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Pediatric Blood & Cancer Jun 2024
Topics: Humans; Mutation; Proto-Oncogene Proteins p21(ras); Xanthogranuloma, Juvenile; Precursor B-Cell Lymphoblastic Leukemia-Lymphoma; Philadelphia Chromosome; Male; Female; Infant
PubMed: 38523244
DOI: 10.1002/pbc.30963 -
International Journal of Dermatology Mar 2024
PubMed: 38504622
DOI: 10.1111/ijd.17142 -
BMC Ophthalmology Mar 2024The "C group" of the histiocytic disorders is characterized by non-Langerhans-cell histiocytic lesions in the skin, mucosal surfaces, or both, out of which Juvenile...
BACKGROUND
The "C group" of the histiocytic disorders is characterized by non-Langerhans-cell histiocytic lesions in the skin, mucosal surfaces, or both, out of which Juvenile xanthogranuloma (JXG) is the most common typically affecting the skin. The eye is the most common extra-cutaneous site of JXG., we aim at providing our clinical and histopathological experience with this group of diseases including the adult-onset xanthogranuloma (AXG).
METHODS
This is a retrospective cohort study of all patients with the tissue diagnosis of ocular and periocular cutaneous and mucocutaneous non-LCH disorders who presented to us over a period of 25 years (January 1993 to December 2018).
RESULTS
Twenty patients were diagnosed as "Group C" disease with an age range of 2 months-60.9 years. Eleven patients were females (55%) and nine were males (45%). The involvement was mostly unilateral in 80.9%. All cases fell into the xanthogranuloma family with 11 JXG patients, 8 AXG patients of skin and ocular surface, and one patient with solitary reticulohistiocytoma (SRH). The clinical site of involvement in JXG was primarily in the eyelid in 5 patients (45%), ocular surface lesions in 2 (18%), iris in 2 (18%), choroidal and bilateral orbital lesions in 1 patient each (9%). The group of AXG, presented equally with eyelid lesions in 4/8 and ocular surface lesions in 4/8. The non-Langerhans' histiocytic infiltrate showed supportive immunohistochemical staining properties (reactive to CD68 marker and negative to S-100 and langerin markers).
CONCLUSION
Among the rare histiocytic disorders, xanthogranulomatosis is the commonest and has wide clinical manifestations. Accurate diagnosis needs to be supported by typical histopathological findings. JXG was the commonest in our study with relatively older mean age at presentation and frequent eyelid rather than iris involvement. AXG is often confused with xanthelasma when involving the eyelids with corneal limbal involvement is relatively frequent.
Topics: Male; Adult; Female; Humans; Infant; Retrospective Studies; Xanthogranuloma, Juvenile; Skin Neoplasms; Face; Iris
PubMed: 38504269
DOI: 10.1186/s12886-024-03388-8 -
Pediatric Dermatology Mar 2024Juvenile xanthogranuloma (JXG) with extensive cutaneous or visceral organ involvement is often associated with high morbidity and treatment commonly involves surgical...
Juvenile xanthogranuloma (JXG) with extensive cutaneous or visceral organ involvement is often associated with high morbidity and treatment commonly involves surgical excision, radiotherapy, systemic steroids, or chemotherapy. Sirolimus, a mammalian target of rapamycin (mTOR) inhibitor, is an oral antitumor and immunosuppressive therapy used to treat various neoplastic disorders, including histiocytic disorders. We report two pediatric cases of JXG successfully treated with oral sirolimus monotherapy, and postulate that sirolimus may induce rapid disease resolution and long-term remission for patients with both skin-limited and multisystemic JXG. Our findings warrant further investigation of the relationship between the mTOR pathway and JXG.
PubMed: 38444069
DOI: 10.1111/pde.15579 -
Indian Journal of Pathology &... 2024Juvenile xanthogranuloma is a benign self-limiting lesion commonly described in infants and young children. It most commonly involves the skin presenting as single or...
Juvenile xanthogranuloma is a benign self-limiting lesion commonly described in infants and young children. It most commonly involves the skin presenting as single or multiple yellowish-brown papules. Clinical scenario with the classic histomorphology showing histiocytic aggregates in the dermis with xanthomatous cytoplasm, toutan type giant cells, immunohistochemistry with positive CD68, CD163, factor XIIIa and negative CD1a and S-100 help in diagnosis. However, diagnosis becomes challenging with predominant systemic bone marrow involvement in post-B-lymphoblastic leukemia settings.
Topics: Infant; Child; Humans; Child, Preschool; Bone Marrow; Skin; Xanthogranuloma, Juvenile; Histiocytes; Xanthomatosis; Precursor B-Cell Lymphoblastic Leukemia-Lymphoma; Precursor Cell Lymphoblastic Leukemia-Lymphoma
PubMed: 38358218
DOI: 10.4103/ijpm.ijpm_1253_21 -
Histopathology Apr 2024The discovery of somatic genetic alterations established many histiocytic disorders as haematologic neoplasms. We aimed to investigate the demographic characteristics...
AIMS
The discovery of somatic genetic alterations established many histiocytic disorders as haematologic neoplasms. We aimed to investigate the demographic characteristics and additional haematologic cancers of patients diagnosed with histiocytic disorders in The Netherlands.
METHODS AND RESULTS
We retrieved data on histiocytosis patients from the Dutch Nationwide Pathology Databank (Palga). During 1993 to 2022, more than 4000 patients with a pathologist-assigned diagnosis of a histiocytic disorder were registered in Palga. Xanthogranulomas were the most common subtype, challenging the prevailing assumption that Langerhans cell histiocytosis (LCH) is the most common histiocytic disorder. LCH and juvenile xanthogranuloma (JXG) had a peak incidence in the first years of life; males were overrepresented among all histiocytosis subgroups. 118 patients had a histiocytic disorder and an additional haematologic malignancy, including 107 (91%) adults at the time of histiocytosis diagnosis. In 16/118 patients, both entities had been analysed for the same genetic alteration(s). In 11 of these 16 patients, identical genetic alterations had been detected in both haematologic neoplasms. This included two patients with PAX5 p.P80R mutated B cell acute lymphoblastic leukaemia and secondary histiocytic sarcoma, further supporting that PAX5 alterations may predispose (precursor) B cells to differentiate into the myeloid lineage. All 4/11 patients with myeloid neoplasms as their additional haematologic malignancy had shared N/KRAS mutations.
CONCLUSIONS
This population-based study highlights the frequency of xanthogranulomas. Furthermore, our data add to the growing evidence supporting clonal relationships between histiocytic/dendritic cell neoplasms and additional myeloid or lymphoid malignancies. Particularly adult histiocytosis patients should be carefully evaluated for the development of these associated haematologic cancers.
Topics: Adult; Male; Humans; Histiocytosis, Langerhans-Cell; Histiocytes; Hematologic Neoplasms; Dendritic Cells; Demography
PubMed: 38213281
DOI: 10.1111/his.15127 -
Cancers Dec 2023Congenital tumors are rare and, owing to this rarity, there is limited information on many of them. A total of 839 fetal and postnatal MRI studies performed in the first...
Congenital tumors are rare and, owing to this rarity, there is limited information on many of them. A total of 839 fetal and postnatal MRI studies performed in the first 3 months of life were retrospectively reviewed. They were performed with the use of 1.5 T scanners. Seventy-six tumors were diagnosed based on fetal MRI between 20 and 37 gestational weeks, and 27 were found after birth, from 1 day of age to 3 months of life. Teratomas were the most common tumors in our dataset, mainly in the sacrococcygeal region (SCT), followed by cardiac rhabdomyomas and subependymal giant cell astrocytomas (SEGA) associated with TSC, and neuroblastomas. The group of less common tumors consisted of infantile fibrosarcomas, malignant rhabdoid tumors, mesoblastic nephromas and Wilms tumor, craniopharyngiomas, brain stem gliomas, desmoplastic infantile astrocytoma, choroid plexus carcinoma, glioblastoma, hemangiopericytoma, rhabdomyosarcoma, melanoma, mesenchymal hamartomas of the chest wall and the liver, and juvenile xanthogranuloma, with special consideration of blue rubber bleb nevus syndrome. MRI plays a significant role in further and better characterization of congenital tumors, leading to a correct diagnosis in many cases, which is crucial for pregnancy and neonatal management and psychological preparation of the parents. No diagnosis is impossible and can be absolutely excluded.
PubMed: 38201471
DOI: 10.3390/cancers16010043 -
The Journal of Pediatrics: X 2023
PubMed: 38186749
DOI: 10.1016/j.ympdx.2023.100093 -
Haematologica May 2024
B-cell acute lymphoblastic leukemia and juvenile xanthogranuloma in a patient with thrombocytopenia and leukemia predisposition syndrome: novel clinical presentation and perspective.
Topics: Female; Humans; ETS Translocation Variant 6 Protein; Genetic Predisposition to Disease; Precursor B-Cell Lymphoblastic Leukemia-Lymphoma; Proto-Oncogene Proteins c-ets; Repressor Proteins; Thrombocytopenia; Xanthogranuloma, Juvenile; Child; Adolescent
PubMed: 38031764
DOI: 10.3324/haematol.2023.284151 -
Anais Brasileiros de Dermatologia 2024
Topics: Adult; Humans; Skin; Xanthogranuloma, Juvenile; Skin Neoplasms
PubMed: 37996340
DOI: 10.1016/j.abd.2022.10.014