Early therapy-related myeloid sarcoma and deletion of 9q22.32 to q31.1

Brickler, Molly; Basel, Donald; Gheorghe, Gina; Kelly, Michael; Ehrhardt, Matthew J.

doi:10.1002/pbc.25040

Cited by 4 publications

(1 citation statement)

References 20 publications

(27 reference statements)

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“…Up to 13% of BCNS cases have deletions of at least one exon (Evans et al, 2017) and a small proportion of these have larger deletions of chromosome 9 encompassing PTCH1 as well as additional material. The longest reported such deletion to date is 20.5 mb while the shortest is 0.35 mb (Boonen et al, 2005; Brickler et al, 2014; Cajaiba et al, 2006; Cayrol et al, 2019; Garavelli et al, 2013; Isidor et al, 2013; Kieny et al, 2018; Muller et al, 2012; Redon et al, 2006; Reichert et al, 2015; Shimojima et al, 2009; Yamada et al, 2020). As with other microdeletion syndromes (Schmickel, 1986; Weise et al, 2012), most patients with 9q22.3 deletion have multiple signs and symptoms in addition to the manifestations of BCNS.…”

Section: Introductionmentioning

confidence: 99%

Microdeletion of 9q22.3: A patient with minimal deletion size associated with a severe phenotype

Ewing

Cheetham

McGill

et al. 2021

American J of Med Genetics Pt A

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Basal cell nevus syndrome (also known as Gorlin Syndrome; MIM109400) is an autosomal dominant disorder characterized by recurrent pathological features such as basal cell carcinomas and odontogenic keratocysts as well as skeletal abnormalities. Most affected individuals have point mutations or small insertions or deletions within the PTCH1 gene on human chromosome 9, but there are some cases with more extensive deletion of the region, usually including the neighboring FANCC and/or ERCC6L2 genes. We report a 16‐year‐old patient with a deletion of approximately 400,000 bases which removes only PTCH1 and some non‐coding RNA genes but leaves FANCC and ERCC6L2 intact. In spite of the small amount of DNA for which he is haploid, his phenotype is more extreme than many individuals with longer deletions in the region. This includes early presentation with a large number of basal cell nevi and other skin lesions, multiple jaw keratocysts, and macrosomia. We found that the deletion was in the paternal chromosome, in common with other macrosomia cases. Using public databases, we have examined possible interactions between sequences within and outside the deletion and speculate that a regulatory relationship exists with flanking genes, which is unbalanced by the deletion, resulting in abnormal activation or repression of the target genes and hence the severity of the phenotype.

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Section: Introductionmentioning

confidence: 99%

Microdeletion of 9q22.3: A patient with minimal deletion size associated with a severe phenotype

Ewing

Cheetham

McGill

et al. 2021

American J of Med Genetics Pt A

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Clinicopathological and molecular features of myeloid sarcoma as initial presentation of therapy-related myeloid neoplasms: a single institution experience

et al. 2014

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Therapy-related myeloid neoplasms (t-MN) have a common origin in prior cytotoxic therapy and/or radiation. These neoplasms include therapy-related acute myeloid leukemia, myelodysplastic syndrome (t-MDS), and myelodysplastic/myeloproliferative neoplasms (t-MDS/MPN). Myeloid sarcoma (MS), on the other hand, is a rare disease manifesting as an extramedullary collection of immature cells of myeloid lineage. Rarer still is therapy-related MS (t-MS), which has not been adequately studied due to its rarity and its lack of recognition as a unique entity among other t-MN. Here, we report what is to our knowledge the first case series of t-MS, with the aim of investigating and establishing salient clinicopathological and molecular features of this entity.

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Antineoplastics

2014

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S Antineoplastics Therapy related myeloid sarcoma: case reportA 13-month-old boy developed therapy related myeloid sarcoma (t-MS) during chemotherapy with cyclophosphamide, doxorubicin, carboplatin, etoposide and topotecan [routes not stated].The boy, who had a history of gross motor delay, was evaluated for 2 weeks of fever and worsening cough. The persistent symptoms and related investigations confirmed metastatic neuroblastoma. He received one cycle of chemotherapy with topotecan and cyclophosphamide which was further modified to a Children's Oncology Group intermediate risk protocol ANBL0532 therapy including cyclophosphamide, carboplatin, etoposide, topotecan and doxorubicin, with cumulative doses of 4951 mg/m 2 , 1582 mg/m 2 , 1025 mg/m 2 , 6 mg/m 2 and 85 mg/m 2 respectively. A 5 mm purple, firm, mobile, non-tender, dermal scalp nodule was observed after seven cycles of therapy. After completion of eighth cycle, the dermal nodule persisted and was accompanied by 2 smaller satellite lesions. A scalp biopsy revealed a dense lymphoid infiltrate containing large atypical cells with prominent nucleoli, fine chromatin and large amount of cytoplasm occupying the dermis and subcutaneous tissue. Immunohistological staining showed positivity of the atypical cells for CD68KP1, CD33, CD43, CD45/LCA and lysozyme with focal MPO positivity. Cytogenetic evaluation recovered a single metaphase cell with a t(8;16) translocation. The results obtained were consistent with MS. Due to the presence of two histologically distinct malignancies, this was found to represent a t-MS. A chromosomal microarray identified a novel, de novo 7.3 Mb deletion within cytogenetic interval 9q22.32 to 9q31.1.The boy underwent a myeloablative 5/6 umbilical cord transplant. Eleven months post-transplant he remained in remission for both malignancies.Author comment: "The rare presence in our patient with what we believe to be a therapy-related myeloid neoplasm likely emphasizes the need for an aggressive curative approach." Brickler MM, et al. Early therapy-related myeloid sarcoma and deletion of 9q22.32 to q31.1.

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Early therapy-related myeloid sarcoma and deletion of 9q22.32 to q31.1

Cited by 4 publications

References 20 publications

Microdeletion of 9q22.3: A patient with minimal deletion size associated with a severe phenotype

Microdeletion of 9q22.3: A patient with minimal deletion size associated with a severe phenotype

Clinicopathological and molecular features of myeloid sarcoma as initial presentation of therapy-related myeloid neoplasms: a single institution experience

Antineoplastics

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