Table 3.
Morphologic, immunohistochemical and molecular findings.
| Case | Immunohistochemistry (IHC) | Molecular | |||||
|---|---|---|---|---|---|---|---|
| ER/PR | GATA3 | TTF-1 | CD10 | Other/Remarks | |||
| 1 | Yamamoto et al., 1995 [12] | NA | NA | NA | NA | / | NA |
| 2 | Ordi et al., 2001 [13] | −/− | NA | NA | + |
P53 wild type
Inhibin – |
NA |
| 3 | Montagut et al., 2003 [14] | −/− | NA | NA | + | P53 wild type | NA |
| 4 | Bague et al., 2004 [15] | NA | NA | NA | Not specified | Case diagnosed as MMMT | NA |
| 5 | Marquette et al., 2006 [16] | −/− | NA | NA | − | / | NA |
| 6 | Wani et al., 2008 [17] | −/− | NA | NA | + luminal |
Calretinin +
P53 wild type HNF1b – |
NA |
| 7 | Kenny et al., 2012 [18] | Not specified (2/8+) | NA | Not specified (3/5 +) | Not specified (6/8 +) | Report of 8 cases, 7 cervical, 1 uterine body; IHC is not separately reported. | NA |
| 8–9 |
Wu et al., 2014 [19] 2 cases |
−/− | NA | NA | + | Calretinin + | NA |
| 10 | Howitt et al., 2015 [20] | NA | + | NA | NA | / | NA |
| 11 | Kim et al., 2016 [21] | −/− | NA | + | + luminal | Calretinin – Inhibin – P53 wild type |
NA |
| 12–23 | McFarland et al., 2016 [22] 12 cases + Mirkovic et al., 2018 [1] for molecular analysis (7 cases of McFarland et al.) |
−/− (12/12) | + (3/12) − (8/12) |
+ (11/12) − (1/12) |
+ (7/9) − (2/9) |
P53 wild type Calretinin + (3/6) HNF1b − (8/10) NapsinA − (9/11) |
KRAS mutations 7/7
There were no alterations in PTEN, ARID1A, or TP53 in any of the tumors. CNV: 1q gain (5/7), accompanied by 1p loss in 2 cases. Chromosome 10 gain (4/7), which was accompanied by gain of chromosome 12 in 3 cases. |
| 24 | Ando et al., 2017 [23] | + (<1%)/− | + | + | + luminal |
Calretinin + focal
WT1 – Inhibin – NapsinA + (<1%) P53 wild type |
NA |
| 25 | Kim et al., 2018 [24] | −/− | + | NA | + | / | NA |
| 26 | Zhang et al., 2019 [25] | −/− | + | NA | + luminal | Calretinin + focal WT1 + focal |
NA |
| 27 | Zhang et al., 2019 [25] | −/− | + | − | NA | WT1 – NapsinA – P53 wild type P16 patchy |
NA |
| 28 | Chapel et al., 2018 [3] | −/− | + | + | + luminal | Calretinin – P53 wild type P16 patchy WT1 – Inhibin + focal P63 + focal Thyroglobulin – CK20 – PTH – Chromogranin – Synaptophysin – |
NRAS Q61R additional mutations in the tumor suppressor genes BCOR or AMER1 CNV: 1q gain, 18p gain, 1p loss, 18q loss, 22 loss. |
| 29 | Patel et al., 2018 [26] | + (weak focal<5%)/− | + | + | NA | Beta-catenin nuclear Inverse staining of GATA3/TTF1 |
KRAS G12A |
| 30–34 | Pors et al., 2018 [27] 5 cases |
+/ND (2/5) −/ND (3/5) |
+ (5/5) | + (5/5) | + luminal (4/5) | Inverse staining of GATA3/TTF1 Calretinin – |
NA |
| 35–45 | Na et al., 2019 [9] 11 cases |
−/− (11/11) | + (11/11) | NA | + luminal (11/11) | P53 wild type Preserved PTEN Calretinin + (3/11) |
11 cases + from 1 case a metastasis. KRAS mutation (10/12)
9p gain (7/12), 20q gain (7/12), 12q gain (6/12), 6q gain (4/12), 10q gain (4/12), 3q loss (3/12), 5p gain (3/12), 7q gain (3/12), 19p gain (3/12), and gain of chromosome 2 (3/12). Gain of 10q was detected exclusively in 3 cases with metastasis. Additional PTEN mutation (D268E) in metastatic tumor only. |
| 46 | Yano et al., 2019 [28] | −/− | + focal | + focal | + focal | P53 wild type CA125 strong P16 focal Calretinin – HNF1b – NapsinA – AR – WT1 – |
KRAS G12A |
| 47 | Kolin et al., 2019 [8] | + (patchy, weak)/− | + focal | + | + luminal | Synaptophysin – Chromogranin – P63 – |
KRAS G12A 1p loss, 1q gain, 10p gain, 10q loss, 21 q loss |
| 48 | Kolin et al., 2019 [8] | +/+ heterogenous | − | + | + luminal | P53 wild type |
KRAS G12V 1p loss, 1q gain, 4p loss, 4q loss, 11p loss, 11q loss, 21q loss |
| 49 | Kolin et al., 2019 [8] | −/− | − | + patchy | + luminal | P16 patchy NapsinA focal + |
KRAS G12D PIK3R1 E451del 1q gain, 11p loss, 11q loss, 13q loss, 17p loss, 22q loss |
| 50 | Kolin et al., 2019 [8] | −/− | NA | + | NA | P53 wild type NapsinA – WT1 – Chromogranin – Synaptophysin – Thyroglobulin – |
KRAS G12V |
| 51 | Yamamoto et al., 2019 [29] | + very focal/− | + focal | + diffuse | + focal | Calretinin focal + Thyroglobulin - |
NA |
| 52(53–56NA) | McCluggage et al., 2020 [4] |
−/− | + focal | + focal | + luminal | P53 wild type WT1 – Thyroglobulin – |
KRAS G12D |
| 57 | Dundr et al., 2020 [30] | −/− | + (30%) | + (70%) | + focal | P53 wild type Calretinin – WT1 – HNF1b – Inhibin – |
KRAS (c.34G > T, p.(G12C)) and PIK3CA (c.1633G > A, p.(E545K)) Likely pathogenic somatic MYCN mutation (c.131C > T, p.(P44L) Hereditary CHEK2 mutation. |
| 58 | Seay et al., 2020 [31] | −/− | + focal | + focal | + focal | P16 patchy WT1 – Calretinin – P53 wild type MMRp Preserved PTEN, ARID1A |
Variants of unknown significance in the ATM gene (c.4303A > C (p.Lys145Gln) and PALB2 gene (c.693A > T (p.Lys231Asn) |
| 59–127 | Pors et al., 2020 [10] 44 + 25 cases |
Positive for at least one of GATA3, TTF1, CD10 (luminal), calretinin, AND negative/focal positivity for ER, or molecular confirmation (KRAS mutations) | |||||
| 128–131 | Horn et al., 2020 [7] 4 cases |
−/− (4/4) | − (2/2) | + (4/4) | + luminal (2/2) | P16 patchy P53 wild type MMRp |
KRAS G12V (3/4) KRAS G12D (1/4) |
| 132–154 | Euscher et al., 2020 [6] 23 cases |
−/− (11/23) +/- (3/23) +/+ (1/23) +/ND (2/23) −/ND (4/23) ND/ND (2/23) (ER + 10–40% focal to patchy) |
GATA3+/TTF1+ (10/23) GATA3+/TTF1-(4/23) GATA3-/TTF1+ (0/23) GATA3-/TTF1-(1/23) GATA3 NA/TTF1+ (1/23) GATA3+/TTF1 NA (1/23) NA (6/23) |
+ luminal (10/23) NA (13/23) |
Calretinin − (10/15) + (5/15) |
13/17 KRAS
PTEN (2/5) and CTNNB1 (1/5). |
|
| 155 | Our case | −/− | + | − | − | P53 wild type PAX8 + SATB2 – CK7 focal + CK20 focal + P16 patchy Vimentin + MMRp |
KRAS G13N Two probable pathogenic variants of PTEN (c.388C > T and c.634 + 2T > G). |
Italics: located in the myometrium. ND: not done; NA: not available; MMRp: mismatch repair proficient; +: positive; −: negative.