Categories: Neoplasm

Mendelian trait/disorder: yes

Mode of inheritance: X-linked recessive

Disease-related: yes

Key variant known: yes

Year key variant first reported: 2022

History: Jacinto et al. (2022) "reported the clinical, pathological and genetic findings of a Holstein calf that had multiple cutaneous and visceral poorly differentiated embryonal mast cell tumors consistent with a form of congenital mast cell tumor."

Molecular basis: Jacinto et al. (2022): "Whole-genome sequencing [of the affected calf and its sire and dam] revealed . . . a private X-linked variant in the PLP2 gene (chrX:87216480C > T; c.50C > T), which was present only in the genomes of the case (hemizygous) and his mother (heterozygous). It was absent in the sire as well as in 5365 control genomes. The identified missense variant exchanges the encoded amino acid of PLP2 at position 17 (p.Thr17Ile), which is classified as deleterious and affects a protein that plays a role in tumor growth and metastasis. Therefore, we suggested that the detected PLPL2 variant could be a plausible cause for this congenital condition in the affected calf."

Clinical features: Jacinto et al. (2022): "An 18-day-old male Holstein calf was clinically examined and revealed multifocal, alopecic, thick and wrinkled skin lesions over the entire body. At 6 months of age, the general condition of the calf was characterized by retarded growth, poor nutritional status, and ulceration of the skin lesions."

Pathology: Jacinto et al. (2022): "Histopathological examination revealed a primary cutaneous, poorly differentiated embryonal mast cell tumor with metastases in the lymph nodes and liver."

Breed: Holstein (black and white) (Cattle) (VBO_0000237).
Breeds in which the phene has been documented. (If a likely causal variant has been documented for the phene, see the variant table breeds in which the variant has been reported).

Associated gene: