayed a unique immunophenotypic pattern consisting of increased light scatter features, overexpression of cytoplasmic carboxypeptidase, and aberrant expression of CD30, together with absent (79%) or low (21%) positivity for CD25, CD2, or both. Despite only 9 (27%) of 33 patients fulfilling the World Health Organization criteria for SM, our findings allowed us to establish the systemic nature of the disease, which fit with the definition of WDSM. CONCLUSIONS: WDSM represents a rare clinically and molecularly heterogeneous variant of SM that requires unique diagnostic criteria to avoid a misdiagnosis of cutaneous mastocytosis per current World Health Organization criteria. |
| File Format |
HTM / HTML |
| ISSN |
00916749 |
| e-ISSN |
10976825 |
| Journal |
Journal of Allergy and Clinical Immunology |
| Issue Number |
1 |
| Volume Number |
137 |
| Language |
English |
| Publisher |
Elsevier |
| Publisher Date |
2016-01-01 |
| Publisher Place |
United States |
| Access Restriction |
Open |
| Subject Keyword |
Discipline Immunology Mastocytosis, Cutaneous Diagnosis Mastocytosis, Systemic Adolescent Child, Preschool Immunophenotyping Mast Cells Immunology Pathology Genetics Mutation Proto-oncogene Proteins C-kit Skin Research Support, Non-u.s. Gov't |
| Content Type |
Text |
| Resource Type |
Article |
| Subject |
Immunology and Allergy Immunology |
