Mixed histiocytosis of RDD and LCH cases
| Reference . | Age, y, except as noted . | Sex . | RDD and LCH sites . | Molecular results . | Treatment and follow-up . |
|---|---|---|---|---|---|
| O’Malley et al3 | 15 mo | M | Cervical LN (80% RDD, 20% LCH) | aCGH: 1p36.21→p36.33 loss, 13q21.1→q21.32 gain, 19p13.11→p13.3 loss | Localized no Rx; 10 mo f/u |
| O’Malley et al3 | 15 mo→5 | F | Cervical LN (95% RDD, 5% LCH, initial) and recurrence 4 y later in tonsils (RDD only) | ND | NA |
| O’Malley et al3 | 17 mo | F | Axillary LN (90% RDD, 10% LCH) | ND | NA |
| O’Malley et al3 | 3→4 | F | Cervical LN (LCH, initial) 10 mo later hilar LN with RDD | aCGH: 5q13.2 loss, 16p11.2 loss, 19p13.3 loss, 19p12 loss in LCH; normal in RDD | NA |
| Sachdev and Shyama5 * | 3 | M | Cervical LN (RDD) and preauricular LN (LCH) with diffuse LN and hepatosplenomegaly; pathology by FNA | ND | Systemic disease treated with low-dose steroids |
| Current case | 6 | M | Cervical LN (RDD 75%, LCH 25%), and additional LN, bone, and CNS | BRAF-V600E | Systemic disease initially started: 4 cycles of cytarabine with partial response; switched to dabrafenib with clinical/radiographic response; low-level BRAF-V600E in PBMCs indicates that molecular remission is not yet achieved at 13 mo |
| Cohen-Barak et al7 † | 10 | M | Multifocal bone and LN (initial LCH); with subsequent C-RDD 1 mo after starting LCH Rx | C-RDD: cytogenetic deletions of >200 000 bases (2q24.1, Yq11.1, Xp22.33, 11q12.3) and insertions of >500 000 bases (5p15.33, 2q37.3, 13q34, 10q26.3) | Systemic disease Rx: vinblastine/prednisone, after 5 mo with azathioprine also added for relief from C-RDD |
| Wei et al8 ‡ | 20 | F | Skin C-RDD/LC hyperplasia; pathology unconfirmed | ||
| Efared et al10 | 30 | F | Bone LCH/RDD | NA | No systemic disease or known recurrence after curettage |
| Kutty and Sreehari11 § | 31 | M | Skull bone LCH with recurrence 2 y later with CNS RDD; pathology unconfirmed | NA | Curettage of LCH bone lesion, surgical excision of intracranial mass |
| O’Malley et al3 | 33 | F | Facial region LN (90% RDD, 10% LCH) | aCGH: 9p13-q12 loss | NA |
| O’Malley et al3 | 35 | F | Abdominal mass/subcutis (95% RDD, 5% LCH) | aCGH: loss of 16p11.2 | NA |
| O’Malley et al3 | 43 | F | Submental LN (95% RDD, 5% LCH) | ND | NA |
| Wang et al4 | 45 | F | Skin/cheek plaque C-RDD with focus of LCH | ND | Cryotherapy of skin, NED 2 y |
| Litzner et al9 | 48 | F | Skin trunk, deep dermal/subcutis C-RDD with small LCH aggregates (in region of scar from previous BCC excision) | NA | No systemic disease; surgical excision with persistent small subcutis nodule |
| O’Malley et al3 | 51 | F | Cervical LN (95% RDD, 5% LCH) | aCGH: normal | NA |
| Kong et al6 | 52 | F | Skin C-RDD with localized LCH | ND | 18 mo with persistence, surgical excision with 8 mo disease-free |
| O’Malley et al3 | 59 | M | Gastric LN (95% RDD, 5% LCH) | ND | NA |
| Reference . | Age, y, except as noted . | Sex . | RDD and LCH sites . | Molecular results . | Treatment and follow-up . |
|---|---|---|---|---|---|
| O’Malley et al3 | 15 mo | M | Cervical LN (80% RDD, 20% LCH) | aCGH: 1p36.21→p36.33 loss, 13q21.1→q21.32 gain, 19p13.11→p13.3 loss | Localized no Rx; 10 mo f/u |
| O’Malley et al3 | 15 mo→5 | F | Cervical LN (95% RDD, 5% LCH, initial) and recurrence 4 y later in tonsils (RDD only) | ND | NA |
| O’Malley et al3 | 17 mo | F | Axillary LN (90% RDD, 10% LCH) | ND | NA |
| O’Malley et al3 | 3→4 | F | Cervical LN (LCH, initial) 10 mo later hilar LN with RDD | aCGH: 5q13.2 loss, 16p11.2 loss, 19p13.3 loss, 19p12 loss in LCH; normal in RDD | NA |
| Sachdev and Shyama5 * | 3 | M | Cervical LN (RDD) and preauricular LN (LCH) with diffuse LN and hepatosplenomegaly; pathology by FNA | ND | Systemic disease treated with low-dose steroids |
| Current case | 6 | M | Cervical LN (RDD 75%, LCH 25%), and additional LN, bone, and CNS | BRAF-V600E | Systemic disease initially started: 4 cycles of cytarabine with partial response; switched to dabrafenib with clinical/radiographic response; low-level BRAF-V600E in PBMCs indicates that molecular remission is not yet achieved at 13 mo |
| Cohen-Barak et al7 † | 10 | M | Multifocal bone and LN (initial LCH); with subsequent C-RDD 1 mo after starting LCH Rx | C-RDD: cytogenetic deletions of >200 000 bases (2q24.1, Yq11.1, Xp22.33, 11q12.3) and insertions of >500 000 bases (5p15.33, 2q37.3, 13q34, 10q26.3) | Systemic disease Rx: vinblastine/prednisone, after 5 mo with azathioprine also added for relief from C-RDD |
| Wei et al8 ‡ | 20 | F | Skin C-RDD/LC hyperplasia; pathology unconfirmed | ||
| Efared et al10 | 30 | F | Bone LCH/RDD | NA | No systemic disease or known recurrence after curettage |
| Kutty and Sreehari11 § | 31 | M | Skull bone LCH with recurrence 2 y later with CNS RDD; pathology unconfirmed | NA | Curettage of LCH bone lesion, surgical excision of intracranial mass |
| O’Malley et al3 | 33 | F | Facial region LN (90% RDD, 10% LCH) | aCGH: 9p13-q12 loss | NA |
| O’Malley et al3 | 35 | F | Abdominal mass/subcutis (95% RDD, 5% LCH) | aCGH: loss of 16p11.2 | NA |
| O’Malley et al3 | 43 | F | Submental LN (95% RDD, 5% LCH) | ND | NA |
| Wang et al4 | 45 | F | Skin/cheek plaque C-RDD with focus of LCH | ND | Cryotherapy of skin, NED 2 y |
| Litzner et al9 | 48 | F | Skin trunk, deep dermal/subcutis C-RDD with small LCH aggregates (in region of scar from previous BCC excision) | NA | No systemic disease; surgical excision with persistent small subcutis nodule |
| O’Malley et al3 | 51 | F | Cervical LN (95% RDD, 5% LCH) | aCGH: normal | NA |
| Kong et al6 | 52 | F | Skin C-RDD with localized LCH | ND | 18 mo with persistence, surgical excision with 8 mo disease-free |
| O’Malley et al3 | 59 | M | Gastric LN (95% RDD, 5% LCH) | ND | NA |
aCGH, microarray-based comparative genomic hybridization; BCC, basal cell carcinoma; C-RDD, cutaneous RDD; F, female; FNA, fine needle aspiration; f/u, follow up; LC, Langerhans cell; M, male; NA, not available; ND, not done; NED, no evidence of disease; Rx, treatment.
Pathology interpreted with caution: LN cytology may reveal a reactive/hyperplastic paracortical Langerhans cell population that will also stain positive for CD1a. The diagnosis of LCH can be challenging to confirm on cytology alone; other reported disease involvement may be extended to represent disease involvement.
Pathology interpreted with caution: juvenile xanthogranuloma family (reticulohistiocytoma subtype) may have similar appearance to the pictured C-RDD in the superficial dermis, including sharing S100 expression pattern with emperipolesis; other confirmatory stains needed.
Pathology of LCH and RDD not confirmed by reported images: Langerhans cell hyperplasia is described rather than bona vide LCH in the skin.
Pathology of LCH and RDD not confirmed by reported images: LCH by report and provided RDD picture does not confirm RDD cells.